학술논문
Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature.
Document Type
Article
Author
Source
Subject
*LITERATURE reviews
*PREMATURE menopause
*MYELODYSPLASTIC syndromes
*FEBRILE neutropenia
*TUMORS
*FANCONI'S anemia
*PERCUTANEOUS endoscopic gastrostomy
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Language
ISSN
0007-1048
Abstract
Most cases reported chemotherapy and radiotherapy toxicities including myelosuppression, and mucositis. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. Biallelic deleterious I FANCM i variants are an emerging phenotype including malignancy predisposition, toxicity to chemotherapy, gonadal dysfunction and possibly chromosomal fragility. Enquiries about data access should be made to the corresponding author ETHICS STATEMENT Ethics approval is not required as per local HREC policy. [Extracted from the article]