Ontology highlight
ABSTRACT:
SUBMITTER: Idogawa M
PROVIDER: S-EPMC7515489 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Idogawa Masashi M Hida Tokimasa T Tanaka Toshiaki T Ohira Noriaki N Tange Shoichiro S Sasaki Yasushi Y Uhara Hisashi H Masumori Naoya N Tokino Takashi T Natori Hiroshi H
Cancer biology & therapy 20191217 4
Angiomyolipoma (AML) is classified as a perivascular epithelioid cell neoplasm, mostly occurring in the kidney. Twenty percent of patients with renal AML have tuberous sclerosis complex (TSC) caused by germline variation in the <i>TSC1</i> or <i>TSC2</i> gene. In this paper, we report the first case of renal AML harboring somatic missense mutations of the <i>TSC2</i> gene and concomitant copy-neutral loss of heterozygosity (CN-LOH). The patient presented with solitary renal AML and pulmonary lym ...[more]