Fumarase Deficiency Latest Advances

Diagnostic Value and Interobserver Reproducibility of Histopathological Features in Fumarate Hydratase-Deficient Uterine Leiomyomas.

Journal: Diagnostics (Basel, Switzerland)

Published: October 11, 2025

Do urinary bladder smooth muscle neoplasms show morphologic and immunophenotypic features of their uterine fumarate hydratase-deficient counterparts?

Journal: Annals of diagnostic pathology

Published: July 02, 2025

Clinicopathological features and prognosis of 117 cases of fumarate hydratase-deficient uterine leiomyomas

Journal: Zhonghua fu chan ke za zhi

Published: June 29, 2025

A Case of a Fumarate Hydratase Deficient Astrocytoma in Association With a Germline Fumarate Hydratase Mutation With Review of the Literature: Considerations for Patients With Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome.

Journal: The American journal of surgical pathology

Published: May 28, 2025

Clinical Implications of Expanded Carrier Screening (ECS) for Pregnancy-Related Care and Individual Health.

Journal: Fertility and sterility

Published: April 24, 2025

Intense FDG Uptake in Leiomyomatosis Peritonealis Disseminata With Fumarate Hydratase Deficiency.

Journal: Clinical nuclear medicine

Published: January 03, 2024

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Journal: Frontiers in genetics

Published: July 16, 2023

Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations.

Journal: International journal of surgical pathology

Published: June 14, 2023

Fumarase Deficiency and Its Effect on Infertility: A Case Series.

Journal: Journal of reproduction & infertility

Published: May 24, 2023

Fumarate Hydratase and S-(2-Succinyl)-Cysteine Immunohistochemistry Shows Evidence of Fumarate Hydratase Deficiency in 2% of Uterine Leiomyosarcomas: A Cohort Study of 348 Tumors.

Journal: International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists

Published: February 02, 2023

Opening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up.

Journal: American journal of obstetrics & gynecology MFM

Published: November 13, 2022

MR Spectroscopy for Detecting Fumarate Hydratase Deficiency in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.

Journal: Radiology

Published: August 09, 2022