Platelet dysfunction as the presenting feature of atypical myelodysplastic syndrome with monosomy 7, normal blood counts and no bleeding tendency

1998 ◽  
Vol 15 (4) ◽  
pp. 275-278 ◽  
Author(s):  
Dragomir Marisavljević ◽  
Peter Antunović ◽  
Predrag Miljić ◽  
Milena Pantić
Keyword(s):  
Myelodysplastic Syndrome ◽  
Normal Blood ◽  
Bleeding Tendency ◽  
Platelet Dysfunction ◽  
Monosomy 7

scholarly journals Loss of maternal allele in a child with myelodysplastic syndrome and monosomy 7

1999 ◽  
Vol 62 (1) ◽  
pp. 49-51 ◽  
Author(s):  
Dilek Aktas ◽  
Id?l Yenicesu ◽  
Gonul H?csonmez ◽  
Ergul Tuncbilek
Keyword(s):  
Myelodysplastic Syndrome ◽  
Maternal Allele ◽  
Monosomy 7

Myelodysplastic Syndrome Associated with Monosomy 7 in a Child with Bloom Syndrome

2000 ◽  
Vol 116 (1) ◽  
pp. 44-46 ◽  
Author(s):  
Dilek Aktas ◽  
Ahmet Koc ◽  
Koray Boduroglu ◽  
Gonul Hicsonmez ◽  
Ergul Tuncbilek
Keyword(s):  
Myelodysplastic Syndrome ◽  
Bloom Syndrome ◽  
Monosomy 7

Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association

2017 ◽  
Vol 65 (1) ◽  
pp. e26747 ◽  
Author(s):  
David B. Wilson ◽  
Monica Bessler ◽  
Thomas W. Ferkol ◽  
Shalini Shenoy ◽  
Naoko Amano ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Clinical Features ◽  
Dyskeratosis Congenita ◽  
Monosomy 7

scholarly journals ASXL1 and STAG2 are Common Mutations in GATA2 Deficiency Patients with Bone Marrow Disease and Myelodysplastic Syndrome

2021 ◽  
Author(s):  
Robert R West ◽  
Katherine R Calvo ◽  
Lisa J Embree ◽  
Weixin Wang ◽  
Laura M Tuschong ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Myelodysplastic Syndrome ◽  
Disease Progression ◽  
Survival Probability ◽  
Somatic Mutations ◽  
Monosomy 7 ◽  
Myeloid Malignancies ◽  
Lower Survival ◽  
Common Diagnosis ◽  
Gata2 Deficiency

GATA2 Deficiency patients harbor de novo or inherited germline mutations in the GATA2 transcription factor gene, predisposing them to myeloid malignancies. There is considerable variation in disease progression, even among family members with the same mutation in GATA2. We investigated somatic mutations in 106 patients with GATA2 Deficiency to identify acquired mutations that are associated with myeloid malignancies. Myelodysplastic Syndrome (MDS) was the most common diagnosis (~44%), followed by GATA2 bone marrow immunodeficiency disorder (G2BMID) (~37%). Thirteen percent of the cohort had GATA2 mutations but displayed no disease manifestations. There were no correlations between patient age or sex with disease progression or survival. Cytogenetic analyses showed a high incidence of abnormalities (~43%)- notably trisomy 8 (~23%) and monosomy 7 (~12%), but these changes did not correlate with lower survival. Somatic mutations in ASXL1 and STAG2 were detected in ~25% of patients, though these mutations were rarely concomitant. Mutations in DNMT3A were found in ~10% of patients. These somatic mutations were found similarly in G2BMID and MDS, suggesting clonal hematopoiesis in early stages of disease, before the onset of MDS. ASXL1 mutations conferred a lower survival probability and were more prevalent in female patients. STAG2 mutations also conferred a lower survival probability, but did not show a statistically significant sex bias. There was a conspicuous absence of many commonly mutated genes associated with myeloid malignancies, including TET2, IDH1/2, and the splicing factor genes. Notably, somatic mutations in chromatin-related genes and cohesin genes characterized disease progression in GATA2 Deficiency

scholarly journals CD4 deficiency in myelodysplastic syndrome with monosomy 7

1996 ◽  
Vol 155 (2) ◽  
pp. 96-98
Author(s):  
C. M. R. Weemaes ◽  
F. Preijers ◽  
G. A. M. de Vaan ◽  
J. A. J. M. Bakkeren ◽  
I. S. Klasen ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Monosomy 7

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

2021 ◽  
Author(s):  
Mostafa Paridar ◽  
Kazem Zibara ◽  
Seyed Esmaeil Ahmadi ◽  
Abbas Khosravi ◽  
Maral Soleymani ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Cross Sectional Study ◽  
Cytogenetic Abnormality ◽  
Sectional Study ◽  
Trisomy 8 ◽  
Cross Sectional ◽  
Iron Storage ◽  
Monosomy 7 ◽  
Female Ratio ◽  
Cytogenetic Abnormalities

Abstract 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

scholarly journals Transient therapy-related myelodysplastic syndrome associated with monosomy 7 and 11q23 translocation

Leukemia ◽  
1997 ◽  
Vol 11 (3) ◽  
pp. 448-450 ◽  
Author(s):  
JH Laver ◽  
U Yusuf ◽  
ES Cantu ◽  
JC Barredo ◽  
LB Holt ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Monosomy 7
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