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Fluorescent In-Situ Hybridization is the Hand Mirror of Cytogenetics: A Rare Case of Near Tetraploidy in Pediatric Acute Lymphoblastic Leukemia

Ashwini Rajan, Deepika GS, Renu Ethirajan, Intezar Mehdi, Basavalinga S. Ajaikumar, Mithua Ghosh, Prasanna Kumari


Identification of specific chromosomal changes has important prognostic and biological implications in childhood Acute Lymphoblastic Leukemia (ALL). ALL cases with >90 chromosomes are rare. Here, we report a case of near-tetraploidy in a 4 year old boy diagnosed with B-cell ALL, where the ploidy was identified by Fluorescent In- Situ Hybridization (FISH) and confirmed by Conventional Cytogenetics. Our aim was to enumerate multiple signals observed by FISH, and to confirm the same by cytogenetics. FISH on cytogenetically fixed air-dried slides was performed by using BCR/ABL and MLL probe .Two hundred cells were scored. BMA was cultured and G-banded metaphases were analyzed in accordance with ISCN 2013. The results of the FISH test showed more than two signals and cytogenetics revealed clones of near-tetraploidy with mn >90, karyotype: 90-92, <4n>XXY,-Y,-10,-10,-13, +14, +17, along with normal clones. The tetraploidy condition compared to hyperdiploid ALL has a poorer prognosis and the rarity of these cases makes accounting on treatment decisions a supposition. Presently, the patient is on standard treatment for ALL (UK ALL regime A). The numerical abnormality detected by FISH was confirmed by cytogenetics, which facilitated in reporting the results of this case earlier than the defined turnaround time. Therefore author opines that FISH reports should also contain observed additional information along with positive or negative status of the requested test.


Chromosome; FISH; tetraploidy

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Paulsson K, Forestier E, Lilljebjorn H, Heldrup J, Behrendtz M, Young B et al. Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia. Proceedings of the National Academy of Sciences. 2010;107(50):21719-21724

Carroll W. Safety in numbers: hyperdiploidy and prognosis. Blood. 2013;121(13):2374-2376.

Storchova ZKuffer C. The consequences of tetraploidy and aneuploidy. Journal of Cell Science. 2008;121(23):3859-3866

Mazloumi S, Madhumathi D, Appaji L, Prasannakumari P. Asian Pacific Journal of Cancer Prevention. 2012;13(8):3825-3827

Kearney L. The impact of the new FISH technologies on the cytogenetics of haematological malignancies. British Journal of Haematology. 1999;104(4):648-658

Garcia D, Bhatt S, Manvelyan M, de Souza M, Binato R, Aguiar T et al. An unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype. Mol Cytogenet. 2011;4(1):20

Haltrich I, Kovács G, Csóka M, Jakab Z, Fekete G. P065 Cytogenetic and FISH findings are complementary in childhood ALL. Blood Reviews. 2007;21:S107

Shaffer L, McGowan-Jordan J, Schmid M. ISCN 2013. Basel: Karger; 2013


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