Blueprint’s Biomarker Testing Program: KIT D816V Test Available for Eligible U.S. Patients Suspected of Having Systemic Mastocytosis

November 22, 2021 by Ruthvik Malladi, Associate Director, Precision Medicine

Receiving a timely diagnosis is difficult for many patients living with a rare disease. These challenges are particularly significant for systemic mastocytosis (SM), a rare disorder driven primarily by the KIT D816V mutation. Due to a range of symptoms associated...

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Presentations and publications

Date
Focus
Journal title/Conference
1638806695
December 06, 2021
Avapritinib - SM Nature Medicine
Efficacy and Safety of Avapritinib in Advanced Systemic Mastocytosis: Interim Analysis of the Phase 2 PATHFINDER trial
1638806644
December 06, 2021
Avapritinib - SM Nature Medicine
Safety and Efficacy of Avapritinib in Advanced Systemic Mastocytosis: the Phase 1 EXPLORER trial
1637350218
November 19, 2021
Avapritinib - GIST 2021 Society for Neuro-Oncology Annual Meeting and Education Day
A phase 1/2 study of avapritinib in pediatric patients with solid tumors dependent on KITor PDGFRA signaling
1625972401
July 11, 2021
Avapritinib - SM European Academy of Allergy and Clinical Immunology (EAACI) Hybrid Annual Congress 2021
Avapritinib improves overall symptoms, skin lesions and quality of life in patients with advanced systemic mastocytosis in the PATHFINDER study
1623402340
June 11, 2021
Avapritinib - SM European Hematology Association (EHA) Virtual Congress
Efficacy and safety of avapritinib in patients with advanced systemic mastocytosis: Interim results from the open-label, single-arm, phase 2 PATHFINDER study  
1623316840
June 10, 2021
Avapritinib 2021 Society for Neuro-Oncology (SNO) Pediatric Conference
A phase 1/2, single-arm study to evaluate the safety, pharmacokinetics, and antitumor activity of avapritinib in pediatric patients with solid tumors dependent on KIT or PDGFRA signaling
1623229664
June 09, 2021
Pralsetinib The Lancet Oncology
Pralsetinib for RET fusion-positive non-small-cell lung cancer (ARROW): a multi-cohort, open-label, phase 1/2 study
1623229642
June 09, 2021
Pralsetinib The Lancet Diabetes and Endocrinology
Pralsetinib for patients with advanced or metastatic RET-altered thyroid cancer (ARROW): a multi-cohort, open-label, registrational, phase 1/2 study
1622797336
June 04, 2021
Pralsetinib American Society for Clinical Oncology (ASCO) Annual Meeting
Safety and efficacy of pralsetinib in patients with advanced RET fusion-positive non-small cell lung cancer: update from the ARROW trial
1622797320
June 04, 2021
Pralsetinib American Society of Clinical Oncology (ASCO) Annual Meeting
Clinical activity and safety of the RET inhibitor pralsetinib in patients with RET fusion-positive solid tumors: update from the ARROW trial
1618150109
April 11, 2021
Avapritinib - SM American Association for Cancer Research (AACR) Annual Meeting
PATHFINDER: Interim analysis of avapritinib in patients with Advanced Systemic Mastocytosis (AdvSM)
1618043459
April 10, 2021
BLU-222 American Association for Cancer Research (AACR) Annual Meeting
Development of a selective CDK2-E inhibitor in CCNE-aberrant cancers
1618043457
April 10, 2021
BLU-852 American Association for Cancer Research (AACR) Annual Meeting
MAP4K1 inhibition enhances immune cell activation and anti-tumor immunity in preclinical tumor models
1618043450
April 10, 2021
BLU-945 American Association for Cancer Research (AACR) Annual Meeting
BLU-945, a fourth-generation, potent and highly selective epidermal growth factor receptor tyrosine kinase inhibitor with intracranial activity, demonstrates robust in vivo anti-tumor activity in models of osimertinib-resistant non-small cell lung cancer
1618043435
April 10, 2021
BLU-701 American Association for Cancer Research (AACR) Annual Meeting
BLU-701 is a highly potent, brain-penetrant and WT-sparing next-generation EGFR TKI for the treatment of sensitizing (ex19del, L858R) and C797S resistance mutations in metastatic NSCLC
1618043429
April 10, 2021
BLU-263 American Association for Cancer Research (AACR) Annual Meeting
Safety and pharmacokinetics of BLU-263, a next-generation KIT inhibitor, in normal healthy volunteers
1618043402
April 10, 2021
Avapritinib - SM American Association for Cancer Research (AACR) Annual Meeting
Changes in mast cell numbers and phenotype in patients with indolent systemic mastocytosis treated with avapritinib
1610790107
January 16, 2021
Avapritinib - GIST European Journal of Cancer
Avapritinib in unresectable or metastatic PDGFRA D842V-mutant gastrointestinal stromal tumours: Long-term efficacy and safety data from the NAVIGATOR phase I trial
1607335543
December 07, 2020
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
PIONEER Part 2: A Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study to Evaluate Safety and Efficacy of Avapritinib in Indolent Systemic Mastocytosis
1607335517
December 07, 2020
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
Perceptions of Patient Disease Burden and Management Approaches of Systemic Mastocytosis (SM) By Healthcare Providers (HCPs): Results from the TouchStone SM Survey
1607335504
December 07, 2020
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
Increased Detection of KIT D816V Mutation in Peripheral Blood Samples from Patients with Indolent Systemic Mastocytosis (ISM) in the Phase 2 PIONEER Study Using a High Sensitivity Droplet Digital (dd) PCR Assay Compared with Next Generation Sequencing (NGS)
1607260818
December 06, 2020
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
Pure Pathologic Response Is Associated with Improved Overall Survival in Patients with Advanced Systemic Mastocytosis Receiving Avapritinib in the Phase I EXPLORER Study
1607162755
December 05, 2020
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
Patient Reported Outcomes Among Systemic Mastocytosis (SM) Patients in Routine Clinical Practice: Results from the TouchStone Survey
1607162751
December 05, 2020
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
Results from PIONEER: A Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of Avapritinib in Patients with Indolent Systemic Mastocytosis
1605104268
November 11, 2020
Avapritinib - GIST Connective Tissue Oncology Society (CTOS) Annual Meeting
Avapritinib vs. Regorafenib in Patients With Locally Advanced Unresectable or Metastatic Gastrointestinal Stromal Tumor (GIST): Efficacy and Safety Data From Phase 3 VOYAGER Study
1602924933
October 17, 2020
Pralsetinib IASLC North America Conference on Lung Cancer
Analysis of Resistance Mechanisms to Pralsetinib (BLU-667) in Patients with RET Fusion-Positive Non-Small Cell Lung Cancer (NSCLC) from the ARROW Study
1600591101
September 20, 2020
Pralsetinib European Society for Medical Oncology (ESMO) Virtual Congress
Results from the registrational phase 1/2 ARROW trial of pralsetinib (BLU-667) in patients with advanced RET mutation-positive medullary thyroid cancer
1600419622
September 18, 2020
Avapritinib - GIST European Society for Medical Oncology (ESMO) Virtual Congress
Long-term efficacy, tolerability and overall survival in patients with unresectable or metastatic PDGFRA D842V-mutant gastrointestinal stromal tumor treated with avapritinib: NAVIGATOR phase 1 trial update
1600333219
September 17, 2020
Avapritinib - GIST European Society for Medical Oncology (ESMO) Virtual Congress
Clinical Efficacy Comparison of Avapritinib With Other Tyrosine Kinase Inhibitors (TKIs) in Gastrointestinal Stromal Tumors (GIST) With PDGFRA D842V Mutation: A Retrospective Analysis of Clinical Trial and Real-World Data
1600330034
September 17, 2020
BLU-945 European Society for Medical Oncology (ESMO) Virtual Congress

BLU-945, a highly potent and selective 4th-generation EGFR TKI for the treatment of EGFR+/T790M/C797S resistant NSCLC

1593456441
June 29, 2020
Avapritinib - GIST The Lancet Oncology
Avapritinib in advanced PDGFRA D842V-mutant gastrointestinal stromal tumour (NAVIGATOR): a multicentre, open-label, phase 1 trial
1591929312
June 12, 2020
Avapritinib - SM Virtual Edition of the 25th European Hematology Association (EHA25) Annual Congress
Results from PIONEER: a randomized, double-blind, placebo-controlled, Phase 2 study of avapritinib in patients with indolent systemic mastocytosis (ISM)
1591929310
June 12, 2020
Avapritinib - SM Virtual Edition of the 25th European Hematology Association (EHA25) Annual Congress
Avapritinib induces responses in patients with advanced systemic mastocytosis (AdvSM), regardless of prior midostaurin therapy
1591434304
June 06, 2020
Avapritinib - SM European Academy of Allergy and Clinical Immunology (EAACI) 2020 Digital Congress
Avapritinib reduces cutaneous symptoms and mast cell burden in patients with indolent systemic mastocytosis in the PIONEER study
1590912102
May 31, 2020
Pralsetinib American Society of Clinical Oncology (ASCO) Virtual Scientific Program
Clinical activity of the RET inhibitor pralsetinib (BLU-667) in patients with RET fusion+ solid tumors
1590739456
May 29, 2020
Pralsetinib American Society of Clinical Oncology (ASCO) Virtual Scientific Program
AcceleRET Lung: A Phase 3 Study of First-Line Pralsetinib in Patients with RET Fusion+ Advanced/Metastatic Non-Small-Cell Lung Cancer (NSCLC)
1590739434
May 29, 2020
Pralsetinib American Society of Clinical Oncology (ASCO) Virtual Scientific Program
Registrational Dataset from the Phase 1/2 ARROW Trial of Pralsetinib (BLU-667) in Patients with Advanced RET Fusion+ Non-Small Cell Lung Cancer (NSCLC)
1584342045
March 16, 2020
Avapritinib - SM American Academy of Allergy, Asthma & Immunology (AAAAI) Virtual Oral Abstracts, Case Reports and Poster Sessions
PIONEER: A Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of Avapritinib in Patients with Indolent or Smoldering Systemic Mastocytosis with Symptoms Inadequately Controlled with Standard Therapy
1575795946
December 08, 2019
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
PIONEER: A Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of Avapritinib in Patients with Indolent or Smoldering Systemic Mastocytosis with Symptoms Inadequately Controlled with Standard Therapy
1573772438
November 14, 2019
Avapritinib - GIST Connective Tissue Oncology Society (CTOS) Annual Meeting
Clinical Response to Avapritinib by RECIST and Choi Criteria in ≥ 4th Line and PDGFRA Exon 18 Gastrointestinal Stromal Tumors (GIST)
1573702237
November 14, 2019
Avapritinib - GIST Connective Tissue Oncology Society (CTOS) Annual Meeting
Avapritinib for the Treatment of GIST: Analysis of Efficacy, Safety, and Patient Management Strategies at the Recommended Phase 2 Dose
1573137683
November 07, 2019
Avapritinib - SM ISPOR Europe
Psychometric Evaluation of the Advanced Systemic Mastocytosis Symptom Assessment Form (AdvSM-SAF) in patients with Advanced Systemic Mastocytosis
1573137287
November 07, 2019
Avapritinib - SM ISPOR Europe
Psychometric Performance of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF)
1569920764
October 01, 2019
Fisogatinib Cancer Discovery
First-in-Human Phase I Study of Fisogatinib (BLU-554) Validates Aberrant Fibroblast Growth Factor 19 Signaling as a Driver Event in Hepatocellular Carcinoma
1569920650
October 01, 2019
Fisogatinib Cancer Discovery

Acquired On-Target Clinical Resistance Validates FGFR4 as a Driver of Hepatocellular Carcinoma

1569823542
September 30, 2019
Pralsetinib European Society for Medical Oncology (ESMO) Annual Meeting
Treatment With Pralsetinib (BLU-667), a Potent and Selective RET Inhibitor, Provides Rapid Clearance of ctDNA in Patients With RET-Altered Non-Small Cell Lung Cancer (NSCLC) and Thyroid Cancer
1569155420
September 22, 2019
BLU-782 American Society for Bone and Mineral Research (ASMBR) Annual Meeting
A clinical update on BLU-782, an investigational selective ALK2 inhibitor in development for fibrodysplasia ossificans progressiva (FOP)
1568023113
September 09, 2019
Pralsetinib IASLC World Conference on Lung Cancer
Pralsetinib (BLU-667) demonstrates robust activity in RET-fusion-driven intracranial tumor models
1560579358
June 15, 2019
Avapritinib - SM European Hematology Association (EHA) Annual Meeting
Avapritinib, a Potent and Selective Inhibitor of KIT D816V, Induces Complete and Durable Responses in Patients (pts) with Advanced Systemic Mastocytosis (AdvSM)
1559552740
June 03, 2019
Pralsetinib American Society of Clinical Oncology (ASCO) Annual Meeting
Clinical Activity and Tolerability of BLU-667, a Highly Potent and Selective RET Inhibitor, in Patients with Advanced RET-Fusion+ Non-small Cell Lung Cancer
1559398538
June 01, 2019
Pralsetinib American Society of Clinical Oncology (ASCO) Annual Meeting
Activity and Tolerability of BLU-667, a Highly Potent and Selective RET Inhibitor, in Patients with Advanced RET-altered Thyroid Cancers
1559379949
June 01, 2019
Avapritinib - GIST American Society of Clinical Oncology (ASCO) Annual Meeting
Clinical Activity of Avapritinib in ≥4th Line (4L+) and PDGFRA Exon 18 Gastrointestinal Stromal Tumors (GIST)
1553970136
March 30, 2019
Pralsetinib American Association for Cancer Research (AACR) Annual Meeting
Discovery of BLU-667 for RET-driven cancers
1543789289
December 02, 2018
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
Avapritinib, a Potent and Selective Inhibitor of KIT D816V, Improves Symptoms of Advanced Systemic Mastocytosis (AdvSM) (oral presentation)
1542320453
November 15, 2018
Avapritinib - GIST Connective Tissue Oncology Society (CTOS) Annual Meeting
Avapritinib is Highly Active and Well-tolerated in Patients With Advanced GIST Driven by a Diverse Variety of Oncogenic Mutations in KIT and PDGFRA (oral presentation)
1540246817
October 22, 2018
Avapritinib - GIST European Society for Medical Oncology (ESMO) Annual Meeting
Correlation of ctDNA and Response in Patients with PDGFRα D842 GIST Treated with Avapritinib (poster presentation)
1540246775
October 22, 2018
Avapritinib - GIST European Society for Medical Oncology (ESMO) Annual Meeting
An Open-label, Randomized, Phase 3 Study of Avapritinib vs Regorafenib in Patients With Locally Advanced Metastatic or Unresectable Gastrointestinal Stromal Tumor (poster presentation)
1538864323
October 06, 2018
Pralsetinib American Thyroid Association (ATA) Annual Meeting
Clinical activity of BLU-667, a highly selective RET inhibitor, in advanced RET-altered thyroid cancers: updated results from the phase 1 ARROW study (oral presentation)
1538432296
October 01, 2018
Avapritinib - GIST Clinical Cancer Research
Robust activity of avapritinib, potent and highly selective inhibitor of mutated KIT, in patient-derived xenograft models of gastrointestinal stromal tumors
1538345823
September 30, 2018
BLU-782 American Society for Bone and Mineral Research (ASBMR) Annual Meeting
BLU-782: A highly selective ALK2 inhibitor, designed specifically to target the cause of fibrodysplasia ossificans progressiva
1538000121
September 26, 2018
Pralsetinib IASLC World Conference on Lung Cancer
Activity of osimertinib and the selective RET inhibitor BLU-667 in an EGFR-mutant patient with acquired RET rearrangement (oral presentation)
1538000089
September 26, 2018
Pralsetinib Cancer Discovery
Landscape of acquired resistance to osimertinib in EGFR-mutant NSCLC and clinical validation of combined EGFR and RET inhibition with osimertinib and BLU-667 for acquired RET fusion
1529100833
June 15, 2018
Avapritinib - SM European Hematology Association (EHA) Annual Meeting
Avapritinib (BLU-285), a Selective KIT Inhibitor, is Associated with High Response Rate and Tolerable Safety Profile in Advanced Systemic Mastocytosis: Results of a Phase 1 Study (poster presentation)
1523830394
April 15, 2018
Pralsetinib American Association for Cancer Research (AACR) Annual Meeting
Highly potent and selective RET inhibitor, BLU-667, achieves proof of concept in ARROW, a phase 1 study of advanced, RET-altered solid tumors (oral presentation)
1523830353
April 15, 2018
Pralsetinib Cancer Discovery
Precision targeted therapy with BLU-667 for RET-driven cancers
1512943899
December 10, 2017
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
Clinical activity in a Phase 1 study of BLU-285, a potent, highly-selective inhibitor of KIT D816V in advanced systemic mastocytosis (plenary oral presentation)
1510351812
November 10, 2017
Avapritinib - GIST Connective Tissue Oncology Society (CTOS) Annual Meeting
Clinical activity of BLU-285, a highly potent and selective KIT/PDGFRα inhibitor designed to treat gastrointestinal stromal tumor (GIST) (oral presentation)
1509574157
November 01, 2017
Avapritinib Science Translational Medicine
A precision therapy against cancers driven by KIT/PDGFRA mutations
1509314866
October 29, 2017
Pralsetinib Molecular Targets and Cancer Therapeutics (AACR – NCI – EORTC)
BLU-667 is a Potent and Highly Selective RET Inhibitor Being Developed for RET-Driven Cancers
1505685990
September 17, 2017
Fisogatinib International Liver Cancer Association (ILCA) Annual Conference
(Clinical activity Of BLU-554, a potent, highly-selective FGFR4 inhibitor in advanced HCC with FGFR4 pathway activation (oral presentation)
1505081139
September 10, 2017
Fisogatinib European Society for Medical Oncology (ESMO) Annual Meeting
Phase 1 Safety and Clinical Activity of BLU-554 in advanced hepatocellular carcinoma (oral presentation)
1501452295
July 30, 2017
Pralsetinib World Congress on Thyroid Cancer
BLU-667 is a potent and highly selective RET inhibitor in development for RET-driven thyroid cancers
1496700240
June 05, 2017
Avapritinib - GIST American Society of Clinical Oncology (ASCO) Annual Meeting
Clinical activity of BLU-285 in advanced gastrointestinal stromal tumor (GIST) (oral presentation)
1491170553
April 02, 2017
Avapritinib - GIST American Association for Cancer Research (AACR) Annual Meeting
BLU-285: A potent and highly selective inhibitor designed to target malignancies driven by KIT and PDGFRα mutations (oral presentation)
1491170447
April 02, 2017
Avapritinib - SM American Association for Cancer Research (AACR) Annual Meeting
BLU-285: A potent and highly selective inhibitor designed to target malignancies driven by KIT and PDGFRα mutations (oral presentation)
1480888795
December 04, 2016
Avapritinib - SM American Society of Hematology (ASH) Annual Meeting
Preliminary Safety and Activity in a Phase 1 study of BLU-285, a Potent, Highly-Selective Inhibitor of KIT D816V in Advanced Systemic Mastocytosis (SM) (oral presentation)
1480629552
December 01, 2016
Avapritinib - GIST EORTC – NCI – AACR Molecular Targets and Cancer Therapeutics Symposium
Preliminary safety and activity in a first-in-human Phase 1 study of BLU-285, a potent, highly selective inhibitor of KIT and PDGFRα activation loop mutants in advanced gastrointestinal stromal tumor (GIST) (oral presentation)
1480456639
November 29, 2016
Fisogatinib Molecular Targets and Cancer Therapeutics (EORTC – NCI – AACR)
First-in-human study of BLU-554, a potent, highly selective FGFR4 inhibitor designed for hepatocellular carcinoma (HCC) with FGFR4 pathway activation (poster presentation)
1461016563
April 18, 2016
Pralsetinib American Association for Cancer Research (AACR) Annual Meeting
The development of Potent and Selective RET inhibitors
1430516121
May 01, 2015
Research Journal of Clinical Investigation
Targeting cancer with kinase inhibitors
1426541525
March 16, 2015
Fisogatinib Cancer Discovery
First Selective Small Molecule Inhibitor of FGFR4 for the Treatment of Hepatocellular Carcinomas with an Activated FGFR4 Signaling Pathway
1411162202
September 19, 2014
Research Nature Communications
Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes
1410384400
September 10, 2014
Research Nature Communications
The landscape of kinase fusions in cancer