Search Results - "Hirsch, Cassandra M"
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Rational management approach to pure red cell aplasia
Published in Haematologica (Roma) (01-02-2018)“…Pure red cell aplasia is an orphan disease, and as such lacks rationally established standard therapies. Most cases are idiopathic; a subset is…”
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Molecular features of early onset adult myelodysplastic syndrome
Published in Haematologica (Roma) (01-06-2017)“…Myelodysplastic syndromes are typically diseases of older adults. Patients in whom the onset is early may have distinct molecular and clinical features or…”
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3
Invariant phenotype and molecular association of biallelic TET2 mutant myeloid neoplasia
Published in Blood advances (12-02-2019)“…Somatic TET2 mutations (TET2MT) are frequent in myeloid neoplasia (MN), particularly chronic myelomonocytic leukemia (CMML). TET2MT includes mostly…”
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Consequences of mutant TET2 on clonality and subclonal hierarchy
Published in Leukemia (01-08-2018)“…Somatic mutations in TET2 are common in myelodysplastic syndromes (MDS), myeloproliferative, and overlap syndromes. TET2 mutant ( TET2 MT ) clones are also…”
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5
Clonal PIGA mosaicism and dynamics in paroxysmal nocturnal hemoglobinuria
Published in Leukemia (01-11-2018)Get full text
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Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes
Published in Blood (22-11-2018)Get full text
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7
BCOR and BCORL1 mutations in myelodysplastic syndromes (MDS): clonal architecture and impact on outcomes
Published in Leukemia & lymphoma (12-05-2019)Get full text
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8
Selective Pharmacologic Inhibition of Paroxysmal Nocturnal Hemoglobinuria Clones
Published in Blood (29-11-2018)“…Paroxysmal nocturnal hemoglobinuria (PNH) is usually associated with reduced bone marrow (BM) capacity caused by acquired idiopathic aplastic anemia (AA). PIGA…”
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Clonal Hierarchy of Piga Mutant Cells Assessed By Next Generation Sequencing Is More Complex Than Previously Recognized in Paroxysmal Noctural Hemoglobinuria
Published in Blood (02-12-2016)“…Since the pivotal revelation of the PIGA gene mutations responsible for glycosylphosphatidylinositol (GPI) anchor deficiency over 20 years ago, molecular and…”
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10
Quantification of Erythroblast- and Myelocyte-Derived mRNAs in Plasma Exosomes As an Indicator of Bone Marrow Status in Patients with Various Types of Anemias and Myeloproliferative Disorders
Published in Blood (02-12-2016)“…Introduction. Bone marrow (BM) aspiration is a routine test for hematologists, but it is a painful procedure for the patients. Since BM cells primarily stay in…”
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11
Heterozygous CTC1 Variants in Acquired Bone Marrow Failure
Published in Blood (29-11-2018)“…Germ line (GL) alterations of telomerase machinery genes may lead to inherited telomeropathies, but recent analysis of large control populations revealed that…”
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Pathogenic Germline Variants in Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH)
Published in Blood (29-11-2018)“…Next generation sequencing (NGS) methods, including whole exome sequencing (WES) and sequencing of large panels of genes have become standard tools…”
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Clinical and Biological Implications of CUX1 Mutations in Myeloid Neoplasms
Published in Blood (02-12-2016)“…Recurrent somatic mutations of CUX1 are described in myeloid neoplasms. CUX1 is located at chromosome 7q22.1; -7/del(7q) involving CUX1 locus are common…”
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14
Somatic PRPF8 Mutations in Myeloid Neoplasia
Published in Blood (08-12-2017)“…Somaticmutations in genes of the RNA-splicing machinery are recurrent in myeloid neoplasia. PRPF8 has a central role in the spliceosome assembly and it is…”
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15
Paroxysmal Nocturnal Hemoglobinuria Results from Initial Clonal PIG-a Mosaicism
Published in Blood (08-12-2017)“…The pathogenesis of PNH involves alteration of at least one HSC clone, characterized by a somatic mutation in the PIG-A gene. The resulting phenotype appears…”
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Clinical and Molecular Heterogeneity of Moderate Aplastic Anemia
Published in Blood (29-11-2018)“…Based on clinical Camitta criteria, acquired aplastic anemia is categorized according to the degree of blood count depression as severe (sAA) or moderate…”
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LUC7L2 Is a Novel RNA-Splicing Regulatory Factor Mutated in Myelodysplastic Syndromes
Published in Blood (29-11-2018)“…Myelodysplastic syndromes (MDS) are unique among cancers because of the frequent occurrence of somatic mutations impacting spliceosome machinery. At least 65%…”
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Analysis of Even a Limited Number of Genes Indicates a Strong Inherited Component in Otherwise Typical Sporadic MDS
Published in Blood (29-11-2018)“…Somatic mutations are frequently found in patients with MDS. Germline (GL) alterations are less common, in part due to sequencing panels limited to mutations…”
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Genotype-Resultant Morphology of Myelodysplastic Syndromes (MDS)
Published in Blood (29-11-2018)“…Morphology has dominated the diagnosis and classification of MDS for decades. With the advent of NGS, morphology is used as a gold standard to assess…”
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Distinct Implications of TP53 Hits for Patients with Treatment-Related MDS and AML
Published in Blood (29-11-2018)“…Background:TP53 is one of the most frequently mutated genes across all malignancies. Efforts to describe its role in Myeloid Neoplasms (MN) as well as Clonal…”
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