TMP3-NTRK1 rearranged uterine sarcoma: A case report
William Boyle1, Anthony Williams1, Sudha Sundar2
1Birmingham Women's Hospital, Mindelsohn Way, Birmingham B15 2TG, United Kingdom.
Case Reports in Women'S Health
|September 17, 2020
Summary
NTRK gene fusions define a new category of uterine sarcoma, presenting as cervical lesions with fibrosarcoma-like features. Molecular testing is crucial for diagnosis and potential targeted therapy with tropomyosin receptor kinase inhibitors.
Area of Science:
- Oncology
- Gynaecopathology
- Molecular Diagnostics
Background:
- Uterine sarcomas are rare, heterogeneous tumors.
- Advances in molecular characterization reveal novel subtypes.
- NTRK gene fusions define a distinct clinicopathological category.
Observation:
- A case report details a 42-year-old woman with a cervical lesion.
- The tumour exhibited spindle cell morphology with high mitotic activity.
- Immunohistochemistry showed pan-Trk positivity; FISH and NGS identified a TPM3-NTRK1 fusion.
Findings:
- NTRK-rearranged uterine sarcomas are characterized by fibrosarcoma-like features and cytological uniformity.
- Distinguishing these from other sarcomas requires molecular testing (FISH/NGS).
- TPM3-NTRK1 fusion was identified in this cervical sarcoma case.
Implications:
- Identification of NTRK-rearranged uterine sarcomas is crucial for accurate diagnosis.
- These rare tumours have a cervical predilection.
- Tropomyosin receptor kinase inhibitors may offer a treatment option for these specific sarcomas.
More Related Videos
09:40Author Spotlight: Unveiling the Role of TMOD3 in Platinum Resistance and Immune Infiltration in Ovarian Cancer
Published on: August 2, 2024
3.0K
07:50Utilization of Ultrasound Guided Tissue-directed Cellular Implantation for the Establishment of Biologically Relevant Metastatic Tumor Xenografts
Published on: May 25, 2018
8.7K