EML4–NTRK3 Fusion Cervical Sarcoma: A Case Report and Literature Review

Abstract

The concept of neurotrophic factor tyrosine kinase receptor (NTRK) fusion tumor has emerged in recent years. Moreover, NTRK fusion is unusual in common tumors but can often be identified in rare tumors. The NTRK fusion cervical or uterine tumors are mainly recognized through case reports due to their extremely low incidence. In this study, we reported a new case of EML4–NTRK3 fusion cervical sarcoma to enhance its recognition. To the best of our knowledge, this is the first case from a Chinese institution. We also conducted a literature review, in which a total of 19 cases of NTRK fusion cervical tumors and 4 cases of uterine tumors were retrieved. We summarized the clinicopathological features, treatment methods, and prognosis of these cases. Based on available information, we observed that surgery and complete excision, if possible, are still the primary modes of therapy. In addition, an increasing number of studies have shown that tropomyosin receptor kinases (TRK) inhibitors can improve the prognosis of cancer patients with NTRK gene fusion, which gives a silver lining for patients with metastatic lesions. We found that age and mitotic rate may be associated with recurrence or metastasis by univariate survival analysis. To draw more convincing conclusions, there is a need to establish an international database of rare cases and aggregate these sporadic cases.

NTRK rearranged spindle cell neoplasm of the uterine cervix: a rare case report and literature review

“…Wong et al [14] . (2020) Dang X et al [17] . (2022) Xiaoqi Li [18] (2023) NTRK rearrangement sarcoma is a spindle cell tumor originating from the uterus, with a mean age of onset of 35 years (23-60 years), of which 85% occur in the cervix, with a mean tumor diameter of 6.9 cm (1.5-23.0 cm) [11].…”

“…Finally, substandard FISH assay samples may also lead to NTRK3 false negatives. The types of gene rearrangements currently reported in the existing literature include TPM3-NTRK1[6, 8-10, 15], TPR-NTRK1[6, 9, 16], LMNA-NTRK1[6], EML4-NTRK3 [15,17,18], RBPMS-NTRK3[6], STRN-NTRK3 [19], SPECC1L-NTRK3 [9,20,21], DLG2-NTRK2 [22], etc., and among them, the most common type is TPM3-NTRK1 (11/23).…”

Microwave ablation for painful chest wall metastases from gastrointestinal stromal tumor: a case report

“…A variety of factors, including the patient’s physical condition and the number, location, and size of metastases, may impede the application of surgery. Radiotherapy provides pain alleviation for approximately 60% of patients, but it is not commonly used for GIST due to their general resistance to normal radiation doses applied to sarcomas ( 12 ). Furthermore, radiotherapy results in adverse effects such as radiation pneumonia, cardiac damage, and second malignancy, the occurrence of which is positively connected with radiation dose ( 13 ).…”

Uterine Sarcoma With EML4::NTRK3 Fusion: A Spectrum of Mesenchymal Neoplasms Harboring Actionable Gene Fusions

“…Although many partners have been described with NTRK family genes, this list continues to expand (6). In this regard, we report a case of uterine sarcoma with a rare EML4::NTRK3 fusion, described in 3 other uterine cases (6)(7)(8) and also recognized in pediatric soft tissue tumors (9).…”