Epithelioid Angiomyolipoma in a Patient With Li-Fraumeni Syndrome: Rare Pathologic Diagnosis

Sina Jasim, MD, MPH; Pheroze Tamboli, MD; Soo-Chin Lee, MD; Louise C. Strong, MD; Khaled Elsayes, MD; Montserrat Ayala-Ramirez, MD; Mouhammed Amir Habra, MD

AACE Clinical Case Reports (Jan 2016)

Epithelioid Angiomyolipoma in a Patient With Li-Fraumeni Syndrome: Rare Pathologic Diagnosis

Sina Jasim, MD, MPH,
Pheroze Tamboli, MD,
Soo-Chin Lee, MD,
Louise C. Strong, MD,
Khaled Elsayes, MD,
Montserrat Ayala-Ramirez, MD,
Mouhammed Amir Habra, MD

Affiliations

Sina Jasim, MD, MPH: From the Department of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota
Pheroze Tamboli, MD: Division of Pathology and Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas
Soo-Chin Lee, MD: Department of Hematology-Oncology, National University Cancer Institute, Singapore
Louise C. Strong, MD: Department of Genetics
Khaled Elsayes, MD: Department of Diagnostic Radiology
Montserrat Ayala-Ramirez, MD: Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Mouhammed Amir Habra, MD: Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas.; Address correspondence to Dr. Mouhammed Amir Habra, Department of Endocrine Neoplasia and Hormonal Disorders, Unit 1461, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030.

Journal volume & issue: Vol. 2, no. 3
pp. e251 – e255

Abstract

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ABSTRACT: Objective: Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome characterized by a high frequency of early onset tumors of various types, including adrenocortical carcinoma. Epithelioid angiomyolipoma (EAML) is an uncommon mesenchymal tumor that has malignant potential and typically found in the kidneys. To our knowledge, this is the first report of adrenal EAML in a patient with LFS.Methods: We report a 26-year-old Asian woman with breast cancer and left adrenal mass that was initially diagnosed as adrenocortical carcinoma and started on adjuvant mitotane therapy. The patient's family history was suggestive of LFS. The patient was referred to our institution for further evaluation.Results: Comprehensive TP53 gene sequencing revealed a missense mutation in exon 8 ([C.817 C>T [p.Arg273 Cys]). Pathologic review revealed large epithelioid tumor cells that stained positive for human melanoma black (HMB)-45, melan-A (A-103), and melanoma antigen recognized by T cells 1 (MART)-1 (Ab3) but stained negative for calretinin, cytokeratin, and S100. In addition, there were few smooth muscle cells with vacuolated cytoplasm. The morphologic features and immunohistochemical staining profile were consistent with EAML; thus, adjuvant mitotane therapy was withheld, and clinical observation was recommended.Conclusion: The differential diagnosis of adrenal masses in patients with LFS includes adrenocortical carcinoma, benign adrenal adenoma, and metastatic tumors. Despite the rarity of EAML in the adrenal gland, it can be added to the differential diagnosis of adrenal masses in patients with LFS. An experienced pathologic review and comprehensive immunohistochemical staining are needed to increase the diagnostic accuracy in adrenal tumors suspicious for adrenocortical carcinoma.Abbreviations: AML = angiomyolipoma EAML = epithelioid angiomyolipoma LFS = Li-Fraumeni syndrome PEComa = perivascular epithelioid cell neoplasm

Published in AACE Clinical Case Reports

ISSN: 2376-0605 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Website: https://www.journals.elsevier.com/aace-clinical-case-reports

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