PMC9730411_01
Schematic of treatment history of Case 1. (A) The timeline of treatment, the time point of surgery, and the NGS test are labeled above. (B) CT scans are shown where the red circles highlight the location of tumors. (C) Pathological examination of the surgical specimen. IHC testing (400x) results showed positive expression of Napsin A, TTF-1, and Ki67. (D) The EGFR Ex19Del/G724S mutation was visualized by IGV software. Deletions are indicated with a black dash (-). (E) Line chart shows changes in CEA levels in the serum tumor biomarker during the treatment.
fonc-12-1054593-g001.jpg
PMC9730411_01_fonc-12-1054593-g001.jpg
f1
TP53 R158del mutation ( Figure 1D ). The patient then received afatinib treatment (30 mg qd) along with six cycles of pemetrexed and carboplatin chemotherapy ( Figure 1A ); then 14 cycles of pemetrexed were given, in consideration of the poor response to EGFR-TKIs when EGFR and TP53 mutation coexist. A partial response (PR) was seen on CT scans taken in March 2020 ( Figure 1B ), the liver tumor had disappeared, and the bone metastasis was stable, whereas a worsening brain metastasis had occurred ( Figure 1B ).
PMC9730411_02
Schematic of treatment history of Case 2. (A) The timeline of treatment and CT scans are shown where the red circles highlight the location of tumors. The time point of NGS detected is labeled above. (B) Pathological examination of the surgical specimen. The H&E staining image (400x) showed a poorly differentiated adenocarcinoma histology, and IHC testing results showed a positive expression of Napsin A, TTF-1, and CK7, respectively. (C) Baseline positron emission tomography (PET-CT and ECT) scans with circled tumor location. (D) Identification of the EML4-ALK fusion. Sequencing reads of ALK and EML4 are visualized by the IGV software. (E) Line chart showed changes in CEA levels in the serum tumor biomarker during the treatment.
fonc-12-1054593-g002.jpg
PMC9730411_02_fonc-12-1054593-g002.jpg
f2
Chinese female patient, whose mother died from lung cancer, presented to our hospital with a chief complaint of lumbago in November 2020. CT images revealed right lung adenocarcinoma with liver ( Figure 2A ), bone, and brain metastases ( Figure 2C ), with the right supraclavicular region, mediastinum, and right hilar lymph nodes spreading. TTF-1, and CK7 ( Figure 2B ). April 2022. CT scans revealed disease progression one month later, and NGS analysis detected a novel EML4-ALK fusion ( Figure 2D ). At that time, the CEA level was markedly elevated (1,272.94 ng/ml,  Figure 2E ), which indicated progressive disease.