Display options
Cite
Encarnación JA, Cerezuela P, Español I, et al. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021;65(1):104399doi: 10.1016/j.ejmg.2021.104399.
Encarnación, J. A., Cerezuela, P., Español, I., García, M. R., Manso, C., De la Fuente, I., Garrigós, N., Viney, A., Minguillon, J., & Surrallés, J. (2021). Fanconi-like anemia related to a FANCM mutation. European journal of medical genetics, 65(1), 104399. https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación, J A, et al. "Fanconi-like anemia related to a FANCM mutation." European journal of medical genetics vol. 65,1 (2021): 104399. doi: https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021 Nov 15;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15. PMID: 34793962.
Copy Download .nbib Format: NLM
Share it on

Eur J Med Genet. 2021 Nov 15;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15.

Fanconi-like anemia related to a FANCM mutation.

European journal of medical genetics

J A Encarnación, P Cerezuela, I Español, M R García, C Manso, I De la Fuente, N Garrigós, A Viney, J Minguillon, J Surrallés

Affiliations

  1. Servicio de Oncología Radioterápica Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain. Electronic address: [email protected].
  2. Servicio de Oncología Médica Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
  3. Servicio de Hematología y Hemoterapia Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
  4. Servicio de Medicina Intensiva, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
  5. Servicio de Oncología Radioterápica Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
  6. Centro Inmunológico de Alicante, Spain; Servicio de Biología Molecular de Cialab Ribera Salud, Spain.
  7. Servicio de Farmacia, Hospital General Universitario Santa Lucía, Cartagena, Spain.
  8. Genome Instability and DNA Repair Syndromes Group, Sant Pau Biomedical Research Institute (IIB Sant Pau), Join Unit UAB-IR Sant Pau on Genomic Medicine, 08041, Barcelona, Spain; Genetics Department, Hospital de la Santa Creu I Sant Pau, 08041, Barcelona, Spain; Genetics and Microbiology Department, Universitat Autònoma de Barcelona, 08193, Bellaterra, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Sant Pau Biomedical Research Institute (IIB Sant Pau), 08041, Barcelona, Spain.

PMID: 34793962 DOI: 10.1016/j.ejmg.2021.104399

Abstract

Fanconi anemia is primarily inherited as an autosomal recessive genetic disorder with common delays in diagnosis and challenging treatments. Fanconi anemia patients have a high risk of developing solid tumors, particularly in the head and neck or anogenital regions. The diagnosis of Fanconi anemia is primarily based on the chromosomal breakage but FA gene sequencing is recommended in all patients with a positive chromosome fragility test. Here, we present a 32-year-old man with advanced tonsil squamous cell carcinoma and fatal toxicity after the first cycle of chemotherapy. No anemia was present. A recent variant mutation if the FANCM gene was detected (c1511_1515delGAGTA (pArg504AsnfsTer29)). Homozygous or double heterozygous pathogenic variants have been reported in FANCM and linked to azoospermia and primary ovarian failure without anemia. Alterations in this gene have also been associated with a genetic predisposition for solid tumors (breast and ovarian cancer) and hematological malignancies (B-cell acute lymphoblastic leukemia). Due to the hypersensitivity of these patients to DNA-damaging agents such as chemotherapy and radiotherapy, surgery is the best treatment option for malignant solid tumors. Dose reductions or alternative regimens of chemotherapy and/or radiotherapy are recommended in FA patients who develop a malignant tumor.

Copyright © 2021. Published by Elsevier Masson SAS.

Keywords: FANCM gene; Fanconi anemia; Targeted therapy; Tonsil cancer; c1511_1515delGAGTA

Publication Types