Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

Journal of thrombosis and haemostasis : JTH - 1 Dec 2017

Zaninetti C, Santini V, Tiniakou M, Barozzi S, Savoia A, Pecci A

Abstract excerpt

Essentials Thrombocytopenia 2 (THC2) is an inherited thrombocytopenia (IT) with dysmegakaryopoiesis. Physicians often do not suspect the genetic origin of thrombocytopenia in patients with THC2. We report two THC2 patients misdiagnosed with myelodysplasia and treated with chemotherapy. IT should be always considered in patients with isolated thrombocytopenia and dysmegakaryopoiesis. SUMMARY: Thrombocytopenia 2...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Marrow
Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Diagnostic Errors

Share to Intercellular Signaling Peptides and Proteins

Share to Myelodysplastic Syndromes

Share to Thrombocytopenia

Share to Thrombopoiesis

Source

Identifiers

PMID: 28976612
DOI: 10.1111/jth.13855

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.PMID 28976612Read ↗

Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome.Semantic proximity Read ↗

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.Semantic proximity Read ↗

ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.Semantic proximity Read ↗

Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasiaSemantic proximity Read ↗

Inherited thrombocytopenias frequently diagnosed in adults.Semantic proximity Read ↗

ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26Semantic proximity Read ↗

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.Semantic proximity Read ↗

Inherited thrombocytopenias: an approach to diagnosis and managementSemantic proximity Read ↗

Genetics of inherited thrombocytopeniasSemantic proximity Read ↗

Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan.Semantic proximity Read ↗

Inherited thrombocytopenias: the evolving spectrum.Semantic proximity Read ↗

Molecular basis of inherited thrombocytopenias: an update.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.