Novel TP53 gene mutation and correlation with p53 immunohistochemistry in a mixed epithelial carcinoma of the endometrium

Sholl, Andrew B.; Aisner, Dara L.; Behbakht, Kian; Post, Miriam D.

doi:10.1016/j.gynor.2012.10.005

Cited by 4 publications

(2 citation statements)

References 8 publications

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“…Analysis of a low-hypodiploid xenograft containing the p.Arg306 Ã mutation identified elevated TP53 expression (Holmfeldt et al 2013). This mutation was also identified in a case of endometrioid adenocarcinoma, in which the mutation was present only within the serous component of a mixed epithelial carcinoma, and was accompanied by elevated TP53 expression in serous, but not endometrioid cells in the tumor (Sholl et al 2012). Moreover, the p.Gly302fs HYPO052) that was originally reported as an aberrantly spliced isoform was later found to contain an 8.7-kb focal deletion of exon 2 -exon 5 on deeper sequencing analysis (Holmfeldt et al 2013).…”

Section: Tp53 Alterations In Hypodiploid Allmentioning

confidence: 76%

TP53Mutations in Hypodiploid Acute Lymphoblastic Leukemia

Comeaux

Mullighan

2016

Cold Spring Harb Perspect Med

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Acute lymphoblastic leukemia (ALL) is an aggressive neoplasm of B- or T-lymphoid progenitors and is the commonest childhood tumor. ALL comprises multiple subtypes characterized by distinct genetic alterations, with stereotyped patterns of aneuploidy present in many cases. Although alterations of are common in many tumors, they are infrequent in ALL, with the exception of two ALL subtypes associated with poor outcome: relapsed disease and ALL with hypodiploidy. alterations are present in almost all cases of ALL with low hypodiploidy and are associated with alterations of the lymphoid transcription factor and the tumor-suppressor gene loci and Remarkably, more than half of mutations in low-hypodiploid ALL in children are present in nontumor cells, indicating that low-hypodiploid ALL is a manifestation of Li-Fraumeni syndrome. These findings have profound implications for our understanding of the genetic pathogenesis of hypodiploid ALL, suggesting that alteration of TP53 function may promote the distinctive aneuploidy characteristic of hypodiploid ALL. Moreover, the identification of hypodiploidy mandates offering testing for mutational status to patients and their relatives, with appropriate counseling and disease surveillance.

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Section: Tp53 Alterations In Hypodiploid Allmentioning

confidence: 76%

TP53Mutations in Hypodiploid Acute Lymphoblastic Leukemia

Comeaux

Mullighan

2016

Cold Spring Harb Perspect Med

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“…It has been demonstrated that the prognosis gets worse even in the existence of very small amounts of type 2 components in stage 1 endometrial cancer and should be considered as high grade 17 . In addition to studies showing that the prognosis for the presence of a serous component is similar to pure serous carcinomas 8,18 , there are studies showing that prognosis of the MECs are better than that of pure serous carcinomas [14][15][16]19,20 . Rossi et al 20 drew attention to the high grade of endometrioid component for MEC in their study and suggested that they were likely to be considered more as pure type II carcinomas than MEC.…”

Section: Discussionmentioning

confidence: 99%

Miks endometriyal karsinomun klinik ve patolojik özelliklerinin tersiyer bir merkezde değerlendirilmesi

Sucu

Geckil

Akçabay

et al. 2021

Cukurova Medical Journal

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The aim of this study was to evaluate the clinical and pathological characteristics of mixed endometrial carcinoma (MEC). Materials and Methods: The clinical and pathological records of the 29 MEC patients, who were operated on and regularly followed up in the clinic between January 2000 and December 2019, were reviewed. Clinicpathologic features and survival in the MEC group (n=29) were compared to pure serous (n=42) and pure clear cell adenocarcinomas (n=13). Clinical features, operation characteristics, pathological findings, myometrial invasion degree (MI), lymph node involvement (LNI), lymphovascular space invasion (LVSI), adjuvant therapies, and follow-up data of the patients and their effects on survival were investigated. Results: Eighteen of the cases had endometrioid + serous, 7 had endometrioid + clear, 3 had endometrioid + serous, and 1 had clear + serous histopathology. Laparoscopic surgery was performed in 8 of the cases (27.6%) in the mixed group. Stage, the rate of LVSI, LNI, MI ≥50%, and omental metastasis were similar among the groups. There were no significant differences in the rates of receiving adjuvant therapy among the groups. Overall survive (OS) was similar among the groups. Conclusion: MECs are tumors that can be difficult to diagnose and manage. There was no difference between MEC and pure serous carcinoma (SC) and pure clear cell carcinoma (CC) in terms of clinicopathological features and prognosis. In addition to histopathological features, revealing and evaluating their molecular properties will help us to better understand this group of tumors.

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