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<p>Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an autosomal dominant disorder caused by germline loss-of-function mutations in the <i>fumarate hydratase</i> (<i>FH</i>) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of highly aggressive renal cell carcinoma (RCC), often associated with poor prognosis. We report the case of a 31-year-old Japanese woman diagnosed with unresectable RCC with nodal and adrenal metastases. Histopathological analysis of a biopsy specimen suggested papillary RCC; however, cancer genome profiling revealed a presumed germline pathogenic variant in <i>FH</i>. Subsequent germline testing confirmed the <i>FH</i> mutation, establishing the diagnosis of HLRCC-associated RCC. Cascade genetic testing identified several asymptomatic relatives carrying the same germline <i>FH</i> variant. Immunohistochemistry (IHC) revealed unexpected positivity for FH and S-(2-succinyl) cysteine in tumor cells. Although FH loss is a hallmark of HLRCC-associated renal cell carcinoma, rare cases, such as this one, may exhibit retained FH expression on IHC. The patient was treated with a combination of lenvatinib and pembrolizumab, achieving a sustained partial response for 18&#xa0;months following treatment initiation.</p>

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Pathological diagnosis and therapeutic management of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma

  • 期刊论文

  • 发表日期：

    2025年10月5日

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  • Kojiro Tashiro,
  • Yoji Nagashima,
  • Mikiko Kaneko,
  • Kana Harada,
  • Chisen Takeuchi,
  • Shun Sato,
  • Haruka Matsuzawa,
  • Hisashi Hasumi,
  • Fumihiko Urabe,
  • Shunsuke Tsuzuki,
  • Masaki Hashimoto,
  • Kentaro Yoshihara,
  • Mariko Honda,
  • Hiroki Yamada,
  • Hiroshi Kawame,
  • Takahiro Kimura

摘要

Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an autosomal dominant disorder caused by germline loss-of-function mutations in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of highly aggressive renal cell carcinoma (RCC), often associated with poor prognosis. We report the case of a 31-year-old Japanese woman diagnosed with unresectable RCC with nodal and adrenal metastases. Histopathological analysis of a biopsy specimen suggested papillary RCC; however, cancer genome profiling revealed a presumed germline pathogenic variant in FH. Subsequent germline testing confirmed the FH mutation, establishing the diagnosis of HLRCC-associated RCC. Cascade genetic testing identified several asymptomatic relatives carrying the same germline FH variant. Immunohistochemistry (IHC) revealed unexpected positivity for FH and S-(2-succinyl) cysteine in tumor cells. Although FH loss is a hallmark of HLRCC-associated renal cell carcinoma, rare cases, such as this one, may exhibit retained FH expression on IHC. The patient was treated with a combination of lenvatinib and pembrolizumab, achieving a sustained partial response for 18 months following treatment initiation.