Case Report

Clinical Variation in Children with Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases

Clara Lo, Elysia Alvarez, Robert S. Ohgami, Michael Jeng

Research output: Contribution to journalArticle

Abstract

Congenital amegakaryocytic thrombocytopenia (CAMT, MIM# 604498) is a rare congenital bone marrow failure syndrome which presents early in life with abnormal bleeding because of thrombocytopenia. Classically, megakaryocytes are decreased to absent in the bone marrow. The development of aplastic anemia early in childhood has led to the recommendation for early stem cell transplantation. Quantitative or loss-of-function mutations in the myeloproliferative leukemia gene (c-mpl), whose gene product functions as the thrombopoietin receptor, have been identified as causative for CAMT. Approximately 100 cases of CAMT are published in the medical literature. We describe 2 cases of CAMT who demonstrate disparate clinical courses, thereby highlighting phenotypic differences and increasing awareness of this clinical entity.

Original languageEnglish (US)
Pages (from-to)67-70
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Volume40
Issue number1
DOIs
StatePublished - Jan 1 2018
Externally publishedYes

Fingerprint

Thrombopoietin Receptors
Mutation
Megakaryocytes
Aplastic Anemia
Stem Cell Transplantation
Thrombocytopenia
Genes
Leukemia
Bone Marrow
Hemorrhage

Keywords

  • Congenital amegakaryocytic thrombocytopenia
  • Marrow failure

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

Case Report : Clinical Variation in Children with Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. / Lo, Clara; Alvarez, Elysia; Ohgami, Robert S.; Jeng, Michael.

In: Journal of Pediatric Hematology/Oncology, Vol. 40, No. 1, 01.01.2018, p. 67-70.

Research output: Contribution to journalArticle

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