Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report.

Abstract

Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive disorder characterized by severe thrombocytopenia that presents soon after birth and is usually not accompanied by specific somatic malformations [Germeshausen M, Ballmaier M. Best Pract Res Clin Haematol 2021; 34: 101286]. CAMT is more prevalent in females than males [Ballmaier M, Germeshausen M. Semin Thromb Hemost 2011; 37: 673-681; Germeshausen M, Ballmaier M. Haematologica 2021; 106: 2439-2448], in contrast to other congenital bone marrow failure syndromes. Patients with CAMT also exhibit cardiac malformations, cerebellar hypoplasia, growth retardation, and a distinctive facial appearance [Yldrm A T, Güneş B T, Oymak Y, et al. Blood Coagul Fibrinolysis 2015; 26: 337-341], although it remains unknown whether these are related to CAMT. Mutations in the MPL gene, which encodes the thrombopoietin receptor, are the pathogenetic cause of CAMT [Germeshausen M, Ballmaier M. Haematologica 2021; 106: 2439-2448]. Since thrombopoietin is involved in the maintenance of hematopoietic stem cells and megakaryocyte development [Germeshausen M, Ballmaier M. Best Pract Res Clin Haematol 2021; 34: 101286], CAMT may eventually manifest as a hematopoietic failure. Currently, allogeneic hematopoietic stem cell transplantation (HSCT) is the only cure for CAMT. Human leukocyte antigen (HLA)-matched siblings are the first-choice donors for HSCT because transplantations from matched unrelated donors have a low success rate [King S, Germeshausen M, Strauss G, et al. Br J Haematol 2005; 131: 636-644]. Cancio et al. [Cancio M, Hebert K, Kim S, et al. Transplant Cell Ther 2022; 28: 101 e101-101 e106] reviewed 86 patients treated over 18 years and reported that although HLA-mismatched donors can extend the survival of CAMT patients, HLA-matched donors are preferred. The present report describes the successful treatment of a 3-year-old girl with CAMT using haploidentical allogeneic HSCT from the father, even though he harbored a mutant MPL gene.

• Authors: Sisi Wang, Xue Yang, Yuan Ai, Yiping Zhu
• Journal: Klinische Padiatrie (Klin Padiatr) Vol. 234 Issue 6 Pg. 388-390 (Nov 2022) ISSN: 1439-3824 [Electronic] Germany
• Vernacular Title: Haploide hämatopoetische Stammzelltransplantation zur Behandlung der kongenitalen megalokalytischen Thrombozytopenie bei Mädchen.
• PMID: 36379227 (Publication Type: Case Reports, Journal Article)
• Copyright: The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

Topics

• Male
• Female
• Humans
• Child, Preschool
• Congenital Bone Marrow Failure Syndromes
• Megakaryocytes (pathology)
• Thrombocytopenia (diagnosis, genetics, therapy)
• Hematopoietic Stem Cell Transplantation