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:	Neeraja Koppaka, Sayli Kale, Deepak Chavan, Sandhya Kandoor, Ushang Kate, Anurita Pais
Formato:	article
Lenguaje:	EN
Publicado:	JCDR Research and Publications Private Limited 2021
Materias:	acute leukaemia chromosomes fluorescence in-situ hybridisation myelodysplastic syndrome survival Medicine R
Acceso en línea:	https://doaj.org/article/00a9a33d93f14594b55c3529063b9d90
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spelling	oai:doaj.org-article:00a9a33d93f14594b55c3529063b9d902021-11-10T05:17:35ZTetrasomy 8 in Haematological Malignancies-A Case Series10.7860/JCDR/2021/49618.153222249-782X0973-709Xhttps://doaj.org/article/00a9a33d93f14594b55c3529063b9d902021-09-01T00:00:00Zhttps://www.jcdr.net/articles/PDF/15322/49618_CE[Ra1]_F(SHU)_PF1(AKA_RK_KM)_PN(KM).pdfhttps://doaj.org/toc/2249-782Xhttps://doaj.org/toc/0973-709XTetrasomy 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.Neeraja KoppakaSayli KaleDeepak ChavanSandhya KandoorUshang KateAnurita PaisJCDR Research and Publications Private Limitedarticleacute leukaemiachromosomesfluorescence in-situ hybridisationmyelodysplastic syndromesurvivalMedicineRENJournal of Clinical and Diagnostic Research, Vol 15, Iss 9, Pp GR01-GR03 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	acute leukaemia chromosomes fluorescence in-situ hybridisation myelodysplastic syndrome survival Medicine R
spellingShingle	acute leukaemia chromosomes fluorescence in-situ hybridisation myelodysplastic syndrome survival Medicine R Neeraja Koppaka Sayli Kale Deepak Chavan Sandhya Kandoor Ushang Kate Anurita Pais Tetrasomy 8 in Haematological Malignancies-A Case Series
description	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.
format	article
author	Neeraja Koppaka Sayli Kale Deepak Chavan Sandhya Kandoor Ushang Kate Anurita Pais
author_facet	Neeraja Koppaka Sayli Kale Deepak Chavan Sandhya Kandoor Ushang Kate Anurita Pais
author_sort	Neeraja Koppaka
title	Tetrasomy 8 in Haematological Malignancies-A Case Series
title_short	Tetrasomy 8 in Haematological Malignancies-A Case Series
title_full	Tetrasomy 8 in Haematological Malignancies-A Case Series
title_fullStr	Tetrasomy 8 in Haematological Malignancies-A Case Series
title_full_unstemmed	Tetrasomy 8 in Haematological Malignancies-A Case Series
title_sort	tetrasomy 8 in haematological malignancies-a case series
publisher	JCDR Research and Publications Private Limited
publishDate	2021
url	https://doaj.org/article/00a9a33d93f14594b55c3529063b9d90
work_keys_str_mv	AT neerajakoppaka tetrasomy8inhaematologicalmalignanciesacaseseries AT saylikale tetrasomy8inhaematologicalmalignanciesacaseseries AT deepakchavan tetrasomy8inhaematologicalmalignanciesacaseseries AT sandhyakandoor tetrasomy8inhaematologicalmalignanciesacaseseries AT ushangkate tetrasomy8inhaematologicalmalignanciesacaseseries AT anuritapais tetrasomy8inhaematologicalmalignanciesacaseseries
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Tetrasomy 8 in Haematological Malignancies-A Case Series

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