* All mutational panels are performed as part of a 169 gene (full-coding) hybrid capture-based next generation sequencing (NGS) assay
Lung Panels | Gastrointestinal (GI) Panels |
Initial presentation/testing Mutations: EGFR, KRAS, BRAF, ERBB2, METex14 Fusions: ALK, ROS1, METex14, RET, NTRK1/2/3 Amplifications: ERBB2, MET by FISH IHC: PD-L1 (SP263) (if not previously done) | Colorectal Carcinoma Microsatellite instability analysis Mutations: BRAF, KRAS, NRAS, POLE If negative for RAS/RAF, reflex to: FISH: ERBB2 Fusions: NTRK1/2/3, RET If MSI-H and MLH1/PMS2 loss (by IHC), MLH1 promoter hypermethylation |
Resistance to targeted therapy Mutations: BRAF, EGFR, ERBB2, KRAS, METex14 PLUS kinase domain relevant driver (ALK, RET, ROS1) as indicated by clinical history Fusions: ALK, METex14, NTRK1/2/3, RET, ROS1 Amplifications: ERBB2, MET by FISH | Pancreatic Carcinoma Microsatellite instability analysis (requires paired normal tissue) Mutation: BRCA1, BRCA2, KRAS If driver negative, reflex to: Fusions: NRG1, NTRK1/2/3 |
Relatedness of multiple lesions Mutations: All genes in assay (169) Fusion (as appropriate): ALK, METex14, NTRK1/2/3, RET, ROS1 | GIST Mutations: BRAF, KIT, NF1, PDGFRA If negative for the above genes, reflex to: Fusions: NTRK1/2/3 |
Rapid EGFR/KRAS/ALK panel * Mutations: Rapid EGFR, Rapid KRAS IHC: ALK, PD-L1 (if not previously done) If negative, will reflex to initial lung panel | Cholangiocarcinoma Microsatellite instability analysis (requires paired normal tissue) Fusions: FGFR2/3, ROS1 Mutations: BRAF, IDH1, KRAS |
Rapid KRAS reflex to panel * Mutations: Rapid KRAS If negative, will reflex to initial lung panel | Gastric/Gastroesophageal/GE junction Carcinoma *
Mutations: BRAF, ERBB2, KRAS
Fusions: NTRK1/2/3, RET
Microsatellite instability analysis (requires paired normal tissue)
FISH ERBB2 (If IHC equivocal or not performed)
* Can be ordered without mutational/fusion NGS |
* Rapid panels are offered with the intent of expediting therapy decisions in the setting of severely/acutely ill patients. Rapid testing is performed at the discretion of the molecular pathologist and may be deferred to prioritize more comprehensive testing. | Rapid KRAS (non-NGS) |
Rapid MSI (available for colorectal carcinomas only) | |
Relatedness of multiple lesions (multiple primary vs metastasis) Mutations: All genes in assay (169)
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Genitourinary (GU) Panels | |
Urothelial (bladder) Mutations: ERBB2, FGFR2/3, PIK3CA If negative for the above genes, reflex to: Fusions: FGFR1/2/3 | Prostatic Adenocarcinoma/Homologous Recombination Deficiency (HRD)
Microsatellite Instability analysis (requires paired normal tissue)
Mutations: ATM, BARD1, BRCA1, BRCA2, CDK12, CHEK2, FANCA, PALB2, RAD51D |
Renal Cell Carcinoma (RCC)
Mutations: BAP1, PBRM1, SETD2, VHL*
*Priority reportable genes variable depending on differential diagnosis/tumor type suspicion. Other reportable genes include (but are not limited to): ELOC (TCEB1), FH, SDHA/B/C/D, and SMARCB1.
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Non-lung/Non-GI/Non-GU Panels | |
Melanoma - Cutaneous Mutation: BRAF, KIT, MAP2K1, NF1, NRAS If negative for the above genes, reflex to: Fusions: ALK, BRAF, NTRK1/2/3, ROS1 - Uveal Mutations: GNA111, GNAQ If negative for the above genes, reflex to: Fusions: ALK, BRAF, NTRK1/2/3, ROS1 - Rapid BRAF reflex to panel Mutations: Rapid BRAF If negative, will reflex to appropriate panel above | Glioma Panel*
Mutations: BRAF, IDH1, IDH2, TERT promoter Option to add Fusions: FGFR2/3, NTRK1/2/3, RET Option to add: MGMT promoter methylation *Adult diffuse glioma panel listed. Priority reportable genes variable depending on differential diagnosis/tumor type suspicion. Other reportable genes include: FGFR1, H3F3A, and MAP2K1. Other fusions include: BRAF, FGFR1 kinase domain duplication, and MYB |
Desmoid Fibromatosis
Mutations: CTNNB1, APC | Meningioma Panel
Mutations: BAP, NF2, TERT Losses: 1p &CDKN2A (by FISH) |
Breast Mutations: AKT1, ERBB2, ESR1, PIK3CA, PTEN
| Endometrial Mutations: CTNNB1, POLE, TP53 If MSI-H and MLH1/PMS2 loss (by IHC), MLH1 promoter hypermethylation
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Thyroid - Differentiated Thyroid Cancer Mutation: BRAF If negative for BRAF, reflex to: Mutations: RAS Fusions: NTRK, PAX8-PPARg, RET - Anaplastic Thyroid Cancer Mutations: BRAF If negative for BRAF, reflex to: Mutations: RAS, TERT Fusions: NTRK, PAX8-PPARg, RET - Medullary Thyroid Cancer Mutations: RET If negative for RET, reflex to: Mutations: RAS |