[Complex molecular genetic algorithm in the diagnosis of myeloproliferative neoplasms].

Abstract:

INTRODUCTION:Mutations in Janus kinase 2, calreticulin and thrombopoietin receptor genes have been identified in the genetic background of Philadelphia chromosome negative, "classic" myeloproliferative neoplasms. AIM:The aim of the authors was to identify driver mutations in a large myeloproliferative cohort of 949 patients. METHOD:A complex array of molecular techniques (qualitative and quantitative allele-specific polymerase chain reactions, fragment analyzes, high resolution melting and Sanger sequencing) was applied. RESULTS:All 354 patients with polycythemia vera carried Janus kinase 2 mutations (V617F 98.6%, exon 12: 1.4%). In essential thrombocythemia (n = 468), the frequency of V617F was 61.3% (n = 287), that of calreticulin 25.2% (n = 118), and that of thrombopoietin receptor mutations 2.1% (n = 10), while 11.3% (n = 53) were triple-negative. Similar distribution was observed in primary myelofibrosis (n = 127): 58.3% (n = 74) V617F, 23.6% (n = 30) calreticulin, 6.3% (n = 8) thrombopoietin receptor mutation positive and 11.8% (n = 15) triple-negative. CONCLUSIONS:The recent discovery of calreticulin gene mutations led to definite molecular diagnostics in around 90% of clonal myeloproliferative cases. :Bevezetés: A Philadelphia-kromoszóma negatív, „klasszikus” myeloproliferativ neoplasiák genetikai hátterében a Janus kináz 2, a calreticulin- és a trombopoetinreceptor génmutációit azonosították. Célkitűzés: A kóroki mutáció azonosítása 949, myeloproliferativ neoplasiában szenvedő betegnél. Módszer: A szerzők minőségi és mennyiségi allélspecifikus polimeráz láncreakció, fragmensanalízis, nagy felbontású olvadásigörbe-analízis és Sanger-szekvenálás kombinációit alkalmazták. Eredmények: 354 polycytaemia verában szenvedő beteg 98,6%-a (n = 349) hordozta a Janus kináz 2 gén V617F mutációját, 1,4%-uk (n = 5) pedig a 12. exon mutációit. Esszenciális thrombocythaemiában (n = 468) a betegek 61,3%-ánál (n = 287) V617F-, 25,2%-ánál (n = 118) calreticulin- és 2,1%-ánál (n = 10) trombopoetinreceptor-génmutációt találtak, míg a betegek 11,3%-a (n = 53) a fenti mutációk egyikét sem hordozta (triplán negatívak). Hasonló eloszlást tapasztaltak primer myelofibrosisban (n = 127): 58,3% (n = 74) V617F-, 23,6% (n = 30) calreticulin-, 6,3% (n = 8) trombopoetinreceptor mutáció pozitív, 11,8% (n = 15) triplán negatív. Következtetések: A calreticulingént érintő, nemrégiben felfedezett mutációk révén a Philadelphia kromoszóma negatív, „klasszikus” myeloproliferativ neoplasiában szenvedő betegek közel 90%-ánál határozható meg a betegséget okozó genetikai eltérés. Orv. Hetil., 2014, 155(52), 2074–2081.

journal_name

Orv Hetil

journal_title

Orvosi hetilap

authors

Krähling T,Balassa K,Meggyesi N,Bors A,Csomor J,Bátai Á,Halm G,Egyed M,Fekete S,Reményi P,Masszi T,Tordai A,Andrikovics H

doi

10.1556/OH.2014.30051

subject

Has Abstract

pub_date

2014-12-28 00:00:00

pages

2074-81

issue

52

eissn

0030-6002

issn

1788-6120

pii

573X55433014H201

journal_volume

155

pub_type

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