An unusual case of a patient with ovarian carcinoma carrying the p53 point mutation in both metastases (omentum and lymph node), but not in the primary tumor, is described. The presence of a p53 single mutation (G:A) at the second base of codon 248 was examined by polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) analysis. This case was examined also by fluorescent in situ hybrization (FISH) analysis and flow cytometry (FCM) to obtain further information at the single cell level and to detect heterogeneity within a population of cells. FCM analysis evidenced the same multiple aneuploid cell subpopulations in primary and in metastatic samples showing the presence of a cellular heterogeneity. FISH analysis showed a disomic condition for the 17 chromosome in the primary and in one metastasis, while in the other metastasis a monosomic together with a disomic subpopulation was revealed. Our results confirm the independent clonal evolution of the metastasis. The late mutation event observed only in metastatic specimens suggests the hypothesis that in the primary tumor the wild-type gene either does not perform its control role for unknown genetic structural events or the p53 gene in this case does not play a critical role in carcinogenesis.

Calugi, A., Eleuteri, P., Cavallo, D., Naso, G., ALBONICI BOVE, L., Lombardi, M., et al. (1996). Detection of cellular heterogeneity by DNA ploidy, 17 chromosome, and p53 gene in primary carcinoma and metastasis in a case of ovarian cancer. INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY, 15(1), 77-81.

Detection of cellular heterogeneity by DNA ploidy, 17 chromosome, and p53 gene in primary carcinoma and metastasis in a case of ovarian cancer

CALUGI, ALBERTO;ALBONICI BOVE, LOREDANA;MANZARI, VITTORIO;ROMANINI, CARLO;
1996-01-01

Abstract

An unusual case of a patient with ovarian carcinoma carrying the p53 point mutation in both metastases (omentum and lymph node), but not in the primary tumor, is described. The presence of a p53 single mutation (G:A) at the second base of codon 248 was examined by polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) analysis. This case was examined also by fluorescent in situ hybrization (FISH) analysis and flow cytometry (FCM) to obtain further information at the single cell level and to detect heterogeneity within a population of cells. FCM analysis evidenced the same multiple aneuploid cell subpopulations in primary and in metastatic samples showing the presence of a cellular heterogeneity. FISH analysis showed a disomic condition for the 17 chromosome in the primary and in one metastasis, while in the other metastasis a monosomic together with a disomic subpopulation was revealed. Our results confirm the independent clonal evolution of the metastasis. The late mutation event observed only in metastatic specimens suggests the hypothesis that in the primary tumor the wild-type gene either does not perform its control role for unknown genetic structural events or the p53 gene in this case does not play a critical role in carcinogenesis.
gen-1996
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/04 - PATOLOGIA GENERALE
English
Omentum; Electrophoresis, Agar Gel; In Situ Hybridization, Fluorescence; Female; Chromosomes, Human, Pair 17; Base Sequence; Lymphatic Metastasis; Genes, p53; Humans; DNA, Neoplasm; Flow Cytometry; Ovarian Neoplasms; Ploidies; Polymerase Chain Reaction; Point Mutation; Peritoneal Neoplasms; Molecular Sequence Data
Calugi, A., Eleuteri, P., Cavallo, D., Naso, G., ALBONICI BOVE, L., Lombardi, M., et al. (1996). Detection of cellular heterogeneity by DNA ploidy, 17 chromosome, and p53 gene in primary carcinoma and metastasis in a case of ovarian cancer. INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY, 15(1), 77-81.
Calugi, A; Eleuteri, P; Cavallo, D; Naso, G; ALBONICI BOVE, L; Lombardi, M; Manzari, V; Romanini, C; Devita, R
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/14904
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