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9 Genomic profiling of recurrent “ultra-low risk” endometrial cancer
  1. M Stasenko1,
  2. N Feit2,
  3. S Lee3,
  4. P Selenica3,
  5. RA Soslow3,
  6. KA Cadoo4,
  7. K Alektiar5,
  8. MM Leitao1,
  9. G Gardner1,
  10. N Abu-Rustum R1,
  11. B Weigelt3 and
  12. JJ Mueller1
  1. 1Memorial Sloan Kettering Cancer Center, Gynecology, New York, USA
  2. 2Weill Cornell Medical College, Medicine, New York, USA
  3. 3Memorial Sloan Kettering Cancer Center, Pathology, New York, USA
  4. 4Memorial Sloan Kettering Cancer Center, Medicine, New York, USA
  5. 5Memorial Sloan Kettering Cancer Center, Radiation Oncology, New York, USA


Objectives To characterize the genomic alterations in recurrent low-grade, non-invasive endometrioid endometrial carcinomas (EECs).

Methods We retrospectively identified patients with stage IA EEC who underwent primary surgery at our institution, 2/2009–2/2017, and had follow-up of at least 11 months. “Ultra-low risk” was defined as FIGO grade 1/2, non-invasive, and lymphovascular space invasion-negative. DNA extracted from 36 tumors and matched normal tissue/blood was subjected to massively parallel sequencing targeting over 400 cancer-related genes. Microsatellite instability was assessed via MSIsensor.

Results 499 patients with “ultra-low risk” EEC were identified. 14/499 (2.8%) had a recurrence. Median follow-up for non-recurrent cases was 33.0 months (range, 11–116) and for recurrent 50.5 months (range, 11–116). Recurrent patients were older than non-recurrent patients (p=0.016), and had endometriosis identified during pathologic review of specimen more frequently (p=0.015). Other clinical characteristics did not differ.

Mutational profiling of primary tumors from 8 recurrent and 28 non-recurrent patients revealed that most ultra-low risk EECs were microsatellite-stable (7/8, 88% recurrent; 26/28, 93% non-recurrent). Mutational signatures varied widely with no dominant signature identified among either group. PTEN and PIK3CA were the most frequently mutated genes in both groups. CTNNB1 hotspot mutations were found in 4/8 (50%) recurrent and 9/28 (33%) non-recurrent EECs (p=0.146).

Abstract 9 Figure 1

Mutation Heatmap of “ultra-low risk” endometrial cancers

Conclusions Patients diagnosed with “ultra-low risk” EEC have an excellent prognosis; however, we noted that 2.8% of patients developed a recurrence without identifiable clinical or pathologic risk factors. Genomic profiling did not reveal unique alterations in either group. Further work is needed to elucidate the mechanism/biomarker for recurrence in this “ultra-low risk” population.

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