Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype
| Autor: | Bent Pedersen, Niels Clausen, Knud Bendix-Hansen, Henrik Hasle |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Male
Cancer Research Pathology medicine.medical_specialty Myeloid Population Aneuploidy Trisomy Biology Trisomy 8 Genetics medicine Humans Child education Molecular Biology education.field_of_study Mosaicism medicine.disease Phenotype medicine.anatomical_structure Karyotyping Myelodysplastic Syndromes Chromosome abnormality Bone marrow Abnormality Chromosomes Human Pair 8 |
| Zdroj: | Cancer Genetics and Cytogenetics. 79:79-81 |
| ISSN: | 0165-4608 |
| DOI: | 10.1016/0165-4608(94)00099-w |
| Popis: | Trisomy 8 is a frequently acquired cytogenetic abnormality in myeloid malignancies, but may also represent a constitutional chromosome abnormality with a wide phenotypic variation. We report a case of myelodysplastic syndrome (MDS) that developed in a child with trisomy 8 mosaicism and normal phenotype. Bone marrow (BM) cells all showed trisomy 8 with additional clonal abnormalities in most cells. Based on the present case and a review of previously published cases of myeloid malignancies in patients with trisomy 8 mosaicism, it appears likely that the malignant cells developed from the trisomic cell population, suggesting that constitutional trisomy 8 may be a predisposing condition to myeloid malignancies. Trisomy 8 in malignant cells is usually considered an acquired abnormality, but this implies a risk of ignoring a constitutional trisomy 8 mosaicism. Examination for constitutional trisomy 8, despite a normal phenotype, may therefore be warranted in hematologic malignancies with trisomy 8 of BM cells to evaluate further the possible association and to preclude erroneous use of trisomy 8 as a tumor marker. |
| Databáze: | OpenAIRE |
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