Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings

Noguchi, Go; Furuya, Mitsuko; Okubo, Yoichiro; Nagashima, Yoji; Kato, Ikuo; Matsumoto, Kana; Tanaka, Reiko; Hisasue, Shin‐ichi; Yao, Masahiro; Kishida, Takeshi

doi:10.1111/iju.13760

Cited by 5 publications

(3 citation statements)

References 10 publications

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“…Similarly, CL are rare in patients with HLRCC in Japan and China. The phenotype of HLRCC may differ between Asians and Caucasians [ 1 , 23 , 24 ]. HLRCC only presented as single CL is usually disregarded and misdiagnosed.…”

Section: Discussionmentioning

confidence: 99%

The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma

Bai,

Li,

Wen

et al. 2024

Aging

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Background: To compare clinicopathologic, molecular features, and treatment outcome between fumarate hydratase-deficient renal cell carcinoma (FH-dRCC) and type 2 papillary renal cell carcinoma (T2 pRCC). Methods: Data of T2 pRCC patients and FH-dRCC patients with additional next-generation sequencing information were retrospectively analyzed. The cancer-specific survival (CSS) and disease-free survival (DFS) were primary endpoint. Results: A combination of FH and 2-succino-cysteine (2-SC) increased the rate of negative predictive value of FH-dRCC. Compared with T2 pRCC cases, FH-dRCC cases displayed a greater prevalence in young patients, a higher frequency of radical nephrectomy. Seven FH-dRCC and two T2 pRCC cases received systemic therapy. The VEGF treatment was prescribed most frequently, with an objective response rate (ORR) of 22.2% and a disease control rate (DCR) of 30%. A combined therapy with VEGF and checkpoint inhibitor reported an ORR of 40% and a DCR of 100%. FH-dRCC cases showed a shortened CSS ( P = 0.042) and DFS ( P < 0.001). The genomic sequencing revealed 9 novel mutations. Conclusions: Coupled with genetic detection, immunohistochemical biomarkers (FH and 2-SC) can distinguish the aggressive FH-dRCC from T2 pRCC. Future research is awaited to illuminate the association between the novel mutations and the clinical phenotypes of FH-dRCC in the disease progression.

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Section: Discussionmentioning

confidence: 99%

The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma

Bai,

Li,

Wen

et al. 2024

Aging

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“…Individuals with HLRCC are predisposed to development of cutaneous leiomyomas, uterine leiomyomas, and papillary RCC. [1][2][3][4] HLRCC is caused by a germline heterozygous mutation of the FH gene on chromosome 1q42.2-43. HLRCC is rare, with less than 200 affected kindreds reported worldwide.…”

Section: Discussionmentioning

confidence: 99%

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree

Choi

Kimonis

Hall

et al. 2020

The American Journal of the Medical Sciences

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“…Symptoms include haematuria, flank pain, lower back pain, palpable mass and symptoms from metastases ( 3 ). Patients can debut with RCC as the only clinical manifestations of the syndrome ( 10 , 45 ). HLRCC-associated RCCs have a poor prognosis, with a 5-year survival of 31%, as reported by Toro et al ( 7 ).…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Hereditary Leiomyomatosis and Renal Cell Cancer

Hansen¹,

Chayed²,

Pallesen³

et al. 2020

Acta Derm Venerol

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Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited tumour predisposition syndrome. Around 75% of individuals with HLRCC develop cutaneous leiomyomas, which are skin tumours that can cause pain and itching. Most women with HLRCC develop uterine leiomyomas that often cause gynecological symptoms and typically require surgery. Around 20% develop renal cell carcinoma. HLRCCassociated renal cell carcinomas are aggressive tumours with a high potential to metastasize. Individuals with features suggestive of HLRCC and at-risk family members should undergo genetic testing. Individuals harbouring a pathogenic mutation should be offered lifelong surveillance so renal neoplasms are detected and treated in time. Hereditary leiomyomatosis and renal cell cancer is a genodermatosis with an autosomal dominant inheritance pattern. It is a tumour predisposition syndrome characterized by cutaneous and uterine leiomyomas, and increased susceptibility to develop renal cell carcinoma. There are 200-300 families with hereditary leiomyomatosis and renal cell carcinoma reported worldwide, but the syndrome is believed to be underdiagnosed. Cutaneous leiomyomas are small smooth muscle tumours that tend to grow over time. Larger lesions, in particular, can cause pain or itching. Uterine leiomyomas have a high penetrance in women with hereditary leiomyomatosis and renal cell cancer. They frequently cause symptoms, and surgical intervention is often necessary. Hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas have a high potential to metastasize. Patients are diag nosed by genetic testing if a pathogenic mutation is demonstrated in the gene encoding fumarate hydratase. Immunohistochemistry may be a useful diagnostic approach in patients without a detectable pathogenic mutation. Diagnosed patients should be monitored for renal tumours in a lifelong surveillance programme.

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Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings

Cited by 5 publications

References 10 publications

The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma

The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree

Hereditary Leiomyomatosis and Renal Cell Cancer

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