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https://www.readbyqxmd.com/read/28335073/clinical-characteristics-and-whole-exome-transcriptome-sequencing-of-coexisting-chronic-myeloid-leukemia-and-myelofibrosis
#1
Malathi Kandarpa, Yi-Mi Wu, Dan Robinson, Patrick William Burke, Arul M Chinnaiyan, Moshe Talpaz
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell (HSC) disorders that can be classified on the basis of genetic, clinical, phenotypic features. Genetic lesions such as JAK2 mutations and BCR-ABL translocation are often mutually exclusive in MPN patients and lead to essential thrombocythemia, polycythemia vera or myelofibrosis (ET/PV/MF) or chronic myeloid leukemia, respectively. Nevertheless, coexistence of these genetic aberrations in the same patient has been reported. Whether these aberrations occur in the same stem cell or a different cell is unclear, but an unstable genome in the HSCs seems to be the common antecedent...
March 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28332377/hb-heathrow-%C3%AE-103-g5-phe%C3%A2-leu-a-first-report-in-an-asian-patient-with-erythrocytosis
#2
Sang Yong Shin, Hyun Young Kim, Hee Jin Kim, Hoon Gu Kim
Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with isolated erythrocytosis. A 25-year-old man was referred to our hospital for evaluation of high Hb level (Hb 20.4 g/dL, hematocrit 58%, reticulocyte count 2.90%, white blood cell count 6.83×10⁹/L, and platelet count 195×10⁹/L). Bone marrow biopsy revealed normocellular marrow without myeloproliferative features. JAK2 (V617F, exon 12), CALR (exon 9), and MPL W515K/L mutations were not detected...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28318117/transcriptional-regulation-of-cpsq-mfpabc-and-mfpabc-by-calr%C3%A2-in-vibrio-parahaemolyticus
#3
He Gao, Lingyu Zhang, George Osei-Adjei, Wenhui Yang, Dongsheng Zhou, Xinxiang Huang, Huiying Yang, Zhe Yin, Yiquan Zhang
The cpsQ-mfpABC locus is transcribed as two operons, i.e., cpsQ-mfpABC and mfpABC, in Vibrio parahaemolyticus, and both of them are all required for biofilm formation. CalR belongs to the LysR-type transcriptional regulator family, and was originally identified as a repressor of the swarming motility and T3SS1 genes expression in V. parahaemolyticus. In the present work, a combination of qRT-PCR, primer extension, LacZ fusion expression, electrophoretic mobility shift assay, and DNase I footprinting assays were employed to elucidate the regulatory mechanisms of cpsQ-mfpABC and mfpABC by CalR...
March 20, 2017: MicrobiologyOpen
https://www.readbyqxmd.com/read/28314843/quantitative-proteome-heterogeneity-in-myeloproliferative-neoplasm-subtypes-and-association-with-jak2-mutation-status
#4
Nuria Socoro-Yuste, Cokic Vladan P, Julie Mondet, Isabelle Plo, Pascal Mossuz
Apart from well-known genetic abnormalities, several studies have reported variations in protein expression in Philadelphia negative (Ph-) Myeloproliferative Neoplasm (MPN) patients that could contribute towards their clinical phenotype. In this context, a quantitative mass spectrometry proteomics protocol was used to identify differences in the granulocyte proteome with the goal to characterize the pathogenic role of aberrant protein expression in MPNs. LC MS/MS (LTQ Orbitrap) coupled to iTRAQ labeling showed significant and quantitative differences in protein content among various MPN subtypes [polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF)], and according to the genetic status of JAK2 (JAK2V617F presence and JAK2V617F allele burden)...
March 17, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28302866/genomic-profiling-of-patient-derived-xenografts-for-lung-cancer-identifies-b2m-inactivation-impairing-immunorecognition
#5
Carolina Pereira, Pol Gimenez-Xavier, Eva Pros, Maria J Pajares, Massimo Moro, Antonio Gomez, Alejandro Navarro, Enric Condom, Sebastian Moran, Gonzalo Gomez-Lopez, Osvaldo Graña, Miriam Rubio-Camarillo, Alex Martinez-Martí, Jun Yokota, Julian Carretero, Jose M Galbis, Ernest Nadal, David Pisano, Gabriella Sozzi, Enriqueta Felip, Luis M Montuenga, Luca Roz, Alberto Villanueva, Montse Sanchez-Cespedes
Purpose: We aimed to maximize the performance of detecting genetic alterations in lung cancer using high-throughput sequencing for patient-derived xenografts (PDXs).Experimental Design: We undertook an integrated RNA and whole-exome sequencing of 14 PDXs. We focused on the genetic and functional analysis of β2-microglobulin (B2M), a component of the HLA class-I complex.Results: We identified alterations in genes involved in various functions, such as B2M involved in immunosurveillance. We extended the mutational analysis of B2M to about 230 lung cancers...
March 16, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28273188/-treatment-options-and-limitations-in-the-management-of-myelofibrosis
#6
Gábor Körösmezey, Gabriella Gyõri, Gábor Rudas, Hanna Eid, Zsolt Nagy, Judit Demeter
Primary myelofibrosis has the worst outcome among classical chronic myeloproliferative neoplasms. The past decade has brought numerous discoveries elucidating the role of proliferative mutations in disease pathogenesis. Mutations of the genes JAK2, MPL and CALR are present in about 90 percent of all primary myelofibrosis cases. The prognosis of myelofibrosis is considered heterogeneous, the expected survival of patients may range from one year to more than a decade based on several prognostic factors. Estimated survival can be assessed based on clinical prognostic scores...
March 8, 2017: Magyar Onkologia
https://www.readbyqxmd.com/read/28273187/-the-role-of-driver-and-subclonal-mutations-in-pathogenesis-of-primary-myelofibrosis
#7
Réka Mózes, Ambrus Gángó, Zsófia Boha, Judit Csomor, Csaba Bödör
Primary myelofibrosis (PMF) is a Philadelphia chromosome negative, clonal myeloproliferative neoplasm characterised by a progressive nature. Morphologically, the bone marrow biopsy shows features of abnormal proliferation of terminally differentiated megakaryocytes and subsequent bone marrow fibrosis. The molecular landscape of PMF includes phenotypic driver mutations (JAK2 V617F, CALR and MPL) which represent major diagnostic criteria, and subclonal mutations that also occur in several other myeloid diseases, but have a prognostic value in disease progression of MF...
March 8, 2017: Magyar Onkologia
https://www.readbyqxmd.com/read/28268179/vibrio-parahaemolyticus-calr-down-regulates-the-thermostable-direct-hemolysin-tdh-gene-transcription-and-thereby-inhibits-hemolytic-activity
#8
Yiquan Zhang, Ying Zhang, He Gao, Lingyu Zhang, Zhe Yin, Xinxiang Huang, Dongsheng Zhou, Huiying Yang, Wenhui Yang, Li Wang
TDH, encoded by tdh gene, is a major virulent determinant of V. parahaemolyticus that controls various biological activities, such as hemolytic activity, cytotoxicity, and enterotoxicity. The hemolytic activity on Wagatsuma agar ascribed to TDH is called Kanagawa phenomenon (KP). All KP positive strains contain tdh1 and tdh2 genes, but tdh2 is predominantly responsible for KP. CalR is a regulatory protein that was originally identified as a repressor of swarming motility and T3SS1 gene expression in V. parahaemolyticus...
May 20, 2017: Gene
https://www.readbyqxmd.com/read/28246554/splanchnic-vein-thrombosis-in-myeloproliferative-neoplasms-pathophysiology-and-molecular-mechanisms-of-disease
#9
REVIEW
Joan How, Amy Zhou, Stephen T Oh
Myeloproliferative neoplasms (MPNs) are the most common underlying prothrombotic disorder found in patients with splanchnic vein thrombosis (SVT). Clinical risk factors for MPN-associated SVTs include younger age, female sex, concomitant hypercoagulable disorders, and the JAK2 V617F mutation. These risk factors are distinct from those associated with arterial or deep venous thrombosis (DVT) in MPN patients, suggesting disparate disease mechanisms. The pathophysiology of SVT is thought to derive from local interactions between activated blood cells and the unique splanchnic endothelial environment...
March 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28245393/-mutation-of-calr-gene-in-patients-with-chronic-myeloproliferative-neoplasm-and-its-clinical-significance
#10
Qin Tang, Xiu-Wen Zhang, Lei Xia, Nai-Ke Jiang
OBJECTIVE: To analyze the CARL gene mutation in the patients with chronic myeloproliferative neoplasm(MPN) and to explore the clinical significance of CALR mutation. METHODS: The peripheral blood of patients was collected and the genomic DNA was exacted, the 9 exon of CALR gene and the fragment of human thrombopoetic receptor(MPL) gene were amplified by PCR, the mutation of CALR and MPL genes was detected by using the direct sequencing, the JAK2 V617F mutation was detected by using allele spicific PCR...
February 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28228104/driver-mutations-jak2v617f-mplw515l-k-or-calr-pentraxin-3-and-c-reactive-protein-in-essential-thrombocythemia-and-polycythemia-vera
#11
Federico Lussana, Alessandra Carobbio, Silvia Salmoiraghi, Paola Guglielmelli, Alessandro Maria Vannucchi, Barbara Bottazzi, Roberto Leone, Alberto Mantovani, Tiziano Barbui, Alessandro Rambaldi
BACKGROUND: The driver mutations JAK2V617F, MPLW515L/K and CALR influence disease phenotype of myeloproliferative neoplasms (MPNs) and might sustain a condition of chronic inflammation. Pentraxin 3 (PTX3) and high-sensitivity C-reactive protein (hs-CRP) are inflammatory biomarkers potentially useful for refining prognostic classification of MPNs. METHODS: We evaluated 305 with essential thrombocythemia (ET) and 172 polycythemia vera (PV) patients diagnosed according to the 2016 WHO criteria and with full molecular characterization for driver mutations...
February 22, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28219221/-the-clinical-characteristics-gene-mutations-and-prognosis-of-chronic-neutrophilic-leukemia
#12
Y J Cui, Q Jiang, J Q Liu, B Li, Z F Xu, T J Qin, Y Zhang, W Y Cai, H L Zhang, L W Fang, L J Pan, N B Hu, S Q Qu, Z J Xiao
Objective: To investigate the clinical manifestation, cytogenetics, gene mutations and prognostic factors of chronic neutrophilic leukemia (CNL) . Methods: 16 CNL cases, according to WHO (2016) -definition, were reviewed retrospectively. Identifications of the CSF3R, ASXL1, SETBP1, CALR and MPL mutations were performed by direct sequencing. JAK2 V617F mutation was detected by AS-PCR. Results: Of the 16 CNL patients, the median age was 64 (43-80) years with a male predominance of 75% (12/16) . The median hemoglobin was 114 (81-154) g/L, with median WBC of 41...
January 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28211153/the-prognostic-relevance-of-serum-lactate-dehydrogenase-and-mild-bone-marrow-reticulin-fibrosis-in-essential-thrombocythemia
#13
Mythri Mudireddy, Daniela Barraco, Curtis A Hanson, Animesh Pardanani, Naseema Gangat, Ayalew Tefferi
The 2016 World Health Organization (WHO) diagnostic criteria for myeloproliferative neoplasms (MPN) underscore the prognostically-relevant distinction between essential thrombocythemia (ET) and prefibrotic primary myelofibrosis (pre-PMF). In addition, leukocytosis has been identified as an important prognostic marker in otherwise WHO-defined ET. However, controversy remains regarding the objectivity of morphologic criteria in distinguishing ET from pre-PMF and the precise prognostic cutoff values for leukocytosis...
February 17, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28205126/estimation-of-diagnosis-and-prognosis-in-et-by-assessment-of-calr-and-jak2-v617f-mutations-and-laboratory-findings-a-meta-analysis
#14
REVIEW
N Saki, R Shirzad, F Rahim, A Saki Malehi
BACKGROUND: Essential thrombocythemia (ET) is a benign disease with slow progress in which thrombosis is a cause of mortality. JAK2(V617F) and calreticulin (CALR) are the most frequent mutations in this disease. In this systematic review and meta-analysis, we compared the prevalence of JAK2(V617F) and CALR mutations in ET and examined the incidence of thrombosis and other hematologic indices. METHODS: After choosing MeSH keywords, including essential thrombocythemia, JAK2(V617F), calreticulin, prognosis, and diagnosis, as well as searching Medline/PubMed and Scopus, 12 papers were selected...
February 15, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28185911/transcriptome-analysis-of-monozygotic-twin-brothers-with-childhood-primary-myelofibrosis
#15
Nan Ding, Zhaojun Zhang, Wenyu Yang, Lan Ren, Yingchi Zhang, Jingliao Zhang, Zhanqi Li, Peihong Zhang, Xiaofan Zhu, Xiaojuan Chen, Xiangdong Fang
Primary myelofibrosis (PMF) is a chronic myeloproliferative disorder in human bone marrow. Over 50% of patients with myelofibrosis have mutations in JAK2, MPL, or CALR. However, these mutations are rarely detected in children, suggesting a difference in the pathogenesis of childhood PMF. In this study, we investigated the response to drug treatment of a monozygotic twin pair with typical childhood PMF. The twin exhibited different clinical outcomes despite following the same treatment regimen. The transcriptomic profiles of patient samples after drug treatment (E2 and Y2) were significantly different between the twin pair, which is consistent with the observation that the drug treatment was effective only in the younger brother, despite the twin being genetically identical...
February 2017: Genomics, Proteomics & Bioinformatics
https://www.readbyqxmd.com/read/28168700/progenitor-genotyping-reveals-a-complex-clonal-architecture-in-a-subset-of-calr-mutated-myeloproliferative-neoplasms
#16
Sarah Martin, Casey M Wright, Linda M Scott
The identification of acquired CALR mutations in patients with essential thrombocythaemia (ET) or myelofibrosis (MF) has meant that disease-initiating mutations can now be detected in about 90% of all patients with a myeloproliferative neoplasm (MPN). Here, we show that only those CALR mutations that cause a +1 frameshift, thereby altering the carboxy-terminus of calreticulin, promote cytokine independence in vitro; in-frame deletions were not functional, and are unlikely to be the pathogenetic mutation underlying some MPN cases...
February 7, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28167129/jak-stat-signaling-in-the-therapeutic-landscape-of-myeloproliferative-neoplasms
#17
Jennifer M O'Sullivan, Claire N Harrison
Myeloproliferative neoplasms (MPN) are a group of disorders defined by clonal proliferation of mature myeloid cells with overlapping clinical features. The driver mutations of these disorders, namely JAK2 (Janus Kinase), MPL (Myeloproliferative Leukaemia Virus) and CALR (Calreticulin) upregulate JAK-STAT signaling with increase in downstream transcription and gene expression. Epigenetic mutations are prevalent in MPNs but their interplay with aberrant JAK-STAT signaling is not known. This understanding lead to development of first targeted treatment in MPN; ruxolitinib for primary myelofibrosis...
February 3, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28161773/clinicopathological-differences-exist-between-calr-and-jak2-mutated-myeloproliferative-neoplasms-despite-a-similar-molecular-landscape-data-from-targeted-next-generation-sequencing-in-the-diagnostic-laboratory
#18
Rishu Agarwal, Piers Blombery, Michelle McBean, Kate Jones, Andrew Fellowes, Ken Doig, Cecily Forsyth, David A Westerman
Mutations in CALR have recently been detected in JAK2-negative myeloproliferative neoplasms (MPNs) and are key pathological drivers in these diseases. CALR-mutated MPNs are shown to have numerous clinicopathological differences to JAK2-mutated MPNs. The basis of these differences is poorly understood. It is unknown whether these differences result directly from any differences in intracellular signalling abnormalities induced by JAK2/CALR mutations or whether they relate to other phenomena such as a differing spectrum of genetic lesions between the two groups...
February 4, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28159736/myeloproliferative-neoplasm-stem-cells
#19
Adam J Mead, Ann Mullally
Myeloproliferative neoplasms (MPN) arise in the hematopoietic stem cell (HSC) compartment as a result of the acquisition of somatic mutations in a single HSC that provide a selective advantage to mutant HSC over normal HSC and promote myeloid differentiation to engender a myeloproliferative phenotype. This population of somatically mutated HSC, which initiate and sustain MPN, are termed MPN stem cells. In greater than 95% of cases, mutations that drive the development of an MPN phenotype occur in a mutually exclusive manner in one of three genes: JAK2, CALR or MPL The thrombopoietin receptor, MPL is the key cytokine receptor in MPN development and these mutations all activate MPL-JAK-STAT signaling in MPN stem cells...
February 3, 2017: Blood
https://www.readbyqxmd.com/read/28143941/a-novel-molecular-assay-using-hybridisation-probes-and-melt-curve-analysis-for-calr-exon-9-mutation-detection-in-myeloproliferative-neoplasms
#20
Thomas Keaney, Louise O'Connor, Janusz Krawczyk, Moutaz A Abdelrahman, Amjad H Hayat, Margaret Murray, Michael O'Dwyer, Melanie Percy, Stehpen Langabeer, Karl Haslam, Barry Glynn, Ciara Mullen, Evelyn Keady, Sinéad Lahiff, Terry J Smith
AIMS: Somatic insertions/deletions in exon 9 of the calreticulin gene have been identified in patients with essential thrombocythemia and primary myelofibrosis. Over 55 mutations have been discovered, 80% of which consist of either type 1 52-bp deletion or type 2 5-bp insertion. Other mutations (types 3-5) in conjunction with types 1 and 2 account for >87% of identified mutations. The aim of this study was development of a rapid PCR-based assay using LightCycler Hybridisation Probes for the detection of type 1-5 CALR mutations...
January 31, 2017: Journal of Clinical Pathology
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