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2022, Número 2

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Acta Pediatr Mex 2022; 43 (2)


Dismorfología como Herramienta Clínica para el Diagnóstico Temprano de Anemia de Fanconi

Fiesco-Roa MO, Gómez-Moreno PG, Espinosa-Curiel RM, Rodríguez A, Frías S

Idioma: Español
Referencias bibliográficas: 48
Paginas: 129-140
Archivo PDF: 356.21 Kb.


FRAGMENTO

ANTECEDENTES

El término “Dismorfología” fue utilizado por primera vez en 1966 por David Smith. La Dismorfología es la rama de la Genética clínica que evalúa y analiza las anomalías morfológicas en el ser humano. Una alteración dismorfológica o del desarrollo puede ser clasificada como malformación, disrupción, displasia o deformación.
La anemia de Fanconi es un síndrome de inestabilidad cromosómica con alta frecuencia de anomalías dismorfológicas. La prevalencia global de la anemia de Fanconi es de 1-9 casos por cada millón de personas. Las alteraciones que forman parte del fenotipo de la anemia de Fanconi pueden agruparse en 3 rubros: hematológicas, oncológicas y del desarrollo físico. Las manifestaciones hematológicas dan nombre a la enfermedad y aparecen en el 96% de los pacientes. El porcentaje de pacientes que evoluciona a cáncer varía del 12 al 17%, según la población estudiada.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Smith DW. Dysmorphology (teratology). The Journal of Pediatrics. 1966 Dec;69(6).

  2. Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, et al. Elements of morphology: General terms for congenital anomalies. American Journal of Medical Genetics Part A. 2013 Nov;161(11).

  3. del Castillo Ruiz V, Uranga Hernández RD, Zafra de la Rosa G. Genética Clínica. 2nd ed. Ciudad de México: Manual Moderno; 2019.

  4. Richtsmeier JT. Dysmorphology. In: Brenner’s Encyclopedia of Genetics. Elsevier; 2013.

  5. García-de-Teresa B, Rodríguez A, Frias S. Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences. Genes (Basel). 2020 Dec 21;11(12).

  6. ORPHANET. Fanconi Anemia Orphanet. https://www.orpha. net/consor/cgi-bin/OC_Exp.php?Lng=ES&Expert=84. 2021.

  7. Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Reviews [Internet]. 2010;24(3):101–22. Available from: http://dx.doi.org/10.1016/j.blre.2010.03.002

  8. Risitano AM, Marotta S, Calzone R, Grimaldi F, Zatterale A. Twenty years of the Italian Fanconi Anemia Registry: Where we stand and what remains to be learned. Haematologica. 2016;101(3):319–27.

  9. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the national cancer institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103(1):30–9.

  10. Alter BP. Cancer in Fanconi anemia, 1927-2001. Cancer. 2003 Jan 15;97(2):425–40.

  11. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood. 2003 Feb 1;101(3):822–6.

  12. Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP. Genotype-phenotype associations in Fanconi anemia: A literature review. Blood Reviews. 2019;37.

  13. Knies K, Inano S, Ramírez MJ, Ishiai M, Surrallés J, Takata M, et al. Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. Journal of Clinical Investigation. 2017 Jul 10;127(8).

  14. Rodríguez A, D’Andrea A. Fanconi anemia pathway. Current Biology [Internet]. 2017 Sep;27(18):R986–8. Available from: https://linkinghub.elsevier.com/retrieve/pii/ S0960982217309478

  15. Alter BP, Giri N. Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS. American Journal of Medical Genetics, Part A. 2016 Jun 1;170(6):1520–4.

  16. Ruggiero JL, Dodds M, Freese R, Polcari IC, Maguiness S, Hook KP, Boull C. Cutaneous findings in Fanconi anemia. J Am Acad Dermatol. 2021 Nov;85(5):1253-1258. doi: 10.1016/j.jaad.2020.08.047.

  17. Stivaros SM, Alston R, Wright NB, Chandler K, Bonney D, Wynn RF, et al. Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging. The British Journal of Radiology. 2015 Dec;88(1056).

  18. D’Souza F, Usha MK, Rao S. Fanconi’s Anemia in Monozygotic Twins [Internet]. Vol. 74, Indian Journal of Pediatrics. 2007. Available from: www.rockefeller.edu/labheads/ auerbach/deb.php

  19. Stevens H, Chyn Chua C, Wallis M, Hew S, Grigg A. Fanconi anemia in 55‐year‐old identical twins first presenting as fatal post‐chemotherapy pancytopenia. American Journal of Hematology. 2016 Dec 8;91(12).

  20. Temtamy SA, Miller JD. Extending the scope of the VATER association: Definition of the VATER syndrome. The Journal of Pediatrics. 1974 Sep;85(3).

  21. Nora AH, Nora JJ. A Syndrome of Multiple Congenital Anomalies Associated with Teratogenic Exposure. Archives of Environmental Health: An International Journal. 1975 Jan;30(1).

  22. Genuardi M, Chiurazzi P, Capelli A, Neri G. X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. Birth Defects Orig Artic Ser. 1993;29(1).

  23. Quan L, Smith DW. The VATER association. The Journal of Pediatrics. 1973 Jan;82(1).

  24. Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, et al. Clinical geneticists’ views of VACTERL/ VATER association. American Journal of Medical Genetics Part A. 2012 Dec;158A(12).

  25. Solomon BD. The etiology of VACTERL association: Current knowledge and hypotheses. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2018 Dec;178(4).

  26. Sadler TW. Is VACTERL a laterality defect? American Journal of Medical Genetics Part A. 2015 Nov;167(11).

  27. Porteous MEM, Cross I, Burn J. VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies? American Journal of Medical Genetics. 1992 Aug 1;43(6).

  28. Wang H, Hunter AGW, Clifford B, McLaughlin M, Thompson D. VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. American Journal of Medical Genetics. 1993 Aug 1;47(1).

  29. Alter BP, Rosenberg PS. VACTERL-H association and fanconi anemia. Molecular Syndromology. 2013 Feb;4(1–2):87–93.

  30. Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, le Merrer M, Thauvin-Robinet C, et al. Should chromosome breakage studies be performed in patients with VACTERL association? American Journal of Medical Genetics. 2005 Aug 15;137 A(1):55–8.

  31. Esmer C, Sánchez S, Ramos S, Molina B, Frias S, Carnevale A. DEB test for Fanconi anemia detection in patients with atypical phenotypes. American Journal of Medical Genetics Part A. 2004 Jan 1;124A(1).

  32. Fiesco Roa M, Monsivais Orozco A, Rodriguez A, Frías S, Garcia-de Teresa B. Síndromes de falla medular hereditarios: etiología, fisiopatología, diagnóstico y tratamiento. Acta Pediátrica de México. 2021 Jul;42(4):192–207.

  33. Sevilla-Montoya R, Aguinaga M, Martínez A, Razo G, Molina B, Frías S, et al. Heterogeneous Diagnoses Underlying Radial Ray Anomalies. The Indian Journal of Pediatrics. 2017 Mar 17;84(3).

  34. Garza-Mayén G, Fiesco-Roa M, Frías S, García-De Teresa B. Microcephaly: Diagnostic considerations. Acta Pediatrica de Mexico. 2020;41(5).

  35. Vellanki PJ, DeBoy EA, Bawadkji MM, Schuchter L, Rooper L, Mehra R, et al. Ovarian Failure Preceding Head and Neck Squamous Cell Carcinoma Identifies an Adult-Onset Cancer-Prone Syndrome Caused by FANCM Mutations. JCO Precision Oncology. 2021 Aug;(5).

  36. Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, et al. Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. The American Journal of Human Genetics. 2018 Aug;103(2).

  37. Cavenagh JD, Richardson DS, Gibson RA, Mathew CG, Newland AC. Fanconi’s anaemia presenting as acute myeloid leukaemia in adulthood. British Journal of Haematology. 1996 Jul 2;94(1).

  38. Alter BP. Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes. Hematology. 2007 Jan 1;2007(1).

  39. Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol. 2010 Jul;150(2):179-88. doi: 10.1111/j.1365-2141.2010.08212.x.

  40. Auerbach AD. Fanconi anemia and its diagnosis. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 2009 Jul;668(1–2).

  41. Auerbach AD. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol. 1993 Jun;21(6).

  42. Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood. 1989 Feb;73(2).

  43. Frías S, Carnevale A, del Castillo V. [Use of a test exposing lymphocytes to mitomycin C in the diagnosis of Fanconi’s anemia]. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 36(3).

  44. Sasaki MS, Tonomura A. A high susceptibility of Fanconi’s anemia to chromosome breakage by DNA cross-linking agents. Cancer Res. 1973 Aug;33(8).

  45. Schroeder, T.M., Anschütz, F. & Knopp, A. Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Hum Genet 1, 194–196 (1964). doi.org/10.1007/ BF00389636

  46. Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, et al. Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. Blood. 2013 May 30;121(22).

  47. Gille JJP, Floor K, Kerkhoven L, Ameziane N, Joenje H, de Winter JP. Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. Anemia. 2012;2012.

  48. Pilonetto D v., Pereira NF, Bonfim CMS, Ribeiro LL, Bitencourt MA, Kerkhoven L, et al. A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. Molecular Genetics & Genomic Medicine. 2017 Jul;5(4).




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