Mutation of TP53 gene is involved in carcinogenesis of hepatic undifferentiated (embryonal) sarcoma of the adult, in contrast with Wnt or telomerase pathways: an immunohistochemical study of three cases with genomic relation in two cases

Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review

“…A missense mutation R248W of the remaining allele was found. To our knowledge, this is the fourth UESL case reported to carry the TP53 gene mutation [10,11]. This particular mutation, as a somatic or germline change, has been reported in a variety of solid tumors [16].…”

“…Using DNA sequencing analysis, the breakpoint of the translocation t(11;19) on 11q was detected in the MALAT1 gene, i.e., the MALAT1 gene was rearranged at t(11;19) [9]. Point mutations of the TP53 gene were also detected in three UESL cases [10,11]. To our knowledge, we are the first to use high-resolution array-CGH analysis (aCGH) to detect more subtle segmental genomic imbalances, which were followed by fluorescence in situ hybridization (FISH) to confirm some of the selected anomalies identified by aCGH.…”

Childhood undifferentiated embryonal liver sarcoma: clinical features and immunohistochemistry analysis

“…Although it may originate from the same primary mesenchymal cells, ultrastructural and immunohistochemical studies in some cases have shown that it could also have a diverse histogenesis [7,14]. Several cytogenetic abnormalities, including TP53 mutation, chromosome 19q, 7q, and so on, have been investigated for the histogenesis of this tumor [15][16][17][18].…”

Sarcoma indiferenciado (embrionário) do fígado: relato de caso e revisão da literatura

“…Na literatura são descritas algumas variedades de alterações cromossômicas envolvidas na patogênese da neoplasia, mas ainda não há uma anormalidade genética específica (19) . Estudos recentes enfatizam a possibilidade do envolvimento de genes específicos, como o Tp53, no desenvolvimento do sarcoma embrionário (11) . O sarcoma embrionário é considerado uma neoplasia agressiva e de prognóstico desfavorável, com sobrevida de 1 a 2 anos.…”