scholarly journals Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome

2020 ◽  
Vol 8 (8) ◽  
Author(s):  
Kelsey E. Breen ◽  
Maria I. Carlo ◽  
Yelena Kemel ◽  
Anna Maio ◽  
Ying‐Bei Chen ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Pathogenic Variant ◽  
Cancer Syndrome ◽  
Hereditary Leiomyomatosis

First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy

2016 ◽  
Vol 20 (4) ◽  
pp. 334-336
Author(s):  
Kathryn Woolner ◽  
Ashley O’Toole ◽  
Lauren LaBerge
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Case Series ◽  
Review Of The Literature ◽  
Cancer Syndrome ◽  
Cutaneous Lesions ◽  
Hereditary Leiomyomatosis ◽  
In Pregnancy

Background: Reed’s syndrome, also known as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome, is an autosomal dominant condition in which affected individuals may develop cutaneous leiomyomas, uterine fibroids, and renal cell carcinoma. Objective: This report describes a unique case of HLRCC because it presented in pregnancy with development of cutaneous pilar leiomyomas. Methods: Review of the literature for previous cases of Reed’s syndrome during pregnancy including PubMed and Medline search. Results: Genetic testing of this patient demonstrated a mutation in the fumarate hydratase ( FH) gene. Review of the literature showed only 1 previous case series that described the onset of cutaneous lesions during pregnancy. Conclusion: This case serves as a reminder that there may exist a correlation between pregnancy and the first manifestation of cutaneous lesions in patients with HLRCC, and thus an increased clinical suspicion is warranted during this period.

scholarly journals A Case of Metastatic Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome-Associated Renal Cell Carcinoma Treated with a Sequence of Axitinib and Nivolumab Following Cytoreductive Nephrectomy

2020 ◽  
Vol 7 (2) ◽  
pp. 6-10
Author(s):  
Ichiro Yonese ◽  
Masaya Ito ◽  
Kosuke Takemura ◽  
Takao Kamai ◽  
Fumitaka Koga
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Cancer Syndrome ◽  
Durable Response ◽  
Pelvic Cancer ◽  
Hereditary Leiomyomatosis

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) associated renal cell carcinoma (RCC) is an aggressive form of type 2 papillary RCC caused by deficiency of the fumarate hydratase gene. For patients with metastatic disease, no standard treatment has been established with dismal prognosis. We report a case of metastatic HLRCC-associated RCC in a 65-year-old Japanese male whose clinical features mimicked advanced renal pelvic cancer. A durable response was achieved with a sequence of axitinib and nivolumab after cytoreductive and diagnostic nephrectomy. Their potential therapeutic roles in the management of metastatic HLRCC-associated RCC have been discussed based on its molecular and biological backgrounds.

scholarly journals Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

Cancers ◽  
2020 ◽  
Vol 12 (11) ◽  
pp. 3277
Author(s):  
A. Beatriz Sánchez-Heras ◽  
Adela Castillejo ◽  
Juan D. García-Díaz ◽  
Mercedes Robledo ◽  
Alexandre Teulé ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Renal Cysts ◽  
Clinical Information ◽  
Loss Of Function ◽  
Cancer Syndrome ◽  
Pathogenic Variants ◽  
Hereditary Leiomyomatosis

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations. Analyses were performed using R 3.6.0. software. We included 197 individuals: 74 index cases and 123 relatives. CLMs were diagnosed in 65% of patients, ULMs in 90% of women, RCys in 37% and RCC in 10.9%. Twenty-seven different pathogenic variants were detected, 12 (44%) of them not reported previously. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants (p = 0.0380, p = 0.0015 and p = 0.024, respectively). This is the first report of patients with HLRCC from Spain. The frequency of RCCs was lower than those reported in the previously published series. Individuals with missense pathogenic variants had higher frequencies of CLMs, ULMs and RCys.

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): Genotype and phenotype characteristics in a cohort of 197 patients.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1580-1580
Author(s):  
Ana Beatriz Sanchez-Heras ◽  
Adela Castillejo ◽  
Juan de Dios García-Diaz ◽  
Mercedes Robledo ◽  
Alex Teule ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Fumarate Hydratase ◽  
Stage Iv ◽  
Renal Cysts ◽  
Loss Of Function ◽  
Cancer Syndrome ◽  
Pathogenic Variants

1580 Background: HLRCC is a hereditary condition with autosomal dominant inheritance due to germline mutations in the fumarate-hydratase gene ( FH). It is characterized by skin leiomyomas (SLM) in 48-84% of individuals, uterine leiomyomas (ULM) in 30-72%, renal cysts (RCy) and renal cell cancer (RCC) in 15-34%. We aimed to describe the genetics, the clinical features and the potential genotype-phenotype associations in the largest cohort of FH mutation carriers from Spain. Methods: We performed a multicenter, observational, retrospective study of individuals with genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records. We analyzed genetic variants and looked for genotype-phenotype associations. Statistical analyses were performed by IBM-SPSS Statistics-v.22. Results: We included 197 individuals (113 women, 84 men), 74 index cases and 123 relatives. Twenty-seven different variants were detected, 26 pathogenic (12 missense, 5 frameshift, 4 large-deletions, 3 splice-site and 2 nonsense) and 1 variant of unknown significance (missense). Of 182 patients with full skin examination, 64.8% presented SLM (median age 36 years; range 8-85). ULM were diagnosed in 90.3% of 103 women with gynecologic exam (median age 30 years; range 17- 55). Hysterectomy was performed in 62.9% (median age 34 years; range 21-54). Of 153 patients with radiological records, 37.3 % presented RCy. Nineteen patients (10.9%) presented RCC, 11 males and 8 females (median age 37 years; range 10-67). The histological diagnoses were: 14 papillary, of which 10 were type 2; 3 clear cell carcinoma and 2 unclassified carcinoma. Six tumors had stage I, 2 stage II, 3 stage III, 4 stage IV, and 4 not available. The median overall survival among patients at stages 3-4 was 2.9 years [1.3-4.5]. Patients with missense pathogenic variants showed higher risk of developing SLM (p = 0.043) and ULM (p = 0.002) than those with loss of function variants. Conclusions: In our cohort, the frequency of RCC (10.9%) is lower than that published in cohorts of similar sample size. The most frequent histology was the papillary type-2; however, other histological patterns do not exclude HLRCC. Individuals with missense pathogenic variants show higher incidence of SLM and ULM.

Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review

2017 ◽  
Vol 77 (1) ◽  
pp. 149-158 ◽  
Author(s):  
Viral M. Patel ◽  
Marc Z. Handler ◽  
Robert A. Schwartz ◽  
W. Clark Lambert
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Cancer Syndrome ◽  
Hereditary Leiomyomatosis

scholarly journals Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients

2021 ◽  
Vol 41 (2) ◽  
pp. 207-213
Author(s):  
Ja Young Seo ◽  
Jeong-Yeal Ahn ◽  
Bhumsuk Keam ◽  
Miso Kim ◽  
Shinkyo Yoon ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Cancer Syndrome ◽  
Phenotypic Characteristics ◽  
Korean Patients ◽  
Hereditary Leiomyomatosis
Sign in / Sign up

Export Citation Format

Share Document