Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children77010.24287/1726-1708-2024-23-1-149-152CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯDiagnosis and Management of Myelodysplastic Syndrome in a Fanconi Anemia Patient: A Case ReportDiagnosis and Management of Myelodysplastic Syndrome in a Fanconi Anemia Patient: A Case Reporthttps://orcid.org/0000-0003-3482-2195AlghasiArash
Iran, Islamic Republic of

Ahvaz

arashalqasi@yahoo.comhttps://orcid.org/0000-0002-4027-2030YousefiHomayon
Iran, Islamic Republic of

Ahvaz

yousefi.h@ajums.ac.irKhedriReza
Iran, Islamic Republic of

Ahvaz

Reza.khedri.1996.ajums@gmail.comhttps://orcid.org/0000-0002-1096-5661Mahmoudian-SaniMohammad-Reza
Iran, Islamic Republic of

Mohammad-Reza Mahmoudian-Sani, Assistant Professor

Ahvaz

Ahvaz

mohamadsani495@gmail.comThalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical SciencesClinical Research Development Unit, Golestan Hospital, Ahvaz Jundishapur University of Medical Sciences190420242311491520310202308042024Copyright ©; 2024, «D. Rogachev NMRCPHOI»Copyright ©; 2024, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2024«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/770

   An uncommon genetic condition known as Fanconi anemia (FA) is characterized by bone marrow failure, chromosomal instability, and a high susceptibility to cancer. We report a case study of a patient diagnosed with FA who subsequently developed myelodysplastic syndrome (MDS). Informed consent was obtained from the patient’s parents/legal guardians. Consent for publication was obtained from the patient’s parents/legal guardians. We present a case of a 10-year-old boy with a known diagnosis of FA who experienced a decline in platelet count and subsequent bone marrow abnormalities suggestive of MDS. Cytogenetic analysis confirmed the diagnosis of FA with multiple chromosomal breaks, and flow cytometric analysis supported the diagnosis of MDS with excess blasts. The patient underwent a stem cell transplantation from a full matched donor (his father). Stem cell transplantation from a fully matched related donor can be effective in treating FA and associated complications. The transplantation was complicated by graft-versus-host disease and cytomegalovirus infection, however the child achieved complete normalization and exhibited no signs of diarrhea or dependence on immunosuppressive drugs at the six-month follow-up. The case report emphasizes the significance of multidisciplinary care and close follow-up for pediatric FA and MDS patients, suggesting further research and standardization of diagnostic procedures.

   An uncommon genetic condition known as Fanconi anemia (FA) is characterized by bone marrow failure, chromosomal instability, and a high susceptibility to cancer. We report a case study of a patient diagnosed with FA who subsequently developed myelodysplastic syndrome (MDS). Informed consent was obtained from the patient’s parents/legal guardians. Consent for publication was obtained from the patient’s parents/legal guardians. We present a case of a 10-year-old boy with a known diagnosis of FA who experienced a decline in platelet count and subsequent bone marrow abnormalities suggestive of MDS. Cytogenetic analysis confirmed the diagnosis of FA with multiple chromosomal breaks, and flow cytometric analysis supported the diagnosis of MDS with excess blasts. The patient underwent a stem cell transplantation from a full matched donor (his father). Stem cell transplantation from a fully matched related donor can be effective in treating FA and associated complications. The transplantation was complicated by graft-versus-host disease and cytomegalovirus infection, however the child achieved complete normalization and exhibited no signs of diarrhea or dependence on immunosuppressive drugs at the six-month follow-up. The case report emphasizes the significance of multidisciplinary care and close follow-up for pediatric FA and MDS patients, suggesting further research and standardization of diagnostic procedures.

Fanconi anemiamyelodysplastic syndromestem cell transplantationgraft-versus-host diseasecytogenetic analysisflow cytometryFanconi anemiamyelodysplastic syndromestem cell transplantationgraft-versus-host diseasecytogenetic analysisflow cytometryNot specifiedNot specifiedChe R., Zhang J., Nepal M., Han B., Fei P. Multifaceted Fanconi Anemia Signaling. Trends Genet 2018; 34 (3): 171–83.Gulbis B., Eleftheriou A., Angastiniotis M., Ball S., Surrallés J., Castella M., et al. Epidemiology of rare anaemias in Europe. Adv Exp Med Biol 2010; 686: 375–96.Rama H., Gupta D., Chatterjee T., Gupta S. Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy. Indian J Hematol Blood Transfus 2014; 30(Suppl 1): 379–82.Auerbach A.D. Fanconi anemia and its diagnosis. Mutat Res 2009; 668 (1–2): 4–10.Dufour C., Pierri F. Modern management of Fanconi anemia. Hematology Am Soc Hematol Educ Program 2022; 2022 (1): 649–57.Lovatel V.L., de Souza D.C., Alvarenga T.F., Capela de Matos R.R., Diniz C., Schramm M.T., et al. An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia. Mol Cytogenet 2018; 11: 40.Savage S.A., Walsh M.F. Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia. Hematol Oncol Clin North Am 2018; 32 (4): 657–68.Gupta G., Singh R., Kotasthane D.S., Kotasthane V.D. Myelodysplastic syndromes/neoplasms: recent classification system based on World Health Organization Classification of Tumors - International Agency for Research on Cancer for Hematopoietic and Lymphoid Tissues. J Blood Med 2010; 1: 171–82.Zini G. Diagnostics and Prognostication of Myelodysplastic Syndromes. Ann Lab Med 2017; 37 (6): 465–74.Invernizzi R., Quaglia F., Porta M.G. Importance of classical morphology in the diagnosis of myelodysplastic syndrome. Mediterr J Hematol Infect Dis 2015; 7 (1): e2015035.Hall J., Foucar K. Diagnosing myelodysplastic/myeloproliferative neoplasms: laboratory testing strategies to exclude other disorders. Int J Lab Hematol 2010; 32 (6 Pt 2): 559–71.Auerbach A.D. Diagnosis of Fanconi anemia by diepoxybutane analysis. Curr Protoc Hum Genet 2015; 85: 8.7.1–8.7.17.van de Loosdrecht A.A., Kern W., Porwit A., Valent P., Kordasti S., Cremers E., et al. Clinical application of flow cytometry in patients with unexplained cytopenia and suspected myelodysplastic syndrome: A report of the European LeukemiaNet International MDS-Flow Cytometry Working Group. Cytometry B Clin Cytom 2023; 104 (1): 77–86.van der Velden V.H.J., Preijers F., Johansson U., Westers T.M., Dunlop A., Porwit A., et al. Flow cytometric analysis of myelodysplasia: Pre-analytical and technical issues-Recommendations from the European LeukemiaNet. Cytometry B Clin Cytom 2023; 104 (1): 15–26.van de Loosdrecht A.A., Alhan C., Béné M.C., Della Porta M.G., Dräger A.M., Feuillard J., et al. Standardization of flow cytometry in myelodysplastic syndromes: report from the first European LeukemiaNet working conference on flow cytometry in myelodysplastic syndromes. Haematologica 2009; 94 (8): 1124–34.Saber W., Horowitz M.M. Transplantation for myelodysplastic syndromes: who, when, and which conditioning regimens. Hematology Am Soc Hematol Educ Program 2016; 2016 (1): 478–84.Cioc A.M., Wagner J.E., Mac-Millan M.L., DeFor T., Hirsch B. Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics. Am J Clin Pathol 2010; 133 (1): 92–100.Ayas M., Saber W., Davies S.M., Harris R.E., Hale G.A., Socie G., et al. Allogeneic hematopoietic cell transplantation for fanconi anemia in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome, or acute leukemia. J Clin Oncol 2013; 31 (13): 1669–76.