Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma
| Autor: | Kazuo Chihara, Miki Mukai, Hidenori Fukuoka, Genzo Iguchi, Yutaka Takahashi, Hironobu Sasano, Yuto Yamazaki, Wataru Ogawa, Kentaro Suda, Michiko Takahashi, Katsumi Shigemura, Hironori Bando, Masahiro Oka, Yukiko Odake, Katsuhiko Ono, Ryusaku Matsumoto, Masato Fujisawa |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Hydrocortisone Endocrinology Diabetes and Metabolism Clinical Biochemistry 030209 endocrinology & metabolism Context (language use) Gene mutation Biochemistry Adrenocortical adenoma Fumarate Hydratase Heart Neoplasms 03 medical and health sciences Cushing syndrome 0302 clinical medicine Endocrinology Germline mutation Internal medicine Medicine Humans business.industry Biochemistry (medical) Myxoma medicine.disease Prognosis Adrenal Cortex Neoplasms 030220 oncology & carcinogenesis Adrenocortical Adenoma cardiovascular system Hereditary leiomyomatosis and renal cell carcinoma business Gene Deletion Primary pigmented nodular adrenocortical disease |
| Zdroj: | The Journal of clinical endocrinology and metabolism. 105(6) |
| ISSN: | 1945-7197 |
| Popis: | Context Germline mutations in fumarate hydratase (FH) gene are known to cause hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and are occasionally accompanied with cutaneous and uterine leiomyoma or cortisol-producing adrenocortical hyperplasia. However, the association between FH mutations and cardiac or adrenocortical tumors has remained unknown. Here, we identified a novel deletion in FH, exhibiting cardiac myxoma and subclinical Cushing syndrome due to adrenocortical tumor. Case Description A 44-year-old man was referred to our hospital for cardiac and adrenal tumor evaluation. He had a history of multiple painful, dermal papules and nodules diagnosed as cutaneous leiomyoma. The surgically resected cardiac tumor was diagnosed as myxoma. The adrenal tumor was clinically diagnosed as subclinical Cushing syndrome. Laparoscopically resected adrenal tumor was pathologically diagnosed as adrenocortical adenoma harboring unique histological findings similar to primary pigmented nodular adrenocortical disease (PPNAD). DNA analysis revealed a germline deletion in FH c0.737delT (p. Phe225Leufs*31) and loss of heterozygosity (LOH) in cardiac myxoma. As a functional analysis of FH in cardiac myxoma, low FH protein expression with elevated 2-succinocysteine (2SC), a marker of FH dysfunction, was immunohistochemically detected. However, in adrenocortical tumor, LOH of FH was not detected, and FH or 2SC expression was not altered. Conclusions This is the first case of HLRCC complicated by cardiac myxoma. LOH of FH deletion and its dysfunction were identified in cardiac myxoma. The association between FH deletion and adrenocortical lesion, however, needs to be further clarified. |
| Databáze: | OpenAIRE |
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