A case of B-cell acute lymphoblastic leukemia in a child with Down syndrome bearing a t2;12p12;p13 involving ETV6 and biallelic IGH@ rearrangementsReportar como inadecuado

A case of B-cell acute lymphoblastic leukemia in a child with Down syndrome bearing a t2;12p12;p13 involving ETV6 and biallelic IGH@ rearrangements - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Biomarker Research

, 3:11

First Online: 05 June 2015Received: 17 April 2015Accepted: 26 May 2015DOI: 10.1186-s40364-015-0036-1

Cite this article as: Tirado, C.A., Shabsovich, D., Kim, Y. et al. Biomark Res 2015 3: 11. doi:10.1186-s40364-015-0036-1


BackgroundRearrangements involving ETV6 12p13 are among the most common structural abnormalities in pediatric B-cell acute lymphoblastic leukemia B-ALL and involve numerous partner genes. Additionally, the t8;14q11.2;q32, which can result in the placement of CEBPD 8q11.2 near the regulatory regions of IGH@ 14q32 and consequent overexpression of CEPBD, occurs at a higher frequency in individuals with Down syndrome-associated ALL DS-ALL compared to both the general and pediatric population. The coexistence of cytogenetically detectable ETV6 abnormalities and t8;14q11.2;q32 is a rare occurrence in B-ALL and has only been reported in a single case in the literature.

FindingsHerein, we present a case of B-ALL in a 9-year old male with Down syndrome in which conventional cytogenetic analysis revealed two reciprocal translocations: a t8;14q11.2;q32 and a t2;12p12;p13. Interphase and metaphase fluorescence in situ hybridization FISH analysis using break apart probes confirmed the involvement of IGH@ and ETV6 in these translocations, respectively. Additionally, interphase FISH revealed a clonal subpopulation bearing biallelic IGH@ rearrangements not observed by conventional cytogenetic analysis.

ConclusionsTo the best of our knowledge, this is the first reported case of B-ALL bearing an ETV6 translocation with a partner gene on the short arm of chromosome 2 confirmed by FISH. Additionally, it is the second reported case of t8;14q11.2;q32-ALL bearing a concomitant, cytogenetically detectable abnormality involving ETV6. This case provides insight into a novel translocation involving ETV6 as well as potentially unique and understudied mechanisms of clonal evolution in pediatric B-ALL.

KeywordsETV6 B-ALL Cytogenetics FISH Carlos A. Tirado and David Shabsovich contributed equally to this work.

An erratum to this article can be found at http:-dx.doi.org-10.1186-s40364-015-0052-1.

An erratum to this article is available at http:-dx.doi.org-10.1186-s40364-015-0052-1.

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Autor: Carlos A. Tirado - David Shabsovich - Yeun Kim - Peter Traum - Sheeja Pullarkat - Michael Kallen - Nagesh Rao

Fuente: https://link.springer.com/

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