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myeloproliferative chronic neoplasm

Najmiatul Masykura, Ummu Habibah, Siti Fatimah Selasih, Soegiarto Gani, Cosphiadi Irawan, Sugiyono Somoastro, Ahmad Rusdan Handoyo Utomo
BACKGROUND: Defining the presence of BCR-ABL transcript in suspected myeloproliferative neoplasm is essential in establishing chronic myeloid leukemia. In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In certain cases of thrombocythemia, simultaneous upfront testing of both BCR-ABL and JAK2 may be desirable. We wanted to test the feasibility of multiplex detection of BCR-ABL transcript variants and JAK2 V617F mutation simultaneously using the reverse transcriptase polymerase chain reaction (RT-PCR)-based reverse dot-blot hybridization (RDB) method...
January 19, 2019: Clinical Lymphoma, Myeloma & Leukemia
Nobuhiko Harada, Atsushi Hasegawa, Ikuo Hirano, Masayuki Yamamoto, Ritsuko Shimizu
The transcription factor GATA2 regulates normal hematopoiesis, particularly in stem cell maintenance and myeloid differentiation. Various heteroallelic GATA2 gene mutations are associated with a variety of hematological neoplasms, including myelodysplastic syndromes and leukemias. Here, we report that impaired GATA2 expression induces myelodysplastic and myeloproliferative neoplasm development in elderly animals, and this neoplasm resembles chronic myelomonocytic leukemia in humans. GATA2 hypomorphic mutant (G2f GN / fGN ) mice that were generated by the germline insertion of a neo-cassette into the Gata2 gene locus avoided the early embryonic lethality observed in Gata2-null mice...
February 2, 2019: Cancer Science
Hiroaki Tanaka, Mizuki Yano, Chihiro Kuwabara, Ayaka Kume, Yuri Tamura, Miki Murakami, Ryo Shimizu, Haruhisa Saito, Yoshio Suzuki
Hemoptysis is occasionally experienced in patients with hematological malignancies who have respiratory tract infection and severe thrombocytopenia. Thrombocytopenia due to hematological disease is one cause of hemoptysis. Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic malignancy characterized by both a myeloproliferative neoplasm and a myelodysplastic syndrome. This malignancy often infiltrates various extramedullary organs and has a poor prognosis. An 84-year-old Japanese man with CMML was suffered from hemoptysis and dyspnea...
February 2019: Journal of Clinical Medicine Research
Noriyoshi Iriyama, Hiromichi Takahashi, Hiromu Naruse, Katsuhiro Miura, Yoshihito Uchino, Masaru Nakagawa, Kazuhide Iizuka, Takashi Hamada, Yoshihiro Hatta, Tomohiro Nakayama, Masami Takei
BACKGROUND: Platelet-derived growth factor receptor beta (PDGFRB) rearrangement has been reported in a number of patients with chronic eosinophilic leukemia (CEL), B-acute lymphoblastic leukemia, myeloproliferative neoplasms, and juvenile myelomonocytic leukemia. Here, we report a case of CEL carrying a novel fusion gene involving PDGFRB and GRIP and coiled-coil domain containing 2 (GCC2). PATIENT AND METHODS: A 54-year-old man presenting with a cough and dyspnea was diagnosed with acute eosinophilic pneumonia...
January 29, 2019: Molecular Genetics & Genomic Medicine
Vincent Louie Mendiola, You-Wen Qian, Bagi Jana
Background: Chronic neutrophilic leukemia (CNL) is an extremely rare myeloproliferative neoplasm (MPN). Due to the difficulty in its diagnosis, the diagnostic criterion was just recently revised in 2016. CNL is defined as: A clonal disorder with sustained primary neutrophilia, with normal neutrophil maturation, that does not meet other MPN criteria, as well as no identifiable mutations of the PDGFRA, PDGFRB or FGFR1 or PCM1-JAK2 genes, and, either, the presence of a CSF3R mutation, or if absent, the presence of sustained neutrophilia (> 3 months), splenomegaly and no other identifiable cause of reactive neutrophilia including the absence of a plasma cell neoplasm, or, if present, demonstration of myeloid cell clonality by cytogenetics...
September 2018: Case Reports in Oncology
Kai Wille, Parvis Sadjadian, Martin Griesshammer
Due to its rare incidence, erythrocytosis frequently represents a challenge for the treating doctors. The erythropoiesis (= production of erythrocytes) is located in the bone marrow, and the hormone erythropoietin (EPO) takes control in its regulation. Therefore, measurement of EPO in serum is one of the main diagnostic steps. In erythrocytosis, congenital causes have to be distinguished from acquired ones. Furthermore, there are primary and secondary forms. Congenital causes of erythrocytoses occur very infrequently, are mainly diagnosed in young age and should be treated in specialized centers...
January 2019: Deutsche Medizinische Wochenschrift
Charlotte M Niemeyer, Christian Flotho
Juvenile myelomonocytic leukemia (JMML) is a unique clonal hematopoietic disorder of early childhood. It is classified as an overlap myeloproliferative/myelodysplastic neoplasm by the World Health Organization (WHO) and shares some features with chronic myelomonocytic leukemia in adults. JMML pathobiology is characterized by constitutive activation of the Ras signal transduction pathway. About 90% of patients harbor molecular alterations in one of five genes ( PTPN11 , NRAS , KRAS , NF1 or CBL ) which define genetically and clinically distinct subtypes...
January 22, 2019: Blood
Ali G Turhan, A Foudi, J W Hwang, C Desterke, F Griscelli, A Bennaceur-Griscelli
Over the last decade, the possibility of reprogramming malignant cells to a pluripotent state has been achieved in several hematological malignancies, including myeloproliferative neoplasms, myelodysplastic syndromes, and chronic myeloid leukemia (CML). It has been shown that it is readily possible to generate induced pluripotent stem cells (iPSCs) from several types of primary CML cells and to generate progenitors and differentiated cells with variable efficiency. Although these experiments have brought some new insights in the understanding of CML pathophysiology, the ultimate goal of generating induced leukemic stem cells (LSCs) with long-term multilineage potential has not yet been demonstrated...
January 16, 2019: Experimental Hematology
Morten O Holmström, Shamaila M Ahmad, Uffe Klausen, Simone K Bendtsen, Evelina Martinenaite, Caroline H Riley, Inge M Svane, Lasse Kjær, Vibe Skov, Christina Ellervik, Niels Pallisgaard, Hans C Hasselbalch, Mads H Andersen
Mutations in exon 9 of the calreticulin gene (CALR) frequently occur in patients with chronic myeloproliferative neoplasms (MPN). Patients exhibit spontaneous cellular immune responses to epitopes derived from the mutant CALR C-terminus, and CALR-mutant-specific T cells recognize autologous CALR-mutant malignant cells. This study investigated whether CALR-mutant-specific T cells occur naturally in CALRwt MPN-patients and in healthy individuals. Specific immune responses against epitopes in the mutant CALR peptide sequence were detected in both CALRwt MPN-patients and in healthy individuals...
January 17, 2019: Blood Cancer Journal
Hew Yeng Lai, Stefan A Brooks, Brianna M Craver, Sarah J Morse, Thanh Kim Nguyen, Nahideh Haghighi, Michael R Garbati, Angela G Fleischman
Patients with myeloproliferative neoplasms (MPN) have high levels of inflammatory cytokines, some of which drive many of the debilitating constitutional symptoms associated with the disease and may also promote expansion of the neoplastic clone. We report here that monocytes from patients with MPN have defective negative regulation of Toll-like receptor (TLR) signaling that leads to unrestrained production of the inflammatory cytokine tumor necrosis factor α (TNF-α) after TLR activation. Specifically, monocytes of patients with MPN are insensitive to the anti-inflammatory cytokine interleukin 10 (IL-10) that negatively regulates TLR-induced TNF-α production...
January 22, 2019: Blood Advances
Manjari Kishore, Manju Kaushal, Sadhna Marwah, Megha Sharma, Nishi Sharma, Vishakha Mittal
Extramedullary hematopoeisis (EMH), also known as myeloid metaplasia can be seen in association with various hematological disorders. The common sites of EMH are liver, spleen and lymph nodes; but it can occur in almost any organ and in numerous locations. Involvement of the thyroid gland with EMH has rarely been reported. We present a case of EMH in the thyroid gland in an adult female diagnosed on fine-needle aspiration cytology (FNAC) which further helped in revealing an underlying myeloproliferative neoplasm; chronic myeloid leukemia (CML)...
January 15, 2019: Diagnostic Cytopathology
Muhammad Faisal, Helge Stark, Guntram Büsche, Jerome Schlue, Kristin Teiken, Hans H Kreipe, Ulrich Lehmann, Stephan Bartels
Atypical chronic myeloid leukemia (aCML) and chronic myelomonocytic leukemia (CMML) represent two histologically and clinically overlapping myelodysplastic/myeloproliferative neoplasms. Also the mutational landscapes of both entities show congruencies. We analyzed and compared an aCML cohort (n = 26) and a CMML cohort (n = 59) by next-generation sequencing of 25 genes and by an nCounter approach for differential expression in 107 genes. Significant differences were found with regard to the mutation frequency of TET2, SETBP1, and CSF3R...
January 11, 2019: Cancer Medicine
Federico Monaco, Bart L Scott, Thomas R Chauncey, Finn B Petersen, Barry E Storer, Frederic Baron, Mary E Flowers, H Joachim Deeg, David G Maloney, Rainer Storb, Brenda M Sandmaier
A nonmyeloablative regimen of fludarabine and 200 cGy total body irradiation combined with post-grafting immunosuppression with mycophenolate mofetil and a calcineurin inhibitor facilitates allogeneic hematopoietic cell transplantation from HLA-matched related or unrelated donors in older patients and/or those with comorbidities. However, outcomes of prior studies have been disappointing in patients with myelodysplastic syndromes or myeloproliferative neoplasms due to high incidences of progression or graft failure (together termed hematopoietic cell transplantation-failure)...
January 10, 2019: Haematologica
Raquel Almeida-Dias, Marta Garrote, Joan Cid, Maria-Jesús Mustieles, Cristina Alba, Miquel Lozano
Essential thrombocytosis (ET) is a chronic myeloproliferative neoplasm characterized by the presence of thrombocytosis and it can be complicated by thrombotic and/or hemorrhagic events. Treatment options include low-dose aspirin and cytoreductive agents such as hydroxyurea. In cases of extreme thrombocytosis, therapeutic thrombocytapheresis can be a useful procedure. We present a case of a 61-year-old-man previously diagnosed with CALR-mutated ET, who develop acute myeloid leukemia. When recovering after induction chemotherapy, he developed an extreme thrombocytosis up to 2337 × 109 /L regardless hydroxyurea was started...
January 9, 2019: Journal of Clinical Apheresis
Leonardo Boiocchi, Robert P Hasserjian, Olga Pozdnyakova, Waihay J Wong, Jochen K Lennerz, Long Phi Le, Dora Dias-Santagata, Anthony J Iafrate, Gabriela S Hobbs, Valentina Nardi
The introduction of next-generation sequencing has broadened the genetic landscape of myeloproliferative neoplasms (MPNs) beyond JAK2, MPL and CALR. However, the biological role and clinical impact of most other mutations is not well defined. We interrogated 101 genes in 143 BCR-ABL1-negative MPNs in chronic phase from two large institutions. We detected SF3B1 mutations in 15 cases (10%) and set to investigate the clinical, morphologic and molecular features of SF3B1 mutated (SF3B1+) MPNs in comparison to SF3B1 wild-type (SF3B1-) cases and to identify distinctive features with myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), which can show partial clinical and morphological overlap with MPNs...
December 27, 2018: Human Pathology
Petr Dulíček
Polycythemia vera is a chronic myeloproliferative neoplasm characterized by hematopoietic stem cell-derived clonal myeloproliferation resulting in erythrocytosis, leukocytosis and thrombocytosis. Survival is reduced compared with general population. Main reasons of death include thrombohemorrhagic complications, fibrotic progression and leuk-aemic transformation. Presence of Janus kinase (JAK2) gene mutations is a diagnostic marker and standard dia-gnostic criterion. World Health Organization 2016 diagnostic criteria focusing on hemoglobin levels, hematocrit, red cell mass and bone marrow morphology are mandatory...
2018: Vnitr̆ní Lékar̆ství
Natalie Galanina, Rafael Bejar, Michael Choi, Aaron Goodman, Matthew Wieduwilt, Carolyn Mulroney, Lisa Kim, Huwate Yeerna, Pablo Tamayo, Jo-Anne Vergilio, Tariq I Mughal, Vincent Miller, Catriona Jamieson, Razelle Kurzrock
Background : The translation of genomic discoveries to the clinic is the cornerstone of precision medicine. However, incorporating next generation sequencing (NGS) of hematologic malignancies into clinical management remains limited. Methods : We describe 235 patients who underwent integrated NGS profiling (406 genes) and analyze the alterations and their potential actionability. Results : Overall, 227 patients (96.5%) had adequate tissue. Most common diagnoses included myelodysplastic syndrome (22.9%), chronic lymphocytic leukemia (17...
December 21, 2018: Cancers
Sangeetha Venugopal, John Mascarenhas
Chronic neutrophilic leukemia (CNL) is a BCR-ABL1-negative myeloproliferative neoplasm with notably dismal survival. The current 2016 World Health Organization classification of myeloid neoplasms enables clinicians to unequivocally differentiate CNL from its comparable myelodysplastic/myeloproliferative neoplasm overlap syndromes. Additionally, the gradual emergence of next-generation sequencing has progressively expanded our evolving understanding of the molecular pathogenesis of CNL and its therapeutic potential...
November 29, 2018: Clinical Lymphoma, Myeloma & Leukemia
Guilin Tang, Shimin Hu, Sa A Wang, Wei Xie, Pei Lin, Jie Xu, Gokce Toruner, Ming Zhao, Jun Gu, Madison Doty, Shaoying Li, L Jeffrey Medeiros, Zhenya Tang
t(3;8)(q26.2;q24) is a rare recurrent cytogenetic abnormality that is associated with myeloid neoplasms. We report 20 patients with t(3;8)(q26.2,q24): eight had therapy-related acute myeloid leukemia (AML), three therapy-related myelodysplastic syndrome, four blast phase of chronic myeloid leukemia, one relapsed AML, one AML transformed from chronic myelomonocytic leukemia, one blast phase of an unclassifiable myeloproliferative neoplasm, one de novo myelodysplastic syndrome, and one de novo AML. Nineteen patients presented with cytopenia...
December 18, 2018: Journal of Molecular Diagnostics: JMD
Gabriel C Caponetti, Adam Bagg
Myeloproliferative neoplasms that include the specific entities of chronic myeloid leukemia, chronic neutrophilic leukemia, polycythemia vera, essential thrombocythemia, and primary myelofibrosis are characterized by the clonal expansion of hematopoietic precursor cells and consequent neoplastic production of mature cells of myeloid, erythroid, and/or megakaryocytic lineage. Genetic studies, encompassing both cytogenetic and molecular testing, play a central and ever increasing role in the assessment of these neoplasms and are the focus of this review...
January 2019: Seminars in Hematology
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