Abstract: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)
syndrome is a recognized distinct phenotypic variant of multiple cutaneous
and uterine leiomyomatosis. The present case reports an extremely rare case
of HLRCC syndrome combined with adrenocortical carcinoma. The case
suggests that HLRCC should be considered in any young patient with bulky
uterine leiomyomas and renal cell cancer, and 18F-FDG PET/CT can help detect
unexpected additional primary malignancy in a patient with known cancer.
Received for publication February 25, 2017; revision accepted June 6, 2017.
From the Department of Nuclear Medicine & Minnan PET Center, Xiamen
Cancer Hospital, The First Affiliated Hospital of Xiamen University,
Xiamen, China.
Conflicts of interest and sources of funding: none declared.
Correspondence to: Hua Wu, PhD, Department of Nuclear Medicine & Minnan
PET Center, Xiamen Cancer Hospital, The First Affiliated Hospital of
Xiamen University, 55 Zhenhai Road, Xiamen 361003, China. E-mail:
wuhua1025@163.com.
Copyright @ 2017 Wolters Kluwer Health, Inc. All rights reserved.
ISSN: 0363-9762/17/4209-0692
DOI: 10.1097/RLU.0000000000001760
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FIGURE 1. A 23-year-old woman presented with a 6-month history of facial edema and central obesity. The patient underwent surgical resection of multiple uterine leiomyomas 1 year ago. Her serum cortisol level was 20.2 µg/dL (reference range, 3.7-19.4 µg/dL), urine cortisol level was 898.5 µg/24 h (reference range, 4.3-176 µg/24 h), and her complete blood counts were within reference ranges. Previous ultrasonogram revealed 2 masses in the region of right adrenal and left kidney. In order to determine the detail localization and specific components of the 2 masses, MRI of the abdomen was performed. Axial opposed-phase T1-weighted MRI (A) showed no signal intensity loss when compared with the in-phase T1-weighted MRI (B) in the 2 lesions, which meant no fat component within the 2 masses. Axial (C) and coronal (D) T2-SPIR MRI scans showed heterogeneous but predominantly hyperintense features in the 2 lesions. Therefore, the right lesion was considered from the adrenal cortex, and MRI diagnosis of adrenocortical carcinoma (ACC) was made based on the signal trait and characteristic clinical presentation. However, the left mass cannot be identified as primary or metastatic tumor.
A
B
C
D
FIGURE 2. Further evaluation was performed using whole-body 18F-FDG PET/CT scan, which showed intensely increased 18F-FDG uptake within the lesions from right adrenal (SUVmax 19.7, SUVaverage 11.9) and left kidney (SUVmax 9.4, SUVaverage 5.6) (A). Axial CT (B), PET (C), and fused PET/CT (D) showed both sides of the lesions. Coronal CT (E), PET (F), and fused PET/CT (G) showed both sides of the lesions more distinctly and intuitively.
A
B
C
D
4
E
F
G
FIGURE 3. The patient underwent radical adrenalectomy of the right adrenal mass (A), and postoperative pathologic analysis was highly indicative of ACC (B). One month later, radical nephrectomy was performed for the left renal mass (C), and postoperative pathologic analysis revealed high-grade papillary renal cell carcinoma (D). Detailed review of this patient's family history revealed that both her mother and sister also received a diagnosis of papillary renal cell carcinoma at a young age. Given the patient's young age and family history, as well as the history of multiple uterine leiomyomas, genetic consultation (fumarate hydratase and 2-succino) was performed. Subsequently, a diagnosis of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome combined with ACC was made. Although this is a relatively new diagnosis with little mention in the diagnostic imaging literature, the presence of renal cell carcinoma and bulky uterine leiomyomas in a young female patient should alert the radiologist to the possibility of HLRCC syndrome. Differential diagnostic consideration in this patient includes sporadic (nonhereditary) renal cell cancer, adrenal adenomas, primary adrenal lymphoma, neuroblastoma, pheochromocytoma, and metastatic renal cancer to the adrenal gland.1-4 Adrenal medullary tumor mostly contains fat component and results in signal loss on chemical-shift MRI. Besides contrast-enhanced CT or MRI,5,6 18F-FDG PET/CT is a helpful imaging modality that allows simultaneous observation of multiple tumors in 1 patient.7,8 In summary, HLRCC syndrome is a rare entity that should be considered in any young patient with bulky uterine leiomyomas and family history of renal cell cancer,9 whereas ACC should be considered in any patient with Cushing syndrome with giant adrenal mass.10