KIT positive

P=N/A, N=16, Completed, University of Minnesota | Recruiting --> Completed | N=24 --> 16 | Trial completion date: Dec 2025 --> Aug 2025 | Trial primary completion date: Dec 2025 --> Aug 2025

In some cases, targeted therapy with drugs such as imatinib may be used before or after surgery to shrink the tumor or prevent its recurrence...Patient was treated with targeted therapy and surgery that resulted in excellent outcome with prolonged survival. Although esophageal GIST is a rare scenario, outcome in this subset of patients can be improved with the use of targeted therapy that hasten the symptomatic relief and adds to survival benefit.

Mutations were 12 to 39 nucleotide deletion or duplication variants. Our results suggest that short read, amplicon-based NGS assays may miss a significant number of clinically actionable KIT mutations and that follow-up of KIT and PDGFRA NGS-negative cases by alternative testing modalities should be considered.

This case report highlights the AS SS-OCT and IVCM findings in a rare example of COST. Histopathology and immunohistochemistry findings still remain the gold standard for diagnosis.

However, the patient developed omental relapses while on imatinib and progressive disease persisted despite change to sunitinib. Pazopanib as a single agent was then initiated, and patients have continued to respond for the past 7 months. We highlight the significant immunophenotypic heterogeneity in these tumors and perform an extensive review of the literature of this specific entity and broader group of EWSR1::CREM/FUS fusion positive tumors ranging from quasi-benign to malignant and finally we underscore the therapeutic utility of pazopanib as a single agent in this rare group of aggressive sarcomas.

He is currently taking imatinib and is being followed up for 6 months without recurrence. Although diagnosing GIST of small intestine can be difficult, GIST of small intestine with perforation is at high risk of recurrence and rezuires adjuvant chemotherapy. Emergency surgical diagnosis should not be hesitated.

The findings suggest that the methylation markers comprising GynTect® may be suitable for detecting vulvar neoplasia, as they exhibit high sensitivity. Nonetheless, adjustments are needed for comparable specificity. Lichen should be considered in result interpretation, and the kit should be used with caution for patients with lichen. Moreover, we observed methylation changes as an early event with the highest positivity of VLSIL. Surprisingly, changes in methylation pattern are not as local as presumed. Cervical SIL led to changed methylation in the vulva. Patients with positive kit results should be monitored regularly for all genital dysplasia. This sheds new light on the epigenetics in cancer.

We report an additional example of paratesticular EGIST and discuss the diagnostic approach and literature review. Knowledge about this tumor at rare sites and the clinicopathological features are needed for the definitive diagnosis and prognosis.

She recovered appropriately and went on to receive adjuvant imatinib therapy. We describe the progression of this patient's care and review various pertinent therapies for distal rectal GIST, highlighting the transcoccygeal resection as a safe and effective approach.

Patients with NF1 can develop a variety of gastrointestinal lesions. Appendiceal neurofibroma can be difficult to diagnose preoperatively and differentiate from malignancy. Hence, surgical resection should be considered.

This case underscores the necessity of total gastrectomy with lymph node dissection due to the high incidence of metastasis in GISTs associated with Carney's triad. Further research is required to determine the optimal extent of lymph node dissection in such cases.

A complete immunohistochemical workup might help in differentiating ERRTs from other SMARCB1/INI1-deficient soft tissue tumors. The expression of stem cell markers in the presented case also suggests that these tumors might originate from or share similarities with embryonic stem cells or germ cells.