PMC10042132_01
Low-power view of the tumor revealed relatively clear boundary (A, x40). Tumor cells were arranged in a more prominent storiform or herringbone pattern in the cellular view (B, x100), whereas in the cell-sparse area, more dilated small blood vessels can be seen. Normal cervical fibromuscular tissue not invaded by the tumor as pointed by the arrow (C, x100). Tumor nuclei in oval to spindle shape are shown in high-power view, and the cytoplasm appears sparse and eosinophilic. The nuclear heteromorphism appears mild to moderate, while mitoses are numerous and obvious (arrow) (D, x200). Immunohistochemical results including desmin, CD34, TRK, S100, ER, PR, and P53 are displayed (E-K, x200). The Ki-67 proliferation index was high (L, x200).
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MRI displayed an irregular exophytic mass on the cervix that presented slightly high signal intensity on T2-weighted imaging (T2WI) with significant enhancement ( Supplementary Figure 1 ), and cervical myoma was suspected for which malignancy could not be excluded. Microscopically, the tumor boundary was generally clear, while infiltration into the cervical mucosa and fibromyometrium was noticed locally ( Figure 1A ). The nuclei were oval- to spindle-shaped, and the cytoplasm was eosinophilic and scarce, with blurred cell boundaries ( Figure 1B ). However, some minor regions with sparse cell distribution and dilated small blood vessels were also seen ( Figure 1C ). Mitoses were relatively active, up to 30 per 10 high-power fields (HPF), with mild-to-moderate nuclear heteromorphism ( Figure 1D ). P53 was stained as wild type, and Ki-67 was expressed in 30% of tumor cells ( Figures 1E-L ).
COL1A1-PDGFB gene fusion was detected by RNA sequencing. Note the unbalanced breakpoints (arrows) on CH17q (COL1A1) and 22q (PDGFB).
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The tumor cross-section was firm, white, and whorled with relatively clear boundaries ( Supplementary Figure 2 ).