ORIGINAL ARTICLE

Check for updates

The effects of mitotane and 1a,25-dihydroxyvitamin D3 on Wnt/ beta-catenin signaling in human adrenocortical carcinoma cells

B. Rubin1 . C. Pilon1 . R. Pezzani2 . A. Rebellato1 . F. Fallo1 D

Received: 2 July 2019 / Accepted: 30 September 2019 @ Italian Society of Endocrinology (SIE) 2019

Abstract

Purpose Mitotane is the only chemotherapeutic agent available for the treatment of adrenocortical carcinoma (ACC), how- ever, the anti-neoplastic efficacy is limited due to several side-effects in vivo. There is, therefore, a need of exploring for new anti-tumoral agents which can be used either alone or in combination with mitotane. The active vitamin D metabolite 1a,25-dihydroxyvitamin D3 (1a,25(OH)2D3) acts as an anti-proliferative agent in human cancer by inhibiting the Wnt/ beta-catenin pathway through the vitamin D receptor (VDR). The aim of this study was to study the effects of mitotane and 1a,25(OH)2D3, individually or in combination, in an in vitro model with H295R ACC cells, and to elucidate the molecular events behind their effects involving the Wnt/beta-catenin signaling.

Methods and results Multiple concentrations of mitotane and 1x,25(OH)2D3, individually or in combination, were tested on H295R cells for 24-96 h, and the effects analysed by MTT. A reduction in cell growth was observed in a dose/time- dependent manner for both mitotane and 1x,25(OH)2D3. In addition, a combination of clinically sub-therapeutic concen- trations of mitotane with 1x,25(OH)2D3, had an additive anti-proliferative effect (Combination Index = 1.02). In a wound healing assay, individual treatments of both mitotane and 1x,25(OH)2D3 reduced the migration ability of H295R cells, with the effect further enhanced on combining both the agents. Western blotting and qRT-PCR analysis showed a modulation of the Wnt/beta-catenin and VDR signaling pathways.

Conclusion Our results show an additive effect of mitotane and 1x,25(OH)2D3 on the inhibition of H295R ACC cell growth and viability, and suggest that molecular mechanisms of their effects involve a functional link between VDR and Wnt/beta- catenin pathways.

Keywords Adrenocortical cancer cells · Mitotane · 1x,25-Dihydroxyvitamin D3 · Wnt/beta-catenin

Introduction

Adrenocortical carcinoma (ACC) is a rare malignancy (0.5-2 cases per million/year) that carries a poor progno- sis due to its tendency to metastasize before diagnosis and has a high risk of relapse post radical surgery [1]. Mito- tane, 1,1-dichloro-2-(o-chlorophenyl)-2-(p-chloro-phenyl) ethane (o,p’DDD), associated with or without traditional chemotherapeutic agents, is the only referral drug used for

the treatment of ACC treatment. It inhibits cell growth and impairs steroidogenesis [2-4] through a modality of action that still remains unclear [5]. However, its efficacy is limited due to poor pharmacokinetic properties and dose-limiting toxicity. Furthermore, therapeutic serum levels of mitotane may take several months to be achieved [6]. Given the high mortality rate and aggressiveness of ACC, there is a need of exploring new anti-tumoral agents which can be used indi- vidually or in combination with mitotane.

Besides the classical role in calcium and bone homeo- stasis, 1x,25-dihydroxycholecalciferol D3 (1a,25(OH)2D3 or calcitriol), the active metabolite of vitamin D, is known to have “noncalcemic” effects in a variety of cells after bind- ing to vitamin D receptor (VDR) [7]. In spite of contro- versy, several clinical studies support the role of vitamin D either alone or in combination with other chemotherapeutic agents, for the prevention and treatment of different cancers

☒ F. Fallo

francesco.fallo@unipd.it

1 Endocrine-Metabolic Laboratory, Clinica Medica 3, Department of Medicine (DIMED), University of Padova, Via Giustiniani 2, 35128 Padua, Italy

2 Endocrinology Unit, Department of Medicine (DIMED), University of Padova, Padua, Italy

[8-10]. It has been recognized that 1x,25(OH)2D3 protects against tumor formation through several VDR-mediated effects, including the inhibition of cell growth, cell differ- entiation, migration, invasion, and apoptosis, making it an ideal candidate for cancer regulation [11-13]. The antipro- liferative effect of 1a,25(OH)2D3 in cancer was observed mainly through VDR mediated inhibition of the Wnt/beta- catenin pathway [14, 15]. A relationship between vitamin D system and adrenal pathophysiology and growth has been recently highlighted [16, 17]. We previously demonstrated an antiproliferative effect of 1a,25(OH)2D3 on the H295R ACC cells, and a decreased expression of VDR mRNA and protein in a series of human ACCs, which suggested the loss of a protective role of VDR against malignant adrenocortical cell growth in these cases [18, 19].

The aim of this study was to study the effects of mito- tane and 1x,25(OH)2D3, individually or in combination, in an in vitro model with H295R ACC cells, and to elucidate the molecular events behind their effects involving the Wnt/ beta-catenin signaling.

Materials and methods

Adrenocortical carcinoma cell line

The human ACC cell line H295R was obtained from the American Type Culture Collection (ATCC, Rockville, MD, USA) and cultured in DMEM-F12 (Gibco-ThermoFisher Scientific, Waltham, MA, USA) supplemented with 1% ITS Liquid Media Supplement (100 X; ThermoFisher Scientific), 2% of Fetal Bovine Serum (FBS) (Gibco-ThermoFisher Sci- entific), and 1% antibiotics (100 mg/ml streptomycin sulfate) (Gibco-ThermoFisher Scientific).

Chemical agents

Mitotane was purchased from Sigma-Aldrich (St. Louis, MO, USA) and dissolved in ethanol at a stock concentra- tion of 10-1 M (stored a - 20 ℃) and diluted with DMEM- F12 to the desired final concentration for in vitro studies. 1a,25(OH)2D3 was dissolved in 100% dimethyl sulfoxide (DMSO) (Sigma-Aldrich), preserved a - 20 ℃ and diluted in DMEM-F12 prior to use.

Cell viability analysis

H295R cells were plated in 96-well tissue culture plates at a density of 1 × 104 cells/well in supplemented medium and used for viability studies employing the 3-(4,5-dimeth- ylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay (Sigma-Aldrich). Briefly, cells maintained overnight in low serum medium (DMEM-F12 with 0.1% FBS) were

treated with various concentrations of mitotane (from 0.01 to 100 µM) and 1x,25(OH)2D3 (from 0.01 to 10 µM) for 24-96 h. MTT (2.5 mg/ml) was then added for an addi- tional 4 h and the percentage cell viability calculated from the absorbance values as follows: (A tested - A blank)/(A untreated control - A blank) × 100. All experiments were performed in quadruplicate.

Combination experiment analysis

To assess the interaction between mitotane and 1a,25(OH)2D3, the Combination Index (CI) according to the Chou-Talalay method [20] was calculated. Based on the dose-response curves and mean IC50 values, cell viability was measured by MTT after 96 h treatment with the indi- vidual agents or in combination at a constant dose ratio (mitotane: 1a,25(OH)2D3=1:1.42847), and a series of CI values was generated over a range of growth inhibition lev- els. Values of CI <1, =1, and> 1 indicate synergistic, addi- tive and antagonistic effects, respectively. The ‘CompuSyn’ software 3.0.1 (ComboSyn inc. Paramus, NJ, USA) was used for CI calculation.

Flow cytometry assessment of cell cycle and apoptosis

Cell cycle status was studied by propidium iodide (Sigma- Aldrich) staining. Briefly, H295R cells were plated in six-well plates at a density of 1 × 10° cells/well and were either untreated or treated for 96 h with mitotane and 1a,25(OH)2D3, individually or in combination. Apoptosis was then assessed by the Annexin V-FITC Apoptosis detec- tion Kit (Bender MedSystems, Vienna, Austria) in accord- ance with the manufacturer’s protocol. Cell cycle and apop- tosis were analyzed three times, using the CytoFLEX flow cytometer (Beckman Coulter, Milano, Italy) and data were analyzed with CytExpert flow cytometry analysis software (Beckman Coulter, Pasadena, CA, USA). Experiments were performed in triplicate.

Wound healing assay

Cells were plated in six-well plates at 2× 10° cells/well and were allowed to grow until confluence. A scratch wound was then applied with a 200 ul pipette tip before starting 96 h treatment with mitotane (10 µM) or 1a,25(OH)2D3 (3 M) individually and in combination. At the end of the treatment, the medium was replaced with fresh complete culture medium and the plates were incubated for a further 72 h without treatment (i.e., up to an overall time of 168 h). The average distance of migrating cells was measured under an inverted microscope (40 x) at 0 h and 168 h. Experi- ments were performed in triplicate. In accordance with our

and other previous studies [21-23], timing of experimental observations was based on considering the relatively long doubling time (~72 h) of H295R cell population in culture.

Western blotting

H295R cell lysates (10 µg of protein) were fractionated into cytoplasmic and nuclear fractions with NE-PER Nuclear and Cytoplasmic Extraction Reagent Kit (ThermoFisher Scien- tific) according to the manufacturer’s protocol. Briefly, pro- teins were extracted, loaded onto SDS/PAGE-GEL (Thermo Fisher Scientific), and electro-blotted onto nitrocellulose membranes. Membranes were then blocked with 5% BSA 0.1% (v/v) Tween20 in TBS for 1 h at room temperature, and incubated overnight at 4 ℃ with different primary antibod- ies. The antibodies applied are as follows: anti-beta-actin, Clone AC-15 (1/10,000, monoclonal) (Sigma-Aldrich), anti-beta-catenin (1/1000, monoclonal) (BD Transduction Laboratories, East Rutherford. NJ, USA), and VDR (1/500, polyclonal) (Santa Cruz Biotechnology, Inc., Santa Cruz, CA, USA). The membranes were then washed and incu- bated for 1 h at room temperature with 1/8000 dilution (anti- mouse) IRDye secondary antibody (Li-Cor Biosciences, Lincoln, Nebraska, USA). Immunoreactivity was detected by Odyssey CLX system (Li-Cor Biosciences, Lincoln, NE, USA) infrared scanner and the signal intensity quantified by ImageJ analytical software. Experiments were performed in triplicate.

Quantitative real-time PCR (qRT-PCR)

Total cellular RNA was extracted from H295R cells treated with or without mitotane 10 µM, with or without 1a,25(OH)2D3 3 µM, and with or without their combina- tion for 96 h, using a Qiagen RNeasy Mini Kit (QIAGEN GmbH, Hilden, Germany) in accordance to the manufactur- er’s protocol. Gene expression levels of VDR, beta-catenin,

N-Cadherin (CDH-2), c-Myc, Dickkopf-related protein-1 (DKK-1) and beta-actin (as housekeeping gene) were eval- uated by quantitative real-time (qRT)-PCR using a Sybr Green Assay kit (Thermo Fisher Scientific). The primer sequences are summarized in Table 1.

Data were obtained as Ct values and used to determine AC, values (AC)=C, of the target gene minus Ct of the housekeeping gene). The equation 2-44Ct was applied to calculate the fold changes in gene expression between the categories of samples.

Statistical analysis

All statistical calculations were performed using GraphPad Prism, version 5.03 for Windows (GraphPad Software, San Diego, CA, USA) and Microsoft Excel software. Results are expressed as mean + SD. Data were tested for normal distribution using the Kolmogorov-Smirnov test, and dif- ferent groups were compared by ANOVA with Bonferroni correction. A P value <0.05 was considered statistically significant.

Results

Effects of mitotane and 1a,25(OH)2D3 on H295R cell viability and growth

The effects of mitotane and 1a,25(OH)2D3 on H295R cell viability were evaluated 24 and 96 h post treatment and compared with untreated control cells. Treatment of H295R cells with increasing concentrations of mitotane (0.1-100 µM) led to a reduction in cell growth in a dose and time-dependent manner (Fig. 1a) with an IC50 of 10 µM. Similarly, 1a,25(OH)2D3 inhibited H295R cell

Table 1 Human-specific primers pair sequence for real- time PCR
GenePrimers pair sequenceBase pair
VDRF: GAAGCCTTTGGGTCTGAAGTG R: CCGCCATTGCCTCCATCC96
beta-cateninF: CTTGCTCAGGACAAGGAAGC R: CATATGTCGCCACACCTTCA103
DKK-1F: GATCATAGCACCTTGGATGGG R: GGCACAGTCTGATGACCGG226
CDH-2F: TCCAGACCCCAATTCAATTAATATTAC R: AAAATCACCATTAAGCCGAGTGA139
c-MycF: AATGAAAAGGCCCCCAAGGTAGTTATCC R: GTCGTTTCCGCAACAAGTCCTCTTC112
beta-actinF: GGGACGACATGGAGAAAATCTG R: CACGCAGCTCATTGTAGAAGGT51
Fig. 1 MTT assay. a H295R cell viability evaluated after exposure to increasing concen- trations of mitotane (0.1- 100 µM) and b 1a,25(OH)2D3 (0.1-10 µM) for 24 h and 96 h. Results are expressed as a per- cent of viable cells vs untreated control cells. Data are depicted as the mean of three experi- ments performed in triplicate

A

120

100

% cell viability

80

60

24h

40

96h

20

0

0

0,001 μΜ 0,01 μ.Μ

0,1 μ.Μ

1 μΜ

10 μΜ

50 μ.Μ

100 μ.Μ

[Mitotane]

B

120

100

% cell viability

80

60

24h

96h

40

20

0

0

0,001μΜ

0,01μΜ

0,1μΜ

1μΜ

10μ.Μ

[1a,25(OH)2D3]

proliferation in a dose and time-dependent manner as well with an IC50 of 3 uM (Fig. 1b). On the basis of this information, we decided to use the IC50 concentration (10 µM for mitotane and 3 µM for 1x,25(OH)2D3 for both the agents individually or in combination in all subsequent experiments.

Effects of combination treatments on H295R cell viability

A dose-effect curve of H295R cells at 96 h showed an increase of fractional cell viability (Fa) with the use of increasing concentrations of both the agents individu- ally or in combination (Fig. 2a) in addition, five different mitotane-1a,25(OH)2D3 combination concentrations were tested with an additive effect on cell growth inhibition being observed at a mean CI of 1.02 (Fig. 2b).

Cell-cycle alteration and induction of apoptosis

Flow cytometry analysis was used to analyze the effects of mitotane, 1a,25(OH)2D3 and their combination, on cell- cycle phase distribution and apoptosis. We used the IC50 dose obtained from the MTT dose-response curves at 96 h.

Mitotane modified the cell cycle of H295R cells whereby 20% of the cells were observed in sub-G0 phase compared to control (10%). Furthermore, a concomitant reduction of cells in G0-G1, S and G2/M phases, from 53%, 13% and 24% (untreated cells) to 51%, 10% and 19% following treatment was also observed (Fig. 3a, b). Interestingly, 1a,25(OH)2D3 also led to a cell cycle growth arrest with an increase in GO-G1 phase, from 53% (untreated cells) to 64% post treat- ment. A concomitant reduction in S and G2/M phases, from 13 to 24% (untreated cells) to 8% and 16% following treat- ment was also observed (Fig. 3a, b). A combination treat- ment of mitotane and 1a,25(OH)2D3 also induced a cell

Fig. 2 Dose-effect evaluation and Combination Index (CI). a Dose- effect curves of H295R cells after exposure to mitotane concentra- tions (ranging from 12.6 to 4.2 uM), 1a,25(OH)2D3 concentrations (ranging from 18 to 6 uM), and their combination treatment for 96 h. Values were plotted as fractional cell viability (Fa) values, cor- responding to percentage cell viability relative to untreated control cells. Data represents three independent experiments performed in quadruplicate; b Combination Index (CI) plot. The mean CI, derived from five mitotane + 1a,25(OH)2D3 combined concentrations, was 1.02, indicating additive effect of the two agents

A

1

Fa

0.5

Mitotane

1a,25(OH), D3

Mitotane+1a,25(OH),D3

0

0

Dose

50

B

2

Mitotane+1a,25(OH),D3

CI

0

0

0.5

1

Fa

cycle modification, whereby a marked increase of cells in sub-G0 phase (23%) was observed compared to untreated cells (10%). In addition, a concomitant reduction in GO-G1, S and G2/M phases, from 53%, 13%, 24% (in untreated cells) to 51%, 7%, 19% was also observed following treatment (Fig. 3a, b).

Analysis of apoptosis showed no significant difference in necrotic cells or cells in early/late apoptosis between controls and cells treated with both the agents individually. However, a combination treatment was highly effective in increasing

necrotic cells (from 4% in untreated to 10% in treated cells) and reducing viable cells (from 94% in untreated to 87% in treated cells), while no change was observed in early/late apoptosis (Fig. 4a, b).

Inhibition of cell migration in wound healing assay

The ability of H295R cells to migrate after an exposure of 96 h to mitotane or 1a,25(OH)2D3 or their combination, followed by a further 72 h incubation without treatment, was tested by a wound-healing assay. Migration of H295R cells decreased from 63% (for untreated cells) to 24% with mitotane, and to 33% with 1a,25(OH)2D3, respectively. Fur- thermore, the reduction in migration ability was even greater (3%, P <0.05) following a combination treatment of mito- tane + 1a,25(OH)2D3 (Fig. 5a, b).

Modulation of Wnt/beta-catenin and VDR signaling pathways

Western blotting was used to assess the presence of beta- catenin and VDR proteins, and their intracellular localiza- tion, as well the effects of mitotane and 1x,25(OH)2D3 on Wnt/beta-catenin and VDR signaling. VDR and beta-catenin were both detected in H295R cells with the former more evident in nuclear extracts while the latter was expressed at both the cytoplasmic and nuclear level (Fig. 6a).

As shown in Fig. 6b-d, treatment with mitotane was unable to induce significant changes, in beta-catenin (cyto- plasmic/nuclear) or VDR (nuclear) expression. Interestingly, 1a,25(OH)2D3 had no effect on cytoplasmic beta-catenin, but a reduction in the nuclear expression of beta-catenin (P <0.05) and an increase in nuclear VDR expression (P <0.05) was observed. A combination treatment of mito- tane with 1a,25(OH)2D3 had no significant effect on beta- catenin (nuclear/cytoplasm) and VDR expression in com- parison with control.

We further examined the effects of the two agents and their combination treatment on H295R cell gene expres- sion of VDR, beta-catenin and beta-catenin related factors (Table 1), by qRT-PCR. As shown in Fig. 7a, b, treatment with mitotane had no effect on VDR and beta-catenin mRNA levels. At variance, la,25(OH)2D3 induced a slight decrease in beta-catenin mRNA levels and a significant increase of VDR mRNA levels (P<0.01). In addition, a combined treatment caused a further reduction in beta-catenin mRNA levels as well as a further increase of VDR mRNA lev- els. mRNA expression levels of N-Cadherin (CDH-2), a calcium-sensitive cell adhesion molecule regulating beta- catenin and found to be down-regulated in ACCs [24], and c-Myc, a downstream effector of Wnt/beta-catenin sign- aling, were unchanged by each single treatment or their combination (data not showed). mRNA levels of DKK-1,

Fig. 3 Cytofluorimetric cell cycle analysis. a H295R cells untreated or treated for 96 h with mitotane, la,25(OH)2D3, and their combi- nation. The cell percentage of different phases (sub-GO, GO-G1, S,

A

100%

24

19

16

19

80%

10

8

7

Cell population (%)

13

60%

G2/M

51

51

OS

40%

64

53

GO-G1

O sub GO

20%

20

23

10

12

0%

Control

Mitotane 10uM

1a,25(OH)2D33uM

Mitotane 10uM +

1a,25(OH)2D33uM

G2/M) are indicated in each plot. Experiments were performed in triplicate; b representative image of cell cycle distribution in H295R cells after 96 h treatment, and in untreated control cells

B

(x 101)

100

(x101)

100

Sub00(8,91%)

Sub00(22,00%)

00-01(51,23%)

00-01(46,58%)

Court

H

4

Court

A

02-M(20,00%)

8

G2-M(16,92%)

$(11,42%)

S(8,45%)

0

.

0

50

ECD-A

100

0

50

(x10)

ECD-A

100

(x10)

Control

Mitotane 10uM

(x101)

100

(x101)

100

Sub00(8,80%)

00-01(63,62%)

Sub00(20,60%)

00-01(54,35%)

Court

Court

8

02-M(14,89%)

8

02-M(11,42%)

S(7,42%)

S(9.20%)

.

o

0

50

ECD-A

100

(x10)

0

50

ECD-A

100

(x 10)

1a,25(OH)2D3 3uM

Mitotane 10uM +

1a,25(OH), D3 3uM

Fig. 4 Apoptosis analysis. a Plots showing the percentage of H295R viable cells, necrotic cells, late apoptotic and early apoptotic cells, after 96 h of treatment with or without mitotane, 1x,25(OH)2D3 or their combination. Experiments were performed in triplicate. b Rep- resentative flow cytometry analysis of H295R cells treated with or without mitotane, 1x,25(OH)2D3, and their combination for 96 h

B

3

Necrosis(0,02%)

Late apoptosis(0,01%)

2

Necrosis(7,76%)

Labe apoptosis(1,81%)

5

3

A

PIECO-A

O

PIECD-A

105

100%

4

4

5

1

1

NH

4

HH

10

10*

HN

3

80%

Necrosis

·

Early apoptosis(0.01%)

0

Early apoptosis(1,53%)

0

10ª

10º

100

0

104

10º

10ª

Annexin V FITO.A

Annexin V FITO-A

Cell population (%)

Late apoptosis

Control

Mitotane 10uM

60%

Early apoptosis

3

Necrosis(6,8%)

Lice apoptosis(1,37%)

94

3

Necrosis(17,51%)

Late apoptosis(3,23%)

93

94

40%

87

Viable cells

O

3

PIECO-A

105

PIECO-A

10º

20%

5

104

0%

Control

Mitotane 10uM

1a, 25(OH)2D33uM

Mitotane 10uM+

0

Mable cells(90 83%)

Early apoptosis(0,97%)

104

105

10º

o

Mable cells(78,69%)

Early apoptosis(0,58%)

1a,25(OH)2D33uM

0

Annexin V FITO-A

0

104

10ª

Annexin V FITC.A

10ª

1a,25(OH)2 D3 3uM

Mitotane 10uM +

1a,25(OH)2 D3 3uM

Fig. 5 Wound healing assay. a Quantification of cell migration of H295R cells after 96 h treatment with mitotane, or 1x,25(OH)2D3 3 uM or their combination, and a further 72 h incubation without treatment (i.e., overall time of 168 h). Results are expressed as the percentage of occupied cell area to the initial scratch compared with the corresponding untreated cells after 168 h Data represent the mean

A

B

T=0h

T=168h

100

Control

80

Occupied cell area (%)

Occupied cell area (9%)

Mitotane 10uM

60

**

*

40

T

1a,25(OH), D3 3uM

20

63

24

33

3

Mitotane 10uM + 1a,25(OH), D3 3uM

0

0

Mitotane 10uM

1a,25(OH)2D33uM

Mitotane 10uM +

1a,25(OH)2D33uM

a downstream inhibitor of Wnt/beta-catenin pathway, were also analyzed. We detected the presence of DKK-1 mRNA in H295R cells, where it was observed that treatment with the drugs individually or in combination increased its expression significantly (P<0.05) (Fig. 7c), with a more marked effect with the combined treatment.

Discussion

H295R ACC cells provide the most appropriate preclinical model for testing drug-mediated effects on adrenal prolif- eration and steroidogenesis [25]. 1a,25(OH)2D3 elicits anti- tumor effects mainly through the induction of cancer cell apoptosis, cell cycle arrest, differentiation, angiogenesis and inhibition of cell invasiveness, and is known to potentiate the anti-tumor activities of multiple chemotherapeutics agents [8, 26-28]. As reported previously [18], we confirmed a (strong) negative effect of 1a,25(OH)2D3 on H295R cell viability using MTT. This effect was potentiated in combi- nation with mitotane at a concentration (10 uM) lower than the therapeutic range (i.e. 14-20 mg/l) in vivo in humans. Reduction of cell growth was dose- and time-dependent for either mitotane or 1a,25(OH)2D3, and the Combination Index indicated that the effect was of an additive type. This additive effect was also observed in a wound healing study, whereby both mitotane and 1a,25(OH)2D3 decreased the ability of H295R cells to migrate. Furthermore, the effect was more marked when using both the drugs in combination.

of nine measurements, with experiments performed in triplicate. (treatment vs control, *P<0.05); b representative image of wound healing assay in H295R cells after 96 treatment with mitotane, or 1a,25(OH)2D3 3 uM or their combination, and a further 72 h incuba- tion without treatment (i.e., overall time of 168 h)

Analyses of flow cytometry data revealed that mitotane as an individual treatment was able to moderately increase necro- sis of H295R cells, in line with other studies [29]. The dif- ference in terms of a lesser percentage of cells death using MTT in comparison with flow cytometry was apparently strong, since the latter procedure implies multiple cell wash- ing, leading per se to a loss of a relevant number of necrotic cells. Furthermore, 1a,25(OH)2D3 induced a cell cycle arrest in G1 phase, confirming our previous data [18]. Mitotane has been shown to potentiate the effect of chemotherapeutic or other agents in human ACC cell lines [30-32]. This seems to apply to our combination study, suggesting its use in a clinical setting. In fact, combination modality of treatment might be useful when mitotane is at the minimal effective doses, i.e. in the initial titration time or in patients intolerant to this drug at the therapeutic range.

A major reason for the lack of an effective targeted treat- ment strategy for ACC is an inadequate understanding of the molecular pathogenesis of the disease [33, 34]. Genetic and epigenetic dysregulations of Wnt/beta-catenin signaling appear to dominate various cancer-driving abnormalities in majority of ACCs [35-37]. Activating mutations of exon 3 of the beta-catenin gene (CTNNB1), that encodes a specific serine/threonine rich domain which is phosphorylated by GSK-3beta and is essential for the targeted degradation of beta-catenin, are found in human cancers including ACCs [38-40]. Of note, the H295R cells harbor the S45P CTNNB1 activating mutation, leading to constitutive beta-catenin- dependent transcription [41]. Treatment of this cell line

A

Cytoplasm

Nucleus

1

2

3

4

1

2

3

4

VDR

beta-actin

Fig. 6 Western blotting. a Representative cytoplasmic and nuclear Western blots showing the expression of beta-catenin, VDR and beta-actin proteins in H295R cells after 96 h treatment with mito- tane, or la,25(OH)2D3 or their combination; b histogram quantifica- tion of cytoplasmic beta-catenin expression; c histogram quantifica-

with the Tcf/beta-catenin antagonist PKF115-584 inhibits the transcriptional effect of beta-catenin and decreases cell proliferation [41]. Silencing mutated beta-catenin inhibits cell proliferation and stimulates apoptosis [42]. Altogether, these findings establish the aberrant Wnt/beta-catenin path- way activation as a potential therapeutic target in ACC.

VDR activation has been also shown to antagonize the Wnt/beta-catenin pathway through several mechanisms in human and murine colon cancer [43]. In cell lines derived from this cancer, VDR activation promotes transcriptional upregulation of E-cadherin, which inhibits beta-catenin nuclear localization and induces translocation to adherens junction on the plasma membrane [44]. In addition, ligand- dependent VDR-signaling increases the mRNA expression of DKK-1, an inhibitor of the canonical Wnt signaling path- way, preventing activation of beta-catenin [45]. Western blot data on H295R cells showed that mitotane alone did not induce relevant alterations of beta-catenin and VDR expres- sion, while 1a,25(OH)2D3 caused a significant reduction of nuclear beta-catenin expression and a parallel elevation of nuclear VDR expression. On the other hand, a combination

beta-catenin

tion of nuclear beta-catenin expression; d histogram quantification of nuclear VDR expression Protein expression was normalized by beta-actin expression. 1 untreated control cells; 2 mitotane 10 uM; 3 1a,25(OH)2D3 3 uM; 4 mitotane 10 uM+1x,25(OH)2D3 3 uM, *P<0.05

B

cytoplasmic beta-catenin

Mean band density (arbitrary unit)

1,2

1

T

0,8

T

T

T

0,6

0,4

0,2

0

1

2

3

4

nuclear beta-catenin

1,2

Mean band density (arbitrary unit)

1

0,8

0,6

0,4

T

*

0,2

0

1

2

3

4

nuclear VDR

Mean band density (arbitrary unit

4

*

3

2

1

0

1

2

3

4

treatment was unable to confirm the same reciprocal changes in nuclear beta-catenin and VDR expression as seen using 1a,25(OH)2D3 alone. At variance, at the molecular level, a combination of the two agents downregulated beta-catenin mRNA levels and upregulated VDR mRNA levels, greater than those obtained on applying 1a,25(OH)2D3 as an indi- vidual treatment. With regard to this, we speculate a negative interference of the combined presence of the two agents on antibody binding during blotting.

Regarding other key components of Wnt signaling, either mitotane or 1a,25(OH)2D3 as single agents, or their combination treatment, markedly increased the expression of DKK-1, which was associated with a strong reduction in nuclear beta-catenin expression. Tumor-suppressor like properties of DKK-1 are activated by vitamin D in cancer [45], and this may occur in ACC. mRNA levels of N-Cad- herin and c-Myc were not modified by any treatment in H295R cells. These results are in line with some reports [46] ], and in contrast with others [47].

The concentration of 1a,25(OH)2D3 at which an anti- proliferative effect on H295R cells in combination with

Fig. 7 qRT-PCR. mRNA levels of a beta-catenin, b VDR and c DKK- 1 in H295R cells after treatment with mitotane, 1x,25(OH)2D3, and their combination. Data are expressed as fold changes compared to beta-actin expression (2-44Ct), *P<0.05; ** P <0.01

A

Relative gene expression

2

beta-catenin

1,5

1

0,5

0

Control

Mitotane 10 UM

1a,25(OH)2D33uM

Mitotane 10uM+

1a,25(OH)2D33 uM

B

VDR

Relative gene expression

4

3,5

3

2,5

2

T

1,5

1

0,5

0

Control

Mitotane 10 μ.Μ

1a,25(OH)2D33uM

Mitotane 10uM+

1a,25(OH)2D33uM

C

DKK-1

Relative gene expression

4

3,5

3

2,5

2

1,5

1

0,5

0

Control

Mitotane 10 μ.Μ

1a,25(OH)2D33uM

Mitotane 10uM+

1a,25(OH)2D33uM

mitotane was observed, were supra-physiological when com- pared with those normally circulating in humans. In a recent study among patients with advanced or metastatic colorectal cancer, the addition of a high-dose of vitamin D3 together with chemotherapy resulted in a significantly improved sup- portive hazard ratio [48]. In this regard, hypercalcemia is the dose-limiting factor for the application of 1x,25(OH)2D3 in the clinic, particularly when continuous dosing schedules are employed. Efforts are currently underway to develop vitamin D analogs of 1a,25(OH)2D3 that dissociate the anti-prolif- erative and calcemic effects, raising the possibility of using vitamin D analogs with anti-proliferative potency at much lower concentrations [49]. Many vitamin D analogues have been in fact synthesized in search for VDR agonists with bet- ter ratio of activity: side effects at high therapeutic doses and some of them show a promising profile in preclinical settings [49, 50]. The main limitation of our study remains indeed

the unknown pharmacodynamic and metabolic interaction between mitotane and bioactive vitamin D in vivo. In fact, mitotane stimulates CYP3A4 expression, which potentially leads to reduced 25(OH)D3 and 1a,25(OH)2D3 bioavailabil- ity [51], limiting an in vivo application. Therefore, caution has to be maintained before translating the results into a clinical perspective.

In conclusion, our results show an additive effect of 1a,25(OH)2D3 and mitotane on the inhibition of adreno- cortical H295R cell growth and viability, and suggest that molecular mechanisms of their effects may involve a func- tional link between VDR and Wnt/beta-catenin pathways.

Acknowledgements This study was partially supported by HRA Pharma (Grant no. 266) (Paris, France).

Compliance with ethical standards

Conflict of interest The authors declare that they have no conflict of interest.

Ethical approval This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent No informed consent was needed since no human participants are included in the manuscript.

References

1. Else T, Kim AC, Sabolch A, Raymond VM, Kandathil A, Caoili EM, Jolly S, Miller BS, Giordano TJ, Hammer GD (2014) Adren- ocortical carcinoma. Endocr Rev 35(2):282-326

2. Stigliano A, Chiodini I, Giordano R, Faggiano A, Canu L, Della Casa S, Loli P, Luconi M, Mantero F, Terzolo M (2016) Man- agement of adrenocortical carcinoma: a consensus statement of the Italian Society of Endocrinology (SIE). J Endocrinol Investig 39(1):103-121

3. Paragliola RM, Torino F, Papi G, Locantore P, Pontecorvi A, Cor- sello SM (2018) Role of mitotane in adrenocortical carcinoma- review and state of the art. Eur Endocrinol 14(2):62-66

4. Fassnacht M, Dekkers OM, Else T, Baudin E, Berruti A, de Kri- jger R, Haak HR, Mihai R, Assie G, Terzolo M (2018) European Society of Endocrinology Clinical Practice Guidelines on the management of adrenocortical carcinoma in adults, in collabora- tion with the European Network for the Study of Adrenal Tumors. Eur J Endocrinol 179(4):G1-G46

5. Waszut U, Szyszka P, Dworakowska D (2017) Understanding mitotane mode of action. J Physiol Pharmacol 68(1):13-26

6. Terzolo M, Baudin AE, Ardito A, Kroiss M, Leboulleux S, Daf- fara F, Perotti P, Feelders RA, de Vries JH, Zaggia B, De Francia S, Volante M, Haak HR, Allolio B, Al Ghuzlan A, Fassnacht M, Berruti A (2013) Mitotane levels predict the outcome of patients with adrenocortical carcinoma treated adjuvantly following radi- cal resection. Eur J Endocrinol 169(3):263-270

7. Rosen CJ, Adams JS, Bikle DD, Black DM, Demay MB, Man- son JE, Murad MH, Kovacs CS (2012) The nonskeletal effects of vitamin D: an Endocrine Society scientific statement. Endocr Rev 33(3):456-492

8. Ma Y, Trump DL, Johnson CS (2010) Vitamin D in combination cancer treatment. J Cancer 1:101-107

9. Vuolo L, Di Somma C, Faggiano A, Colao A (2012) Vitamin D and cancer. Front Endocrinol (Lausanne) 3:58

10. Feldman D, Krishnan AV, Swami S, Giovannucci E, Feldman BJ (2014) The role of vitamin D in reducing cancer risk and progression. Nat Rev Cancer 14(5):342-357

11. Yang L, Ma J, Zhang X, Fan Y, Wang L (2012) Protective role of the vitamin D receptor. Cell Immunol 279(2):160-166

12. Leyssens C, Verlinden L, Verstuyf A (2013) Antineoplastic effects of 1,25(OH)2D3 and its analogs in breast, prostate and colorectal cancer. Endocr Relat Cancer 20(2):R31-R47

13. Umar M, Sastry KS, Chouchane AI (2018) Role of vitamin D beyond the skeletal function: a review of the molecular and clinical studies. Int J Mol Sci 19(6):1618

14. Johnson AL, Zinser GM, Waltz SE (2015) Vitamin D3-depend- ent VDR signaling delays ron-mediated breast tumorigen- esis through suppression of -catenin activity. Oncotarget 6(18):16304-16320

15. Ferrer-Mayorga G, Larriba MJ, Crespo P, Muñoz A (2019) Mech- anisms of action of vitamin D in colon cancer. J Steroid Biochem Mol Biol 185:1-6

16. Muscogiuri G, Altieri B, Penna-Martinez M, Badenhoop K (2015) Focus on vitamin D and the adrenal gland. Horm Metab Res 47(4):239-246

17. Tirabassi G, Salvio G, Altieri B, Ronchi CL, Della Casa S, Pon- tecorvi A, Balercia G (2017) Adrenal disorders: is there any role for vitamin D? Rev Endocr Metab Disord 18(3):355-362

18. Pilon C, Urbanet R, Williams TA, Maekawa T, Vettore S, Sirianni R, Pezzi V, Mulatero P, Fassina A, Sasano H, Fallo F (2014) 1a,25-Dihydroxyvitamin D3 inhibits the human H295R cell pro- liferation by cell cycle arrest: a model for a protective role of vita- min D receptor against adrenocortical cancer. J Steroid Biochem Mol Biol 140:26-33

19. Pilon C, Rebellato A, Urbanet R, Guzzardo V, Cappellesso R, Sasano H, Fassina A, Fallo F (2015) Methylation status of vitamin D receptor gene promoter in benign and malignant adrenal tumors. Int J Endocrinol 2015:375349

20. Chou TC (2010) Drug combination studies and their synergy quantification using the Chou-Talalay method. Cancer Res 70(2):440-446

21. Fallo F, Pilon C, Barzon L, Pistorello M, Pagotto U, Altavilla G, Boscaro M, Sonino N (1996) Effects of taxol on the human NCI-H295 adrenocortical carcinoma cell line. Endocr Res 22(4):709-715

22. Drelon C, Berthon A, Mathieu M, Ragazzon B, Kuick R, Tab- bal H, Septier A, Rodriguez S, Batisse-Lignier M, Sahut-Barnola I, Dumontet T, Pointud JC, Lefrançois-Martinez AM, Baron S, Giordano TJ, Bertherat J, Martinez A, Val P (2016) EZH2 is over- expressed in adrenocortical carcinoma and is associated with dis- ease progression. Hum Mol Genet 25(13):2789-2800

23. Aronova A, Min IM, Crowley MJP, Panjwani SJ, Finnerty BM, Scognamiglio T, Liu YF, Whitsett TG, Garg S, Demeure MJ, Elemento O, Zarnegar R, Fahey TJ III (2018) STMN1 is overex- pressed in adrenocortical carcinoma and promotes a more aggres- sive phenotype in vitro. Ann Surg Oncol 25(3):792-800

24. Rubin B, Regazzo D, Redaelli M, Mucignat C, Citton M, Iaco- bone M, Scaroni C, Betterle C, Mantero F, Fassina A, Pezzani R, Boscaro M (2010) Investigation of N-cadherin/ß-catenin expres- sion in adrenocortical tumors. Tumour Biol 37(10):13545-13555

25. Wang T, Rainey WE (2012) Human adrenocortical carcinoma cell lines. Mol Cell Endocrinol 351(1):58-65

26. Minisola S, Ferrone F, Danese V, Cecchetti V, Pepe J, Cipriani C, Colangelo L (2019) Controversies surrounding vitamin D: focus on supplementation and cancer. Int J Environ Res Public Health 16(2):189

27. Ebeling PR, Adler RA, Jones G, Liberman UA, Mazziotti G, Mini- sola S, Munns CF, Napoli N, Pittas AG, Giustina A, Bilezikian JP, Rizzoli R (2018) Management of endocrine disease: therapeutics of vitamin D. Eur J Endocrinol 179(5):R239-R259

28. Scragg RKR (2019) Overview of results from the vitamin D assessment (ViDA) study. J Endocrinol Investig. https://doi. org/10.1007/s40618-019-01056-z (Epub ahead of print)

29. Poli G, Guasti D, Rapizzi E, Fucci R, Canu L, Bandini A, Cini N, Bani D, Mannelli M, Luconi M (2013) Morphofunctional effects of mitotane on mitochondria in human adrenocortical cancer cells. Endocr Relat Cancer 20(4):537-550

30. Germano A, Rapa I, Volante M, Lo Buono N, Carturan S, Berruti A, Terzolo M, Papotti M (2014) Cytotoxic activity of gemcitabine, alone or in combination with mitotane, in adrenocortical carci- noma cell lines. Mol Cell Endocrinol 382(1):1-7

31. De Martino MC, van Koetsveld PM, Feelders RA, Lamberts SW, de Herder WW, Colao A, Pivonello R, Hofland LJ (2016) Effects of combination treatment with sirolimus and mitotane on growth of human adrenocortical carcinoma cells. Endocrine 52(3):664-667

32. Boulate G, Amazit L, Naman A, Seck A, Paci A, Lombes A, Pussard E, Baudin E, Lombes M, Hescot S (2019) Potentiation of mitotane action by rosuvastatin: new insights for adrenocortical carcinoma management. Int J Oncol 54(6):2149-2156

33. Lehmann T, Wrzesinski T (2012) The molecular basis of adreno- cortical cancer. Cancer Genet 205(4):131-137

34. Armignacco R, Cantini G, Canu L, Poli G, Ercolino T, Mannelli M, Luconi M (2018) Adrenocortical carcinoma: the dawn of a new era of genomic and molecular biology analysis. J Endocrinol Investig 41(5):499-507

35. El Wakil A, Lalli E (2011) The Wnt/beta-catenin pathway in adrenocortical development and cancer. Mol Cell Endocrinol 332(1-2):32-37

36. Berthon A, Martinez A, Bertherat J, Val P (2012) Wnt/ß-catenin signalling in adrenal physiology and tumour development. Mol Cell Endocrinol 351(1):87-95

37. Heaton JH, Wood MA, Kim AC, Lima LO, Barlaskar FM, Almeida MQ, Fragoso MC, Kuick R, Lerario AM, Simon DP, Soares IC, Starnes E, Thomas DG, Latronico AC, Giordano TJ, Hammer GD (2012) Progression to adrenocortical tumorigenesis in mice and humans through insulin-like growth factor 2 and B-catenin. Am J Pathol 181(3):1017-1033

38. Gaujoux S, Tissier F, Groussin L, Libé R, Ragazzon B, Launay P, Audebourg A, Dousset B, Bertagna X, Bertherat J (2008) Wnt/ beta-catenin and 3’,5’-cyclic adenosine 5’-monophosphate/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors. J Clin Endocrinol Metab 93(10):4135-4140

39. Tissier F, Cavard C, Groussin L, Perlemoine K, Fumey G, Hag- neré AM, René-Corail F, Jullian E, Gicquel C, Bertagna X, Vacher-Lavenu MC, Perret C, Bertherat J (2005) Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt sign- aling pathway is a frequent event in both benign and malignant adrenocortical tumors. Cancer Res 65(17):7622-7627

40. Tadjine M, Lampron A, Ouadi L, Bourdeau I (2008) Frequent mutations of ß-catenin gene in sporadic secreting adrenocortical adenomas. Clin Endocrinol (Oxf) 68(2):264-270

41. Doghman M, Cazareth J, Lalli E (2008) The T cell factor/ beta-catenin antagonist PKF115-584 inhibits proliferation of adrenocortical carcinoma cells. J Clin Endocrinol Metab 93(8):3222-3225

42. Gaujoux S, Hantel C, Launay P, Bonnet S, Perlemoine K, Lefèvre L, Guillaud-Bataille M, Beuschlein F, Tissier F, Bertherat J, Rizk- Rabin M, Ragazzon B (2013) Silencing mutated ß-catenin inhibits cell proliferation and stimulates apoptosis in the adrenocortical cancer cell line H295R. PLoS One 8(2):e55743

Springer

43. Larriba MJ, González-Sancho JM, Barbáchano A, Niell N, Ferrer- Mayorga G, Muñoz A (2013) Vitamin D is a multilevel repressor of Wnt/beta-catenin signaling in cancer cells. Cancers (Basel) 5(4):1242-1260

44. Pálmer HG, González-Sancho JM, Espada J, Berciano MT, Puig I, Baulida J, Quintanilla M, Cano A, de Herreros AG, Lafarga M, Muñoz A (2001) Vitamin D3 promotes the differentiation of colon carcinoma cells by the induction of E-cadherin and the inhibition of beta-catenin signaling. J Cell Biol 154(2):369-387

45. Pendás-Franco N, Aguilera O, Pereira F, González-Sancho JM, Muñoz A (2008) Vitamin D and Wnt/beta-catenin pathway in colon cancer: role and regulation of DICKKOPF genes. Antican- cer Res 28(5A):2613-2623

46. Lehmann TP, Wrzesiński T, Jagodziński PP (2013) The effect of mitotane on viability, steroidogenesis and gene expression in NCI-H295R adrenocortical cells. Mol Med Rep 7(3):893-900

47. Cerquetti L, Sampaoli C, De Salvo M, Bucci B, Argese N, Chi- mento A, Vottari S, Marchese R, Pezzi V, Toscano V, Stigliano A (2015) C-MYC modulation induces responsiveness to paclitaxel in adrenocortical cancer cell lines. Int J Oncol 46(5):2231-2240

48. Ng K, Nimeiri HS, McCleary NJ, Abrams TA, Yurgelun MB, Cleary JM, Rubinson DA, Schrag D, Miksad R, Bullock AJ, Allen

J, Zuckerman D, Chan E, Chan JA, Wolpin BM, Constantine M, Weckstein DJ, Faggen MA, Thomas CA, Kournioti C, Yuan C, Ganser C, Wilkinson B, Mackintosh C, Zheng H, Hollis BW, Mey- erhardt JA, Fuchs CS (2019) Effect of high-dose vs standard-dose vitamin D3 supplementation on progression-free survival among patients with advanced or metastatic colorectal cancer: the SUN- SHINE Randomized Clinical Trial. JAMA 321(14):1370-1379

49. Duffy MJ, Murray A, Synnott NC, O’Donovan N, Crown J (2017) Vitamin D analogues: potential use in cancer treatment. Crit Rev Oncol Hematol 112:190-197

50. Maestro MA, Molnár F, Carlberg C (2019) Vitamin D and its synthetic analogs. J Med Chem 62(15):6854-6875

51. Kroiss M, Quinkler M, Lutz WK, Allolio B, Fassnacht M (2011) Drug interactions with mitotane by induction of CYP3A4 metabo- lism in the clinical management of adrenocortical carcinoma. Clin Endocrinol (Oxf) 75(5):585-591

Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.