ArticleHaematologica2021
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.
Article in Haematologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- The thrombopoietin receptor S264F mutant drives MPN with marrow fibrosis through a dual mechanism.HemaSphere · 2026Article
- Novel strategies targeting mutant calreticulin in essential thrombocythemia and myelofibrosis.Blood · 2026Review
- Article
- Congenital Amegakaryocytic Thrombocytopenia Presenting With Features of Immune Thrombocytopenia: A Case Report.Cureus · 2026Article
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Fetal intracerebral hemorrhage: review of the literature and practice considerations.Pediatric research · 2025Review
- First Report of MPL c.23T>G (p.M8R) Variant in Congenital Amegakaryocytic Thrombocytopenia: A Case Report.EJHaem · 2025Article
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- Article
- Decitabine facilitates thrombopoiesis independent of the thrombopoietin receptor in zebrafish.Blood science (Baltimore, Md.) · 2025Article
- A review on the functional characteristics of the c-Myeloproliferative Leukaemia (c-MPL) gene and its isoforms.Cellular oncology (Dordrecht, Netherlands) · 2024Review
- Thrombopoietin, the Primary Regulator of Platelet Production: From Mythos to Logos, a Thirty-Year Journey.Biomolecules · 2024Review
- Deciphering the differential impact of thrombopoietin/MPL signaling on hematopoietic stem/progenitor cell function in bone marrow and spleen.Stem cell reports · 2024Article
- A rare case of congenital amegakaryocytic thrombocytopenia associated with possible neonatal alloimmune thrombocytopenia and neutropenia by anti-HLA antibodies.Blood transfusion = Trasfusione del sangue · 2024Article
- Article
- Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.Journal, genetic engineering & biotechnology · 2023Article
- Pediatric Bone Marrow Failure: A Broad Landscape in Need of Personalized Management.Journal of clinical medicine · 2023Review
- Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.Annals of hematology · 2023Article
- Defective binding of ETS1 and STAT4 due to a mutation in the promoter region ofHaematologica · 2023Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital amegakaryocytic thrombocytopenia caused by deleterious homozygous or compound heterozygous mutations in MPL (CAMT-MPL) is a rare inherited bone marrow failure syndrome presenting as an isolated thrombocytopenia at birth progressing to pancytopenia due to exhaustion of hematopoietic progenitors. The analysis of samples and clinical data from a large cohort of 56 patients with CAMT-MPL resulted in a detailed description of the clinical picture and reliable genotype-phenotype correlations for this rare disease. We extended the spectrum of CAMT causing MPL mutations regarding number (17 novel mutations) and impact. The clinical courses showed a great variability with respect to the severity of thrombocytopenia, the development of pancytopenia and the consequences from bleedings. The most severe clinical problems were (1) intracranial bleedings pre- and perinatally and the resulting long-term consequences, and (2) the development of aplastic anemia in the later course of the disease. An important and new finding was that thrombocytopenia was not detected at birth in a quarter of the patients. The rate of non-hematological abnormalities in CAMT-MPL was higher than described so far. Most of the anomalies were related to the head region (brain anomalies, ocular and orbital anomalies) and consequences of intracranial bleedings. The present study demonstrates a higher variability of clinical courses than described so far and has important implications on diagnosis and therapy. The diagnosis CAMT-MPL has to be considered even for those patients who are inconspicuous in the first months of life or show somatic anomalies typical for other inherited bone marrow failure syndromes.
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