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

T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature.

Journal of pediatric hematology/oncology - 1 Aug 2021

Beauvais David, Cabannes-Hamy Aurélie, Leblanc Thierry, Dhédin Nathalie, Magda Alexis, Cuccuini Wendy, Clappier Emmanuelle, Vial Yoann, Boissel Nicolas

Abstract excerpt

Thrombocytopenia-absent radius (TAR) syndrome is a rare inherited bone marrow failure syndrome not generally associated with acute leukemia. The authors report a case of T-cell acute lymphoblastic leukemia in an adult female individual newly diagnosed with TAR syndrome. A 347-kb microdeletion of chromosome 1q21.1 involving the RBM8A gene was detected within a gain of whole chromosome 1. Next-generation sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Congenital Bone Marrow Failure Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Share to Radius

Share to RNA-Binding Proteins

Share to Thrombocytopenia

Share to Upper Extremity Deformities, Congenital

Share to Young Adult

Source

Identifiers

PMID: 32815886
DOI: 10.1097/MPH.0000000000001919

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature.PMID 32815886Read ↗

Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature.Semantic proximity Read ↗

Successful Haplo-hematopoietic Stem Cell Transplantation for Juvenile Myelomonocytic Leukemia in a Child with Underlying Thrombocytopenia-Absent Radius Syndrome: A Unique CaseSemantic proximity Read ↗

A new approach for molecular diagnosis of TAR syndrome.Semantic proximity Read ↗

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.Semantic proximity Read ↗

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.Semantic proximity Read ↗

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.Semantic proximity Read ↗

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASemantic proximity Read ↗

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.Semantic proximity Read ↗

A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.Semantic proximity Read ↗

Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.Semantic proximity Read ↗

Thrombocytopenia-absent radius syndrome.Semantic proximity Read ↗

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.Semantic proximity Read ↗

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