Keywords
Clinical manifestations
Rare diseases
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Abstract
Objective: To report the main differences in the clinical manifestations of Fanconi Anemia (FA) between two brothers. Case detail: Patient AMS, 02 years old, history of hospitalization in a semi-intensive neonatology unit due to correction of esophageal atresia, tracheoesophageal fistula and congenital hip dislocation. Complete genome sequencing was requested for the patient and, as a result, a pathogenic variant was found that defined the molecular diagnosis associated with the clinical condition, in homozygosity, in the FANCG gene, which was classified as pathogenic. Patient LRMS, 4 years old, male, with no comorbid history. A bone marrow biopsy was performed which showed hypocellular bone marrow for the age, with reduced maturation of all associated series and cytoarchitectural changes, suggestive of marrow aplasia. Missing NPH clone search. DEB test was carried out with research on 25 cells, showing 5 spontaneous breaks, suggesting AF. Final considerations: The identification and knowledge of the clinical and genetic profile of Brazilian patients diagnosed with SCA makes it possible to investigate different phenotypes and the influence of genotypes on the clinical course of the pathology.
References
ANTONY F, et al. Oropharyngeal carcinoma in Fanconi anemia patient radiation treatment, toxicity, and a year follow-up: case report. Indian J Cancer, 2021; 58(3): 434-436.
BARNUM JL, et al. Endocrinopathies, Bone Health, and Insulin Resistance in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation. Biol Blood Marrow Transplat, 2016; 22(8): 1487-1492.
DENG S, et al. Oral Tongue Cancer in a Patient with Fanconi Anemia: A Case Report and Literature Review. Cancer Manag Res, 2021; 13: 1-10.
DEWIRE MD, et al. Fanconi anemia and biallelic BRCA2 mutation diagnosed in a Young Child with na embryonal CNS tumor. Pediatr Blood Cancer, 2009; 53(6): 1140-2.
DUFOUR C e PIERRI F. Modern management of Fanconi anemia. Hematology Am Soc Hematol Educ Program, 2022; 2022 (1): 649-657.
GLUCKMAN E, et al. Bone marrow transplantation for Fanconi anemia. Blood, 1995; 86(7): 2856-62.
HOFFBRAND AV, et al. Anemia aplástica e insuficiência da medula óssea. Fundamentos da hematologia. 6nd ed. Porto Alegre: Artmed, 2013; 384p.
KASTORA S, et al. Delineation of na unknown significance FANCA genetic variant in a recurrent breast cancer patient. BMJ Case Rep, 2021; 14(3): 1-5.
KAWAMOTO H, et al. Identification of Multiple Bowen's Disease Skin Lesions by Careful Physical Examination in a Patient with Fanconi Anemia. Cureus, 2023; 15(12): 1-5.
LEVITUS M, et al. The Fanconi anemia pathway of genomic maintenance. Cell Oncol., 2006; 28(1-2): 3-29.
LEVRAN O, et al. Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci USA, 1997; 94(24): 13051-6.
MAGDALENA N, et al. Frequency of Fanconi anemia in Brazil nad Efficacy of screening for the FANCA 3788- 3790del mutation. Braz J Med Biol Res., 2005; 38(5): 669-73.
NEVELING K, et al. Genotype-phenotype correlations in Fanconi anemia. Mutat Res, 2009; 668(1-2): 73-91.
OOSTRA AB, et al. Diagnosis of Fanconi anemia: chromosomal breakage analysis. Anemia, 2012; 1-9.
PETRYK A, et al. Bone mineral density in children with fanconi anemia after hematopoietic cell transplantation. Biol Blood Marrow Transplat, 2015; 21(5): 894-9.
PILONETTO DV, et al. A strategy for molecular diagnostics for Fanconi anemia in Brazilian Patients. Mol Genet Genomic Med, 2017; 5(4): 360-372.
PILONETTO DV, et al. Diagnóstico laboratorial da anemia de Fanconi: Análise da via de interação das proteínas AF/BRCA por meio da detecção da proteína FANCD2 e de sua forma monoubiquitinada pelo método de Western Blot. Tese (Doutorado em Ciências da Saúde) - Universidade Federal do Paraná, Curitiba, 2007; 177p.
RICKMAN KE, et al. Deficiency of UBE2T, the E2 Ubiquitin ligase necessary for FANCD2 and FANCI Ubiquitination, causes FA-T subtyoe of Fanconi anemia. Cell Rep, 2015; 12(1): 35-41.
SCHNEIDER M, et al. Fanconi anaemia: genetics, molecular biology, and cancer implications for clinical management in children and adults. Clin Genet, 2015; 88(1): 13-24.
TIPPING AJ, et al. Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci Usa, 2001; 98(10): 5734-9.
WAISFISZ Q, et al. Spontaneous functional correction of homozygous Fantoni anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet, 1999; 22(4): 379-83.
WANG YJ, et al. Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia. Biol Blood Marrow Transplat. 2018; 24(10): 2003-2008.
ZEN PR, et al. Características clínicas de pacientes com anemia de Fanconi. Revista Paulista de Pediatria, 2011; 29(3): 392-399.