病例报告：MSH2 和 RET 种系双突变与肾上腺皮质癌相关。

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, DC, USA.

Laboratory of Pathology, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.

Am J Med Genet A. 2021 Apr;185(4):1282-1287. doi: 10.1002/ajmg.a.62099. Epub 2021 Feb 21.

Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that originates in the outer layer of the adrenal gland. Most ACCs are sporadic, but a small percentage of cases are due to hereditary cancer syndromes such as Li-Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous polyposis (FAP). Multiple endocrine neoplasia type 2A (MEN2A) is an inherited disorder that predisposes to medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia. We present here a case of ACC with both LS and MEN2A; the family and medical history were consistent with Lynch. This is, to our knowledge, the first report of a patient with ACC associated with germline mutations in RET and MSH2, and no phenotypical characteristics of MEN2A.

肾上腺皮质癌（ACC）是一种罕见的侵袭性恶性肿瘤，起源于肾上腺的外层。大多数 ACC 是散发性的，但一小部分病例是由于遗传癌症综合征，如 Li-Fraumeni 综合征（LFS）、林奇综合征（LS）和家族性腺瘤性息肉病（FAP）。多发性内分泌腺瘤病 2A 型（MEN2A）是一种遗传性疾病，易患甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺增生。我们在此介绍一例同时患有 LS 和 MEN2A 的 ACC 病例；家族和病史与 Lynch 相符。据我们所知，这是首例报道的与 RET 和 MSH2 种系突变相关的 ACC 患者，且无 MEN2A 的表型特征。