PMC10200934_01
Representative clinical images during the treatment course. (A) Disease timeline showed the various treatment received by the patient and her clinical response. LUAD, lung adenocarcinoma. (B) Chest CT scans showed the disease progression under treatment.
fonc-13-1177942-g001.jpg
PMC10200934_01_fonc-13-1177942-g001.jpg
f1
The integrated positron emission tomography (PET) and computed tomography (CT) revealed a mass (1.7 x 1.7 x 1.5 cm3) in the upper lobe of the left lung, which was surgically removed ( Figure 1B ). Figure 1A ). Four cycles of postoperative adjuvant chemotherapy with pemetrexed and carboplatin were administrated. In July 2020, the disease progressed with pleural metastases ( Figure 1B ). The patient then received osimertinib (80 mg qd), a third-generation EGFR TKI, and achieved an initial partial response (PR) with sustained response ongoing for 17 months ( Figure 1B ). Table 1 ). The patient then received dabrafenib (150 mg bid) plus trametinib (2 mg qd) in May 2022 and achieved stable disease (SD) with sustained response ongoing for 2 months ( Figure 1B ).
Hematoxylin & eosin (H&E) and immunohistochemical (IHC) staining for the lung tumor tissues. (A) H&E staining (x200) of the lung cancer. (B-H) IHC examinations (x200) of the resected tumor tissues were positive for epidermal growth factor receptor (EGFR), topoisomerase IIalpha (TOPOIIalpha), 170-kDa protein (p170), and p53 and negative for human epidermal growth factor receptor 2 (Her-2) and ALK. The Ki67 index was 60%.
fonc-13-1177942-g002.jpg
PMC10200934_01_fonc-13-1177942-g002.jpg
f2
Ki67 labeling in the tumor cells was 60% ( Figure 2 ).
Pedigree describing the patient's personal and family history of cancer. Squares and circles denote male and female, respectively. Roman numerals indicate generations. The proband was marked with a red arrow. A small red circle indicates which family members were tested and found to carry ERCC2 frameshift mutation. A small hollow circle indicates which family members were tested and found not to carry ERCC2 frameshift mutation.
fonc-13-1177942-g003.jpg
PMC10200934_01_fonc-13-1177942-g003.jpg
f3
Figure 3 ). Five months later, the disease progressed with the detection of increased AF BRAF (V600E) mutation (