Comparison of hypoplastic myelodysplastic syndrome (MDS) with normo-/hypercellular MDS by International Prognostic Scoring System, cytogenetic and genetic studies

Tc, Huang; Ko, Bor-Sheng; Tang, Jih-Luh; Hsu, Chuan-Yu; Cy, Chen; Tsay, Woei; Sy, Huang; Yao, Ming; Yc, Chen; Mc, Shen; Ch, Wang; Tien, Hwei‐Fang

doi:10.1038/sj.leu.2405076

Cited by 53 publications

(47 citation statements)

References 37 publications

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“…On the other hand refractory anemia (RA) was most commonly observed in China and Greece [6,10]. In our study, hypoplastic MDS was seen in 23 (13%) which is an interesting finding not observed in previous studies [1][2][3][6][7][8][9][10][11][12][13][14][15]. Refractory cytopenia of childhood (RCC) was observed in only one of our patients.…”

Section: Discussioncontrasting

confidence: 42%

“…Refractory cytopenia of childhood (RCC) was observed in only one of our patients. However we compared the classification with some previous studies in which they have followed French American British (FAB) classification [6,7,[11][12][13] which is one of our study limitations.…”

Section: Discussionmentioning

confidence: 99%

“…2). Mean hemoglobin (Hb), total leukocyte count (TLC), platelets, MCV at baseline and subtypes of MDS as per WHO classification in comparison with other national and international studies is shown in Table 1 [1][2][3][6][7][8][9][10][11][12][13][14][15].…”

Section: Resultsmentioning

confidence: 99%

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Clinicohematological and Cytogenetic Profile of Myelodysplastic Syndromes in Pakistan – Compare and Contrast

Anwar¹,

Ali²,

Nadeem³

et al. 2017

Leukemia Research

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Section: Discussioncontrasting

confidence: 42%

Section: Discussionmentioning

confidence: 99%

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Clinicohematological and Cytogenetic Profile of Myelodysplastic Syndromes in Pakistan – Compare and Contrast

Anwar¹,

Ali²,

Nadeem³

et al. 2017

Leukemia Research

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“…24 Within our cohort, 8% of patients had hypocellular MDS, a slightly lower percentage than what has been described in other studies. 25,26 Of note, half of our hMDS cohort harbored monosomy 7 as the sole SNP-A lesion detected, conferring on them a higher rate of leukemia transformation. This finding may be helpful for distinguishing hMDS from other MDS.…”

Section: Discussionmentioning

confidence: 99%

Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis

Jerez

Sugimoto

Makishima

et al. 2012

Blood

105

106

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Loss of heterozygosity affecting chromosome 7q is common in acute myeloid leukemia and myelodysplastic syndromes, pointing toward the essential role of this region in disease phenotype and clonal evolution. The higher resolution offered by recently developed genomic platforms may be used to establish more precise clinical correlations and identify specific target genes. We analyzed a series of patients with myeloid disorders using recent genomic technologies (1458 by single-nucleotide polymorphism arrays

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“…Further, approximately 50% of MDS patients, including those with hypo-MDS, have normal karyotype by metaphase cytogenetics (MC), which makes the distinction even more difficult. 2 We previously reported that single nucleotide polymorphism (SNP) array karyotyping can improve the detection of chromosomal lesions that can distinguish hypo-MDS patients from those with aplastic anemia (AA).…”

mentioning

confidence: 99%

Genomic patterns associated with hypoplastic compared to hyperplastic myelodysplastic syndromes

et al. 2015

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While the bone marrow in most patients with myelodysplastic syndromes (MDS) has normal or increased cellularity (hyper-MDS), approximately 10%-15% of MDS patients will present with a hypocellular bone marrow (hypo-MDS).1 Since the diagnosis of MDS relies mainly on the presence of dyplastic morphology of myeloid precursors and/or the presence of recurrent chromosomal abnormalities, low cellularity aspirates in patients with hypo-MDS may compromise morphologic evaluation and karyotypic analyses, and ultimately contribute to difficulties in distinguishing hypo-MDS from other bone marrow failure syndromes. Further, approximately 50% of MDS patients, including those with hypo-MDS, have normal karyotype by metaphase cytogenetics (MC), which makes the distinction even more difficult. 2We previously reported that single nucleotide polymorphism (SNP) array karyotyping can improve the detection of chromosomal lesions that can distinguish hypo-MDS patients from those with aplastic anemia (AA).3 This finding suggests that clonal abnormalities can be detected in haematologica 2015; 100:e434 LETTERS TO THE EDITOR © F e r r a t a S t o r t i F o u n d a t i o nhypo-MDS and AA by using higher sensitivity methods other than MC. Recently, next generation sequencing (NGS) technologies of the human genome identified several genes that are frequently affected by somatic mutations and play an important role in both the prognosis and the pathogenesis of MDS.4-6 Some of these mutations have a significant impact on disease phenotype, the progression of MDS to acute myeloid leukemia (AML), and on overall survival (OS).4-6 Somatic mutations in genes such as ASXL1, TET2, and DNMT3A are present in healthy individuals, and their incidence increases with age.7 More importantly, the presence of these mutations predisposes these individuals to develop hematologic malignancies.7 Furthermore, somatic mutations in genes such as ASXL1, TET2, DNMT3A and BCOR, were found in 19% of patients with AA, and their presence was associated with an increased risk of transformation to MDS and AML. 8These findings suggest that somatic mutations in certain genes have the potential to contribute to both disease initiation and progression.Using NGS technologies, we hypothesized that identification of somatic mutations and their combinations may help to define the clonal architecture that can lead to the development of hypo-MDS, and that these somatic mutations can possibly be used to aid in establishing the diagnosis.Bone marrow and peripheral blood samples were collected from 237 patients diagnosed with MDS (according to the 2008 WHO criteria) 9 at our institution between January 2000 and December 2013. Informed consent for sample collection was obtained according to protocols approved by the institutional review boards of Cleveland Clinic and in accordance with the Declaration of Helsinki. Hypo-MDS was defined using a standard definition of bone marrow cellularity

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Comparison of hypoplastic myelodysplastic syndrome (MDS) with normo-/hypercellular MDS by International Prognostic Scoring System, cytogenetic and genetic studies

Cited by 53 publications

References 37 publications

Clinicohematological and Cytogenetic Profile of Myelodysplastic Syndromes in Pakistan – Compare and Contrast

Clinicohematological and Cytogenetic Profile of Myelodysplastic Syndromes in Pakistan – Compare and Contrast

Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis

Genomic patterns associated with hypoplastic compared to hyperplastic myelodysplastic syndromes

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