Fanconi anemia is known to have a predisposition to cancer, mostly associated with acute myeloid leukemia. We report an eight year old girl with treatment and naive FA who developed acute lymphoblastic leukemia. She was initiated on chemotherapy but she failed to respond to treatment and died during induction phase of chemotherapy. While this association may be coincidental but possibility of transition of Fanconi anemia to ALL should be considered in view of high predisposition to cancer in this disorder.
Download full-text PDF |
Source |
---|
Haematologica
January 2025
Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva; Sackler Faculty of Medicine, Aviv University, Aviv; ; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Petach Tikva.
Discov Med
December 2024
Department of Biological Hematology, Tours University Hospital, 37000 Tours, France.
Aldehyde dehydrogenases (ALDHs) constitute a group of enzymes that catalyze the oxidation of aldehydes to carboxylic acids. The human ALDH superfamily, including 19 different isoenzymes (ALDH1A1, ALDH1A2, ALDH1A3, AHDH1B1, ALDH1L1, ALDH1L2, ALDH2, ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDHA16A1, ALDH18A1), displays different key physiological and toxicological functions, with specific tissue expression and substrate specificity. Several studies have established that ALDH are interesting markers for the identification and quantification of human hematopoietic stem cells and cancer stem cells, notably leukemic stem cells.
View Article and Find Full Text PDFOncogene
December 2024
Department of Cancer and Genomic Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
Breast cancer stem cells (BCSCs) are a rare cell population that is responsible for tumour initiation, metastasis and chemoresistance. Despite this, the mechanism by which BCSCs withstand genotoxic stress is largely unknown. Here, we uncover a pivotal role for the arginine methyltransferase PRMT5 in mediating BCSC chemoresistance by modulating DNA repair efficiency.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Engelhardt Institute of Molecular Biology, the Russian Academy of Sciences, 119991 Moscow, Russia.
Assessments of breast cancer (BC) risk in carriers of pathogenic variants identified by gene panel testing in different populations are highly in demand worldwide. We performed target sequencing of 78 genes involved in DNA repair in 860 females with BC and 520 age- and family history-matched controls from Central Russia. Among BC patients, 562/860 (65.
View Article and Find Full Text PDFJ Genet Eng Biotechnol
December 2024
Medical Molecular Genetics Dpt., Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. Electronic address:
Background: Fanconi anemia is a genetically heterogeneous recessive disorder distinguished by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and disturbed DNA repair. To date, Fanconi anemia complementation group (FANC) includes 23 FANC genes identified of which, FANCA gene is the most commonly mutated. The mutation spectrum of the FANCA gene is highly heterogeneous with large intragenic deletions due to Alu elements-mediated recombination.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!