The effect of first chromosome long arm duplication on survival of endometrial carcinoma

Sever, Erman; Döğer, Emek; Çakıroğlu, Yiğit; Sünnetçi, Deniz; Çine, Naci; Savlı, Hakan; Yücesoy, İzzet

doi:10.4274/tjod.05617

Cited by 1 publication

(1 citation statement)

References 18 publications

(32 reference statements)

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“…3A). Sever et al (45) also reported that gains in 1q had a negative impact on survival in EC patients. In addition, aberrations in 1q have also been described in Müllerian tumors of mesonephric type, though neither of our cases showed histologic features of this tumor type, despite the fact that case 4 also harbored KRAS mutation, a finding also documented in a high percentage of mesonephric carcinomas (46)(47)(48).…”

Section: Discussionmentioning

confidence: 97%

Molecular Evaluation of Low-grade Low-stage Endometrial Cancer With and Without Recurrence

Matrai

Ohara

Eng

et al. 2021

International Journal of Gynecological Pathology

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Low-grade, low-stage endometrioid carcinomas (LGLS EC) demonstrate 5-yr survival rates up to 95%. However, a small subset of these tumors recur, and little is known about prognostic markers or established mutation profiles associated with recurrence. The goal of the current study was to identify the molecular profiles of the primary carcinomas and the genomic differences between primary tumors and subsequent recurrences. Four cases of LGLS EC with recurrence and 8 cases without recurrence were evaluated via whole-exome sequencing. Three of the 4 recurrent tumors were evaluated via Oncomine Comprehensive Assay. The resulting molecular profiles of the primary and recurrent tumors were compared. Two of the 3 recurrent cases showed additional mutations in the recurrence. One recurrent tumor included an additional TP53 mutation and the other recurrent tumor showed POLE and DDR2 kinase gene mutation. The POLE mutation occurred outside the exonuclease domain. PIK3CA mutations were detected in 4 of 4 primary LGLS EC with recurrence and in 3 of 8 disease-free cases. LGLS EC with recurrence showed higher MSIsensor scores compared with LGLS without recurrence. The level of copy number gains in LGLS EC with recurrence was larger than LGLS EC without recurrence. This pilot study showed 1 of 3 recurrent cases gained a mutation associated with genetic instability (TP53) and 1 of them also acquired a mutation in the DDR2 kinase, a potential therapeutic target. We also noted a higher level of copy number gains, MSIsensor scores and PIK3CA mutations in the primary tumors that later recurred.

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