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Hypoplastic myelodysplastic syndrome

Vanessa Turinelli, Alessandra Gavazza
Objectives Cytological assessment of the bone marrow is an essential tool for understanding and investigating haematological abnormalities. Sometimes it represents the only way to reach a definitive diagnosis. The purpose of this study was to provide a general overview regarding the prevalence of feline bone marrow disorders encountered in a private European laboratory setting, to classify them and to assess the differential cell counts related to such disorders. Methods In total, 152 bone marrow samples were classified using cytological and numerical criteria...
February 1, 2018: Journal of Feline Medicine and Surgery
Judith C W Marsh, Fernanda Gutierrez-Rodrigues, James Cooper, Jie Jiang, Shreyans Gandhi, Sachiko Kajigaya, Xingmin Feng, Maria Del Pilar F Ibanez, Flávia S Donaires, João P Lopes da Silva, Zejuan Li, Soma Das, Maria Ibanez, Alexander E Smith, Nicholas Lea, Steven Best, Robin Ireland, Austin G Kulasekararaj, Donal P McLornan, Anthony Pagliuca, Isabelle Callebaut, Neal S Young, Rodrigo T Calado, Danielle M Townsley, Ghulam J Mufti
Biallelic germline mutations in RTEL1 (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. However, the role of RTEL1 mutations in other bone marrow failure (BMF) syndromes and myeloid neoplasms, and the contribution of monoallelic RTEL1 mutations to disease development are not well defined. We screened 516 patients for germline mutations in telomere-associated genes by next-generation sequencing in 2 independent cohorts; one constituting unselected patients with idiopathic BMF, unexplained cytopenia, or myeloid neoplasms (n = 457) and a second cohort comprising selected patients on the basis of the suspicion of constitutional/familial BMF (n = 59)...
January 9, 2018: Blood Advances
Daniela de Paula Borges, Antônio Wesley Araújo Dos Santos, Carlos Roberto Koscky Paier, Howard Lopes Ribeiro, Marília Braga Costa, Izabelle Rocha Farias, Roberta Taiane Germano de Oliveira, Ivo Gabriel da Frota França, Gabrielle Melo Cavalcante, Sílvia Maria Meira Magalhães, Ronald Feitosa Pinheiro
Myelodysplastic syndrome (MDS) are a heterogeneous group of clonal disease characterized by insufficiency of bone marrow, increase of apoptosis and increased risk of acute leukemia progression. Proteins related to the mitotic spindle (AURKA, AURKB, TPX2), to the mitotic checkpoint (MAD2, CDC20) and the regulation of the cell cycle (p21) are directly related to chromosomal stability and tumor development. This study aimed to evaluate the mRNA expression levels of these genes in 101 MDS patients using a real-time PCR methodology...
January 2018: Leukemia Research
Jeffrey L Lew, Joshua L Fenderson, Mark G Carmichael
Hypoplastic Myelodysplastic Syndrome (h-MDS) comprises 15% of all MDS and has traditionally been difficult to distinguish from aplastic anemia (AA) by current testing. Accurate differentiation is important because treatment and prognosis differ. Since the publication of the 2008 World Health Organization classification of MDS, next-generation DNA sequencing has discovered novel mutations strongly associated with AA and MDS. Recent research supports the utility of identifying these mutations in the diagnosis and management of MDS; however, use of next-generation sequencing is not yet recommended in guidelines and the study is not routinely performed...
November 2017: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
Alexandra Sokolova, Anton Mararenko, Alexander Rozin, Alida Podrumar, Vladimir Gotlieb
Fetal hemoglobin (HbF) is a physiologic protein tetramer that is crucial for a developing fetus to survive in utero. Maternal hemoglobin has a relatively lower affinity for oxygen, and thus allows for an efficient transfer of oxygen from maternal to fetal blood. In addition to fulfilling a critical physiologic role, HbF is also known to alleviate symptoms of sickle-cell disease (SCD). The concentration of HbF depends on several factors. HbF is elevated in inherited conditions, such as hereditary persistence of HbF, hereditary spherocytosis, and thalassemia...
October 16, 2017: Hematology/oncology and Stem Cell Therapy
Hai-Fang Zhang, Zhen-Dong Huang, Xue-Run Wu, Qian Li, Zhi-Feng Yu
AIMS: This study aims to compare the proportion of peripheral blood T lymphocyte subsets and related blood cell and bone marrow cytology indexes between patients with aplastic anemia (AA) and hypoplastic myelodysplastic syndrome (hypo-MDS), and investigate the clinical identification significance. MATERIALS AND METHODS: A total of 41 patients with AA and 46 patients with hypo-MDS were collected, and the proportions of peripheral blood T lymphocyte subsets, CD3(-)CD16/CD56(+)NK cells, CD3(+)CD57(+)T-LGL cells and CD19(+)B lymphocytes were detected by flow cytometry...
November 15, 2017: Life Sciences
Takashi Kobayashi, Yasuhito Nannya, Motoshi Ichikawa, Kenji Oritani, Yuzuru Kanakura, Akihiro Tomita, Hitoshi Kiyoi, Masayoshi Kobune, Junji Kato, Hiroshi Kawabata, Motohiro Shindo, Yoshihiro Torimoto, Yuji Yonemura, Nobuyoshi Hanaoka, Hideki Nakakuma, Daisuke Hasegawa, Atsushi Manabe, Naohito Fujishima, Nobuharu Fujii, Mitsune Tanimoto, Yasuyoshi Morita, Akira Matsuda, Atsushi Fujieda, Naoyuki Katayama, Haruhiko Ohashi, Hirokazu Nagai, Yoshiki Terada, Masayuki Hino, Ken Sato, Naoshi Obara, Shigeru Chiba, Kensuke Usuki, Masatsugu Ohta, Osamu Imataki, Makiko Uemura, Tomoiku Takaku, Norio Komatsu, Akira Kitanaka, Kazuya Shimoda, Kenichiro Watanabe, Kaoru Tohyama, Akifumi Takaori-Kondo, Hideo Harigae, Shunya Arai, Yasushi Miyazaki, Keiya Ozawa, Mineo Kurokawa
Hypoplastic myelodysplastic syndrome (hMDS) is a distinct entity with bone marrow (BM) hypocellularity and the risk of death from BM failure (BMF). To elucidate the characteristics of hMDS, the data of 129 patients diagnosed between April 2003 and March 2012 were collected from 20 institutions and the central review team of the National Research Group on Idiopathic Bone Marrow Failure Syndromes, and compared with 115 non-hMDS patients. More RA and fewer CMMoL and RAEB-t in French-American-British (FAB) and more RCUD and MDS-U and fewer RCMD in World Health Organization (WHO) classifications were found in hMDS than non-hMDS with significant differences...
December 2017: American Journal of Hematology
Yahong You, Jiali Huo, Shihong Lu, Yingqi Shao, Meili Ge, Jun Shi, Xingxin Li, Jinbo Huang, Zhendong Huang, Jing Zhang, Min Wang, Neng Nie, Yizhou Zheng
Acquired bone marrow failure syndromes (aBMFS) encompass a wide range of diseases. A study to investigate WT1 expression in BM was conducted in 387 patients with aBMFS in China. The WT1 level in patients with aplastic anemia (AA) was significantly lower than that in patients with paroxysmal nocturnal hemoglobinuria (PNH, p = .023) and myelodysplastic syndrome (MDS, p < .001). In addition, the WT1 level in patients with MDS significantly increased as the disease progressed to an advanced stage. Patients with hypoplastic MDS had a differentiated expression level of WT1 compared with that of NSAA (p < ...
July 21, 2017: Leukemia & Lymphoma
Sumit Grover, Amit Kumar Dhiman, Bhavna Garg, Neena Sood, Vikram Narang
Aplastic anemia (AA) is nowadays considered to be a clonal disorder arising from a defective hematopoietic stem cell developing after a generalized insult to bone marrow. Immunosuppressive treatment (IST) of AA causes suppression of the target dominant population of haematopoietic cells allowing the defective non targeted clones to expand. This may give rise to acute leukemia. Cytogenetic studies for chromosomal aberrations such as trisomy and monosomy may help in detecting such conversions. We present a case of acquired AA in a 60-year-old male presenting with pancytopenia and hypoplastic marrow treated with antithymocyte globulin, converting into myelodysplastic syndrome and later on acute promyelocytic leukemia after being in remission for 4 years...
July 2017: Journal of Laboratory Physicians
Howard L Ribeiro, Allan Rodrigo S Maia, Roberta Taiane G de Oliveira, Marília Braga Costa, Izabelle Rocha Farias, Daniela de Paula Borges, Juliana Cordeiro de Sousa, Silvia Maria M Magalhães, Ronald F Pinheiro
OBJECTIVE: To evaluate the expression of genes related to nuclear excision (ERCC8, XPA and XPC), homologous recombination and non-homologous end-joining (ATM, BRCA1, BRCA2 and LIG4) repair mechanisms, using quantitative PCR methodologies, and it relation with bone marrow cellularity in myelodysplastic syndrome (MDS). METHODS AND RESULTS: A total of 51 adult de novo patients with MDS (3 refractory anaemia (RA), 11 refractory anaemia with ringed sideroblasts (RARS), 28 refractory cytopenia with multilineage dysplasia (RCMD), 3 refractory anaemia with excess blasts type I (RAEB-I), 5 refractory anaemia with excess blasts type II (RAEB-II), and 1 chronic myelomonocytic leukaemia (CMML) were evaluated...
November 2017: Journal of Clinical Pathology
Oju Katayama, Tomoya Kitagawa, Takashi Onaka, Akihito Yonezawa
A 44-year-old woman had repeated bacterial infections because of hypoplastic myelodysplastic syndrome; therefore, she underwent allogeneic hematopoietic cell transplantation. Broad spectrum antibiotics were administered because she had bacterial infection and pneumonia 2 weeks before undergoing transplantation. On day19 after transplantation, she suddenly presented with hemoptysis. Stenotrophomonas maltophilia was considered to be the cause of hemorrhagic pneumonia, which required ventilation support, massive transfusion, and catecholamine administration...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Sabrina Pinheiro Santiago, Howard Lopes Ribeiro Junior, Juliana Cordeiro de Sousa, Daniela de Paula Borges, Roberta Taiane Germano de Oliveira, Izabelle Rocha Farias, Marília Braga Costa, Allan Rodrigo Soares Maia, Mayumi da Nóbrega Ito, Silvia Maria Meira Magalhães, Ronald Feitosa Pinheiro
The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and MDS, we evaluated 189 samples stratified in two groups: 95 bone marrow samples from MDS patients and 94 from healthy elderly volunteers used as controls. Genotypes for all polymorphisms were identified in DNA samples in an allelic discrimination experiment by real-time polymerase chain reaction (qPCR)...
July 2017: Leukemia Research
T Mercier, T Devos, M Mukovnikova, N Boeckx
INTRODUCTION: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease and can present as a wide range of signs and symptoms. As such, the indication for diagnostic testing for PNH is not always straightforward. Therefore, we analyzed all first-time samples tested over a 56-month period to determine the clinical settings with a high probability of detecting a PNH clone. METHODS: We retrospectively analyzed 323 first-time PNH flow cytometry tests, including LDH, cytopenias, direct antiglobulin test (DAT), and clinical indication for testing as available at the time of testing...
June 2017: International Journal of Laboratory Hematology
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
April 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Henrik Hasle
Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
Valeria Santini
The majority of myelodysplastic syndrome (MDS) patients belong to the International Prognostic Scoring System (IPSS) and IPSS-revised (IPSS-R) lower-risk categories. Their precise diagnostics and prognostic stratification is often a challenge, but may ensure the optimization of therapy. The availability of diverse treatment options has significantly improved the quality of life and survival of this group of patients. Anemia is the most relevant cytopenia in terms of frequency and symptoms in lower-risk MDS, and may be treated successfully with erythropoietic stimulating agents, provided a careful selection is performed on the basis of IPSS-R, endogenous erythropoietin levels, and transfusion independence...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
Yuan-Fei Lv, Zheng-Yu Yan, Nai-Yiao Chen, Jian-Hui Wu, Bin Liu, Guo-Li Wang, Jing Wang
OBJECTIVE: To explore the ratio of lymphocyte subsets in peripheral blood of patients with aplastic anemia (AA) and patients with hypoplastic myelodysplastic syndrome (hypo-MDS) patients and to evaluate their significance. METHODS: The clinical data of 181 cases of AA and 111 cases of hypo-MDS from January 2008 to December 2014 were collected from Blood Diseases Hospital of Chinese academy of medical sciences, and then the differences of lymphocyte subsets and its effect in 2 groups were analyzed...
October 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
Wolfgang Füreder, Sabine Cerny-Reiterer, Wolfgang R Sperr, Leonhard Müllauer, Eva Jäger, Ilse Schwarzinger, Klaus Geissler, Peter Valent
Patients with aplastic anemia or hypoplastic myelodysplastic syndrome (MDS) may respond to immunosuppressive therapy, including the anti-CD52 antibody alemtuzumab. We analyzed treatment responses to alemtuzumab in 5 patients with MDS or aplastic anemia (AA) evolving to MDS. Two patients with hypoplastic MDS (hMDS) showed a partial response (PR) to alemtuzumab. In both responding patients, a concomitant paroxysmal nocturnal hemoglobinuria (PNH) clone was detected before therapy. One responder relapsed after 15 months and underwent successful allogeneic stem cell transplantation...
June 2017: Wiener Klinische Wochenschrift
Chi-Yuan Yao, Hsin-An Hou, Tzung-Yi Lin, Chien-Chin Lin, Wen-Chien Chou, Mei-Hsuan Tseng, Ying-Chieh Chiang, Ming-Chih Liu, Chia-Wen Liu, Yuan-Yeh Kuo, Shang-Ju Wu, Xiu-Wen Liao, Chien-Ting Lin, Bor-Shen Ko, Chien-Yuan Chen, Szu-Chun Hsu, Chi-Cheng Li, Shang-Yi Huang, Ming Yao, Jih-Luh Tang, Woei Tsay, Chieh-Yu Liu, Hwei-Fang Tien
Myelodysplastic syndromes (MDS) are a heterogeneous group of hematologic malignancies. Although most MDS patients have normal or increased BM cellularity (NH-MDS), some have hypocellular BM (h-MDS). The reports concerning the differences in genetic alterations between h-MDS and NH-MDS patients are limited. In this study, 369 MDS patients diagnosed according to the WHO 2008 criteria were recruited. h-MDS patients had lower PB white blood cell and blast counts, and lower BM blast percentages, than those with NH-MDS...
September 27, 2016: Oncotarget
Joanna Grabska, Bijal Shah, Damon Reed, Najla Al Ali, Eric Padron, Hanadi Ramadan, Jeffrey Lancet, Alan List, Rami Komrokji
INTRODUCTION: There has been little improvement in cancer survival of adolescent and young adult (AYA) patients, aged 18 to 39 years, possibly reflecting different disease biology. Myelodysplastic syndrome (MDS) is mainly a disease of the elderly. The characteristics, outcomes, and response to treatment are not well described in the AYA population. PATIENTS AND METHODS: This was a retrospective review of patients from the Moffitt Cancer Center MDS database. We compared baseline characteristics and outcomes of the AYA population to older patients...
August 2016: Clinical Lymphoma, Myeloma & Leukemia
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