Associated Papers
Clinical relevance of mosaic variants detected by exome sequencing.
Ghosh R et al.
The Journal of Allergy and Clinical Immunology, 2026
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression.
Bruneau J et al.
Blood Cancer Journal, 2025
Resolving intra-tumor heterogeneity and clonal evolution of core-binding factor acute myeloid leukemia patients with single-cell resolution.
Hablesreiter R et al.
Experimental Hematology & Oncology, 2025
Challenges in accuracy in molecular genetic diagnosis of childhood AML: case series.
de Oliveira Mota F et al.
Annals of Hematology, 2025
Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.
Sun X et al.
British Journal of Haematology, 2025
A deep-learning model for predicting tyrosine kinase inhibitor response from histology in gastrointestinal stromal tumor.
Kong X et al.
The Journal of Pathology, 2025
Mast cell sarcoma with KIT p.D816V mutation and concurrent systemic mastocytosis.
Collins N et al.
Journal of Hematopathology, 2024
MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.
Cai X et al.
Bmc Cancer, 2024
A high prevalence of hereditary alpha-tryptasemia in pediatric mastocytoma.
Madrange M et al.
Allergy, 2024
Detection of KIT Mutations in Systemic Mastocytosis: How, When, and Why.
Cilloni D et al.
International Journal of Molecular Sciences, 2024
Molecular Profiling of KIT/PDGFRA-Mutant and Wild-Type Gastrointestinal Stromal Tumors (GISTs) with Clinicopathological Correlation: An 18-Year Experience at a Tertiary Center in Kuwait.
Ali RH et al.
Cancers, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
Whole-exome sequencing has revealed novel genetic characteristics in intracranial germ cell tumours in the Chinese.
Huang X et al.
Histopathology, 2024
Comparison between next-generation sequencing and multiplex polymerase chain reaction assays for nonsmall-cell lung cancer molecular diagnosis.
Murakami S et al.
Cancer Medicine, 2024
Leukemic stem cells activate lineage inappropriate signalling pathways to promote their growth.
Kellaway SG et al.
Nature Communications, 2024
A new genomic framework to categorize pediatric acute myeloid leukemia.
Umeda M et al.
Nature Genetics, 2024
[MACULOPAPULAR CUTANEOUS MASTOCYTOSIS HARBORING A KIT MUTATION (ASP419DEL): A CASE REPORT].
Fukaura A et al.
Arerugi = [allergy], 2024
Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review.
Yan M et al.
The Oncologist, 2023
Avapritinib is effective for treatment of minimal residual disease in acute myeloid leukemia with t (8;21) and kit mutation failing to immunotherapy after allogeneic hematopoietic stem cell transplantation.
Kong J et al.
Bone Marrow Transplantation, 2023
SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.
Pitts HA et al.
International Journal of Molecular Sciences, 2023
[Gastrointestinal stromal tumors (GIST)].
Jaros D et al.
Wiener Medizinische Wochenschrift (1946), 2023
KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes.
Navarro-Navarro P et al.
Allergy, 2023
Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.
Cheng CK et al.
Communications Biology, 2023
Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.
Ręka G et al.
Cells, 2023
Whole exome analysis reveals the genomic profiling related to chemo-resistance in Chinese population with limited-disease small cell lung cancer.
Yu J et al.
Cancer Medicine, 2023
Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.
Cheng WY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib.
Wong NACS et al.
Cancer Genetics, 2022
Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.
González-López O et al.
Cancers, 2022
New treatment strategies for advanced-stage gastrointestinal stromal tumours.
Klug LR et al.
Nature Reviews. Clinical Oncology, 2022
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
Chevrier S et al.
International Journal of Molecular Medicine, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.
Martin ES et al.
American Journal of Hematology, 2021
Protein tyrosine phosphatase receptor type E (PTPRE) regulates the activation of wild-type KIT and KIT mutants differently.
Zhang S et al.
Biochemistry and Biophysics Reports, 2021
Diffuse cutaneous mastocytosis: Identification of KIT mutation and long-term follow-up with serum tryptase level.
Shibata Y et al.
The Journal of Dermatology, 2021
Criteria for the Regression of Pediatric Mastocytosis: A Long-Term Follow-Up.
Polivka L et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2021
Update on Molecular Genetics of Gastrointestinal Stromal Tumors.
Brčić I et al.
Diagnostics (basel, Switzerland), 2021
Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency.
Pitsava G et al.
Frontiers in Endocrinology, 2021
RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.
Kim T et al.
Scientific Reports, 2020
A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.
Fornasarig M et al.
Journal of Personalized Medicine, 2020
Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.
Park J et al.
Molecular Diagnosis & Therapy, 2020
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.
Li J et al.
Journal of Translational Medicine, 2020
Functional Properties of KIT Mutations Are Associated with Differential Clinical Outcomes and Response to Targeted Therapeutics in CBF Acute Myeloid Leukemia.
Tarlock K et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Comutation and exclusion analysis in human tumors: A tool for cancer biology studies and for rational selection of multitargeted therapeutic approaches.
Ochoa S et al.
Human Mutation, 2019
Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.
Heim D et al.
Genome Medicine, 2018
Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study.
Meni C et al.
The British Journal of Dermatology, 2018
XK-related protein 5 (XKR5) is a novel negative regulator of KIT/D816V-mediated transformation.
Sun J et al.
Oncogenesis, 2018