Mast Cell Leukemia

P=N/A, N=153, Active, not recruiting, City of Hope Medical Center | Trial completion date: Dec 2025 --> Dec 2026

Targeted therapy with avapritinib and ruxolitinib was initiated but yielded limited response. Given the consistent co-occurrence of KIT mutations in previously reported similar cases, we propose the recognition of a distinct disease entity: ovarian germ cell tumor/mastocytosis with KIT mutations. This report emphasizes the importance of early genetic profiling and multidisciplinary collaboration in diagnosing and managing rare, genetically unified malignancies in pediatric oncology.

Notably, 47% of patients received previous midostaurin. AdvSM subtype, the presence and number of additional comutated genes beyond KIT D816V, BM mast cell burden, and KIT D816V variant allele fraction were associated with the presence and/or number of WHO/mIWG organ damage findings. Our study provides a snapshot of the correlates of organ damage in patients enrolled in clinical trials of avapritinib and identifies a key association between molecular profile and burden of organ damage.

First-line symptomatic therapy (H1/H2 antihistamines ± montelukast) was administered to 77% of patients, while four patients with advanced disease received midostaurin treatment. Immunophenotyping confirmed aberrant expression of CD2 and CD25 in all eight analyzed cases. This first national series from Romania underscores the predominance of indolent SM and the clinical burden of organ involvement, reinforcing the need for early diagnosis and personalized, risk-adapted therapeutic approaches.

These variations include SRFS2-p95, biallelic (double) TET2 or a TET2 mutation combined with an SRSF2 variation to identify chronic myelomonocytic leukemia associated with SM. Additional diagnostic issues included disease progression in the SM or the AMN component, the distinction between SM-AMN and acute myeloid leukemia with partial mast cell differentiation (aka, myelomastocytic leukemia), and rare types of disease proliferations occurring in SM-AMN.

The patient is recovering well as of February 2025, just 7 months after the first diagnosis, following surgery and 16 weeks of chemotherapy with a combination of prednisolone and vinblastine, considering the C-kit PCR results of the left inguinal lymph node after the surgical removal of the MCT. This report is significant for two reasons, firstly because of the rarity of MCTs originating from lymph nodes other than the skin and gastrointestinal organs, and secondly because the authors propose a hypothesis for the rarity of primary lymph node mast cell tumors and the correlation between mammary gland tumors and mast cell tumor growth based on a comparative literature review in humans, focusing on molecular mechanisms.

We present a case of a 74-year-old Chinese female with primary acute MCL who exhibited different responses to dexamethasone and methylprednisolone...Initial treatment included corticosteroids and dasatinib...This case underscores the importance of personalized treatment approaches in MCL, considering the distinct genetic profile and differential therapeutic responses to corticosteroids. Further research is needed to elucidate the mechanisms underlying these responses and to optimize treatment strategies for MCL.

P=N/A, N=153, Active, not recruiting, City of Hope Medical Center | Completed --> Active, not recruiting | Trial completion date: Dec 2013 --> Dec 2025

P=N/A, N=153, Completed, City of Hope Medical Center | Active, not recruiting --> Completed

The addition of mutational information into the multivariable model resulted in ousting anemia and inclusion of ASXL1 (p < 0.01), SRSF2 (p = 0.01), and NRAS (p = 0.01) mutations as additional risk factors. Classification of SM by ICC is prognostically more accurate, compared to WHO-HAEM5, and strengthens the prognostic contribution of morphology to current clinical and molecular risk models.

P=N/A, N=153, Active, not recruiting, City of Hope Medical Center | Completed --> Active, not recruiting | Trial completion date: Dec 2013 --> Dec 2025