Transient therapy-related myelodysplastic syndrome associated with monosomy 7 and 11q23 translocation
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چکیده
منابع مشابه
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7
Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1-42). All patients presented with ...
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We describe a 60-year-old Japanese patient with chronic myeloid leukemia (CML) who developed myelodysplastic syndrome (MDS) with Ph negative monosomy 7 chromosome following transient bone marrow dysplasia during imatinib treatment. Most cases that developed chromosomal abnormality in Ph negative cells during imatinib therapy were reported to have less clinical implications, while rare cases dev...
متن کاملTrisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents.
A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23----pter and monosomic for 11q23----qter. His parents were both carriers of a balanced reciprocal translocation. Considerable overlap in phenotype-karyotype correlations was found between the two chromosomal syndromes in the patient.
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Namık Özbek1, Arzu Yazal Erdem1, Özlem Arman Bilir1, Fatma Karaca Kara2, Mutlu Yüksek3, Neşe Yaralı1, Meltem Özgüner4, Nazmiye Yüksek5, Bahattin Tunç1 1Ankara Children’s Hematology and Oncology Hospital, Clinic of Pediatric Hematology, Ankara, Turkey 2Ankara Children’s Hematology and Oncology Hospital, Clinic of Biochemistry, Ankara, Turkey 3Bülent Ecevit University Faculty of Medicine, Departm...
متن کاملTranslocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome
Most myelodysplastic syndromes (MDS) present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. In addition, certain translocations are more commonly seen in MDS than others, but to our knowledge, the presence of t(6;15) has not been reported in MDS, specifically therapy-related MDS (t-MDS) cases. Patients with t-MDS, a group of heterogeneous ...
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ژورنال
عنوان ژورنال: Leukemia
سال: 1997
ISSN: 0887-6924,1476-5551
DOI: 10.1038/sj.leu.2400576