Guiding the global evolution of cytogenetic testing for hematologic malignancies.

Cytogenetics has long represented a critical component in the clinical evaluation of hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot of genome-wide copy number and structural variation, which have been shown to drive tumorigenesis, define diseases, and guide treatment. Technological innovations in sequencing have ushered in our present-day clinical genomics era. With recent publications highlighting novel sequencing technologies as alternatives to conventional cytogenetic approaches, we, an international consortium of laboratory geneticists, pathologists, and oncologists, describe herein the advantages and limitations of both conventional chromosome banding and novel sequencing technologies and share our considerations on crucial next steps to implement these novel technologies in the global clinical setting for a more accurate cytogenetic evaluation, which may provide improved diagnosis and treatment management. Considering the clinical, logistic, technical, and financial implications, we provide points to consider for the global evolution of cytogenetic testing.

Citogenética de la leucemia linfoblástica aguda del adulto / Cytogenetic analysis in adult acute lymphoblastic leukemia

El análisis citogenético, junto a la citología, los marcadores celulares y la biología molecular, constituyen el conjunto de las pruebas diagnósticas esenciales en la leucemia linfoblástica aguda (LLA). Se presentan cariotipos alterados entre un 64 y un 85% de casos de LLA del adulto, y constituyen un factor pronóstico independiente de primer orden, indicado por primera vez en el Third International Workshop on Chromosomes in Leukemia. Las alteraciones cromosómicas que se observan con frecuencia en la LLA del adulto son las translocaciones t(9;22)(q34;q11), t(4;11)(q21;q23), t(1;19)(q23;p13.3), t(8;14)(q24;q32), los reordenamientos 11q23, las deleciones del cromosoma 9p, 6q y 12p, los reordenamientos de los genes de los receptores de las células T (TCR) (14q11.2 [TCR-α y TCR-δ], 7q35 [TCR-β] y 7p15 [TCR-γ]), la hiperdiploidía superior a 50 cromosomas y la hipodiploidía de 30–39 cromosomas. En esta revisión se describe la relevancia clínica de los principales trastornos citogenéticos en la LLA del adulto (AU)

Cytogenetic analysis, together with cytology, cellular markers and molecular biology, are essential diagnostic tests in acute lymphoblastic leukemia (ALL). Abnormal karyotypes are found in 64-85% of adults with ALL and are an independent prognostic factor, first identified in the IIIrd International Workshop on Chromosomes in Leukemia (IWCL). The most frequently observed chromosomal alterations in adult ALL are t(9;22)(q34;q11), t(4;11)(q21;q23), t(1;19)(q23;p13.3) translocations, 11q23 rearrangement, chromosome 9p, 6q and 12p deletions, rearrangement of the T-cell receptor genes (14q11.2 (TCR-α and TCR-δ), 7q35 (TCR-β) and 7p15 (TCR-γ)), hyperdiploidy with more than 50 chromosomes and hypodiploidy with 30–39 chromosomes. The present review describes the clinical relevance of the main cytogenetic abnormalities in adult ALL (AU)