KIT positive

P1, N=68, Completed, M.D. Anderson Cancer Center | Active, not recruiting --> Completed

She was discharged 45 days after first operation. Currently, 9 months after the operation, patient has been prescribed imatinib and is alive without recurrence.

The pattern of tumor recurrence noted in the present case(ie, metastasis/dissemination to the skeletal muscles)is relatively rare, and few reports have been published concerning long-term survivors through multidisciplinary treatment (surgical treatment and others). We report this case with a review of the literature.

While SM can have a variety of clinical manifestations, including elevated tryptase level and mediator release symptoms, the presence of KIT D816V in the peripheral blood is a strong predictor of SM diagnosis. Persistently elevated serum tryptase without the KIT D816V mutation may suggest the likelihood of HaT, while only mediator release symptoms with normal serum tryptase and without the KIT mutation is a strong negative predictor of SM and HaT.

Despite the limitations of retrospective data analysis, the data from this large multicenter cohort of patients with HES due to a chronic myeloid neoplasm suggest that routine demographic, clinical and laboratory features vary depending on the underlying molecular abnormality. This approach could ultimately help guide empiric therapy when molecular studies are negative or unavailable.

In conclusion, this study provides the first evidence for an in vivo effect of TASQ in a murine model of MDS, suggesting improved erythropoiesis and positive effects on the bone phenotype. These results warrant further investigations of TASQ in human trials, particularly in MDS patients in whom anemia and bone loss often coexist.

P4, N=60, Not yet recruiting, Washington D.C. Veterans Affairs Medical Center

P=N/A, N=1200, Recruiting, University of Nebraska | Not yet recruiting --> Recruiting

The six novel mutations reported in the present study expand our knowledge on the molecular pathogenesis of melanoma, which can be used to further explore methods to improve disease therapeutic strategies.

Regorafenib in second- or later-line settings demonstrated significant activity in patients with metastatic melanoma harbouring c-KIT mutations.

After PR induction, TOC alone mediated survival for 205 days. This case report suggests that the combination of TOC and possibly firocoxib may be a therapeutic option for canine intranasal sarcoma.

P1, N=68, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting

Pre-operative control of bleeding by IR-guided embolization was a life-saving measure. Surgical resection is the preferred approach for localized tumors > 2 cm or with high-risk features, especially the ones presenting as emergencies.

The patient started Imatinib and remained on it for 4 years...Figure: Panel A shows neurofibromas on the abdomen in our patient. Panel B and C are CT scan images with arrows pointing to the jejunal gastrointestinal stromal tumor.

She received adjuvant chemotherapy with Imatinib and has remained symptom-free 10 months post-op...B : CTA Abdomen (coronal view) showing the hypervascular lesion in the proximal Jejunum. C : Jejunal tumor seen with uniformly shaped spindle cells with elongated nuclei, consistent with GIST D : Positive CD117 immunostaining of the GIST lesion.

Although imatinib accumulates in tumour tissue, no distribution pattern of imatinib in tumour tissue could be identified. There was no correlation between imatinib concentrations in tumour tissue and pathological treatment response.

GIST are more frequently located in the stomach and they are positive for c-kit. MSCH are not associated with hereditary syndromes such as neurofibromatosis and, in contrast with Schwanomas or GIST, they do not require surveillance because they are benign.

According to the risk classification, the risk was evaluated as low. The patient is being followed-up in accordance with guidelines.

Prognostic data on mixed tumors are scarce; however, given the aggressive nature of ACC, attention should be paid to the detection of mixed tumors. Since ABC and ACC histology may overlap, adequate sampling and IHC for detecting ACC would be helpful.

Although HMGA1 might have little effect on normal hematogenesis, it seemed that HMGA1 had inhibitory effect on ATRA-induced differentiation process of MLL-ENL leukemic cells. Though more conditions including AML types and differentiation methods should be tested and the molecular mechanisms should be scrutinized, there is a possibility that inhibition of HMGA1 is effective in combination with differentiation treatments.

Extraosseous Ewing’s Sarcoma/Peripheral Primitive Neuroectodermal Tumors are aggressive, malignant tumors that can be found in various organs and soft tissues throughout the body, but extremely rarely in the pancreas. The “gold standard” for diagnosis is a molecular genetics evaluation for a chromosomal translocation between the EWSR1 gene on chromosome 22 and usually a ETS gene on chromosome 11, but other genes may be involved in about 10% of patients. Treatment is multimodal, based on the NCCN guidelines for soft tissue sarcomas, and involves surgical resection, systemic chemotherapy and/or radiation.

Method Patients with de-novo CBFL received standard induction therapy with an anthracycline containing regimen ("7+3"-like) + Mido, three cycles of post-remission consolidation chemotherapy with high-dose cytarabine + Mido, and 12 months of Mido as Maintenance. Conclusion In patients with CBFL, we found FLT3 and/or KIT mutations actionable by a regimen consisting of intensive chemotherapy and Mido in 47% of cases. In two out of three relapsed cases the KIT mutation is maintained, although frequency of the mutant allele is lower at relapse, while all FLT3 and NRAS mutated patients lose the mutation upon disease relapse.

Patients with a history of prior TKI therapy (e.g., avapritinib, midostaurin) are permitted in the study. Early data suggest that bezuclastinib is well-tolerated and is associated with encouraging early signs of clinical activity as demonstrated by meaningful reductions in serum tryptase, MC burden, and KIT D816V VAF. Enrollment is currently ongoing. Updated safety and clinical activity as well as initial clinical objective response data will be presented.

They do not recur after excision, and given their benign nature, do not require surveillance after polypectomy. Figure: Figure 1 A. Colonoscopy showing a 2-mm sessile rectosigmoid polyp, confirmed as a perineurioma on pathology B. Closer image of the same perineurioma, visualized using Narrow Band Imaging (NBI)

BackgroundC-KIT mutation is a therapeutic target for malignant melanoma, and C-KIT inhibitors such as imatinib have previously shown clinical efficacy. Further biomarker studies with circulating tumor DNA analysis are currently underway. No

rhSCF is a convenient and effective vector for drug delivery to KIT positive GIST cells. SCF-DM1 is an effective drug candidate to treat imatinib-sensitive and -resistant GIST.

Extraluminal duodenal gastrointestinal stromal tumors are rare and mimic pancreatic neuroendocrine tumors. Endoscopic ultrasound fine-needle aspiration is useful for preoperative diagnosis, but it is not possible in some cases. Intraoperative diagnosis based on a completely resected specimen of the tumor may be useful for modifying the surgical technique.

P1, N=96, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Feb 2022 --> Feb 2024 | Trial primary completion date: Feb 2022 --> Feb 2024

Hybrid surgical procedure utilizing mediastino-laparoscopy might be useful for high-risk patient with esophageal tumors.

C-kit is the most suitable marker in the research of telocytes in the FRS. The loss of telocytes in the myometrium may have a role in the pathogenesis of uterine fibroids via three mechanisms: 1) hormonal imbalance, 2) stem cell dysregulation and 3) diminished angiogenesis. Therefore, therapeutic targeting of telocytes can be a potential future approach in the treatment of this condition.

Background: The genotype of primary mutations predicts imatinib response in untreated metastatic GIST...Regorafenib showed similar activity regardless of KIT mutational status and the location of KIT mutation... Hybrid capture-based plasma sequencing detects ctDNA in the majority of patients with advanced TKI-resistant GIST, including heterogeneity of KIT mutations. This study is the first to show that ctDNA sequencing correlates with outcomes in pretreated GIST. Identification of ABP (exon13/14) KIT mutations negatively correlates with avapritinib activity.

The histopathological diagnosis was low-grade GIST and immunostaining showed the tumor was positive for c-kit, CD34, DOG-1 and α-SMA. Because capsule of the GIST was damaged intraoperatively, imatinib therapy was started and she has no recurrence after 2 years.

The other two patients underwent total body irradiation (TBI) and received cyclophosphamide (CTX) and antilymphocyte globulin (ATG) regimens. Cyclosporine or tacrolimus, mycophenolate mofeil and short-course methorexate were the most frequently administrated graft versus-host disease (GVHD) prophylaxis regimens... Allo-HSCT is an effective therapy among high-risk CBF-AML pediatric patients positive for the RUNX1-RUNX1T1 fusion gene. However, we found that an additional D816 c-KIT mutation is strongly associated with a poor prognosis among these pediatric AML patients.

The patient was diagnosed with very low risk gastrointestinal stromal tumor(GIST). We encountered a rare case of early sigmoid colon cancer, complicated by sigmoid colon GIST.

Histopathologically, there were no viable tumor cells in the resected specimen. The patient has no evidence of recurrence at 8 months post operation.

Our results indicate that Paneth cells contribute to the initial steps of cancer progression by providing the stem cell niche to adenoma cells, which could be therapeutically exploited.

P2, N=122, Recruiting, First Affiliated Hospital of Zhejiang University | Not yet recruiting --> Recruiting

On multivariate analysis, only loss of CD177 expression was significantly higher in MDS group (P = .014). These findings suggest that a panel of immunohistochemical stains could serve as an adjunct tool in investigating unexplained cytopenias and warrant further comparative studies with flow cytometry.