Cutaneous Leiomyoma: A Clinical Study of 152 Patients

Marcoval, Joaquim; Llobera-Ris, Clàudia; Moreno-Vílchez, Carlos; Penín, R.M.

doi:10.1159/000518542

Cited by 3 publications

(6 citation statements)

References 16 publications

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“…HLRCC patients with stage III cancer show the worst progression-free survival and overall survival rates [ 8 ]. It has been reported that HLRCC patients were confirmed in 8 of 11 patients with multiple piloleiomyomas (73%) [ 9 ], which was highly frequent. Patients with leiomyomas without HLRCC were older than patients with HLRCC (56 vs. 34 years, p = 0.009) [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer

Nagashima,

Morimura,

Hamada

et al. 2024

Diagnostics

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The diagnosis of hereditary skin tumors is difficult for “old” diagnostic tools such as immunohistochemistry. Whole-exome sequencing analysis as a “new” diagnostic tool enables us to make a final diagnosis in spite of unknown hereditary diseases in the past. Hereditary leiomyomatosis and renal cell cancer are autosomal dominant hereditary cancer syndromes characterized by uterine myomas, cutaneous leiomyomas, and aggressive renal cell cancer. The syndrome is associated with pathogenic germline variants in the fumarate hydratase gene. Herein, we demonstrate a pathogenic germline variant of the fumarate hydratase gene in a 60-year-old woman with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer. Whole-exome sequencing analysis using genomic DNA extracted from peripheral blood leukocytes revealed one germline variant in the FH gene on chromosome 1 (c.290G>A, p.Gly97Asp). She received total hysterectomy due to uterine myoma, which strongly supported the diagnosis. No tumor was detected in her kidney by computed tomography and ultrasound examination. Genetic examination for the mutation of the fumarate hydratase gene is important in order to reach the correct diagnosis and to detect renal cancer at its early stage.

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Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer

Nagashima,

Morimura,

Hamada

et al. 2024

Diagnostics

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“…The prevalence of HLRCC is estimated at 1 in 200,000 [6], and penetrance is unknown [4]. HLRCC presents dermatologically with non-malignant smooth muscle tumours surrounding hair follicles, called multiple pilar leiomyomas or piloleiomyomas [7]. Piloleiomyomas appear as reddish-brown or flesh-coloured, tender or non-tender firm papules or nodules which may be sensitive to pressure or cold [7].…”

Section: Hereditary Leiomyomatosis and Renal Cell Cancermentioning

confidence: 99%

“…HLRCC presents dermatologically with non-malignant smooth muscle tumours surrounding hair follicles, called multiple pilar leiomyomas or piloleiomyomas [7]. Piloleiomyomas appear as reddish-brown or flesh-coloured, tender or non-tender firm papules or nodules which may be sensitive to pressure or cold [7]. They predominantly occur on the trunk and limbs, along the lines of Blaschko, or adopting linear, segmental or zosteriform patterns [7].…”

Section: Hereditary Leiomyomatosis and Renal Cell Cancermentioning

confidence: 99%

“…Piloleiomyomas appear as reddish-brown or flesh-coloured, tender or non-tender firm papules or nodules which may be sensitive to pressure or cold [7]. They predominantly occur on the trunk and limbs, along the lines of Blaschko, or adopting linear, segmental or zosteriform patterns [7]. The age-related prevalence of cutaneous leiomyomas in HLRCC is 78% to age 75, occurring at a mean age of 45.9 years [6].…”

Section: Hereditary Leiomyomatosis and Renal Cell Cancermentioning

confidence: 99%

“…The age-related prevalence of cutaneous leiomyomas in HLRCC is 78% to age 75, occurring at a mean age of 45.9 years [6]. Around 73% of patients with multiple piloleiomyomas harbour a detectable pathogenic variant in FH, whilst single, vascular (angioleiomyomas) and genital leiomyomas are not usually associated with HLRCC [7]. Cutaneous leiomyosarcoma has been reported in five individuals with HLRCC to date [8,9].…”

Section: Hereditary Leiomyomatosis and Renal Cell Cancermentioning

confidence: 99%

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Genodermatoses – Opportunities for Early Detection and Cancer Prevention

Carley

Kulkarni

2022

Curr Genet Med Rep

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Purpose of Review This review describes the clinical features of the major adult-onset genodermatosis-associated hereditary cancer predisposition syndromes. Diagnosis of these conditions can be challenging due to a wide range of clinical features, varied presentations within families and the involvement of multiple medical specialities. Recent Findings By emphasising the cutaneous and other non-malignant features, we aim to alert clinicians from all specialities to clues in the clinical history which should prompt consideration of a genodermatosis-associated hereditary cancer predisposition syndrome. In recognition of the move towards remote (telephone or video) appointments since the Covid-19 pandemic, we propose criteria which could be used by Cancer Genetics services to triage patients for in-person consultations in order to examine for signs of genodermatosis. Summary Although individually rare, familiarity with these conditions amongst genetic and non-genetic clinicians is important as early diagnosis provides an opportunity to implement risk-reduction measures prior to a cancer diagnosis.

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