KIT mutation

While imatinib revolutionized first-line therapy, resistance and specific mutation profiles necessitate subsequent generations of tyrosine kinase inhibitors (TKIs). Second- and third-generation TKIs have transformed the management of advanced GIST, extending survival and offering mutation-specific precision therapy. Ongoing research into resistance mechanisms, combination strategies, and novel inhibitors promises further optimization of patient-centered care.

Furthermore, patients with high serum IgG levels experienced significant therapeutic benefits. Our data show that local adaptive immunity dominated by TLS is a key factor in the efficacy of targeted therapy, and suggest that inducing IgG could be a feasible strategy for improving the prognosis of patients with GIST.

The overall survival of MDS patients with ASXL1mut is poor. The patients with p.Gly646fs sequence mutation have a higher proportion of bone marrow blasts and a worse prognosis. There are no statistical differences in efficacy of different treatment strategies in ASXL1mut group. ASXL1 mutation shows no significant effect on the response of MDS to hypomethylating agent therapy.

Western blot and qRT-PCR tests validated these genes in GIST-T1 cells, and ssGSEA analysis indicated a significant relationship between these hub genes and immune cell infiltration. This study revealed a set of novel signature genes with high diagnostic value, offering promising targets for the diagnosis and treatment of GIST.

In patients with CBF-AML, the addition of dasatinib to intensive chemotherapy failed to improve survival outcomes. The addition of dasatinib was associated with an increase in toxicity. This trial was registered at www.

Vaginal and vulvar melanoma have a poor prognosis. Extensive surgery with anterior or posterior pelvectomy shoud only be performed to obtained free margin with caution in well selected patient. Radiological lymph node should contraindicate primary surgical strategy. Neodjuvant immunotherapy could help to obtained free margin in patient with high risk of invaded margin, these patients should be included in randomized controlled clinical trials.

It suggests that avapritinib may bridge therapeutic gaps for atypical KIT-mutant systemic mastocytosis with associated hematologic neoplasm (SM-AHN) that is ineligible for Allo-HSCT or relapsed. Prospective trials are warranted to validate its efficacy, optimize dosing, and explore synergies with Allo-HSCT, offering new strategies for these high-risk patients.

First-generation sequencing identified concurrent mutations in c-KIT exons 11 (V560D) and exon 17 (N822K), implicating these double mutations in acquired imatinib resistance. This case underscores the clinical significance of double mutations in GIST, the limitations of first-line therapy in such contexts, and the importance of early genetic profiling to inform personalized treatment strategies.

HNSCC after HSCT typically develops after prolonged latency and shows favorable outcomes with curative therapy. However, recurrence is marked by rapid progression and poor systemic treatment response, underscoring the prognostic relevance of chronic GVHD and the need for novel therapeutic strategies.

KIT exon 17 mutational status and treatment protocol was identified as independent prognostic factors for OS and EFS in CBF-AML and RUNX1::RUNX1T1-AML. Our study found that prospective evaluation of KIT mutations is crucial in pediatric CBF-AML, particularly in RUNX1::RUNX1T1 patients, where the survival can be significantly improved by high-risk chemotherapy and hematopoietic stem cell transplantation.

This case report highlights the importance of combining clinical and laboratory findings, hematopathology, and molecular analyses to establish the most probable diagnosis in challenging cases. It also underscores the possible relevance of identifying predisposing conditions, such as CHIP, in order to guide counseling and follow-up strategy.

The authors review the pathogenesis, classification, and imaging features of mastocytosis, highlighting multiorgan involvement and potential diagnostic mimics of mastocytosis.