2013
DOI: 10.1182/blood-2013-04-499319
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ANKRD26-related thrombocytopenia and myeloid malignancies

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Cited by 153 publications
(120 citation statements)
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“…ANKRD26 mutations are identified in 23 of 215 individuals (11%) in the inherited thrombocytopenia registry. 37 Patients with ANKD26-related thrombocytopenia, previously called thrombocytopenia 2, are characterized by moderate thrombocytopenia with normal platelet size, no or very mild spontaneous bleeding, and predisposition to developing myeloid neoplasm. An analysis of 78 affected individuals from 21 families with ANKRD26 mutations reported isolated thrombocytopenia with a mean platelet count of 48 000/lL and normal hemoglobin and leukocyte counts.…”
Section: Myeloid Neoplasms With Germline Ankd26 Mutationmentioning
confidence: 99%
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“…ANKRD26 mutations are identified in 23 of 215 individuals (11%) in the inherited thrombocytopenia registry. 37 Patients with ANKD26-related thrombocytopenia, previously called thrombocytopenia 2, are characterized by moderate thrombocytopenia with normal platelet size, no or very mild spontaneous bleeding, and predisposition to developing myeloid neoplasm. An analysis of 78 affected individuals from 21 families with ANKRD26 mutations reported isolated thrombocytopenia with a mean platelet count of 48 000/lL and normal hemoglobin and leukocyte counts.…”
Section: Myeloid Neoplasms With Germline Ankd26 Mutationmentioning
confidence: 99%
“…38 The platelets had normal size, which differentiated this group of patients from those with other forms of inherited thrombocytopenias. 37,38 Platelets may appear pale because of reduced platelet granule contents. Electronic microscopy has demonstrated borderline low mean dense granules per platelet, decreased a granules, and an increased canalicular network pattern in most of the affected individuals.…”
Section: Myeloid Neoplasms With Germline Ankd26 Mutationmentioning
confidence: 99%
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“…5 Similarly, the identification in 2013 of ANKRD26 as the gene responsible for a mild form of IT stimulated a collaborative, international study revealing that this disorder exposes subjects to the risk of myelodysplastic syndromes and acute myeloid leukemia. 6 A similar risk was shown to affect also subjects with familial platelet disorder with predisposition to acute myeloid leukemia due to mutations in RUNX1, while, quite recently, it has been suggested that subjects with ETV6-related thrombocytopenia are at risk of lymphoid malignancies. 7 Thus, recognizing patients with these ITs predisposing to additional disorders is mandatory in order to personalize follow up and be ready to give appropriate treatments if new illnesses develop.…”
mentioning
confidence: 93%