PMC10166794_01
Ultra-widefield fundus photography showing pigmented choroidal elevated lesions in the right (A) and left (B) eye. Yellow arrows indicate the optical coherence tomography (OCT) scan direction. The subretinal fluid and choroidal folds on OCT images before treatment (C, E) showed improvement after selpercatinib treatment (D, F).
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Fundus photographs revealed bilateral choroidal metastatic lesions ( Figures 1A-C, E ), but computed tomography showed no definitive lung mass. Optical coherence tomography showed improvement of the subretinal fluid and choroidal folds after treatment ( Figures 1D, F ).
Clinical course with radiological images at initial diagnosis, the beginning of selpercatinib treatment, and after treatment. Positron emission tomography-computed tomography revealed a partial response for multiple bone metastases and slightly decreased size of uterine cervical metastasis (red circles) on pelvic magnetic resonance image.
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Positron emission tomography-computed tomography (PET-CT) scans showed extensive bone metastatic lesions and focal hypermetabolism in the left uterine cervix ( Figure 2 ). After 6 months of RET-targeted therapy, PET-CT revealed a partial response for multiple bone metastases ( Figure 2 ).
Pathological images and next-generation sequencing (NGS). (A, B) Microscopic findings of the lung surgical specimen and uterine biopsy. Lung adenocarcinoma exhibits an acinar growth pattern in invasive component, which is similar to the histology seen in uterine biopsy (H&E, 100x). (C) Plasma NGS shows KIF13A-RET rearrangement with a variant allele fraction of 0.0292%. Library preparation and target capture were performed using a commercial kit and custom target gene panel (Dxome). Massive parallel sequencing was performed using a high-throughput sequencing machine (Illumina).
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TTF-1+, CK7+ and Ki-67+ without PD-L1 expression, which were similar findings as those from previously resected tissue in 2008 ( Figures 3A, B ). The real-time polymerase chain reactions to epidermal growth factor receptor and ROS proto-oncogene 1 receptor tyrosine kinase (ROS1) were negative, and anaplastic lymphoma kinase (ALK) fluorescence in situ hybridization was also negative. We performed next-generation sequencing (NGS) of the uterine tissue and plasma, and then identified the presence of the KIF13A-RET fusion gene from the plasma sample ( Figure 3C ).