Cytogenetic and molecular basis of BCR-ABL myelodysplastic syndrome: diagnosis and prognostic approach

Paridar, Mostafa; Ghalesardi, Omid Kiani; Seghatoleslami, Mohammad; Ahmadzadeh, Ahmad; Khosravi, Abbas; Saki, Najmaldin

doi:10.20517/2394-4722.2016.61

Cited by 7 publications

(7 citation statements)

References 24 publications

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“…MDS or AML exists. Drummond et al reported a case of a female patient who demonstrated a complete cytogenic response to imatinib 600 mg/day within 3 months and complete molecular remission after 14 months [4]. Keung et al reported a patient treated with imatinib 400 mg/day and cytopenia worsened.…”

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confidence: 99%

“…However, the significance of BCR-ABL1 translocation in patients with MDS is still poorly understood and only about 40 cases are documented in the literature from which less than 20 belonging to de novo category. Overall analysis of these cases has pointed toward a poor prognosis or aggressive disease course [2,4,5]. The presence of BCR-ABL1 translocation in MDS patients could suggest a stronger proliferation in the bone marrow because of increased tyrosine kinase activity but further clinical studies are needed to confirm this prediction as well as studies that include the molecular characterization of the patient's genome.…”

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confidence: 99%

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De Novo Philadelphia Chromosome (BCR/ABL1) Positive Myelodysplastic Syndrome: Is it a Distinct Molecular and Clinical Entity?

Katalinić

2017

Indian J Hematol Blood Transfus

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confidence: 99%

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confidence: 99%

De Novo Philadelphia Chromosome (BCR/ABL1) Positive Myelodysplastic Syndrome: Is it a Distinct Molecular and Clinical Entity?

Katalinić

2017

Indian J Hematol Blood Transfus

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“…The Philadelphia chromosome is formed by the translocation of t(9 : 22) with a resultant fusion gene which encodes the oncoprotein BCR-ABL1, with enhanced ABL tyrosine kinase activity [29, 30] leading to increased proliferation of myeloid cells which could lead to transformation of these patients with MDS into acute leukemia. It is estimated that about a third of MDS cases diagnosed will transform into AML, and the BCR/ABL1 translocation is estimated to be present in approximately 1% of patients with AML [7].…”

Section: Discussionmentioning

confidence: 99%

Philadelphia Translocation in MDS: A Case Report and a Brief Review of the Literature Looking at Its Prevalence, Disease Progression, and Treatment Options

Chelapareddy

Sen

2018

Case Reports in Hematology

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Myelodysplastic syndrome (MDS) is a group of clonal disorders characterized by ineffective and dysplastic hematopoiesis in the bone marrow with variable risk of progression to leukemia. MDS is characterized by specific karyotypic and molecular abnormalities. The t(9 : 22) Philadelphia translocation is not a common abnormality found in MDS, and it is not included in the prognostic indices for germline mutations. There are no definitive treatment guidelines for these patients either. Here, we reviewed previously reported cases of MDS with the Philadelphia translocation with a goal to determine their prognosis and treatment options, specifically the tyrosine kinase inhibitors (TKIs).

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“…Cytogenetic abnormalities such as ampli cations, deletions, and translocations have been detected in about 50% of patients with de novo MDS and 80% of patients with secondary MDS, as well (7). Evaluation of cytogenetic abnormalities is useful in the diagnosis of MDS and crucial in determining the prognosis (8).…”

Section: Diagnosis Of Mds Transpires Via Scrutiny Of the Peripheral Bmentioning

confidence: 99%

Clinico-Hematological and cytogenetic spectrum of adult myelodysplastic syndrome The first retrospective cross-sectional study in Iranian patients

Paridar

Zibara

Ahmadi

et al. 2021

Preprint

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Background Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different populations and geographic areas. Herein, we determined the cytogenetic spectrum and clinico-hematological features of Iranian MDS patients for the first time. Methods This prospective cross-sectional study was conducted on 103 patients with MDS in Ahvaz, southwest of Iran, from 2014 to 2018. Clinical presentations, complete blood counts (CBC), and bone marrow (BM) biopsy samples were assessed. Perls' staining was used to evaluate BM iron storage. The cytogenetic evaluation was performed using the conventional G banding method on the BM. Results Patients’ median age was 62.3 (ranged from 50–76), and the majority were male (72.8%). The most common clinical symptom at the time of admission was fatigue (n = 33) followed by pallor (n = 27). The most common subgroup was MDS-Multi Lineage Dysplasia (MDS-MLD) (n = 38, 36.8%), followed by MDS-Single Lineage Dysplasia (MDS-SLD) (n = 28, 18.4%). A normal karyotype was observed in 59 patients (57.3%), while 44 patients (42.7%) had cytogenetic abnormalities. Trisomy 8 (+ 8) was the most common cytogenetic abnormality (n = 14) followed by dell 17p (n = 9) and monosomy 7 (-7) (n = 7). Twelve patients (11.65 %) were transformed to AML. Conclusion Our data betokened that among our MDS patients, Trisomy 8 is the predominant cytogenetic abnormality, and MDS-MLD and MDS-SLD are the most common of subtypes. Noteworthy, the male: female ratio was slightly higher in Iran than in previous reports from other parts of the world. Our study is the first report of the clinical, hematological, and cytogenetic spectrum of MDS patients in Iran

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Cytogenetic and molecular basis of BCR-ABL myelodysplastic syndrome: diagnosis and prognostic approach

Cited by 7 publications

References 24 publications

De Novo Philadelphia Chromosome (BCR/ABL1) Positive Myelodysplastic Syndrome: Is it a Distinct Molecular and Clinical Entity?

De Novo Philadelphia Chromosome (BCR/ABL1) Positive Myelodysplastic Syndrome: Is it a Distinct Molecular and Clinical Entity?

Philadelphia Translocation in MDS: A Case Report and a Brief Review of the Literature Looking at Its Prevalence, Disease Progression, and Treatment Options

Clinico-Hematological and cytogenetic spectrum of adult myelodysplastic syndrome The first retrospective cross-sectional study in Iranian patients

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