Congenital amegakaryocytic thrombocytopenia - 3 Novel c-MPL mutations and their phenotypic correlations

Orna Steinberg, Gil Gilad, Orly Dgany, Tatyana Krasnov, Meira Zoldan, Ruth Laor, Joseph Kapelushnik, Herzel Gabriel, Chaim Churi, Jerry Stein, Isaac Yaniv, Hannah Tamary

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare bone marrow failure syndrome associated with thrombocytopenia and a tendency to progress to aplastic anemia. Mutations in the c-MPL gene encoding for thrombopoietin receptor have been identified in the majority of the patients. Previous studies suggest a genotype-phenotype correlation wherein the severity of the disease depends on the type of mutation present and residual thrombopoietin receptor activity. The present study describes the clinical and genetic findings on a series of 7 patients with CAMT, 3 of them siblings. The patients were homozygous for 5 mutations in the c-MPL gene, including 3 unique ones: c.212+5G>A, C76T, and G1162C. The clinical picture was variable; 1 patient who was homozygous for a nonsense mutation in exon 1 (C76T) developed infantile acute lymphoblastic leukemia, whereas patients who were homozygous for a splice-site mutation (c.212+5G>A) expressing both normal and mutated transcripts had a milder clinical course. As previously suggested, c-MPL mutation analysis in CAMT patients helps to predict the clinical course and to provide optimal therapy.

Original languageEnglish
Pages (from-to)822-825
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Issue number12
StatePublished - 1 Dec 2007
Externally publishedYes


  • CAMT
  • Congenital amegakaryocytic thrombocytopenia
  • TPO
  • c-MPL


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