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CANCER:

Mast Cell Leukemia

3ms
Real-world characteristics of systemic mastocytosis in Romania: insights from a reference-center-based descriptive study. (PubMed, J Med Life)
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.
Observational data • Retrospective data • Journal • Real-world evidence
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • IL2RA (Interleukin 2 receptor, alpha) • CD2 (CD2 Molecule) • ISG20 (Interferon Stimulated Exonuclease Gene 20)
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KIT mutation
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midostaurin
4ms
Systemic mastocytosis with an associated myeloid neoplasm: Report from the XVI European Bone Marrow Working Group Course and Workshop, Barcelona 2023. (PubMed, Am J Clin Pathol)
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.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2)
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KIT mutation • TET2 mutation • SRSF2 mutation
4ms
The First Case Report of a Primary Mast Cell Tumor Originating from the Inguinal Lymph Node in a Nine-Year-Old Female Maltese Dog and a Comparative Literature Review in Humans. (PubMed, Life (Basel))
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.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase)
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vinblastine
5ms
Case report: Experience of a rare case of primary acute mast cell leukemia. (PubMed, Leuk Res Rep)
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.
Journal
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TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • DNMT3A (DNA methyltransferase 1) • IL2RA (Interleukin 2 receptor, alpha) • CD33 (CD33 Molecule) • CD4 (CD4 Molecule) • NCAM1 (Neural cell adhesion molecule 1) • CD9 (CD9 Molecule) • CD2 (CD2 Molecule) • ANPEP (Alanyl Aminopeptidase, Membrane) • CD81 (CD81 Molecule) • ISG20 (Interferon Stimulated Exonuclease Gene 20)
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TP53 mutation • NRAS mutation
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dasatinib
5ms
Infection Prophylaxis and Management in Treating Cytomegalovirus (CMV) Infection in Patients With Hematologic Malignancies Previously Treated With Donor Stem Cell Transplant (clinicaltrials.gov)
P=N/A, N=153, Active, not recruiting, City of Hope Medical Center | Completed --> Active, not recruiting | Trial completion date: Dec 2013 --> Dec 2025
Enrollment closed • Trial completion date
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Valcyte (valganciclovir)
5ms
Trial completion
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Valcyte (valganciclovir)
5ms
Systemic Mastocytosis in 910 Patients: Prognostic Contribution of the International Consensus Classification in the Context of the Mayo Alliance Prognostic System. (PubMed, Am J Hematol)
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.
Journal
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NRAS (Neuroblastoma RAS viral oncogene homolog) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2)
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NRAS mutation • SRSF2 mutation
5ms
Infection Prophylaxis and Management in Treating Cytomegalovirus (CMV) Infection in Patients With Hematologic Malignancies Previously Treated With Donor Stem Cell Transplant (clinicaltrials.gov)
P=N/A, N=153, Active, not recruiting, City of Hope Medical Center | Completed --> Active, not recruiting | Trial completion date: Dec 2013 --> Dec 2025
Enrollment closed • Trial completion date
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Valcyte (valganciclovir)
7ms
(PATHFINDER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis (clinicaltrials.gov)
P2, N=107, Completed, Blueprint Medicines Corporation | Active, not recruiting --> Completed | Trial completion date: Jan 2026 --> Dec 2024 | Trial primary completion date: Jan 2026 --> Dec 2024
Trial completion • Trial completion date • Trial primary completion date • Tumor mutational burden
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Ayvakit (avapritinib)
7ms
NCI-2018-01752: Naive T Cell Depletion for Preventing Chronic Graft-versus-Host Disease in Children and Young Adults With Blood Cancers Undergoing Donor Stem Cell Transplant (clinicaltrials.gov)
P2, N=68, Recruiting, Fred Hutchinson Cancer Center | Trial completion date: Dec 2025 --> Dec 2027 | Trial primary completion date: Dec 2025 --> Dec 2027
Trial completion date • Trial primary completion date
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HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • HLA-B (Major Histocompatibility Complex, Class I, B) • HLA-C (Major Histocompatibility Complex, Class I, C)
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cyclophosphamide • methotrexate • fludarabine IV • thiotepa • busulfan • methotrexate IV
8ms
AZURE: Study of Elenestinib (BLU-263) in Advanced Systemic Mastocytosis (AdvSM) and and Other KIT Altered Hematologic Malignancies (clinicaltrials.gov)
P1, N=9, Terminated, Blueprint Medicines Corporation | N=67 --> 9 | Trial completion date: Dec 2025 --> Mar 2025 | Active, not recruiting --> Terminated; Terminated - alignment of strategic priorities
Enrollment change • Trial completion date • Trial termination
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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KIT mutation • PDGFRA D842V • PDGFRA mutation
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azacitidine • elenestinib (BLU-263)