Trisomy 1q in a patient with severe aplastic anemia

Department of Medicine, University of Oklahoma Health Sciences Center, 941 Stanton L. Young Blvd, Oklahoma City, OK 73104, USA.
Cancer Genetics and Cytogenetics (Impact Factor: 1.93). 09/2006; 169(1):73-5. DOI: 10.1016/j.cancergencyto.2006.03.014
Source: PubMed


Aplastic anemia is a rare, serious disease characterized by hypocellular bone marrow and pancytopenia in the peripheral blood. Most cases are acquired, idiopathic, and without gross cytogenetic abnormalities. A few chromosome abnormalities have recurred among a small subset of patients, most commonly trisomy 8 and monosomy 7. Some of these chromosome abnormalities have prognostic and therapeutic significance, although for most the clinical relevance is not known. We present the case of a 40-year-old man with idiopathic severe aplastic anemia in bone marrow cells with trisomy of the whole long arm of chromosome 1 due to an unbalanced translocation between chromosomes 1 and 15 at breakpoints of q10 and 15q10. This clonal abnormality (which, to our knowledge, has not been previously reported in a patient with aplastic anemia) suggests that genes on 1q may be involved in marrow aplasia.

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    • "An individual with severe aplastic anemia has been reported with trisomy of the whole of 1q in his bone marrow cells, due to an unbalanced translocation between chromosomes 1 and 15 [t(1;15)(q10;q10)]. Therefore, genes on 1q may be involved in marrow aplasia [Angelidis et al., 2006] and trisomy of 1q may provide a predisposition to neoplastic transformation . Neither the genes nor the mechanism by which they are deregulated are known at present, but clearly have an emerging role in some childhood and adult cancers. "
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    ABSTRACT: We present the longest known surviving case of a male infant with a mosaic complete trisomy 1q. Born at 39 weeks of gestation with respiratory distress, his weight was 3,330 g (25th centile); he had micrognathia, a posterior cleft of palate, abnormal ears and left thumb, syndactyly, and an absent corpus callosum. Initial blood karyotype was normal (46,XY). He died at age 5 months. Autopsy suggested aspiration as the primary cause of death and confirmed the antemortem findings of an absent corpus callosum and atrial septal defect. It also identified some central nervous system, cardiac, gastrointestinal, and lung anomalies not previously recognized. Cytogenetic analysis of skin fibroblasts obtained at autopsy showed a de novo unbalanced translocation between chromosomes 1 and 22: 46,XY,+1,der(1;22)(q10;q10)[25]/46,XY[65] in the cells examined. The previously reported cases had a similar phenotype with birth weight above the 50th centile for gestational age, small mouth, micrognathia, abnormal ears, abnormal fingers, microphthalmia, and hydrocephalus. The present case and a review of the literature delineates the phenotype in trisomy 1q, and reinforces the critical importance of effective communication between specialists, and obtaining permission for autopsy and skin biopsy, in the pursuit of a diagnosis.
    American Journal of Medical Genetics Part A 08/2009; 149A(8):1795-800. DOI:10.1002/ajmg.a.32959 · 2.16 Impact Factor
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    ABSTRACT: A rare karyotypic event, der(1;15)(q10;q10), which involves the whole long arms of chromosomes 1 and 15, has been reported in patients with various conditions, including acute myelogenous leukemia, myelodysplastic syndrome, polycythemia vera, and multiple myeloma. Only 27 cases of unbalanced der(1;15)(q10;q10) have been documented in the literature as single or complexed chromosomal abnormalities in hematological malignancies. Here, we describe two cases of acute lymphoblastic leukemia with der(1;15)(q10;q10), and review the previous reports. Although more case studies are needed, we suggest that der(1;15)(q10;q10) should be considered a nonrandom chromosomal abnormality in hematological malignancies including both lymphoid and myeloid neoplasms.
    Cancer Genetics and Cytogenetics 01/2008; 179(2):132-5. DOI:10.1016/j.cancergencyto.2007.08.008 · 1.93 Impact Factor
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    ABSTRACT: Translocations involving chromosomes 1 and 15 are uncommon in hematologic malignancies. So far, only 42 cases have been reported with t(1;15) as a reciprocal or complex chromosomal abnormalities. We herein report the first case in the literature, to our knowledge, of a 44-year-old female with essential thrombocythemia and severe myelofibrosis who developed acute myeloid leukemia (AML-M4) with der(1;15)(q10;q10) after 13 years of treatment. In addition, we reviewed the literature for all up-to-date published cases with t(1;15).
    Cancer genetics and cytogenetics 07/2010; 200(1):28-33. DOI:10.1016/j.cancergencyto.2010.03.010 · 1.93 Impact Factor
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