Tetrasomy 8 in Haematological Malignancies-A Case Series
Tetrasomy 8, a rare genetic abnormality in haematological disorders is associated with Acute Myeloid Leukaemia (AML), Myelodysplastic Syndrome, Myeloproliferative Neoplasms and Acute Non Lymphocytic Leukaemia. It may be found as a sole chromosomal abnormality or coexist with Trisomy 8. Tetrasomy 8...
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| Autores principales: | , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
JCDR Research and Publications Private Limited
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/00a9a33d93f14594b55c3529063b9d90 |
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| Sumario: | Tetrasomy 8, a rare genetic abnormality in haematological disorders is associated with Acute Myeloid Leukaemia (AML),
Myelodysplastic Syndrome, Myeloproliferative Neoplasms and Acute Non Lymphocytic Leukaemia. It may be found as a sole
chromosomal abnormality or coexist with Trisomy 8. Tetrasomy 8 has shown to have proliferative advantage and aggressive clinical
course with lower survival rates. Four cases of Tetrasomy 8 were reported in present series, of which one case showed Tetrasomy
8 as a sole chromosomal abnormality, two cases with it’s coexistence with Trisomy 8 and one case with complex rearrangement
of chromosome 8. Trisomy 8 as a sole abnormality is associated with intermediate prognosis; hence the aggressive behaviour of
the disease with Tetrasomy 8 can be attributed to increase in gene dosage of extra chromosome 8. The fourth case of AML with
monocytic differentiation showed complex karyotype with presence of two isochromosomes 8, resulting in five copies for long
arm of chromosome 8. This demonstrates presence of crucial genes for leukemogenesis in 8q region. From various studies, it is
evident that the role of Tetrasomy 8 in poor prognosis and role of associated genes in leukaemogenesis needs further investigation
on molecular deregulation mechanisms with biologic and clinical consequences. Building up on rare abnormalities by this study
would help in a better understanding of the disease with appropriate classification and ultimately can lead to an effective clinical
management. |
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