title: Genetic alterations in poorly differentiated endocrine colon carcinomas developing in tubulo-villous adenomas: a report of two cases.
abstract: The genetic study of two cases of tubulovillous adenoma associated with poorly differentiated endocrine carcinoma (PDEC) is reported. Aim of this work was to assess whether the exocrine and endocrine growths share a common genotype. The analysis entailed the search for allelic loss (LOH) or imbalances of polymorphic microsatellite markers at the corresponding chromosomal loci of the genes MEN-1 (11q13), p53 (17p13). Deleted in Colorectal Carcinoma (DCC) (18q21) and hMSH-2 (BAT26) (2p21-22). Additionally, the exons 5-8 of the p53 gene were sequenced in the two PDECs only. One of the two cases investigated showed LOH for 18q DCC markers in the tubulo-villous adenoma while a point mutation of the p53 gene was observed in the PDEC component. No genetic abnormality was observed in both adenoma and PDEC components of the other case. In the two cases p53 protein accumulation was observed in both PDEC and adenoma cells. These data indicate that only the p53 gene abnormality is shared by both colon cancer and PDEC in the two cases reported. The lack of other common genetic defect may suggest a different histogenesis for the two tumor types. The development of colon PDEC implies the defect of p53 gene.
authors.affiliation: Pathology Service 2 University of Brescia and Spedali Civili, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ubiali
authors.forename: A
authors.initials: A
authors.lastname: Benetti
authors.forename: M
authors.initials: M
authors.lastname: Papotti
authors.forename: V
authors.initials: V
authors.lastname: Villanacci
authors.forename: G
authors.initials: G
authors.lastname: Rindi
mesh_terms: D018253:Adenoma, Villous / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000368:Aged; D018278:Carcinoma, Neuroendocrine / Q000737:chemistry / Q000235:genetics* / Q000556:secondary / Q000601:surgery; D003110:Colonic Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004273:DNA, Neoplasm / Q000032:analysis; D004268:DNA-Binding Proteins; D005260:Female; D016163:Genes, DCC / Q000235:genetics; D016158:Genes, p53 / Q000235:genetics; D006801:Humans; D007124:Immunoenzyme Techniques; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D051718:MutS Homolog 2 Protein; D009378:Neoplasms, Multiple Primary; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein