PMC9632292_01
(A) small round cells was diffusely distributed, cellular atypia and nucleus to cytoplasm ratio were relatively high, conspicuous nucleoli and pathological nuclear division can be detected(x200 hematoxylin/eosin).(B) HMB45 was diffusely positive in cytoplasm, with a specificity of 100% and a sensitivity of 93%(x200 hematoxylin/eosin).(C) Melan-A is a marker of melanin differentiation with high sensitivity and specificity in malignant melanoma. In this case, Melan-A was diffuse positive in cytoplasm(x200 hematoxylin/eosin). (D) Ki67 can distinguish benign and malignant melanomas and can mark the maturation of melanin lesions. The positive cells in malignant melanomas were generally > 25%, in this case it is about 40%(x200 hematoxylin/eosin). (E) CK is a broad-spectrum epithelial marker. In this case, CK is negative and is distinct from epithelial carcinoma (x200 hematoxylin/eosin).(F) LCA is a lymphocyte marker and is negative in this case, distinguishing it from lymphoma (x200 hematoxylin/eosin).
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The immunohistochemistry results (positive for the expression of Ki-67, HMB45, Melan-A, S-100, and SOX10, but negative for CK, P63, EBER, EGFR and Melan-A) were consistent with malignant melanoma, and the incision margin was negative ( Figure 1 ).
PET-CT showing (A) the lesion and high FDG uptake in November 2020, and (B) complete remission following crizotinib in August 2021.
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Positron emission tomography-computed tomography (PET-CT) performed in November 2020 demonstrated high fluorodeoxyglucose (FDG) uptake in the multifocal pulmonary fields, lymph nodes, liver, intrahepatic biliary tract, pancreas, paranephros, subcutaneous tissue, muscles, and bone, indicating tumor metastases ( Figure 2A ). April 2021 showed no obvious space-occupying lesions in the nasal cavity, and the remaining lesions were reduced, indicating PR (partial response) with a >30% decrease in the sum of the lesion diameters compared to previous examinations. A PET-CT in August 2021 showed complete regression of the lesions ( Figure 2B ).
The Integrative Genomics Viewer Screenshot (A) of GOPC-ROS1 gene fusion are displayed by whole exome sequencing. The schematic diagram (B) represents the GOPC-ROS1 fusion protein domain structure.
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On whole exome sequencing (WES), GOPC-ROS1 fusion and ERBb2 overexpression were found ( Figure 3 ).
Timeline of patient treatment (from April 2020 to May 2022). Treatment process and effect evaluation of the patient. PFS,Progression-free Survival; mo, months; PR, Partial Response; CR, Complete Regression; WBRT, Whole Brain Radio Therapy.
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Subsequently, the patient made the decision to stop treatments and deceased due to her cancer on 12 May 2022 ( Figure 4 ).