Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1–RUNX1T1 leukemia with t(8;12;21)

Variant chromosomal translocations associated with t(8;21) are observed in 3–4% of acute myeloid leukemia (AML) cases with a RUNX1 – RUNX1T1 fusion gene. However, the molecular events that occur in variants of t(8;21) are not well characterized. In the present study, we report genetic features of a...

Full description

Saved in:
Bibliographic Details
Published in:International journal of hematology 2018-08, Vol.108 (2), p.208-212
Main Authors: Abe, Akihiro, Yamamoto, Yukiya, Katsumi, Akira, Okamoto, Akinao, Tokuda, Masutaka, Inaguma, Yoko, Yamamoto, Kiyoko, Yanada, Masamitsu, Kanie, Tadaharu, Tomita, Akihiro, Akatsuka, Yoshiki, Okamoto, Masataka, Kameyama, Toshiki, Mayeda, Akila, Emi, Nobuhiko
Format: Article
Language:English
Subjects:
Acute myeloid leukemia
Bone marrow
Case Report
Chromosome translocations
Cohen syndrome
Fusion protein
Gene rearrangement
Granule cells
Granulopoiesis
Hematology
Leukemia
Medicine
Medicine & Public Health
Myeloid leukemia
Neutropenia
Oncology
Ribonucleic acid
RNA
Runx1 protein
Translocation
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Variant chromosomal translocations associated with t(8;21) are observed in 3–4% of acute myeloid leukemia (AML) cases with a RUNX1 – RUNX1T1 fusion gene. However, the molecular events that occur in variants of t(8;21) are not well characterized. In the present study, we report genetic features of a variant three-way translocation of t(8;12;21)(q22;p11;q22) in a patient with AML. In this patient, leukemia cells lacked azurophilic granules, which does not correspond with the classic features of t(8;21). RNA-seq analysis revealed that TM7SF3 at 12p11 was fused to VPS13B at 8q22 and VPS13B to RUNX1, in addition to RUNX1 – RUNX1T1 . VPS13B was located near RUNX1T1 and both were localized at the same chromosomal bands. The reading frames of TM7SF3 and VPS13B did not match to those of VPS13B and RUNX1 , respectively. Disruption of VPS13B causes Cohen syndrome, which presents intermittent neutropenia with a left-shifted granulopoiesis in the bone marrow. Disruption of VPS13B may thus cause the unusual features of RUNX1 – RUNX1T1 leukemia. Our case indicates that rearrangement of VPS13B may be additional genetic events in variant t(8;21).
ISSN:0925-5710
1865-3774
DOI:10.1007/s12185-017-2387-x