Cargando…

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas

Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor. To evaluate fumarate hydratase in respective sporadic tumours,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Barker, K T, Bevan, S, Wang, R, Lu, Y-J, Flanagan, A M, Bridge, J A, Fisher, C, Finlayson, C J, Shipley, J, Houlston, R S
Formato:	Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2002
Materias:	Genetics and Genomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2376129/ https://www.ncbi.nlm.nih.gov/pubmed/12177782 http://dx.doi.org/10.1038/sj.bjc.6600502

Ejemplares similares

Aberrant uterine leiomyomas with extrauterine manifestation: intravenous leiomyomatosis and benign metastasizing leiomyomas
por: Kim, Yoo-Na, et al.
Publicado: (2018)

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas
por: Kämpjärvi, Kati, et al.
Publicado: (2016)

Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings
por: Zhao, Zichen, et al.
Publicado: (2019)

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants
por: Popp, Bernt, et al.
Publicado: (2020)

Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients
por: Bateman, Nicholas W., et al.
Publicado: (2021)

Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas
por: Li, Ping, et al.
Publicado: (2022)

Diagnosis of Leiomyosarcoma after Uterine Artery Embolization for Multiple Leiomyomas
por: Tsuji, Maako, et al.
Publicado: (2020)

Multiple cutaneous and uterine leiomyomas
por: Asilian, Ali, et al.
Publicado: (2013)

Preoperative Differentiation of Uterine Leiomyomas and Leiomyosarcomas: Current Possibilities and Future Directions
por: Żak, Klaudia, et al.
Publicado: (2022)

Preoperative Blood Inflammatory Markers for the Differentiation of Uterine Leiomyosarcoma from Leiomyoma
por: Suh, Dong Soo, et al.
Publicado: (2021)

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer
por: Kämpjärvi, K, et al.
Publicado: (2012)

A contrast-enhanced CT-based radiomic nomogram for the differential diagnosis of intravenous leiomyomatosis and uterine leiomyoma
por: Shao, Jiang, et al.
Publicado: (2023)

Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
por: Hüller, Cornelia, et al.
Publicado: (2011)

Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas
por: Kuwada, Masaomi, et al.
Publicado: (2014)

Fumarate Hydratase–deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings
por: Harrison, Wesley J., et al.
Publicado: (2016)

Preoperative Diagnosis of Usual Leiomyoma, Atypical Leiomyoma, and Leiomyosarcoma
por: Matsuda, M., et al.
Publicado: (2014)

Multiple Cutaneous and Uterine Leiomyomatosis with Renal Involvement: Report of a Rare Association
por: Gupta, Gunjan, et al.
Publicado: (2018)

Multiple Cutaneous Leiomyomas with Uterus Myomatosus (MCUL) – Two Case Reports and One New Mutation of FH Gene
por: Koch, André, et al.
Publicado: (2019)

Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
por: Gunnala, Vinay, et al.
Publicado: (2018)

Reed's Syndrome - A Rare Case of Multiple Cutaneous and Uterine Leiomyomatosis With Renal Cyst
por: Mohapatra, Liza, et al.
Publicado: (2019)

Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome)
por: Hsu, Tina, et al.
Publicado: (2017)

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
por: Yagi, Yasuto, et al.
Publicado: (2022)

MED12 and HMGA2 mutations: Two independent genetic events in uterine leiomyoma and leiomyosarcoma
por: Bertsch, Elizabeth, et al.
Publicado: (2014)

Two Rare Cases of Uterine Leiomyosarcomas Originating from Submucosal Leiomyomas Proved by Their Immunohistochemistry Profiles
por: Ghorbani, Hossein, et al.
Publicado: (2020)

Diagnostic Performance of MRI to Differentiate Uterine Leiomyosarcoma from Benign Leiomyoma: A Meta-Analysis
por: Virarkar, Mayur, et al.
Publicado: (2020)

Isolated cutaneous metastasis of uterine leiomyosarcoma: case report and review of literature
por: Corcoran, Shane, et al.
Publicado: (2012)

Intracardiac Leiomyomatosis Arising from a Uterine Leiomyoma – A Rare Case Requiring a Multidisciplinary Laparotomy–Thoracotomy Approach
por: Murali, T. V., et al.
Publicado: (2023)

Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval
por: Aissani, Brahim, et al.
Publicado: (2015)

Cutaneous leiomyomatosis in a mother and daughter
por: Lencastre, André, et al.
Publicado: (2013)

Molecular pathological approach of uterine intravenous leiomyomatosis
por: Hayashi, Takuma, et al.
Publicado: (2022)

Neutrophil-to-Lymphocyte Ratio (NLR) for Preoperative Differentiation between Uterine Leiomyosarcoma (LMS) and Uterine Leiomyoma: A Case-Controlled Study
por: Srisutha, Phitsinee, et al.
Publicado: (2023)

Uterine Leiomyosarcoma
por: Byar, Katherine L., et al.
Publicado: (2022)

FDG-PET/CT findings of atypical (bizarre/symplastic) uterine leiomyoma in a patient with abdominal leiomyosarcoma
por: Hubelé, Fabrice, et al.
Publicado: (2015)

Integrative Genomic and Transcriptomic Profiling Reveals a Differential Molecular Signature in Uterine Leiomyoma versus Leiomyosarcoma
por: Machado-Lopez, Alba, et al.
Publicado: (2022)

MR Imaging of a Leiomyosarcoma Arising in Leiomyoma
por: Fujii, Shinya, et al.
Publicado: (2018)

Case report: Atypical, ‘symplastic’ leiomyoma recurring as leiomyosarcoma in the vagina()()
por: Cooney, Elizabeth J., et al.
Publicado: (2015)

Increased Occurrence of Cutaneous Leiomyomas and Dermatofibromas in Patients with Uterine Leiomyomas without Fumarate Hydratase Gene Mutations
por: Campione, Elena, et al.
Publicado: (2023)

Cutaneous skull metastasis from uterine leiomyosarcoma: a case report
por: Barbetakis, Nikolaos, et al.
Publicado: (2009)

Intravenous leiomyomatosis is inclined to a solid entity different from uterine leiomyoma based on RNA‐seq analysis with RT‐qPCR validation
por: Wang, Wenze, et al.
Publicado: (2020)

A Rare Concurrence of Leiomyomatosis Peritonealis Disseminata, Leiomyosarcoma of the Pelvis and Leiomyomatous Nodule of the Liver
por: Tun, Aung Myint, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_6vv160vdjb90jct6uql06tc4k7