促结缔组织增生性小圆细胞肿瘤术后复发伴脊柱内进展：病例报告及文献复习。
Desmoplastic Small Round Cell Tumor With Ascending Intraspinal Metastasis at Recurrence: Case Report and Review of the Literature.
机构信息
Departments of Pediatrics.
Department of Pediatrics, University of Western Ontario, London, ON, Canada.
出版信息
J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e561-e566. doi: 10.1097/MPH.0000000000002138.
BACKGROUND
Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive malignancy commonly involving the abdomen and/or pelvic peritoneum. Despite aggressive therapy, the prognosis remains poor. Central nervous system relapse is rare in abdominal/pelvic primary DSRCT.
OBSERVATION
We report a case of a 10-year-old female with a large pelvic DSRCT and involvement of the rectosigmoid colon and liver. Following treatment with chemotherapy, and cytoreductive surgery with hyperthermic intraperitoneal chemotherapy an initial response was noted. With progressive lower limb weakness, recurrence with perineural invasion in the lumbosacral nerve root involving the conus was noted 2.5 years from diagnosis. Cerebrospinal fluid showed tumor cells with a molecular confirmation.
CONCLUSIONS
Perineural invasion and ascending paralysis secondary to primary abdominal DSRCT has not been previously reported to our knowledge. We recommend a high index of suspicion for early and accurate diagnosis of this rare presentation.
背景
促结缔组织增生性小圆细胞肿瘤（DSRCT）是一种罕见且侵袭性强的恶性肿瘤，通常累及腹部和/或盆腔腹膜。尽管采用了积极的治疗方法，预后仍然很差。在腹部/盆腔原发性 DSRCT 中，中枢神经系统复发较为罕见。
观察结果
我们报告了一例 10 岁女性患有大型盆腔 DSRCT，累及直肠乙状结肠和肝脏。在接受化疗以及细胞减灭术联合腹腔内热化疗后，观察到初始缓解。诊断后 2.5 年，出现进行性下肢无力，腰骶神经根的神经周围侵犯累及圆锥。脑脊液显示有肿瘤细胞，分子学检测结果也证实了这一点。
结论
据我们所知，原发性腹部 DSRCT 引起的神经周围侵犯和上行性瘫痪此前尚未有报道。我们建议对此种罕见表现保持高度警惕，以便早期、准确地诊断。
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