DOI QR코드

DOI QR Code

The First Case of Acute Myeloid Leukemia With Underlying Fanconi Anemia due to FANCF Variants in Korea

  • Eunsang Suh (Department of Laboratory Medicine and Genetics, Samsung Medical Center) ;
  • Sunghwan Shin (Department of Laboratory Medicine and Genetics, Samsung Medical Center) ;
  • Hee Young Ju (Department of Pediatrics, Samsung Medical Center) ;
  • Keon Hee Yoo (Department of Pediatrics, Samsung Medical Center) ;
  • Hyun-Young Kim (Department of Laboratory Medicine and Genetics, Samsung Medical Center) ;
  • Duck Cho (Department of Laboratory Medicine and Genetics, Samsung Medical Center) ;
  • Sun-Hee Kim (Department of Laboratory Medicine and Genetics, Samsung Medical Center) ;
  • Hee-Jin Kim (Department of Laboratory Medicine and Genetics, Samsung Medical Center)
  • Received : 2022.07.01
  • Accepted : 2022.09.11
  • Published : 2023.03.01

Abstract

Keywords

References

  1. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016;127:2391-405. https://doi.org/10.1182/blood-2016-03-643544
  2. Mehta PA and Ebens C. Fanconi anemia. In: Adam MP, Ardinger HH, et al., eds. GeneReviews [Internet]. Seattle: University of Washington, 2002 (Updated on Jun 2021).
  3. de Winter JP, Rooimans MA, van Der Weel L, van Berkel CG, Alon N, Bosnoyan-Collins L, et al. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet 2000;24:15-6. https://doi.org/10.1038/71626
  4. Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, et al. Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. Birth Defects Res A Clin Mol Teratol 2015;103:1003-10. https://doi.org/10.1002/bdra.23388
  5. Tryon R, Zierhut H, MacMillan ML, Wagner JE. Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations. Am J Med Genet A 2017;173:260-3. https://doi.org/10.1002/ajmg.a.37998
  6. Zareifar S, Dastsooz H, Shahriari M, Faghihi MA, Shekarkhar G, Bordbar M, et al. A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report. BMC Med Genet 2019; 20:122. https://doi.org/10.1186/s12881-019-0855-2
  7. Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, et al. Exploring the role of mutations in Fanconi anemia genes in hereditary cancer patients. Cancers (Basel) 2020;12:829. https://doi.org/10.3390/cancers12040829
  8. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24. https://doi.org/10.1038/gim.2015.30
  9. Giardino S, de Latour RP, Aljurf M, Eikema DJ, Bosman P, Bertrand Y, et al. Outcome of patients with Fanconi anemia developing myelodysplasia and acute leukemia who received allogeneic hematopoietic stem cell transplantation: a retrospective analysis on behalf of EBMT group. Am J Hematol 2020;95:809-16 https://doi.org/10.1002/ajh.25810