Background: : Hereditary leiomyomatosis (HL) is an autosomal dominant condition due to a variety of fumarate hydratase (FH) mutations in which individuals tend to develop cutaneous leiomyomas, multiple uterine leiomyomas and are at risk for developing aggressive papillary renal cell carcinoma.
Case Presentation: : A 26-year-old man with a past history of acute lymphoblastic leukemia (T-ALL) presented with numerous painful light brown papules and nodules spread all over his body except for the head, appearing since infancy. Similar lesions were present in his mother's family. A cutaneous biopsy revealed a cutaneous leiomyoma. His mother died from metastatic uterine neoplasia and his sister suffered from leiomyoma of the uterus. No renal cancer was reported in his family. A heterozygous pathogenic variant was detected in the FH gene.
Conclusion: : To our knowledge, this is the first case possibly linking HL and T-ALL through FH deficiency.
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| http://dx.doi.org/10.1080/17843286.2021.1980669 | DOI Listing |
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Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.
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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.
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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.
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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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