JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F07%3A00004017" target="_blank" >RIV/61989592:15110/07:00004017 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia

Original language description

Childhood essential thrombocythemia (ET) is a very rare disease belonging to a group of Bcr-Abl negative myeloproliferative disorders. Our study involved 15 pediatric ET patients diagnosed at the age of 6-17 years. Monoclonal hematopoiesis was detected only in one patient, who is recently an adult (diagnosed at the age of 9). JAK2 V617F was detected in whole blood DNA by allele-specific (AS)-PCR and BsaXI restriction analysis. In our hands AS-PCR sensitivity reached the detection limit of one homozygouscell in 2000 normal cells. In addition, more sensitive AS-RT-PCR was performed on RNA isolated from granulocytes and platelets from peripheral blood. Only one patient was JAK2 V617F-positive as detected by these established protocols. In the clonal assay of hematopoietic progenitors, most patients showed hypersensitivity to erythropoietin (Epo) in vitro with the growth of Epo-independent erythroid colonies (EECs) in some of them. Over 300 myeloid colonies were picked and analyzed by rea

Czech name

Genotypování JAK2 odhalilo u pediatrických pacientů s trombocytemií vzácně se vyskytující erythroidní kolonie pozitivní na JAK2 V617F

Czech description

Dětská esenciální trombocytémie (ET) patří mezi vzácné onemocnění ze skupiny Bcr-Abl negativních myeloproliferativních onemocnění. Naše studie zahrnuje 15 dětských pacientů s ET, kteří byli diagnostikování ve věku 6-17 let ...

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

<a href="/en/project/NR9471" target="_blank" >NR9471: Myeloproliferative diseases in children</a><br>

Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2007

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Blood

ISSN

0006-4971

e-ISSN

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Volume of the periodical

110

Issue of the periodical within the volume

11

Country of publishing house

US - UNITED STATES

Number of pages

748

Pages from-to

748

UT code for WoS article

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EID of the result in the Scopus database

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