Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & amp; atypical fibroids

Conclusion(s) Consideration of HLRCC on differential diagnosis when patients present with cutaneous nodules and atypical or early onset uterine leiomyoma provides opportunity for early surveillance, family member testing, and more thoughtful surgical planning. Precis 27-year-old woman with multiple cutaneous lesions is found to have uterine leiomyomas and undergoes robotic myomectomy. Genetic testing of uterine leiomyomas reveals mutation in fumarate hydratase, etiologic in hereditary leiomyomatosis and renal cell cancer (HLRCC).
Source: Case Reports in Womens Health - Category: OBGYN Source Type: research

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AbstractHereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC), which is usually adult-onset. HLRCC-related RCC tends to be aggressive and can metastasize even when the primary tumor is small. Data on children and adolescents are scarce. Herein, we report two patients from unrelated Dutch families, with HLRCC-related RCC at the ages of 15 and 18  years, and a third patient with a...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
ConclusionThis study indicated that the novel mutation may be responsible for the occurrence of multiple uterine leiomyomas. However, the risk of renal disease should not be ignored and regular screening was recommended.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Publication date: Available online 2 November 2019Source: Seminars in Cancer BiologyAuthor(s): Aikseng OoiAbstractHereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant hereditary cancer syndrome with incomplete penetrance. It is caused by a germline amorphic allele of the FH gene, which encodes the TCA cycle enzyme, fumarate hydratase (FH). HLRCC patients are genetically predisposed to develop skin leiomyomas, uterine fibroids, and the aggressive kidney cancer of type 2 papillary morphology. Loss-of-heterozygocity at the FH locus that cause a complete loss of FH enzymatic function is always detec...
Source: Seminars in Cancer Biology - Category: Cancer & Oncology Source Type: research
Abstract 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 cancer. There are 200-300 families with hereditary leiomyomatosis and renal cell cancer 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 are highly penetrant feature in women...
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research
Mutation in the fumarate hydratase (FH) gene causes hereditary leiomyomatosis and renal cell cancer (HLRCC). Impaired FH activity leads to accumulation of cellular fumarate resulting in widespread post-translation modifications, such as succinated cysteinyl residues. A comprehesive multi-omics analysis was conducted to identify proteogenomic determinants underlying risk of developing leiomyomas in HLRCC patients.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Poster session Source Type: research
Hereditary leiomyomatosis and renal cell cancer (HLRCC, OMIM 150800) is an autosomal dominant syndrome characterized by cutaneous leiomyiomas (CLM), benign tumors arising from the erector pili muscle, uterine leiomyomas in female patients and renal cell cancer (RCC) specially the aggressive type 2 papillary form. It is caused by mutations in the fumarate hydratase gene (FH) which codifies the enzyme fumarate hydratase, involved in the Krebs cycle catalyzing the conversion of fumarate to malate. FH loss secondary to germline mutations leads to an aberrant accumulation of fumarate which acts as an oncogenic metabolite.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
AbstractHereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by autosomal dominant germline mutations in the fumarate hydratase (FH) gene and is characterized by cutaneous leiomyomas, uterine leiomyomas and aggressive renal malignancies. We conducted a retrospective chart review to characterize the patients referred to our Regional Genetics Program for assessment of HLRCC from 2004 to mid-2016. Forty-eight of 69 (69.5%) referred individuals were positive for a pathogenic or likely pathogenic variant inFH; they had an average age of 39.1  years. There were 11 differentFH variants among them. As expected, t...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
AbstractHereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253 –260, 2014). HLRCC is caused by germline mutations in theFH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. InFH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to ...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.
Source: Indian Journal of Dermatology - Category: Dermatology Authors: Source Type: research
We present a case series of 2 sisters in their 20s who presented with isolated uterine leiomyomas and were found to carry a novel mutation for the fumarate hydratase gene. One patient was referred for treatment of infertility and recurrent miscarriages and the other was referred for acute symptomatic anemia due to myomas. Prompt diagnosis of hereditary leiomyomatosis renal cell cancer was made due to a high index of clinical suspicion based on early onset disease and familial clustering as well as characteristic pathologic findings on uterine leiomyoma surgical specimen. Timely diagnosis not only allowed for genetic counse...
Source: International Journal of Gynecological Pathology - Category: Pathology Tags: Pathology of the Corpus: Case Report Source Type: research
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