Literature DB >> 28725653

CALR-positive myeloproliferative disorder in a patient with Ph-positive chronic myeloid leukemia in durable treatment-free remission: a case report.

Irene Dogliotti1, Carmen Fava1, Anna Serra1, Enrico Gottardi1, Filomena Daraio1, Francesca Carnuccio1, Emilia Giugliano1, Monica Bocchia2, Giuseppe Saglio1, Giovanna Rege-Cambrin1.   

Abstract

Current diagnostic criteria for Philadelphia-negative myeloproliferative neoplasia (MPN) have been redefined by the discovery of Janus kinase 2 (JAK2), myeloproliferative leukemia (MPL) and calreticulin (CALR) genetic alterations. Only few cases of coexistence of CALR-mutated MPN and Philadelphia-positive chronic myeloid leukemia (CML) have been described so far. Here we report the case of a patient with CML diagnosed in 2001, treated with imatinib and pegylated interferon (IFN) frontline. She reached complete molecular remission (CMR) and discontinued imatinib, maintaining treatment free remission. Due to persistent thrombocytosis, we repeated bone marrow (BM) analysis and diagnosed CARL-mutated essential thrombocythemia (ET). A CALR-positive clone was found to be present since 2001, and was unaffected by imatinib treatment, possibly representing a molecular abnormality arising at stem cell level.

Entities:  

Keywords:  Chronic myeloid leukemia (CML); calreticulin (CALR); essential thrombocythemia (ET); imatinib discontinuation; myeloproliferative neoplasia (MPN)

Year:  2017        PMID： 28725653      PMCID： PMC5503914          DOI： 10.21037/sci.2017.06.02

Source DB:  PubMed          Journal:  Stem Cell Investig        ISSN： 2306-9759


  24 in total

1.  A CALR mutation preceding BCR-ABL1 in an atypical myeloproliferative neoplasm.

Authors:  Xénia Cabagnols; Jean-Michel Cayuela; William Vainchenker
Journal:  N Engl J Med       Date:  2015-02-12       Impact factor: 91.245

2.  CALR-mutated essential thrombocythemia evolving to chronic myeloid leukemia with coexistent CALR mutation and BCR-ABL translocation.

Authors:  Irina Bonzheim; Barbara Mankel; Peter Klapthor; Janine Schmidt; Tanja Hinrichsen; Oliver Wachter; Falko Fend; Leticia Quintanilla-Martinez
Journal:  Blood       Date:  2015-04-02       Impact factor: 22.113

3.  Long-Term Follow-Up of the French Stop Imatinib (STIM1) Study in Patients With Chronic Myeloid Leukemia.

Authors:  Gabriel Etienne; Joëlle Guilhot; Delphine Rea; Françoise Rigal-Huguet; Franck Nicolini; Aude Charbonnier; Agnès Guerci-Bresler; Laurence Legros; Bruno Varet; Martine Gardembas; Viviane Dubruille; Michel Tulliez; Marie-Pierre Noel; Jean-Christophe Ianotto; Bruno Villemagne; Martin Carré; François Guilhot; Philippe Rousselot; François-Xavier Mahon
Journal:  J Clin Oncol       Date:  2016-10-31       Impact factor: 44.544

4.  Discontinuation of imatinib in patients with chronic myeloid leukaemia who have maintained complete molecular remission for at least 2 years: the prospective, multicentre Stop Imatinib (STIM) trial.

Authors:  François-Xavier Mahon; Delphine Réa; Joëlle Guilhot; François Guilhot; Françoise Huguet; Franck Nicolini; Laurence Legros; Aude Charbonnier; Agnès Guerci; Bruno Varet; Gabriel Etienne; Josy Reiffers; Philippe Rousselot
Journal:  Lancet Oncol       Date:  2010-10-19       Impact factor: 41.316

5.  Sensitive quantitation of minimal residual disease in chronic myeloid leukemia using nanofluidic digital polymerase chain reaction assay.

Authors:  Hyun-Gyung Goh; Min Lin; Takashi Fukushima; Giuseppe Saglio; Dongho Kim; Soo-Young Choi; Soo-Hyun Kim; Jeong Lee; Young-Seok Lee; Sang-Mi Oh; Dong-Wook Kim
Journal:  Leuk Lymphoma       Date:  2011-02-21

Review 6.  Elucidating critical mechanisms of deregulated stem cell turnover in the chronic phase of chronic myeloid leukemia.

Authors:  T L Holyoake; X Jiang; M W Drummond; A C Eaves; C J Eaves
Journal:  Leukemia       Date:  2002-04       Impact factor: 11.528

7.  Frequency and molecular characteristics of calreticulin gene (CALR) mutations in patients with JAK2 -negative myeloproliferative neoplasms.

Authors:  Marzena Wojtaszewska; Małgorzata Iwoła; Krzysztof Lewandowski
Journal:  Acta Haematol       Date:  2014-10-16       Impact factor: 2.195

8.  Somatic mutations of calreticulin in myeloproliferative neoplasms.

Authors:  Thorsten Klampfl; Heinz Gisslinger; Ashot S Harutyunyan; Harini Nivarthi; Elisa Rumi; Jelena D Milosevic; Nicole C C Them; Tiina Berg; Bettina Gisslinger; Daniela Pietra; Doris Chen; Gregory I Vladimer; Klaudia Bagienski; Chiara Milanesi; Ilaria Carola Casetti; Emanuela Sant'Antonio; Virginia Ferretti; Chiara Elena; Fiorella Schischlik; Ciara Cleary; Melanie Six; Martin Schalling; Andreas Schönegger; Christoph Bock; Luca Malcovati; Cristiana Pascutto; Giulio Superti-Furga; Mario Cazzola; Robert Kralovics
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245

9.  Sensitive Replicate Real-Time Quantitative PCR of BCR-ABL Shows Deep Molecular Responses in Long-Term Post-Allogeneic Stem Cell Transplantation Chronic Myeloid Leukemia Patients.

Authors:  Maya Koren-Michowitz; Avichai Shimoni; Filomena Daraio; Francesca Crasto; Roberta Lorenzatti; Yulia Volchek; Ninette Amariglio; Enrico Gottardi; Giuseppe Saglio; Arnon Nagler
Journal:  Biol Blood Marrow Transplant       Date:  2015-07-04       Impact factor: 5.742

10.  Lineage involvement of stem cells bearing the philadelphia chromosome in chronic myeloid leukemia in the chronic phase as shown by a combination of fluorescence-activated cell sorting and fluorescence in situ hybridization.

Authors:  N Takahashi; I Miura; K Saitoh; A B Miura
Journal:  Blood       Date:  1998-12-15       Impact factor: 22.113
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  4 in total

1.  Imatinib Treatment of Chronic Myeloid Leukemia Reveals a Preexisting CALR-mutated Essential Thrombocythemia.

Authors:  Anaïse Blouet; Marie-Christine Rousselet; Yannick Le Bris; Bénédicte Ribourtout; Anne Bouvier; Laurane Cottin; Rébecca Jouanneau-Courville; Odile Blanchet; Valérie Ugo; Damien Luque Paz
Journal:  Hemasphere       Date:  2018-02-05

Review 2.  Atypical myeloproliferative neoplasm with concurrent BCR-ABL1 fusion and CALR mutation: A case report and literature review.

Authors:  Chunshui Liu; Ruiping Hu; Zhonghua Du; Manuel Abecasis; Cong Wang
Journal:  Medicine (Baltimore)       Date:  2020-01       Impact factor: 1.889

3.  Concurrent chronic myeloid leukemia and CALR-mutated myeloproliferative neoplasm.

Authors:  Stephen E Langabeer
Journal:  EXCLI J       Date:  2020-01-08       Impact factor: 4.068

Review 4.  Philadelphia+ Chronic Myeloid Leukemia with CALR Mutation: A Case Report and Literature Review.

Authors:  Seug Yun Yoon; Sun Young Jeong; Changgon Kim; Min-Young Lee; Jieun Kim; Kyoung-Ha Kim; Namsu Lee; Jong-Ho Won
Journal:  Cancer Res Treat       Date:  2020-01-15       Impact factor: 4.679
  4 in total

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