19 results on '"Hu, Shimin"'
Search Results
2. Well-differentiated systemic mastocytosis with associated myeloid sarcoma and myelodysplastic syndrome: Diagnostic challenges of an underrecognized entity.
- Author
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El Hussein S, Hu S, Fang H, Garces S, Muzzafar T, Wang SA, Medeiros LJ, Bueso-Ramos C, and Jelloul FZ
- Subjects
- Humans, Mast Cells, Proto-Oncogene Proteins c-kit, Mastocytosis, Systemic complications, Mastocytosis, Systemic diagnosis, Myelodysplastic Syndromes complications, Myelodysplastic Syndromes diagnosis, Sarcoma, Myeloid complications, Sarcoma, Myeloid diagnosis
- Published
- 2022
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3. Clinicopathologic Features of Myelodysplastic Syndromes Involving Lymph Nodes.
- Author
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Fang H, Wang SA, Xie W, Tang Z, Hu S, Krishnamurthy S, Medeiros LJ, and Wang W
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- Aged, Biopsy, Cytogenetic Analysis, Diagnosis, Differential, Female, Humans, Immunohistochemistry, Immunophenotyping, Lymph Nodes chemistry, Lymph Nodes drug effects, Male, Middle Aged, Myelodysplastic Syndromes drug therapy, Myelodysplastic Syndromes genetics, Myelodysplastic Syndromes metabolism, Predictive Value of Tests, Prognosis, Retrospective Studies, Time Factors, Lymph Nodes pathology, Myelodysplastic Syndromes pathology
- Abstract
Lymph nodes (LNs) involved by a myelodysplastic syndrome (MDS) are rare and uncommonly biopsied. In this study, we report 6 MDS patients who underwent an LN biopsy that showed MDS, and we summarize the clinicopathologic features of this cohort. All patients presented with lymphadenopathy (generalized in 5), 5 patients had splenomegaly, and 3 patients had hepatomegaly. Histologically, the LN architecture was distorted without complete effacement. MDS cells, mostly of the myeloid lineage, produced interfollicular expansion. These myeloid cells exhibited a spectrum of maturation, and immature and atypical forms were common, including eosinophils. Scattered megakaryocytes and nucleated erythroid cells were often present. Concurrent bone marrow aspirate and biopsy specimens in these patients showed persistent/resistant MDS. Following the diagnosis of LN involvement, patients did not respond well to therapy and all died by the time of the last follow-up, with a median survival of 6.7 months (range, 4.5 to 21.6 mo). In summary, patients with MDS uncommonly develop clinically evident lymphadenopathy prompting biopsy as a result of infiltration by MDS. MDS in LNs can be subtle, showing incomplete and sometimes mild distortion of the architecture, and ancillary studies including immunohistochemical and flow cytometric immunophenotypic analysis are often needed to establish the diagnosis. These data also suggest that the emergence of lymphadenopathy attributable to MDS is associated with poor treatment response and prognosis in MDS patients and that aggressive therapy or alternative treatment regimens need to be explored in this context., Competing Interests: Conflicts of Interest and Source of Funding: The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2021
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4. Myelodysplastic syndrome with t(6;9)(p22;q34.1)/DEK-NUP214 better classified as acute myeloid leukemia? A multicenter study of 107 cases.
- Author
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Fang H, Yabe M, Zhang X, Kim Y, Wu X, Wei P, Chi S, Zheng L, Garcia-Manero G, Shao L, Yuan J, Shen Y, Zheng G, Tang G, Wang W, Loghavi S, Shen Q, Yuan Y, He R, Chen D, Medeiros LJ, and Hu S
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Child, Chromosomal Proteins, Non-Histone genetics, Chromosomes, Human, Pair 6 genetics, Chromosomes, Human, Pair 9 genetics, Female, Humans, Male, Middle Aged, Nuclear Pore Complex Proteins genetics, Oncogene Fusion, Oncogene Proteins genetics, Oncogene Proteins, Fusion, Poly-ADP-Ribose Binding Proteins genetics, Translocation, Genetic, Young Adult, Leukemia, Myeloid, Acute genetics, Leukemia, Myeloid, Acute pathology, Myelodysplastic Syndromes genetics, Myelodysplastic Syndromes pathology
- Abstract
t(6;9)(p22;q34.1)/DEK-NUP214 is a recurrent genetic abnormality that occurs in 1-2% of patients with acute myeloid leukemia (AML), and rarely in myelodysplastic syndrome (MDS). It has been suggested by others that all myeloid neoplasms with t(6;9)/DEK-NUP214 may be considered as AML, even when blast count is <20%. In this study, we compared the clinicopathologic features of 107 patients with myeloid neoplasms harboring t(6;9)/DEK-NUP214: 33 MDS and 74 AML. Compared with patients with AML, patients with MDS were older (p = 0.10), had a lower white blood cell count (p = 0.0017), a lower blast count in the peripheral blood (p < 0.0001) and bone marrow (p < 0.0001), a higher platelet count (p = 0.022), and a lower frequency of FLT3-ITD mutation (p = 0.01). In addition, basophilia was not a common feature in the patients of this cohort. Although there was no difference in overall survival between MDS and AML patients (p = 0.18) in the entire cohort, the survival curves did show a trend toward favorable survival in MDS patients. Multivariate analyses showed that initial diagnosis of MDS vs. AML and allogeneic hematopoietic stem cell transplantation were prognostic factors for survival of patients with t(6;9)/DEK-NUP214 (p = 0.008 and p < 0.0001, respectively). Our data suggest that MDS with t(6;9)/DEK-NUP214 is prognostically not equivalent to AML with t(6;9)/DEK-NUP214. These data also show that stem cell transplantation greatly improves the survival of MDS and AML patients with myeloid neoplasms associated with t(6;9)/DEK-NUP214.
- Published
- 2021
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5. Myeloid neoplasms associated with t(3;12)(q26.2;p13) are clinically aggressive, show myelodysplasia, and frequently harbor chromosome 7 abnormalities.
- Author
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Ronaghy A, Hu S, Tang Z, Wang W, Tang G, Loghavi S, Li S, Thakral B, Medeiros LJ, and Muzzafar T
- Subjects
- Adult, Aged, Female, Humans, Male, Middle Aged, Myelodysplastic Syndromes pathology, Myeloproliferative Disorders pathology, Translocation, Genetic, Chromosomes, Human, Pair 12 genetics, Chromosomes, Human, Pair 3 genetics, Chromosomes, Human, Pair 7 genetics, Myelodysplastic Syndromes genetics, Myeloproliferative Disorders genetics
- Abstract
Sporadic reports of t(3;12)(q26.2;p13) indicate that this abnormality is associated with myeloid neoplasms, myelodysplasia, and a poor prognosis. To better characterize neoplasms with this abnormality, we assessed 20 patients utilizing clinicopathological data, cytogenetic, and targeted next-generation sequencing analysis. We also performed literature review of 58 prior reported cases. Patients included ten men and ten women with median age 55.8 years (range, 27.8-78.8). Diagnoses included 11 acute myeloid leukemia (AML, 5 de novo and 6 secondary), 5 myelodysplastic syndromes (MDS, 3 de novo excess blasts-2 and 2 therapy-related), 2 chronic myeloid leukemia BCR-ABL1-positive blast phase (1 de novo and 1 secondary), 1 primary myelofibrosis (secondary), and 1 mixed-phenotype acute leukemia T/myeloid (MPAL, secondary). Morphologic dysplasia was identified in all AML cases (5/5), MDS cases (4/4), therapy-related cases (3/3), half of myeloproliferative neoplasm cases (1/2), and one MPAL case assessed. The t(3;12) was detected de novo and in subsequent workups in 9 and 11 patients, respectively. Seven patients had t(3;12) only and eight patients had additional chromosome 7 abnormalities. Fluorescence in-situ hybridization detected MECOM (n = 11) and ETV6 (n = 7) rearrangements in all cases assessed. FLT3 internal tandem duplication was identified in five (25%) patients. We identified 13 genetic abnormalities in the de novo group (n = 9), and 25 in the secondary disease group (n = 11). All patients received chemotherapy, with seven allogeneic and two autologous stem cell transplantations. At last follow-up, 14 (70%) patients died with median survival of 6.3 months (range, 0.1-17.3) after detection of t(3;12). In summary, t(3;12)(q26.2;p13) is a rare cytogenetic abnormality in myeloid neoplasms. Myelodysplasia, chromosome 7 abnormalities, and high blast counts are common, and the prognosis is poor. Given the close relationship between the presence of this cytogenetic abnormality and the MDS-related changes, we recommend adding t(3;12)(q26.2;p13) to the list of AML with myelodysplasia-related changes defining abnormalities of the World Health Organization 2017 classification of myeloid neoplasms.
- Published
- 2021
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6. t(11;16)(q23;p13)/KMT2A-CREBBP in hematologic malignancies: presumptive evidence of myelodysplasia or therapy-related neoplasm?
- Author
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Xie W, Tang G, Wang E, Kim Y, Cloe A, Shen Q, Zhou Y, Garcia-Manero G, Loghavi S, Hu AY, Wang S, Bueso-Ramos CE, Kantarjian HM, Medeiros LJ, and Hu S
- Subjects
- Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Risk Assessment, CREB-Binding Protein genetics, Chromosomes, Human, Pair 11 genetics, Chromosomes, Human, Pair 16 genetics, Databases, Factual, Hematologic Neoplasms drug therapy, Hematologic Neoplasms genetics, Hematologic Neoplasms mortality, Histone-Lysine N-Methyltransferase genetics, Leukemia, Myeloid, Acute drug therapy, Leukemia, Myeloid, Acute genetics, Leukemia, Myeloid, Acute mortality, Myelodysplastic Syndromes drug therapy, Myelodysplastic Syndromes genetics, Myelodysplastic Syndromes mortality, Myeloid-Lymphoid Leukemia Protein genetics, Neoplasms, Second Primary drug therapy, Neoplasms, Second Primary genetics, Neoplasms, Second Primary mortality, Oncogene Proteins, Fusion genetics, Topoisomerase II Inhibitors administration & dosage, Translocation, Genetic
- Abstract
Fusion partners of KMT2A affect disease phenotype and influence the current World Health Organization classification of hematologic neoplasms. The t(11;16)(q23;p13)/KMT2A-CREBBP is considered presumptive evidence of a myelodysplastic syndrome (MDS) and a MDS-related cytogenetic abnormality in the classification of acute myeloid leukemia (AML). Here, we report 18 cases of hematologic neoplasms with t(11;16). There were 8 males and 10 females with a median age of 51.9 years at time of detection of t(11;16). Of 17 patients with enough clinical information and pathological materials for review, 16 had a history of cytotoxic therapies for various malignancies including 12/15 patients who received topoisomerase II inhibitors, and 15 were classified as having therapy-related neoplasms. The median interval from the diagnosis of primary malignancy to the detection of t(11;16) was 23.2 months. Dysplasia, usually mild, was observed in 7/17 patients. Blasts demonstrated monocytic differentiation in 8/8 patients who developed AML at the time or following detection of t(11;16). t(11;16) was observed as the sole chromosomal abnormality in 10/18 patients. KMT2A rearrangement was confirmed in 11/11 patients. The median survival from the detection of t(11;16) was 15.4 months. In summary, t(11;16)(q23;p13) is rare and overwhelmingly associated with prior exposure of cytotoxic therapy. Instead of being considered presumptive evidence of myelodysplasia, we suggest that the detection of t(11;16) should automatically prompt a search for a history of malignancy and cytotoxic therapy so that proper risk stratification and clinical management are made accordingly. The dismal outcome of patients with t(11;16) is in keeping with that of therapy-related neoplasms.
- Published
- 2020
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7. Successful lenalidomide treatment in high risk myelodysplastic syndrome with germline DDX41 mutation.
- Author
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Abou Dalle I, Kantarjian H, Bannon SA, Kanagal-Shamanna R, Routbort M, Patel KP, Hu S, Bhalla K, Garcia-Manero G, and DiNardo CD
- Subjects
- Humans, Male, Middle Aged, Risk Factors, DEAD-box RNA Helicases genetics, Germ-Line Mutation, Lenalidomide administration & dosage, Myelodysplastic Syndromes drug therapy, Myelodysplastic Syndromes enzymology, Myelodysplastic Syndromes genetics
- Published
- 2020
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8. Lymphoblastic leukemia following myelodysplastic syndromes or myelodysplastic/myeloproliferative neoplasms.
- Author
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Xie W, Chen Z, Wang SA, Hu S, Li S, Miranda RN, Medeiros LJ, and Tang G
- Subjects
- Aged, Aged, 80 and over, Biomarkers, Biopsy, Cytogenetic Analysis, Disease Progression, Female, High-Throughput Nucleotide Sequencing, Humans, Immunohistochemistry, Immunophenotyping, In Situ Hybridization, Fluorescence, Male, Middle Aged, Mutation, Myelodysplastic Syndromes etiology, Myelodysplastic-Myeloproliferative Diseases etiology, Myelodysplastic Syndromes pathology, Myelodysplastic-Myeloproliferative Diseases pathology, Precursor Cell Lymphoblastic Leukemia-Lymphoma diagnosis, Precursor Cell Lymphoblastic Leukemia-Lymphoma etiology
- Abstract
Lymphoblastic leukemia (ALL) following myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm (MDS/MPN) is very rare. We report five cases: four had ALL diagnosed after MDS or MDS/MPN and one had ALL and MDS diagnosed simultaneously. At the onset of ALL, all patients showed co-existing MDS or MDS/MPN. Map-back FISH was performed in four patients, showing that ALL and MDS were cytogenetically related in two patients and unrelated in the other two patients. All five patients were treated with ALL-based chemotherapies, two patients with ALL clonally related to MDS were refractory to the therapies, whereas the other three patients achieved remission. We conclude that ALL developed after MDS is extremely rare. In some patients, ALL is clonally related to MDS and these patients may be refractory to ALL-based chemotherapies. In other patients who have no evidence of clonal relation between ALL and MDS, these patients more likely respond to ALL-based treatment regimens.
- Published
- 2019
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9. Philadelphia chromosome-negative acute leukemia in patients with chronic myeloid leukemia.
- Author
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Gong Z, Xu ML, Chen M, Cui W, Kantarjian HM, Cortes JE, Zhou T, Tang G, Wang W, Medeiros LJ, and Hu S
- Subjects
- Abnormal Karyotype, Adult, Aged, Aged, 80 and over, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Bone Marrow pathology, Chromosome Aberrations, Diagnosis, Differential, Diagnostic Errors, Female, Follow-Up Studies, Humans, Leukemia, Myelogenous, Chronic, BCR-ABL Positive drug therapy, Leukemia, Myeloid, Acute drug therapy, Leukemia, Myeloid, Acute genetics, Male, Middle Aged, Myelodysplastic Syndromes genetics, Neoplasms, Second Primary drug therapy, Neoplasms, Second Primary genetics, Philadelphia Chromosome, Retrospective Studies, Young Adult, Blast Crisis diagnosis, Leukemia, Myelogenous, Chronic, BCR-ABL Positive physiopathology, Leukemia, Myeloid, Acute diagnosis, Myelodysplastic Syndromes diagnosis, Neoplasms, Second Primary diagnosis
- Published
- 2019
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10. Secondary Philadelphia chromosome acquired during therapy of acute leukemia and myelodysplastic syndrome.
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Kurt H, Zheng L, Kantarjian HM, Tang G, Ravandi-Kashani F, Garcia-Manero G, Gong Z, Amin HM, Konoplev SN, Routbort MJ, Han X, Wang W, Medeiros LJ, and Hu S
- Subjects
- Acute Disease, Adolescent, Adult, Aged, Female, Humans, Male, Middle Aged, Young Adult, Antineoplastic Agents therapeutic use, Leukemia drug therapy, Myelodysplastic Syndromes drug therapy, Neoplasm Recurrence, Local genetics, Philadelphia Chromosome drug effects
- Abstract
The Philadelphia chromosome resulting from t(9;22)(q34;q11.2) or its variants is a defining event in chronic myeloid leukemia. It is also observed in several types of de novo acute leukemia, commonly in B lymphoblastic leukemia, and rarely in acute myeloid leukemia, acute leukemia of ambiguous lineage, and T lymphoblastic leukemia. Acquisition of the Philadelphia chromosome during therapy of acute leukemia and myelodysplastic syndrome is rare. We reported 19 patients, including 11 men and 8 women with a median age of 53 years at initial diagnosis. The diagnoses at initial presentation were acute myeloid leukemia (n = 11), myelodysplastic syndrome (n = 5), B lymphoblastic leukemia (n = 2), and T lymphoblastic leukemia (n = 1); no cases carried the Philadelphia chromosome. The Philadelphia chromosome was detected subsequently at relapse, or at refractory stage of acute leukemia or myelodysplastic syndrome. Of 14 patients evaluated for the BCR-ABL1 transcript subtype, 12 had the e1a2 transcript. In 11 of 14 patients, the diseases before and after emergence of the Philadelphia chromosome were clonally related by karyotype or shared gene mutations. Of 15 patients with treatment information available, 7 received chemotherapy alone, 5 received chemotherapy plus tyrosine kinase inhibitors, 2 received tyrosine kinase inhibitors only, and 1 patient was not treated. Twelve patients had follow-up after acquisition of the Philadelphia chromosome; all had persistent/refractory acute leukemia. Thirteen of 15 patients died a median of 3 months after the emergence of the Philadelphia chromosome. In summary, secondary Philadelphia chromosome acquired during therapy is rare, and is associated with the e1a2 transcript subtype, terminal disease stage, and poor outcome.
- Published
- 2018
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11. Clinical significance of isolated del(7p) in myeloid neoplasms.
- Author
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Gur HD, Wang SA, Tang Z, Hu S, Li S, Medeiros LJ, and Tang G
- Subjects
- Adult, Aged, Clone Cells, Female, Humans, Leukemia, Myeloid diagnosis, Leukemia, Myeloid, Acute diagnosis, Leukemia, Myeloid, Acute genetics, Leukemia, Myelomonocytic, Chronic diagnosis, Leukemia, Myelomonocytic, Chronic genetics, Male, Middle Aged, Myelodysplastic Syndromes diagnosis, Primary Myelofibrosis diagnosis, Prognosis, Chromosome Deletion, Chromosomes, Human, Pair 7 genetics, Leukemia, Myeloid genetics, Myelodysplastic Syndromes genetics, Primary Myelofibrosis genetics
- Abstract
Sole del(7p) is a rare finding in myeloid neoplasms and its clinical significance is largely unknown. Here we report 10 patients with isolated del(7p), 4 had acute myeloid leukemia (AML), 2 myelodysplastic syndromes (MDS), 1 chronic myelomonocytic leukemia (CMML), 1 primary myelofibrosis (PMF), and 2 AML in remission. Seven patients had large and 3 had small del(7p) clone. For patients with AML, 3 acquired del(7p) either at disease relapse or disease progression, then became refractory to therapy and died shortly thereafter (median 5 months). Detection of del(7p) in patients with MDS, CMML, or PMF appeared to predict poorer prognosis as all 4 patients experienced disease progression or transformation to AML after 5-24 months. In the remaining 3 patients (1 AML and 2 AML in remission), del(7p) was only detected in 10% to 30% of metaphases and was a transient finding that did not appear to have any clinical impact. We conclude that detection of del(7p) in myeloid neoplasms, when presents as a major clone, often poses a high risk for disease progression and refractoriness to therapy; whereas when del(7p) presents as a small clone, it may not carry any clinical significance., (Copyright © 2017 Elsevier Ltd. All rights reserved.)
- Published
- 2017
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12. Newly emerged isolated Del(7q) in patients with prior cytotoxic therapies may not always be associated with therapy-related myeloid neoplasms.
- Author
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Goswami RS, Wang SA, DiNardo C, Tang Z, Li Y, Zuo W, Hu S, Li S, Medeiros LJ, and Tang G
- Subjects
- Adult, Aged, Aged, 80 and over, Databases, Genetic, Female, Humans, Male, Middle Aged, Myelodysplastic Syndromes chemically induced, Antineoplastic Agents adverse effects, Chromosome Deletion, Chromosomes, Human, Pair 7, Myelodysplastic Syndromes genetics, Neoplasms, Second Primary genetics
- Abstract
Deletion 7q is a common chromosomal abnormality in myeloid neoplasms. Detection of del(7q) in patients following cytotoxic therapies is highly suggestive of an emerging therapy-related myeloid neoplasm. In this study, we describe 39 patients who acquired del(7q) as a sole abnormality in their bone marrow following cytotoxic therapies for malignant neoplasms. The median interval from cytotoxic therapies to detection of del(7q) was 40 months (range, 4-190 months). Twenty-eight patients showed an interstitial and 11 showed a terminal 7q deletion. Fifteen patients (38%) had del(7q) as a large clone and 24 (62%) as a small clone. With a median follow-up of 21 months (range, 1-135 months), 18 (46%) patients developed therapy-related myeloid neoplasms, including all 15 patients with a large del(7q) clone and 3/24 (12.5%) with a small clone. Of the remaining 21 patients with a small del(7q) clone, 16 showed no evidence of therapy-related myeloid neoplasms and 5 had an inconclusive pathological diagnosis. We conclude that isolated del(7q) emerging in patients after cytotoxic therapy may not always be associated with therapy-related myeloid neoplasms in about half of patients. The clone size of del(7q) is critical; a large clone is almost always associated with therapy-related myeloid neoplasms, whereas a small clone can be a clinically indolent or transient finding.
- Published
- 2016
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13. Plasma circulating-microRNA profiles are useful for assessing prognosis in patients with cytogenetically normal myelodysplastic syndromes.
- Author
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Zuo Z, Maiti S, Hu S, Loghavi S, Calin GA, Garcia-Manero G, Kantarjian HM, Medeiros LJ, Cooper LJ, and Bueso-Ramos CE
- Subjects
- Adult, Aged, Aged, 80 and over, Cytogenetic Analysis, Female, High-Throughput Nucleotide Sequencing, Humans, Kaplan-Meier Estimate, Male, Middle Aged, Myelodysplastic Syndromes mortality, Prognosis, Biomarkers blood, MicroRNAs blood, Myelodysplastic Syndromes blood, Myelodysplastic Syndromes genetics
- Abstract
Myelodysplastic syndromes are a heterogeneous group of clonal bone marrow hematopoietic stem cell disorders characterized by ineffective hematopoiesis and peripheral cytopenias. Chromosomal abnormalities and gene mutations have been shown to have essential roles in pathogenesis and correlate with prognosis. Molecular markers, however, are not integrated into currently used prognostic systems. The goal of this study is to identify plasma microRNAs useful for classification and risk stratification of myelodysplastic syndromes. We applied a novel, high-throughput digital quantification technology (NanoString) to profile microRNA expression in plasma samples of 72 patients with myelodysplastic syndromes and 12 healthy individuals. We correlated these results with overall survival. In patients with myelodysplastic syndromes associated with a diploid karyotype, we identified and validated a 7-microRNA signature as an independent predictor of survival with a predictive power of 75% accuracy (P=0.008), better than those of the International Prognostic Scoring Systems and the MD Anderson Prognostic Lower Risk Prognostic Model. We also identified differentially expressed plasma microRNAs in patients with myelodysplastic syndromes versus healthy individuals and between patients with myelodysplastic syndromes associated with different cytogenetic features. These results validate the utility of circulating-microRNA levels as noninvasive biomarkers that can inform the management of patients with myelodysplastic syndromes. Our findings also shed light on interactions of gene regulation pathways that are likely involved in the pathogenesis of myelodysplastic syndromes.
- Published
- 2015
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14. Isolated +15 in bone marrow: disease-associated or a benign finding?
- Author
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Goswami RS, Liang CS, Bueso-Ramos CE, Hu S, Goswami M, Yin CC, Lu G, Medeiros LJ, and Tang G
- Subjects
- Aged, Chromosomes, Human, Pair 15 genetics, Female, Humans, Male, Middle Aged, Bone Marrow pathology, Leukemia, Myeloid, Acute genetics, Leukemia, Myeloid, Acute pathology, Lymphocytes pathology, Myelodysplastic Syndromes genetics, Myelodysplastic Syndromes pathology, Myeloid Cells pathology, Trisomy genetics, Trisomy pathology
- Abstract
It has been controversial if trisomy 15 (+15) as an isolated clonal cytogenetic abnormality in bone marrow (BM) is disease-associated or a benign finding. To answer this question, we retrospectively reviewed our cytogenetic archives and identified 31 patients with isolated +15. Four patients presented with acute myeloid leukemia (AML), +15 was the major clone (56-95% of interphases) in BM and the clonal size of +15 was correlated with blast burden and disease status. For the remaining 27 patients, +15 was a minor clone (3-24% of interphases) in BM. Eighteen patients had a history of cytotoxic therapies and developed +15 after a median latency interval of 34 months. Six patients had BM involvement by lymphoma or myeloma, and +15 was exclusively detected in myeloid and erythroid cells, not in lymphoma or myeloma cells. With a median follow-up of 28 months, none of these 27 patients had clinical or morphological evidence of myelodysplastic syndromes. We conclude that +15 can be associated with AML, but more often isolated +15 presents as a minor clone in BM, and may not be disease associated. Clinical follow-up rather than an immediate therapeutic intervention seems most appropriate for non-leukemic patients with isolated +15., (Copyright © 2014 Elsevier Ltd. All rights reserved.)
- Published
- 2015
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15. Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms.
- Author
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Tang G, Lu X, Wang SA, Roney EK, Zhang L, Hu S, Lu G, Medeiros LJ, and Patel A
- Subjects
- Adult, Child, Chromosome Inversion genetics, Female, Gene Rearrangement, Histone-Lysine N-Methyltransferase, Humans, In Situ Hybridization, Fluorescence, Leukemia, Myeloid pathology, Male, Myelodysplastic Syndromes pathology, Neoplasm Recurrence, Local genetics, Neoplasm Recurrence, Local pathology, Neoplasms, Second Primary genetics, Neoplasms, Second Primary pathology, Precursor Cell Lymphoblastic Leukemia-Lymphoma pathology, Chromosomes, Human, Pair 11 genetics, Leukemia, Myeloid genetics, Myelodysplastic Syndromes genetics, Myeloid-Lymphoid Leukemia Protein genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma genetics
- Abstract
Rearrangements of the MLL gene located at chromosome 11q23 are common chromosomal abnormalities associated with acute leukemias. In vast majority of cases with MLL gene rearrangements, only one chromosome 11 or a single MLL allele got involved. We report two very unusual cases of myeloid neoplasms with homozygous inv(11)(q21q23) and biallelic MLL rearrangement. Both patients, a 12-year old boy and a 29-year old woman, presented initially with T lymphoblastic leukemia/lymphoma (T-ALL), achieved complete remission with intensive chemotherapy, then recurred as acute myeloid leukemia in one patient and therapy-related myelodysplastic syndromes in the other patient, 24 and 15 months after initial T-ALL diagnosis, respectively. In both cases, biallelic MLL gene rearrangements were confirmed by fluorescence in situ hybridization. Mastermind like 2 gene was identified as MLL partner gene in one case. To our knowledge, homozygous inv(11)(q21q23) with two MLL genes rearrangement are extremely rare; it is likely a result of acquired uniparental disomy.
- Published
- 2014
16. Early detection of transformation to BPDCN in a patient with MDS
- Author
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Chamoun, Kamal, Loghavi, Sanam, Pemmaraju, Naveen, Konopleva, Marina, Kroll, Michael, Nguyen-Cao, Madeleine, Hornbaker, Marisa, DiNardo, Courtney D., Kadia, Tapan, Jorgensen, Jeffrey, Andreeff, Michael, Hu, Shimin, and Benton, Christopher B.
- Published
- 2018
- Full Text
- View/download PDF
17. 3q26/EVI1 rearrangement in myelodysplastic/myeloproliferative neoplasms: An early event associated with a poor prognosis.
- Author
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Hu, Zhihong, Hu, Shimin, Ji, Changsheng, Tang, Zhenya, Thakral, Beenu, Loghavi, Sanam, Medeiros, L.Jeffrey, and Wang, Wei
- Subjects
- *
ACUTE myeloid leukemia , *MYELODYSPLASTIC syndromes , *CYTOGENETICS , *KARYOTYPES , *GENETIC mutation , *PROGNOSIS - Abstract
3q26.2/ EVI1 rearrangements resulting in EVI1 overexpression play an important role in leukemogenesis and are associated with treatment resistance and a poorer prognosis in patients with acute myeloid leukemia, myelodysplastic syndrome, chronic myeloid leukemia and BCR-ABL negative myeloproliferative neoplasms. In this study, we aim to explore the clinicopathological features of myelodysplastic/myeloproliferative (MDS/MPN) neoplasms with 3q26.2/ EVI1 rearrangements and determine the potential impact of these cytogenetic abnormalities on treatment response and survival. The study group included 12 cases of MDS/MPN with 3q26.2 rearrangements detected by conventional karyotyping. There were 7 men and 5 women with a median age of 67 years (range, 51–79 years) at time of initial MDS/MPN diagnosis. Ten cases were classified as chronic myelomonocytic leukemia (CMML) and 2 were MDS/MPN, unclassifiable. Among CMML cases, 5 (50%) were proliferative type and 5 (50%) were dysplastic type. Based on blast counts, these 10 CMML were: CMML-0 (n = 2), CMML-1 (n = 3), and CMML-2 (n = 5). Eleven (92%) patients had 3q26 rearrangements at the initial diagnosis. Inv(3)(q21q26.2) was most common, identified in 7(58%) patients, followed by t(3;21)(q26.2;q22) in 2 patients and 1 patient each with t(3;3)(q21;q26.2), t(2;3)(p21;q26-27), and t(3;6)(q26.2;q26). Six (50%) patients had 3q26.2 rearrangements as a sole cytogenetic abnormality and 6 (50%) patients had additional cytogenetic abnormalities. Molecular studies revealed DNMT3A mutations in all 3 patients assessed and RAS mutations in 2 of 8 (25%) patients. No mutations in ASXL1 (n = 3), TET2 (n = 3), FLT3 ITD/D835 (n = 10), and CEBPA (n = 7) were detected. Most patients received hypomethylating agent based chemotherapy. The median follow-up was 11.5 months (range, 1.5–24 months) and at time of last follow-up, 11 (92%) died with a median survival of 13.4 months (range, 1.5–24 months). The only patient alive had a relatively short follow-up of 2.4 months and showed disease progression at the last visit. In conclusion, 3q26.2/ EVI1 rearrangements are a rare event and usually present at time of initial diagnosis in MDS/MPN. The presence of 3q26.2/ EVI1 rearrangements in MDS/MPN is associated with rapid disease progression, poor response to treatment, and a poor prognosis. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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18. Author Correction: Mutational landscape and its clinical significance in paroxysmal nocturnal hemoglobinuria.
- Author
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Chen, Fangfei, Hu, Shimin, Ruan, Jing, Chen, Miao, and Han, Bing
- Subjects
PAROXYSMAL hemoglobinuria ,MYELODYSPLASTIC syndromes - Published
- 2021
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19. Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms
- Author
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Tang, Guilin, Lu, Xinyan, Wang, Sa A., Roney, Erin K., Zhang, Liping, Hu, Shimin, Lu, Gary, L. Jeffrey Medeiros, and Patel, Ankita
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Adult ,Gene Rearrangement ,Male ,Chromosomes, Human, Pair 11 ,Neoplasms, Second Primary ,Histone-Lysine N-Methyltransferase ,Precursor Cell Lymphoblastic Leukemia-Lymphoma ,Leukemia, Myeloid ,hemic and lymphatic diseases ,Myelodysplastic Syndromes ,Chromosome Inversion ,Humans ,Original Article ,Female ,Neoplasm Recurrence, Local ,Child ,neoplasms ,In Situ Hybridization, Fluorescence ,Myeloid-Lymphoid Leukemia Protein - Abstract
Rearrangements of the MLL gene located at chromosome 11q23 are common chromosomal abnormalities associated with acute leukemias. In vast majority of cases with MLL gene rearrangements, only one chromosome 11 or a single MLL allele got involved. We report two very unusual cases of myeloid neoplasms with homozygous inv(11)(q21q23) and biallelic MLL rearrangement. Both patients, a 12-year old boy and a 29-year old woman, presented initially with T lymphoblastic leukemia/lymphoma (T-ALL), achieved complete remission with intensive chemotherapy, then recurred as acute myeloid leukemia in one patient and therapy-related myelodysplastic syndromes in the other patient, 24 and 15 months after initial T-ALL diagnosis, respectively. In both cases, biallelic MLL gene rearrangements were confirmed by fluorescence in situ hybridization. Mastermind like 2 gene was identified as MLL partner gene in one case. To our knowledge, homozygous inv(11)(q21q23) with two MLL genes rearrangement are extremely rare; it is likely a result of acquired uniparental disomy.
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