Uterine angiosarcoma associated with lymphangioleiomyomatosis in a patient with tuberous sclerosis complex: an autopsy case report with immunohistochemical and genetic analysis

Takuo Hayashi, Kengo Koike, Toshio Kumasaka, Tsuyoshi Saito, Keiko Mitani, Yasuhisa Terao, Daiki Ogishima, Takashi Yao, Satoru Takeda, Kazuhisa Takahashi, Kuniaki Seyama
Human pathology · 2012 · vol. 43(10) , pp. 1777–1784 · doi:10.1016/j.humpath.2012.03.020 · PMID:22748302 · W2015488691
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This autopsy case report details a patient with tuberous sclerosis complex who presented with uterine angiosarcoma and lymphangioleiomyomatosis, and includes immunohistochemical and genetic analysis.

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Abstract

A 41-year-old woman carrying a germline tuberous sclerosis complex 2 (TSC2) mutation, whose regular medical follow-up for tuberous sclerosis complex and tuberous sclerosis complex-associated lymphangioleiomyomatosis had continued for 2 years, had uterine angiosarcoma concomitant with uterine lymphangioleiomyomatosis. Immunohistochemically, the uterine angiosarcoma cells showed an extremely skewed lymphatic differentiation; they were diffusely immunopositive for CD31 but negative for other vascular endothelial markers including factor VIII and CD34 yet strongly immunopositive for lymphatic endothelial markers including D2-40 and Prox-1. Loss of heterozygosity analysis demonstrated that not only lymphangioleiomyomatosis and renal angiomyolipoma but also the uterine angiosarcoma had loss of heterozygosity on TSC2. Furthermore, direct sequencing revealed a TP53 mutation in the uterine angiosarcoma. Collectively, the findings suggest that combined dysfunction of the p53 and TSC2 tumor suppressor proteins may contribute to the development of uterine angiosarcoma in this rare clinical setting.

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MeSH descriptors

Hemangiosarcoma Lymphangioleiomyomatosis Tuberous Sclerosis Uterine Neoplasms Adult Autopsy Female Hemangiosarcoma Hemangiosarcoma Hemangiosarcoma Humans Immunohistochemistry Loss of Heterozygosity Lymphangioleiomyomatosis Lymphangioleiomyomatosis Lymphangioleiomyomatosis Tuberous Sclerosis Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Protein p53 Tumor Suppressor Protein p53

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