PMC9096266_01
(A-D) Images of the cervical tumor. (A) The pelvic MRI (sagittal T1-weighted images with contrast) showing a 1.8 x 1.5 x 1.3 cm abnormal signal in the anterior wall of the cervical-vaginal junction, which was considered a neoplastic lesion. (B) H&E-stained (200x) of the cervical tumor: the tumor tissue was composed of diffused spindle cells, arranged in crisscross bundles, sheets, or zigzag, and many blood vessels were seen and had low to moderate grade nuclear atypia. (C) Immunohistochemical (IHC) of S-100 (200x) was positive. (D) IHC of Pan-TRK (200x) was strongly positive.
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F1
The results showed that approximately 11% of cells were 0r-1Gr-1Fu, which did not support the existence of NTRK1 rearrangement (NTRK1 gene signal was mostly 1-3FU) in the tumor (Supplementary Figure 1). The MRI in our hospital showed a neoplastic lesion on the anterior wall of the cervical-vaginal junction (Figure 1A). The histopathology revealed the macroscopic feature of the tumor: the tumor tissue was composed of diffused spindle cells with fascicular, nested, or uniform patterns, and vascularization and nuclear atypia (low to moderate) were observable (Figure 1B). CD34, while negative for vimentin, SOX10, and desmin (Figures 1C,D). Consequently, based on the morphological and IHC results, we diagnosed the patient as NTRK fusion cervical sarcoma.
(A-D) Images of the brain tumor. (A) The head MRI (axial showed images) showing a 4.6 x 2.2 cm neoplastic lesion in the trigeminal area. (B) H&E-stained (200x): the tumor tissue is composed of homogenous spindle cells, arranged in bundles, swirls, and sheets, mitotic activity, and rich blood vessels. (C) IHC of S-100 (200x) was positive. (D) IHC of Pan-TRK (200x) was strongly positive.
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F2
During the operation, a 0.5 x 1.5 cm neoplasm was found on the posterior wall of the uterus, and the pathological examination revealed an endometrial polyp (Supplementary Figure 2). Two months after her last follow-up, the patient visited our hospital for diplopia in the right eye and right facial numbness, and the MRI examination revealed a mass in the right trigeminal nerve area, which was considered trigeminal schwannoma (Figure 2A). Microscopic examination revealed that the tumor was spindle cell sarcoma (Figure 2B), which was diffusely expressed of CD34, vimentin, S-100, and Pan-TRK (Figures 2C,D), but negative for SOX10, EMA, SSTR2, PR, and STAT6.
(A-D) Images of the vagina tumor. (A) The pelvic MRI (sagittal T1-weighted images with contrast) showing homogenous enhancement from the posterior vagina to the vulva with approximately 1.5 x 1.6 cm, which was considered tumor recurrence. (B) H&E-stained (200x): the tumor tissue is composed of predominantly monomorphic spindled cells arranged in bundles, sheets, or zigzag. The nuclei are oval, chromatin vacuolated, nucleoli are not evident, mitosis is easy to see, and no necrosis. (C) IHC of S-100 (200x) was positive. (D) IHC of Pan-TRK (200x) was strongly positive.
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F3
To assess the condition of the lungs, the patient received the chest CT scan, which showed multiple metastatic lesions in both lungs, and the largest lesion was approximately 1.9 x 2.4 cm (Supplementary Figure 3). One month later, the patient presented vaginal bleeding, a gynecological examination found a mass protruding from the vaginal external orifice, and MRI revealed a 1.5 x 1.6 cm mass from the posterior of the vagina to the vulva, which was considered tumor recurrence (Figure 3A). Microscopically, the resected specimen was also composed of spindle cells (Figure 3B) and showed strongly positive for Pan-TRK, S-100, CD34, and vimentin but negative for SOX10 and desmin (Figures 3C,D).