Table showing the gene fusions and exon skipping called by ADx in samples investigated by lung panel
Samples | Histology/Diagnosis | Lung panel ADx | FISH |
---|---|---|---|
32 | Aggressive glial neoplasia | KIF5C-ALK | ALK confirmed |
33 | Poorly differentiated lung adenocarcinoma | EML4-ALK | ALK confirmed |
34 | Lung adenocarcinoma | KIF5B-RET | RET confirmed |
35 | Thyroid papillary carcinoma | RET-NCOA4 | RET confirmed |
36 | Thyroid papillary carcinoma | RELCH-RET | RET confirmed |
37 | NTRK-rearranged spindle cell sarcoma | TPM3-NTRK1 | NTRK1 confirmed |
38 | Liver adenocarcinoma | FGFR2-TACC3 | FGFR2 non canonical |
39 | Secretory carcinoma of the parotid | ETV6-NTRK3 | ETV6-NTRK3 confirmed |
40 | Non small cell carcinoma with sarcomatoid features | TPM3-NTRK1 | NTRK1 not confirmed |
41 | Pilocytic astrocitoma | KIAA1549-BRAF | Not done |
42 | Intracranic astrocitoma | KIAA1549-BRAF | Not done |
43 | Lung adenocarcinoma | EML4-ALK | Not done |
44 | Thyroid papillary carcinoma | TPR-NTRK1 | Not done |
45 | Lung adenocarcinoma | EML4-ALK | Not done |
46 | Lung adenocarcinoma | EML4-ALK | Not done |
47 | NTRK rearranged inflammatory myofibroblastic tumor | ETV6-NTRK3 | Not done |
48 | NTRK rearranged Spindle cell Sarcoma | TPM3-NTRK1 | Not done |
49 | NTRK rearranged Spindle cell Sarcoma | TPM3-NTRK1 | Not done |
50 | NTRK rearranged Spindle cell Sarcoma | TPR-NTRK1 | Not done |
51 | Parotid carcinoma | ETV6-NTRK3 | Not done |
52 | NTRK rearranged spindle cell neoplasm | TFG-NTRK3 | Not done |
53 | Talamic neoformation | NTRK2 exon5 skipping | Not achievable |
54 | Embryonal rhabdomyosarcoma | NTRK2 exon 5 skipping | Not achievable |
55 | Cerebellar HGNET-BCOR mutated | NTRK3 exons 13–15 skipping | Not achievable |
56 | Frontal expansive lesion | NTRK3 exon 16 skipping | Not achievable |
57 | Lung adenocarcinoma | MET exon 14 skipping | Not achievable |
58 | Lung adenocarcinoma | MET exon 14 skipping | Not achievable |
59 | Lung adenocarcinoma | MET exon 14 skipping | Not achievable |
60 | Neuroendocrine tumor (atypical carcinoid) | RET exons 4–7 skipping | Not achievable |
a: external diagnosis. b: RNAseq was performed on surgical samples while FISH was done on CNBs prior surgery. *: According to WHO classification of Soft tissue and bone tumors [17] and to WHO classification of Thoracic tumors [22]; KIF5C: kinesin family member 5C; EML4: EMAP like 4; RELCH: RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing; TPM3: tropomyosin 3; TACC3: transforming acidic coiled-coil containing protein 3; TPR: translocated promoter region, nuclear basket protein