Almost all neoplasms have their prognosis determined by cytogenetic and molecular factors, which determines a tailored approach for each case. According to the World Health Organization, every case of Acute Lymphoblastic Leukemia (ALL) must be classified not only immunophenotypically but also from a genetic point of view. Over the last few years, it has been recognized the differences in incidence and genetic profile of ALL from Latin America (LA). In Brazil, a large country with a distinctive ethnical background when compared to the rest of LA, few reports on ALL have been published and there is a limited availability of genetic tests for classification, especially in public health service.


To describe cytogenetic (karyotype and fluorescence in situ hybridization, FISH), molecular markers and World Health Organization (WHO) -2016 classification of diagnostic samples sent to two reference centers in Brazil.

Material and Methods

This is a cross-sectional study involving patients diagnosed with ALL from January 2014 to May 2018. Diagnostic bone marrow specimens were analyzed by G band conventional karyotyping (Nomenclature according International System for Human Cytogenomic 2016) (n: 157), molecular markers [(genic fusions by RT-PCR - BCR-ABL1 (n: 96), TCF3-PBX1 (n: 77), ETV6-RUNX1 (n: 83), KMT2A-AFF (n:74)] and B-ALL multi-probe FISH (n:54) were employed according to manufacturer's recommendations and following international guidelines. It was attempted to classify all cases by WHO-2016, as well as by age. Samples with no metaphases, non-conclusive or without molecular tests were considered non-classifiable


Samples from 157 ALL patients at diagnosis were analyzed. Median age was 8 years old (1 month - 88 years) [6 (3.8%) cases had less than 12 months; 99 (63%) between 1 to 15 years; 22 (14%) between 16 and 39 years and 30 (19.1%) older than 40 years]. The majority were B cell lineage ALL (93%). Thirty cases were excluded due to missing immunophenotyping, karyotype and/or molecular studies. Alterations were detected in 94 (74%) of 127 cases [88 (76%)/116 in B-ALL and 6 (54%)/11 in T-ALL. It was possible to classify by WHO 2016 B-ALL subtypes 116 cases, all of them stratified by age groups (Graphic 1).


Our results are consistent with the literature, showing that KMT2A rearrangement predominates in infant ALL, while a pediatric age range from 1 to 15 years old, with a predominance of good prognostic subtypes: hyperdiploidy and ETV6-RUNX1. In adults, there is predominance of the BCR-ABL1 subtype, which seems to be more frequent than non-Latin cohorts. B-ALL NOS was detected in 27.8% of the cases, predominating in the age group of 16 to 39 years, which may correspond to Ph-like ALL, a recently described subtype linked to a worse prognosis and seemingly more common in latinos.


No relevant conflicts of interest to declare.

Author notes


Asterisk with author names denotes non-ASH members.

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