SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association

SMARCA4型 肉瘤 生殖系 生物 病理 子宫肉瘤 癌症研究 种系突变 比较基因组杂交 突变 医学 遗传学 表观遗传学 基因 基因组 染色质重塑
作者
Douglas I. Lin,Justin Allen,Jonathan L. Hecht,Jonathan Keith Killian,Nhu Ngo,Claire Edgerly,Eric A. Severson,Siraj M. Ali,Rachel Erlich,Shakti Ramkissoon,Jo‐Anne Vergilio,Jeffrey S. Ross,Julia A. Elvin
出处
期刊:Modern Pathology [Elsevier BV]
卷期号:32 (11): 1675-1687 被引量:59
标识
DOI:10.1038/s41379-019-0303-z
摘要

A rare subset of aggressive SMARCA4-deficient uterine sarcomas has been recently proposed, with only a limited number of cases having been previously described. Here, we identify 16 additional cases of SMARCA4-deficient uterine sarcoma from the database of a large, CLIA-certified and CAP-accredited, reference molecular laboratory, and we expand on their clinicopathological and genomic features. Median patient's age was 49 years (range 32–70). Most tumors were aggressive with distant metastasis. SMARCA4-deficient uterine sarcoma demonstrated predominantly rhabdoid or large epithelioid cells with abundant cytoplasm, but also had varying degrees of small cell and spindle cell morphology. Tumors were microsatellite stable and exhibited no other or only few co-occurring genomic alterations by comprehensive genomic profiling. We discovered one patient, who developed SMARCA4-deficient uterine sarcoma at the age of 55, had a germline SMARCA4 mutation, whose daughter had previously died of small cell carcinoma of the ovary, hypercalcemic type, at the age of 32. Our data support the notion that SMARCA4 inactivation is the driver oncogenic event of a morphologically and molecularly distinct form of uterine sarcoma. Identification of SMARCA4-deficient uterine sarcomas may be clinically important due to their aggressive behavior, germline association, and emerging targeted therapies.
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