Previously unidentified complex cytogenetic changes found in a pediatric case of solid-pseudopapillary neoplasm of the pancreas

摘要: Solid pseudopapillary neoplasm of the pancreas (SPNP) is a rare tumor with low malignant potential found in adolescent girls and young women. The pathogenesis SPNP remains uncertain its management controversial. Genetic changes associated have seldom been reported. We describe here cytogenetic investigation case 13-year-old girl whose cells revealed two unrelated clones: one clone characterized by complex karyotypic changes, including breakpoints common fragile sites at chromosome 2, band q33, 4, q31, second defined partial monosomy for X. Loss heterozygosity HRAS was also identified array comparative genomic hybridization (a-CGH). These cumulative seem insufficient activation cell transformation, but could possibly play role priming future mutagenic events.