A 27-year-old woman, gravida 0, presented with uterine and cutaneous leiomyomata. Genetic testing confirmed hereditary leiomyomatosis and renal cell cancer syndrome, an autosomal dominant disorder caused by germline mutations in the fumarate hydratase gene. Specific screening guidelines do not exist and are often individual and treatment center dependent.
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Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.
Endocrinol Diabetes Metab Case Rep
October 2024
Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition characterized by multiple cutaneous and uterine leiomyomas and renal cell cancer (RCC). HLRCC is caused by germline pathogenic/likely pathogenic (P/LP) variants in the fumarate hydratase (FH) gene on chromosome 1q42.3, encoding the mitochondrial enzyme responsible for the conversion of fumarate to malate in the Krebs cycle.
View Article and Find Full Text PDFA rare case of FH-deficient renal cell carcinoma with signet ring cells features.
Diagn Pathol
December 2024
Shenzhen Hospital, National Cancer Center, National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, China.
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a clinically aggressive tumor with high rates of progression and mortality. A wide range of morphological variations has been observed in FH-deficient RCC, initially described as type 2 papillary RCC or unclassified RCC. Here, we report a case of FH-deficient RCC with rare signet ring cells features.
View Article and Find Full Text PDFUpdate on cancer screening in children with syndromes of bone lesions, hereditary leiomyoma and renal cell carcinoma syndrome, and other rare syndromes.
Clin Cancer Res
November 2024
National Cancer Institute, Bethesda, MD, United States.
The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for healthcare professionals. The 2023 AACR Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance in these syndromes, aiming to improve early detection, intervention, and reduce morbidity associated with such neoplasms. In this paper, we review several of the rare conditions discussed in this workshop.
View Article and Find Full Text PDFArticle Synopsis
- - Fumarate hydratase (FH) deficiency is linked to hereditary leiomyomatosis and renal cell carcinoma (RCC), and FH-deficient tumors currently have limited treatment options.
- - Researchers used an epigenetic-focused guide RNA library to identify the chromodomain helicase DNA binding protein 6 (CHD6) as a key factor promoting the growth of FH-mutated RCC through its interaction with pro-inflammatory enhancers and NF-κB-related transcription.
- - The study found that a specific degrader (AU-15330) could effectively target CHD6 and inhibit the growth of FH-deficient RCC tumors, revealing potential new therapeutic strategies for these cancers.
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