Successful sequential liver and hematopoietic stem cell transplantation in a patient with Fanconi anemia.
Fanconi anemia
hematopoietic stem cell transplantation
liver transplantation
Journal
Pediatric transplantation
ISSN: 1399-3046
Titre abrégé: Pediatr Transplant
Pays: Denmark
ID NLM: 9802574
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
revised:
09
01
2023
received:
18
10
2022
accepted:
28
02
2023
medline:
24
7
2023
pubmed:
15
3
2023
entrez:
14
3
2023
Statut:
ppublish
Résumé
In Fanconi anemia bone marrow failure is the major cause of morbidity and mortality and hematopoietic stem cell transplantation represents the only curative treatment. Liver disease, in terms of elevated liver function tests, as well as benign and malignant liver tumors, occurs especially in case of androgen treatment. We report a unique case of a child with Fanconi anemia with FANCD2 mutation who developed neonatal cryptogenic liver cirrhosis and bone marrow failure. The child successfully underwent sequential liver transplantation and hematopoietic stem cell transplantation in the first 2 years of life. Nineteen months after hematopoietic stem cell transplantation and 30 months after liver transplantation, the patient is clinically well with normal hematopoietic function and excellent liver function. This is the first FA patient who successfully received sequential LT and HSCT highlighting that successful sequential transplantation is feasible in Fanconi anemia patients.
Sections du résumé
BACKGROUND
In Fanconi anemia bone marrow failure is the major cause of morbidity and mortality and hematopoietic stem cell transplantation represents the only curative treatment. Liver disease, in terms of elevated liver function tests, as well as benign and malignant liver tumors, occurs especially in case of androgen treatment. We report a unique case of a child with Fanconi anemia with FANCD2 mutation who developed neonatal cryptogenic liver cirrhosis and bone marrow failure. The child successfully underwent sequential liver transplantation and hematopoietic stem cell transplantation in the first 2 years of life. Nineteen months after hematopoietic stem cell transplantation and 30 months after liver transplantation, the patient is clinically well with normal hematopoietic function and excellent liver function.
CONCLUSION
This is the first FA patient who successfully received sequential LT and HSCT highlighting that successful sequential transplantation is feasible in Fanconi anemia patients.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e14503Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Soulier J. Fanconi Anemia. (Figure 1):492-497.
Fiesco-roa MO, Giri N, Mcreynolds LJ, Ana F, Alter BP. Genotype-phenotype associations in Fanconi anemia: a literature review. Blood Rev. 2019;37:100589. doi:10.1016/j.blre.2019.100589
Dufour C, Rondelli R, Locatelli F, et al. Stem cell transplantation from HLA-Matched Related Donor for Fanconi ’ s Anaemia: A Retrospective Review of the Multicentric Italian Experience on Behalf of Associazione Italiana di Ematologia Ed Oncologia Pediatrica ( AIEOP ) ± Gruppo Italiano Trapianto. Br J Haematol. 2001;112(3):796-805.
Yabe M, Morio T, Tabuchi K, Tomizawa D, Hasegawa D, Ishida H. Long - term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis. Int J Hematol. 2020;(0123456789);113:144. doi:10.1007/s12185-020-02991-x
Zubicaray J, Bosman P, Kansoy S, et al. Haplo-Identical or Mismatched Unrelated Donor Hematopoietic Cell Transplantation for Fanconi Anemia: Results from the Severe Aplastic Anemia Working Party of the EBMT. Am J Hematol. 2020;2021:571-579. doi:10.1002/ajh.26135
Kutler DI, Singh B, Satagopan J, et al. A 20-Year perspective on the international fanconi anemia registry (IFAR). Blood. 2003;101(4):1249-1256. doi:10.1182/blood-2002-07-2170.Supported
Masserot-Lureau C, Adoui N, Degos F, et al. Incidence of liver abnormalities in Fanconi anemia patients. Am J Hematol. 2012;87(5):547-549. doi:10.1002/ajh.23153
Schechter T, Gassas A, Weitzman S, et al. Hematopoietic stem-cell transplantation following solid-organ transplantation in children. Bone Marrow Transplant. 2011;46(10):1321-1325. doi:10.1038/bmt.2011.153
Cl V, Wa P, Hipps J, Sequential KKA. Sequential renal and bone marrow transplants in a child with fanconi anemia. Pediatr Transplant. 2016;20(1):146-150. doi:10.1111/petr.12619
Miano M, Ginevri F, Arcangelo Nocera SD, et al. Successful double bone marrow and renal transplantation in a patient with fanconi anaemia. Blood. 2016;99(9):3482-3484.
Malric A, Defachelles A, Leblanc T, Lescoeur B, Stoppa-lyonnet D, Bourdeaut F. Fanconi anemia and solid malignancies in childhood: A national retrospective study identification of patients. Pediatr Blood Cancer. 2014;2015:463-470. doi:10.1002/pbc
De LP, Porcher R, Dalle J, et al. Allogeneic hematopoietic stem cell transplantation in fanconi anemia: the european group for blood and marrow transplantation experience. Blood. 2013;122(26):4279-4286. doi:10.1182/blood-2013-01-479733
Kalb R, Neveling K, Hoehn H, et al. Hypomorphic mutations in the gene encoding a key fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet. 2007;80:895-910. doi:10.1086/517616
Alter BP. Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol. 2015;27:214-221. doi:10.1016/j.beha.2014.10.002.Fanconi
Dufour C. How I Manage Patients with Fanconi Anaemia. Br J Haematol. 2017;178(1):32-47. doi:10.1111/bjh.14615