A Balanced Robertsonian Translocation in a Patient with a Janus Kinase 2–Positive Polycythemia Vera

Author:

Strasser Bernhard1ORCID,Paar Christian1,Kiesl David2,Tomasits Josef1

Affiliation:

1. Institute of Laboratory Medicine, Kepler-University-Hospital Linz, Linz, Austria

2. Department of Hematology, Kepler-University-Hospital Linz, Linz, Austria

Abstract

Abstract A male patient with a persistent, combined erythrocytosis, leukocytosis, and thrombocytosis without representative evidence of reactive increase emerged as having a myeloproliferative disorder. Molecular-biological assessment yielded Janus kinase 2–positive results, and the patient was diagnosed with polycythemia vera. In addition to these findings, further karyotyping accounted for a Robertsonian translocation. Because this rearrangement was a balanced variant, we concluded that this cytogenetic result might not significantly alter the diagnosis of polycythemia vera.

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Reference23 articles.

1. Acquired Robertsonian translocations are not rare events in acute leukemia and lymphoma;Welborn;Cancer Genet Cytogenet.,2004

2. Mortality and cancer incidence in carriers of balanced Robertsonian translocations: a national cohort study;Schoemaker;Am J Epidemiol.,2019

3. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints;Warburton;Am J Hum Genet.,1991

4. An acquired Robertsonian 13;15 translocation in acute myelogenous leukemia (M5b);Ino;Int J Hematol.,1994

5. Acute myelogeneous leukemia (M5a) that demonstrated chromosomal abnormality of Robertsonian 13;21 translocation at onset;Shimokawa;Intern Med.,2004

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3