Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature

Pediatr Transplant. 2014 Feb;18(1):E31-4. doi: 10.1111/petr.12175. Epub 2013 Oct 14.

Abstract

CAMT is a bone marrow failure syndrome that usually presents with isolated thrombocytopenia soon after birth. HSCT is curative, and MAC is associated with increased transplant-related morbidity and mortality, especially in the unrelated setting. We used a RIC regimen with alemtuzumab, fludarabine, and melphalan in a seven-month-old patient with CAMT who underwent a MUD HSCT. The transplant was well tolerated with few complications. Neutrophil and platelet engraftment occurred on day +12 and +29, respectively, and she had 100% donor chimerisms on days +19.

Keywords: MPL gene mutation; congenital amegakaryocytic thrombocytopenia; hematopoietic stem cell transplant; matched-unrelated donor; reduced intensity conditioning.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Alemtuzumab
  • Antibodies, Monoclonal, Humanized / administration & dosage
  • Blood Platelets / cytology
  • Congenital Bone Marrow Failure Syndromes
  • Female
  • Hematopoietic Stem Cell Transplantation*
  • Hepatic Veno-Occlusive Disease / complications
  • Humans
  • Infant
  • Melphalan / administration & dosage
  • Methylprednisolone / administration & dosage
  • Mucositis / complications
  • Neutrophils / cytology
  • Thrombocytopenia / therapy*
  • Transplantation Conditioning / methods*
  • Vidarabine / administration & dosage
  • Vidarabine / analogs & derivatives

Substances

  • Antibodies, Monoclonal, Humanized
  • Alemtuzumab
  • Vidarabine
  • fludarabine
  • Melphalan
  • Methylprednisolone

Supplementary concepts

  • Congenital amegakaryocytic thrombocytopenia