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myeloproliferative syndromes

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https://www.readbyqxmd.com/read/29670795/pulmonary-vasculitis-and-a-horseshoe-kidney-in-noonan-syndrome
#1
Surasak Puvabanditsin, Rosanna Abellar, Adaora Madubuko, Rajeev Mehta, Lauren Walzer
We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11 . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29660912/increased-plasma-viscosity-in-plasma-cell-dyscrasia-and-whole-blood-viscosity-in-polycythemia-vera
#2
Dong Woo Shin, Ja-Yoon Gu, Jun Sik Kim, Jae-Seol Jung, Dong-Yeop Shin, Youngil Koh, Inho Kim, Hyun Kyung Kim
BACKGROUND: Although hyperviscosity syndrome in plasma cell dyscrasia (PCD) and thrombosis in myeloproliferative neoplasm (MPN) are major causes of morbidity and mortality, blood viscosity measurements are often underutilized. OBJECTIVE: This study aimed to characterize whether whole blood viscosity (WBV) or plasma viscosity (PV) could be predictive of hyperviscosity syndrome in PCD and could be elevated in subgroups of MPN. METHODS: A total of 75 patients with hematologic diseases: PCD (n = 26), MPN (n = 25) including polycythemia vera (P...
April 13, 2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29614500/precursor-t-lymphoblastic-lymphoma-associated-with-t-8-9-p11-2-q33-a-case-report-and-review-of-the-literature
#3
Hui Lv, Shaoyan Hu, Jun Lu, Qin Zhai, Zong Zhai, Zhizhuo Du, Yina Sun, Jie Li, Hailong He, Yi Wang
The 8p11 myeloproliferative syndrome (EMS) is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) tyrosine kinase gene on chromosome 8p11-12. A new case of a 9-year-old boy with leukocytosis, eosinophilia, and general lymphadenopathy is reported in this study. Bone marrow examination showed eosinophilic hyperplasia, with blast cells amounting to 6-7%. Karyotyping revealed cytogenetic abnormalities, including t(8;9)(p11.2;q3?3). Fluorescence in situ hybridization for the FGFR1 gene rearrangement yielded positive results...
April 4, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29596070/chronic-myelomonocytic-leukemia-with-fibrosis-is-a-distinct-disease-subset-with-myeloproliferative-features-and-frequent-jak2-p-v617f-mutations
#4
Gur Deniz, Sanam Loghavi, Guillermo Garcia-Manero, Mark Routbort, Rashmi Kanagal-Shamanna, Andres Quesada, Haitham Khogeer, Sherry Pierce, L Jeffrey Medeiros, Hagop Kantarjian, Joseph D Khoury
A subset of patients with chronic myelomonocytic leukemia (CMML) presents with significance myelofibrosis. In myelodysplastic syndromes, significant myelofibrosis has been associated with adverse outcomes and p53 dysregulation. However, in CMML the clinical and molecular correlates of significant myelofibrosis at presentation remain poorly understood. From a cohort of 651 CMML patients, we identified retrospectively 20 (3.1%) cases with moderate to severe reticulin fibrosis (CMML-F) detected at diagnosis, and we compared them to CMML patients without fibrosis (n=631) seen during the same period...
March 28, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29592892/gene-dosage-effect-of-cux1-in-a-murine-model-disrupts-hsc-homeostasis-and-controls-the-severity-and-mortality-of-mds
#5
Ningfei An, Saira Khan, Molly K Imgruet, Sandeep K Gurbuxani, Stephanie N Konecki, Michael R Burgess, Megan E McNerney
Monosomy 7 (-7) and del(7q) are high-risk cytogenetic abnormalities common in myeloid malignancies. We previously reported that CUX1 , a homeodomain-containing transcription factor encoded on 7q22, is frequently inactivated in myeloid neoplasms, and CUX1 myeloid tumor suppressor activity is conserved from humans to Drosophila CUX1 inactivating mutations are recurrent in clonal hematopoiesis of indeterminate potential (CHIP) as well as myeloid malignancies, in which they independently carry a poor prognosis...
March 28, 2018: Blood
https://www.readbyqxmd.com/read/29562455/-clinical-analysis-of-the-therapeutic-effect-of-allogeneic-hematopoietic-stem-cell-transplantation-in-10-cases-of-childhood-myelodysplastic-syndrome-myeloproliferative-neoplasm
#6
Y N Sun, S Y Hu, H L He, Y Wang, J Li, J Lu, P F Xiao, Y H Yao, J J Fan, H Lyu, J Ling, D X Hu, D P Wu
No abstract text is available yet for this article.
February 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29545344/cytokines-increase-engraftment-of-human-acute-myeloid-leukemia-cells-in-immunocompromised-mice-but-not-engraftment-of-human-myelodysplastic-syndrome-cells
#7
Maria Krevvata, Xiaochuan Shan, Chenghui Zhou, Cedric Dos Santos, Georges Habineza Ndikuyeze, Anthony Secreto, Joshua Glover, Winifred Trotman, Gisela Brake-Silla, Selene Nunez-Cruz, Gerald Wertheim, Hyun-Jeong Ra, Elizabeth Griffiths, Charalampos Papachristou, Gwenn Danet-Desnoyers, Martin Carroll
Patient-derived xenotransplantation models of human myeloid diseases including acute myeloid leukemia, myelodysplastic syndromes and myeloproliferative neoplasms are essential for studying the disease's biology in pre-clinical studies. However, few studies have used these models for comparison purposes. Previous work has shown that acute myeloid leukemia blasts respond to human hematopoietic cytokines whereas myelodysplastic syndrome cells do not. We compared the engraftment of acute myeloid leukemia cells and myelodyplastic syndrome cells in NSG mice to NSG-S mice, which have transgene expression of human cytokines...
March 15, 2018: Haematologica
https://www.readbyqxmd.com/read/29532520/clinicopathological-characteristics-of-de-novo-and-secondary-myeloid-sarcoma-a-monocentric-retrospective-study
#8
Helena Claerhout, Sophie Van Aelst, Celine Melis, Thomas Tousseyn, Olivier Gheysens, Peter Vandenberghe, Daan Dierickx, Nancy Boeckx
OBJECTIVE: Diagnosing myeloid sarcoma remains challenging and we aimed to provide clinicopathological features to facilitate diagnosis. METHOD: Clinicopathological data from 41 patients with de novo and 31 with secondary myeloid sarcoma were reviewed. RESULTS: Most de novo cases presented with isolated myeloid sarcoma (n=19) or myeloid sarcoma with concurrent acute myeloid leukemia (n=15). Most secondary cases presented after acute myeloid leukemia (n=11), myeloproliferative neoplasm (n=9) or myelodysplastic syndrome (n=8)...
March 12, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29515972/genetic-alterations-in-essential-thrombocythemia-progression-to-acute-myeloid-leukemia-a-case-series-and-review-of-the-literature
#9
Jackline P Ayres-Silva, Martin H Bonamino, Maria E Gouveia, Barbara C R Monte-Mor, Diego F Coutinho, Adelmo H Daumas, Cristiana Solza, Esteban Braggio, Ilana Renault Zalcberg
The genetic events associated with transformation of myeloproliferative neoplasms (MPNs) to secondary acute myeloid leukemia (sAML), particularly in the subgroup of essential thrombocythemia (ET) patients, remain incompletely understood. Deep studies using high-throughput methods might lead to a better understanding of genetic landscape of ET patients who transformed to sAML. We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29515765/impact-of-the-number-of-mutations-in-survival-and-response-outcomes-to-hypomethylating-agents-in-patients-with-myelodysplastic-syndromes-or-myelodysplastic-myeloproliferative-neoplasms
#10
Guillermo Montalban-Bravo, Koichi Takahashi, Keyur Patel, Feng Wang, Song Xingzhi, Graciela M Nogueras, Xuelin Huang, Ana Alfonso Pierola, Elias Jabbour, Simona Colla, Irene Gañan-Gomez, Gautham Borthakur, Naval Daver, Zeev Estrov, Tapan Kadia, Naveen Pemmaraju, Farhad Ravandi, Carlos Bueso-Ramos, Ali Chamseddine, Marina Konopleva, Jianhua Zhang, Hagop Kantarjian, Andrew Futreal, Guillermo Garcia-Manero
The prognostic and predictive value of sequencing analysis in myelodysplastic syndromes (MDS) has not been fully integrated into clinical practice. We performed whole exome sequencing (WES) of bone marrow samples from 83 patients with MDS and 31 with MDS/MPN identifying 218 driver mutations in 31 genes in 98 (86%) patients. A total of 65 (57%) patients received therapy with hypomethylating agents. By univariate analysis, mutations in BCOR, STAG2, TP53 and SF3B1 significantly influenced survival. Increased number of mutations (≥ 3), but not clonal heterogeneity, predicted for shorter survival and LFS...
February 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29512182/atypical-chronic-myeloid-leukaemia-a-case-of-an-orphan-disease-a-multicenter-report-by-the-polish-adult-leukemia-group
#11
Joanna Drozd-Sokołowska, Krzysztof Mądry, Anna Waszczuk-Gajda, Przemysław Biecek, Paweł Szwedyk, Katarzyna Budziszewska, Magdalena Raźny, Magdalena Dutka, Agata Obara, Ewa Wasilewska, Krzysztof Lewandowski, Agnieszka Piekarska, Grażyna Bober, Helena Krzemień, Beata Stella-Hołowiecka, Katarzyna Kapelko-Słowik, Waldemar Sawicki, Małgorzata Paszkowska-Kowalewska, Rafał Machowicz, Jadwiga Dwilewicz-Trojaczek
Atypical chronic myeloid leukaemia (aCML) belongs to myelodysplastic/myeloproliferative neoplasms. Because of its rarity and changing diagnostic criteria throughout subsequent classifications, data on aCML are very scarce. Therefore, we at the Polish Adult Leukemia Group performed a nationwide survey on aCML. Eleven biggest Polish centres participated in the study. Altogether, 45 patients were reported, among whom only 18 patients (40%) fulfilled diagnostic criteria. Among misdiagnosed patients, myelodysplastic/myeloproliferative syndrome unclassifiable and chronic myelomonocytic leukaemia were the most frequent diagnoses...
March 7, 2018: Hematological Oncology
https://www.readbyqxmd.com/read/29507898/role-of-monocyte-chemoattractant-protein-1-in-liver-fibrosis-with-transient-myeloproliferative-disorder-in-down-syndrome
#12
Kenichiro Kobayashi, Takako Yoshioka, Jun Miyauchi, Atsuko Nakazawa, Nobutaka Kiyokawa, Toshiro Maihara, Ikuya Usami
Liver fibrosis is a common complication associated with transient myeloproliferative disorder (TMD) in Down syndrome (DS). The exact molecular pathogenesis that regulates disease progression is largely unknown. We recently found serum and/or urinary monocyte chemoattractant protein-1 (MCP-1) as a novel biomarker of liver fibrosis. This study was an in vitro analysis to investigate the fibrogenic activity of MCP-1 using the collagen-producing LX-2 human hepatic stellate cell line. We also examined the fibrogenic activity of serum from a male neonate with DS in whom late-onset liver fibrosis developed even after the resolution of TMD...
March 2018: Hepatology Communications
https://www.readbyqxmd.com/read/29496305/juvenile-myelomonocytic-leukemia-with-t-3-5-q25-q35-auer-rods-and-marked-myelodysplasia
#13
Weijie Li, Linda D Cooley, Keith August
Juvenile myelomonocytic leukemia (JMML) is a rare aggressive childhood leukemia characterized by an excess proliferation of cells of granulocytic and monocytic lineages. The WHO classifies JMML with the myelodysplastic/myeloproliferative neoplasms. Myelodysplasia in JMML is usually minimal to mild. Auer rods have never been reported in JMML. We present a 2-year-old boy with splenomegaly, leukocytosis, thrombocytopenia, anemia, and excess myeloblasts with easily seen Auer rods, and marked dysgranulopoiesis and dyserythropoiesis...
December 5, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29492207/evaluation-of-vascular-events-in-patients-with-myeloproliferative-syndromes-and-mutations-of-either-the-januskinase-2-or-calreticulin-gene-at-the-university-hospital-krems-from-2008-to-2015
#14
Sarah Hintermair, Elisabeth Zwickl-Traxler, Martin Pecherstorfer, Josef Singer
Myeloproliferative neoplasms (MPN), classified as polycythemia vera (PV), essential thrombocytosis (ET) and myelofibrosis (MF) are stem-cell derived disorders. Mutations in either the januskinase-2 (JAK-2) or the calreticulin (CALR) gene are characteristic for MPN and may result in enhanced proliferation of red blood cells, white blood cells and platelets, and thus increase the risk for vascular events. This study is a retrospective and descriptive analysis of records of patients, who underwent treatment for myeloproliferative syndromes at the Department of Hemato-Oncology of the University hospital Krems from 2008 to the end of 2015...
February 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29487753/acquired-elliptocytosis-as-a-manifestation-of-myelodysplastic-syndrome-associated-with-deletion-of-chromosome-20q
#15
Sukesh Manthri, Naresh K Vasireddy, Sindhura Bandaru, Swati Pathak
Elliptocytosis is commonly seen as a hereditary condition. We present a case of myelodysplastic syndrome (MDS) del(q20) variant with concomitant acquired elliptocytosis. A 73-year-old male with a history of prostate cancer presented to the hospital for evaluation of bleeding gums. Initial evaluation showed Hgb of 9.3 gm/dl, hematocrit of 28%, platelet count of 36,000 K/cmm, and WBC of 1.8 K/cmm with an ANC of 0.8 K/cmm. A slightly elevated bilirubin of 1.2 mg/dl spurred a hemolytic workup. Peripheral smear showed frequent elliptocytes, teardrop cells, schistocytes, and occasional spherocytes...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29486661/clinical-outcomes-of-myeloid-lymphoid-neoplasms-with-fibroblast-growth-factor-receptor-1-fgfr1-rearrangement
#16
Kento Umino, Shin-Ichiro Fujiwara, Takashi Ikeda, Yumiko Toda, Shoko Ito, Kiyomi Mashima, Daisuke Minakata, Hirofumi Nakano, Ryoko Yamasaki, Yasufumi Kawasaki, Miyuki Sugimoto, Chihiro Yamamoto, Masahiro Ashizawa, Kaoru Hatano, Kazuya Sato, Iekuni Oh, Ken Ohmine, Kazuo Muroi, Yoshinobu Kanda
OBJECTIVE: Myeloid/lymphoid neoplasms with fibroblast growth factor receptor-1 (FGFR1) rearrangement are hematopoietic stem cell disorders with a poor prognosis, but no established standard therapy. METHODS: We experienced a patient with T-lymphoblastic lymphoma (LBL) associated with FGFR1 rearrangement who underwent cord blood transplantation, but died of pulmonary complication. We collected the clinical data of patients with FGFR1 rearrangement from the medical literature and analyzed 45 patients, including our patient...
February 28, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29468060/identification-of-i-x-p10-as-the-sole-molecular-abnormality-in-atypical-chronic-myeloid-leukemia-evolved-into-acute-myeloid-leukemia
#17
Carmelo Gurnari, Paola Panetta, Emiliano Fabiani, Anna Maria Nardone, Diana Postorivo, Giulia Falconi, Luca Franceschini, Manuela Rizzo, Vito Mario Rapisarda, Eleonora De Bellis, Francesco Lo-Coco, Maria Teresa Voso
The World Health Organization classifies atypical chronic myeloid leukemia (aCML) as a myeloproliferative/myelodisplastic hematological disorder. The primary manifestations are leukocytosis with disgranulopoiesis, absence of basophilia and/or monocytosis, splenomegaly and absence of Philadelphia chromosome or BCR/ABL fusion. Overall 50-65% of patients demonstrate karyotypic abnormalities, although no specific cytogenetic alterations have been associated with this disease. X chromosome alterations have been rarely reported in myeloid malignancies...
March 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29435140/triplications-of-human-chromosome-21-orthologous-regions-in-mice-result-in-expansion-of-megakaryocyte-erythroid-progenitors-and-reduction-of-granulocyte-macrophage-progenitors
#18
Chunhong Liu, Tao Yu, Zhuo Xing, Xiaoling Jiang, Yichen Li, Annie Pao, Justin Mu, Paul K Wallace, George Stoica, Andrei V Bakin, Y Eugene Yu
Individuals with Down syndrome (DS) frequently have hematopoietic abnormalities, including transient myeloproliferative disorder and acute megakaryoblastic leukemia which are often accompanied by acquired GATA1 mutations that produce a truncated protein, GATA1s. The mouse has been used for modeling DS based on the syntenic conservation between human chromosome 21 (Hsa21) and three regions in the mouse genome located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. To assess the impact of the dosage increase of Hsa21 gene orthologs on the hematopoietic system, we characterized the related phenotype in the Dp(10)1Yey/+;Dp(16)1Yey/+;Dp(17)1Yey/+ model which carries duplications spanning the entire Hsa21 orthologous regions on Mmu10, Mmu16 and Mmu17, and the Dp(10)1Yey /+; Dp(16)1Yey /+; Dp(17)1Yey/+ ; Gata1 Yeym2 model which carries a Gata1s mutation we engineered...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29423961/pruritic-arthropod-bite-like-papules-in-t-cell-large-granular-lymphocytic-leukaemia-and-chronic-myelomonocytic-leukaemia
#19
D J Lewis, R N Miranda, C W Oh, T Hinojosa, L J Medeiros, J L Curry, M T Tetzlaff, C A Torres-Cabala, P Nagarajan, F Ravandi-Kashani, M Duvic
T-cell large granular lymphocytic leukaemia (T-LGLL) is a clinically indolent mature T-cell neoplasm characterized by a monoclonal population of CD3+ CD8+ cytotoxic T cells, which usually presents as neutropenia, anaemia and thrombocytopenia. Chronic myelomonocytic leukaemia (CMML) is a clonal haematopoietic disorder with features of both a myeloproliferative neoplasm and myelodysplastic syndrome (MDS). Patients with CMML exhibit a persistent peripheral blood monocytosis in addition to myelodysplastic features...
February 9, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29414400/primary-cutaneous-histiocytic-sarcoma-a-report-of-five-cases-with-primary-cutaneous-involvement-and-review-of-the-literature
#20
Cynthia M Magro, Najiyah Kazi, Aimee E Sisinger
INTRODUCTION: Histiocytic sarcoma is an extremely rare hematologic malignancy of histiocytic origin. Five cases of primary cutaneous histiocytic sarcoma are presented. MATERIALS AND METHODS: Cases of primary cutaneous histiocytic sarcoma were identified using a natural language search from the dermatopathology data base of Cornell University. RESULTS: There was a male predominance (4 males and 1 female) ranging in age from 33years to 92years (mean age of 73years); all presented with a solitary nodule which involved the head and neck area in four and thigh in one...
February 2018: Annals of Diagnostic Pathology
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