Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

doi:10.1097/PAS.0000000000000573

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

The American journal of surgical pathology - 1 May 2016

Harrison Wesley J, Andrici Juliana, Maclean Fiona, Madadi-Ghahan Raha, Farzin Mahtab, Sioson Loretta, Toon Christopher W, Clarkson Adele, Watson Nicole, Pickett Justine, Field Michael, Crook Ashley, Tucker Katherine, Goodwin Annabel, Anderson Lyndal, Srinivasan Bhuvana, Grossmann Petr, Martinek Petr, Ondič Ondrej, Hes Ondřej, Trpkov Kiril, Clifton-Bligh Roderick J, Dwight Trisha, Gill Anthony J

Abstract excerpt

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive renal carcinoma. Identification of HLRCC patients presenting first with uterine leiomyomas may allow early intervention for renal carcinoma. We reviewed the morphology and immunohistochemical (IHC) findings in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fumarate Hydratase

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Immunohistochemistry

Share to Leiomyomatosis

Share to Neoplastic Syndromes, Hereditary

Share to Skin Neoplasms

Share to Syndrome

Share to Tissue Array Analysis

Share to Uterine Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 26574848
DOI: 10.1097/PAS.0000000000000573
PMCID: PMC4830748

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.PMID 26574848Read ↗

Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approachSemantic proximity Read ↗

Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patientsSemantic proximity Read ↗

Morphologic and Molecular Characteristics of Uterine Leiomyomas in Hereditary Leiomyomatosis and Renal Cancer (HLRCC) SyndromeSemantic proximity Read ↗

Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases.Semantic proximity Read ↗

A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH ExpressionSemantic proximity Read ↗

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.Semantic proximity Read ↗

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variantsSemantic proximity Read ↗

Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.Semantic proximity Read ↗

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.Semantic proximity Read ↗

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variantsSemantic proximity Read ↗

Hereditary leiomyomatosis and renal cell carcinomaSemantic proximity Read ↗

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.