Ann Lab Med.  2023 Mar;43(2):204-207. 10.3343/alm.2023.43.2.204.

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

• Suh E
• Shin S
• Ju HY
• Yoo KH
• Kim HY
• Cho D
• Kim SH
• Kim HJ

• KMID: 2551699
• DOI: http://doi.org/10.3343/alm.2023.43.2.204

Figure

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  Fig. 1 BM aspirate smear (A, Wright–Giemsa stain, ×400) and biopsy section (B, H&E stain, ×100) at the initial diagnosis of AML. Follow-up BM aspirate smear (C, Wright–Giemsa, ×100) and biopsy section after chemotherapy (D, H&E stain, ×100) showing decreased cellularity. Abbreviations: BM, bone marrow; H&E, hematoxylin and eosin; AML, acute myeloid leukemia.

• 

  Fig. 2 NGS (A) and Sanger (B) sequencing chromatograms showing heterozygous FANCF variants c.167del (red arrow) and c.2T>C (blue arrow). (C) Chromosomal breakage analysis with mitomycin C showing increased breaks per cell and triradial formations. Abbreviations: NGS, next-generation sequencing; tri, triradial; ctb, chromatid break; com, complex.

Reference

1. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. 2016; The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 127:2391–405. DOI: 10.1182/blood-2016-03-643544. PMID: 27069254.

2. Mehta PA, Ebens C. Adam MP, Ardinger HH, editors. 2002. Fanconi anemia. GeneReviews [Internet]. University of Washington;Seattle: (Updated on Jun 2021).

3. de Winter JP, Rooimans MA, van Der Weel L, van Berkel CG, Alon N, Bosnoyan-Collins L, et al. 2000; The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet. 24:15–6. DOI: 10.1038/71626. PMID: 10615118.

4. Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, et al. 2015; Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. Birth Defects Res A Clin Mol Teratol. 103:1003–10. DOI: 10.1002/bdra.23388. PMID: 26033879.

5. Tryon R, Zierhut H, MacMillan ML, Wagner JE. 2017; Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations. Am J Med Genet A. 173:260–3. DOI: 10.1002/ajmg.a.37998. PMID: 27714961.

6. Zareifar S, Dastsooz H, Shahriari M, Faghihi MA, Shekarkhar G, Bordbar M, et al. 2019; A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report. BMC Med Genet. 20:122. DOI: 10.1186/s12881-019-0855-2. PMID: 31288759. PMCID: PMC6617641.

7. Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, et al. 2020; Exploring the role of mutations in Fanconi anemia genes in hereditary cancer patients. Cancers (Basel). 12:829. DOI: 10.3390/cancers12040829. PMID: 32235514. PMCID: PMC7226125.

8. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 2015; 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. 17:405–24. DOI: 10.1038/gim.2015.30. PMID: 25741868. PMCID: PMC4544753.

9. Giardino S, de Latour RP, Aljurf M, Eikema DJ, Bosman P, Bertrand Y, et al. 2020; 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. 95:809–16. DOI: 10.1002/ajh.25810. PMID: 32267023.