PMC8521337_01
Computed tomography shows pancreatic lesion before the surgery.
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The abdominal computerized tomography (CT) showed enlargement of the head of the pancreas with double-duct disease ( Figure 1 ).
A novel KANK1-ALK fusion was discovered in a PDCA patient. (A) Sequencing reads of ALK is shown by the Integrative Genomics Viewer. (B) Immunohistochemistry staining indicated expression of ALK, the specimen was stained by IHC with the anti-ALK (D5F3) primary antibody. (C) A split signal was observed with a frequency of 18% in the fluorescence in situ hybridization image using ZytoLight ALK Break Apart FISH Probe. (D) Illustration of KANK1-ALK fusion.
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Figure 2 ). Fusions of KANK1-ALK and UPP2-NTRK3 with a frequency of 9.87% and 4.01% were detected in this patient respectively.
A novel UPP2-NTRK3 intergenic fusion was discovered in a PDCA patient. (A) Sequencing reads of NTRK3 is shown by the integrative genomics viewer. (B) Immunohistochemistry staining indicated expression of NTRK3; the specimen was stained by IHC with the VENTANA pan-TKR (EPR17341) antibody. (C) A split signal was observed with a frequency of 6% in the fluorescence in situ hybridization image using ZytoLight NTRK3 Break Apart FISH Probe. (D) Illustration of UPP2-NTRK3 intergenic fusion.
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IHC ( Figure 3 ), probably because complex rearrangements with intergenic breakpoints made transcription outcomes difficult to predict and confound detection. Interestingly, a BRAC1 p.Q12 germline pathogenetic mutation was also identified in this patient, which provided this patient with more potential options in druggable therapy.