Comprehensive genomic profiling may inform rare targeted therapy opportunities and should include NTRK, MSI, and TMB. NCCN guidelines advise that NTRK gene fusion testing should be considered for metastatic or recurrent endometrial carcinoma. NTRK-rearranged sarcomas typically present with stage I disease, and about one third recur or metastasize. Targeted therapy against TKIs has shown clinical benefit against this type of endometrial cancer.
More generally, the initial evaluation of a patient with suspected endometrial cancer should comprise a complete blood cell count, and prothrombin time and partial thromboplastin time in patients with heavy bleeding. Endometrial biopsy may not be accurate for diagnosing malignancies of the uterine wall. While Pap smears are not an essential component of the evaluation, a Pap smear result may in some cases suggest endometrial cancer (ie, presence of atypical glandular cells).
Finally, recurrent tumors should be tested for MSI-H or dMMR if not performed earlier.
In the present case, NTRK gene fusion testing is negative. Immunochemical stains showed that the neoplastic cells were negative for ER.
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Cite this: Pamela Soliman. Skill Checkup: A Woman With Increasing Abdominal Pain, Nausea, Vomiting, and Ascites - Medscape - Apr 21, 2022.