Literature DB >> 25833723

Myelodysplastic syndrome with t(9;22)(p24;q11.2), a BCR-JAK2 fusion: case report and review of the literature.

Bulent Kantarcioglu1, Isik Kaygusuz-Atagunduz, Ant Uzay, Tayfur Toptas, Tulin Firatli Tuglular, Mahmut Bayik.   

Abstract

The human JAK2 gene is mainly targeted by two types of genetic lesions that play roles in the pathogenesis of hematologic malignancies: intragenic mutations and chromosomal translocations. Chromosomal translocations of JAK2 are typically associated with myeloid or lymphoid malignancies with an aggressive course and poor outcome. Here we report a t(9;22)(p24;q11.2) translocation, in a MDS patient and review results associated with BCR-JAK2 fusion reported in the literature.

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Year:  2015        PMID： 25833723     DOI： 10.1007/s12185-015-1792-2

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


  19 in total

Review 1.  The saga of JAK2 mutations and translocations in hematologic disorders: pathogenesis, diagnostic and therapeutic prospects, and revised World Health Organization diagnostic criteria for myeloproliferative neoplasms.

Authors:  Cristina A Smith; Guang Fan
Journal:  Hum Pathol       Date:  2008-06       Impact factor: 3.466

2.  Ruxolitinib inhibits transforming JAK2 fusion proteins in vitro and induces complete cytogenetic remission in t(8;9)(p22;p24)/PCM1-JAK2-positive chronic eosinophilic leukemia.

Authors:  Els Lierman; Dominik Selleslag; Sanne Smits; Johan Billiet; Peter Vandenberghe
Journal:  Blood       Date:  2012-08-16       Impact factor: 22.113

3.  Chromosomal translocation t(9;22)(p24;q11) appears to be recurrently associated with myeloid malignancy with aggressive course.

Authors:  Svetlana Angelova; Sylva Spassova; Stavri Toshkov; Velizar Shivarov
Journal:  Leuk Lymphoma       Date:  2011-06-12

4.  A BCR-JAK2 fusion gene from ins(22;9)(q11;p13p24) in a patient with atypical chronic myeloid leukemia.

Authors:  Yang Xu; Jia Yin; Jinlan Pan; Chunxiao Wu; Qinrong Wang; Hong Yao; Depei Wu; Suning Chen; Aining Sun
Journal:  Leuk Lymphoma       Date:  2013-10

5.  Efficacy of ruxolitinib in chronic eosinophilic leukemia associated with a PCM1-JAK2 fusion gene.

Authors:  Elisa Rumi; Jelena D Milosevic; Ilaria Casetti; Irene Dambruoso; Daniela Pietra; Emanuela Boveri; Marina Boni; Paolo Bernasconi; Francesco Passamonti; Robert Kralovics; Mario Cazzola
Journal:  J Clin Oncol       Date:  2013-04-29       Impact factor: 44.544

6.  Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes.

Authors:  Juliana Schwaab; Marcin Knut; Claudia Haferlach; Georgia Metzgeroth; Hans-Peter Horny; Andrew Chase; William Tapper; Joannah Score; Katherine Waghorn; Nicole Naumann; Mohamad Jawhar; Alice Fabarius; Wolf-Karsten Hofmann; Nicholas C P Cross; Andreas Reiter
Journal:  Ann Hematol       Date:  2014-09-27       Impact factor: 3.673

Review 7.  JAK and MPL mutations in myeloid malignancies.

Authors:  Ayalew Tefferi
Journal:  Leuk Lymphoma       Date:  2008-03

8.  Leukaemia cutis in atypical chronic myeloid leukaemia with a t(9;22) (p24;q11.2) leading to BCR-JAK2 fusion.

Authors:  Steven W Lane; David J Fairbairn; Catherine McCarthy; Adayapalam Nandini; Joanna Perry-Keene; Glen A Kennedy
Journal:  Br J Haematol       Date:  2008-06-05       Impact factor: 6.998

9.  A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia.

Authors:  Gabriella Cirmena; Stefania Aliano; Giuseppina Fugazza; Roberto Bruzzone; Anna Garuti; Renata Bocciardi; Andrea Bacigalupo; Roberto Ravazzolo; Alberto Ballestrero; Mario Sessarego
Journal:  Cancer Genet Cytogenet       Date:  2008-06

10.  Atypical chronic myeloid leukemia with t(9;22)(p24,11.2), a BCR-JAK2 fusion gene.

Authors:  Marcelo Bellesso; Rodrigo Santucci; Daniela Ferreira Dias; Renato Centrone; Renata Campos Elias
Journal:  Rev Bras Hematol Hemoter       Date:  2013
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  2 in total

1.  Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance.

Authors:  Justin Anthony Chen; Yanli Hou; Krishna M Roskin; Daniel A Arber; Charles D Bangs; Linda B Baughn; Athena M Cherry; Mark D Ewalt; Andrew Z Fire; Laure Fresard; Hutton M Kearney; Stephen B Montgomery; Robert S Ohgami; Kathryn E Pearce; Beth A Pitel; Jason D Merker; Jason Gotlib
Journal:  Blood Adv       Date:  2021-09-14

2.  Haemophagocytic syndrome triggered by acute lymphoblastic leukaemia with t(9;22)(p24; q11.2).

Authors:  Huiling Chen; Pengyun Zeng; Dekui Zhang
Journal:  J Int Med Res       Date:  2019-09-18       Impact factor: 1.671
  2 in total

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