PMC10497211_01
Dynamic imaging of lung lesions at different stages of treatment. (A) Lung lesions at diagnosis. (B) After targeted therapy with alectinib for 2 months, the right lung tumor was significantly reduced, resulting in partial response (PR). (C) After targeted therapy with alectinib for 9 months, the tumor in the right lung continued to shrink. (D) After targeted therapy with alectinib for 12 months, the right lung tumor tends to be stable.
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A computed tomography (CT) scan revealed hydropneumothorax, compression atelectasis (approximately 80% collapse) and tumor mass of the right lung, and multiple nodules in the left lung ( Figure 1A ). Figure 1B ). Follow-up CT scans at 9 months and 12 months showed reduced stable disease ( Figures 1C, D ).
Pathological examination of the patient. (A) Lung tissue biopsy specimen (hematoxylin and eosin staining, magnification x100). (B) The immunohistochemistry demonstrated positive expression for ALK (D5F3 Ventana).
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The pathologic results of ultrasound-guided percutaneous lung biopsy showed infiltrating growth of the allotypic glandular duct ( Figure 2A ), and the lesions tend to be pulmonary adenocarcinoma, with strongly positive expression for thyroid CK7, TTF-1, and Napsin A and negative for CK5/6, P40, and P60 as assayed by immunohistochemical staining. Immunohistochemistry staining revealed that the tumor had positive expression for ALK with the Ventana D5F3 ( Figure 2B ).
Identification of PPFIA1-ALK and ALK-C2orf91(intergenic) double-fusion variants by next-generation sequencing. (A) Sequencing reads of PPFIA1-ALK were visualized by the Integrative Genomics Viewer (IGV). (B) The schematic structure of the genomic DNA sequence shows the PPFIA1-ALK fusion points. (C) Sequencing reads of ALK-C2orf91(intergenic) were visualized by the IGV. (D) The schematic structure of the genomic DNA sequence shows the ALK-C2orf91(intergenic) fusion points.
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Non-reciprocal ALK fusion PPFIA1-ALK (P2:A20) (abundance, 10%) and ALK-C2orf91 (A19, intergenic) (abundance, 13%) was identified in tissue ( Figure 3 ).