Case Report: A case of COL1A1–PDGFB fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma

Abstract

COL1A1–PDGFB gene fusion uterine sarcoma is an especially rare malignant mesenchymal tumor that was previously classified as an undifferentiated uterine sarcoma due to the lack of specific features of differentiation. Till now, only five cases have been reported, and here we presented another case recently diagnosed in a Chinese woman who had vaginal bleeding. She presented with a cervical mass at the anterior lip of the cervix invading the vagina and was treated with laparoscopic total hysterectomy plus bilateral salpingo-oophorectomy (TH+BSO) and partial vaginal wall resection with the final pathology of COL1A1–PDGFB fusion uterine sarcoma. Our aim is to emphasize the importance of differential diagnosis of this rare tumor, as early precise diagnosis may allow patients to benefit from the targeted therapy imatinib. This article also serves as further clinical evidence of this disease, serving to increase clinical awareness of this rare sarcoma to avoid misdiagnosis.

COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation

“…5 Moreover, mutated-type p53 was found in 50% (2/4) of COL1A1::PDGFB fusion uterine sarcomas. 11,12,14 Interestingly, pan-TRK showed focal staining in this case.…”

“…The tumor location was markedly predisposed to the cervix. 10,13,14 Histologically, most cases showed predominantly storiform and herringbone patterns resembling soft-tissue DFSP, specifically the subtype of FS-DFSP. It should be noted that the current case focally displayed a myxofibrosarcoma-like appearance that was not related to the other seven historical cases.…”

“…After thoroughly reviewing the published English literature, we summarized the clinicopathology and cytogenetic features of a total of eight COL1A1::PDGFB fusion uterine sarcomas (including the current case) to date (Table 1). 10–14 For clinical features, the eight recorded female patients were of middle to old age (range 43 to 82‐years‐old). The tumor location was markedly predisposed to the cervix 10,13,14 .…”

“…In addition, over the past few years, COL1A1::PDGFB rearrangement has been revealed in a unique subtype of sarcoma primary from the uterus that was classified into the category of COL1A1::PDGFB fusion‐positive uterine sarcoma 10 . To the best of our knowledge, only seven cases of COL1A1::PDGFB fusion uterine sarcomas have been reported to date 10–14 . However, subsequent diagnosis remains a conundrum with limited awareness of the clinicopathologic features and the genomic landscape.…”

“…10 To the best of our knowledge, only seven cases of COL1A1::PDGFB fusion uterine sarcomas have been reported to date. [10][11][12][13][14] However, subsequent diagnosis remains a conundrum with limited awareness of the clinicopathologic features and the genomic landscape.…”