Abstract
Myeloproliferative neoplasms (MPNs) are classically divided into BCR RhoGEF and GTPase activating protein (BCR)-ABL proto‑oncogene 1 non‑receptor tyrosine kinase (ABL) positive chronic myeloid leukemia (CML) and BCR‑ABL negative MPNs, including essential thrombocythemia (ET). One of the major diagnostic criteria for ET is the absence of the philadelphia chromosome, thus when present it is almost indicative of CML. ET and CML are considered to be mutually exclusive; however, there are rare situations in which patients with ET present positive BCR‑ABL without the features of CML. Although from the literature review, the frequency of JAK2V617F mutation and BCR‑ABL translocation coexistence in MPNs is low, it may be higher than expected. The current study reported cases of two patients with an initial diagnosis of ET in the presence of JAK2V617F mutation and BCR‑ABL translocation by fluorescent in situ hybridization. Both patients presented with a heterozygous BCR‑ABL translocation, and absence of p190 and p210 transcripts, seemingly a der(9) in the background of an ET JAK2V617F mutation.
References
Jul 1, 1991·Cancer Genetics and Cytogenetics·D P LeBrunP A Poldre
Jun 1, 1973·Nature·J D Rowley
Jul 1, 1996·Cancer Genetics and Cytogenetics·Y L KwongT K Chan
Dec 22, 1999·Leukemia·J J van DongenA Biondi
Sep 22, 2001·Blood·P HellerF C Molinas
Mar 21, 2003·Leukemia·G SpecchiaM Rocchi
Apr 1, 1962·Blut·P C NOWELL
Apr 20, 2005·Cancer Cell·Ross L LevineD Gary Gilliland
Apr 29, 2005·The New England Journal of Medicine·Robert KralovicsRadek C Skoda
Jan 11, 2007·Cancer Genetics and Cytogenetics·Thomas Stauffer LarsenGitte Birk Kerndrup
Dec 5, 2009·Best Practice & Research. Clinical Haematology·Ross L Levine
Jan 5, 2010·International Journal of Hematology·Ping Chong BeeN Menaka
Sep 24, 2011·Blood·Lisa PieriAlessandro M Vannucchi
Aug 1, 2012·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Jennifer M HummelMegan S Lim
Oct 22, 2014·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·You-Wen QinChun Wang
Jul 17, 2015·JAMA Oncology·Ayalew Tefferi, Animesh Pardanani
Oct 3, 2015·Blood Cancer Journal·A ZhouS T Oh
Oct 23, 2015·American Journal of Hematology·Ayalew Tefferi
Apr 14, 2016·Blood·Daniel A ArberJames W Vardiman
Jun 28, 2016·Oncology Letters·Katia Borgia Barbosa PagnanoIrene Lorand-Metze
Jul 2, 2016·Blood·David A HindsJason Gotlib
Dec 29, 2016·Blood·Elisa Rumi, Mario Cazzola