Science and Technology Production
Congress
Authorship
Boycho Marisa Esther
;
Colli Sandra Lorena
;
García Lombardi Mercedes
;
De Matteo Elena Noemí
;
Preciado Maria victoria
;
LORENZETTI, MARIO ALEJANDRO
Date
2024
Publishing House and Editing Place
Sociedad Argentina de Investigación Clinica (SAIC)
Summary
Information provided by the agent in
SIGEVA
Wilms tumor (WT) is the most common renal tumor in children with an ASR of 6.2/million in Argentina. About 40 genes are related to WT development but SIOP and COG are still compiling molecular data from the northern hemisphere. Our aim was to characterize molecular alterations on pediatric WT from our region and compare the performance of two stratification approaches. Thirty one FFPE-biopsies of WT were assayed by FISH covering 7 chrom. regions and MLPA, the latter covering 4 additional chrom....
Wilms tumor (WT) is the most common renal tumor in children with an ASR of 6.2/million in Argentina. About 40 genes are related to WT development but SIOP and COG are still compiling molecular data from the northern hemisphere. Our aim was to characterize molecular alterations on pediatric WT from our region and compare the performance of two stratification approaches. Thirty one FFPE-biopsies of WT were assayed by FISH covering 7 chrom. regions and MLPA, the latter covering 4 additional chrom. regions. Median age was 3.7 years (0.5-13 years) and the male:female ratio was 1.4:1. Tumor stage (TS) I presented in 16/31 (51.6%) cases, TS II in 7/31 (22.6%), TS III in 6/31 (19.4%) and TS IV and TS V in 1/31 (3.2%) cases each. Initial SIOP risk was high in 5/31 (16.1%) and intermediate in 26/31 (83.9%) cases. By FISH, 27/31 (87.1%) cases presented at least one genetic alteration, by MLPA 29/31 (93.5%). Either gains or losses in ChrXp, Xq, 4q, 1p and 17p were the most frequent. Considering FISH results 18/31 (58.1%) cases had alterations in 1p and in 17p, 13/31 (41.9%) in 1q, 12/31 (38.7%) in 2p and 11p15.5, 11/31 (35.5%) in 11p13, 10/31 (32.3%) in 16q. Regarding MLPA 23/31 (74.2%) cases had alterations in chr X, 22/31 (71%) in 17p, 20/31 (64.5%) in 4q, 18/31 (58.1%) in 1p, 15/31 (48.4%) in 11p15.5, 13/31 (41.9%) in 2q, 11p13 and 16p, 12/31 (38.7%) in 1q and 2p, 8/31 (25.8%) in 16q. Considering the 7 common chrom. regions analyzed by both techniques, there was full concordance in 2/7 (28.6%) and partial concordance in 5/7 (71.4%) regions. The average sensitivity of FISH was 92.35% and of MLPA was 96.04%. No significant differences were found between SIOP risk or TS, in relation to any individual genetic alterations. Even though MLPA is a high-throughput technique, FISH allows the assessment of the amount of tumoral cells in the context of the tissue architecture. Sensitivity was similar; however, techniques should complement each other for an accurate diagnosis.
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Key Words
MARCADORES MOLECULARESTUMOR DE WILMSNEFROBLASTOMAPACIENTES PEDIATRICOS