Management of locally advanced lynch syndrome rectal cancer during pregnancy with neoadjuvant immunochemotherapy: a case report.
Source: PubMed, NCBI / U.S. National Library of Medicine
Lynch syndrome (LS) is a hereditary cancer predisposition syndrome. Colorectal cancer during pregnancy is extremely rare, and LS-associated cases pose unique diagnostic and therapeutic challenges due to maternal-fetal and genetic considerations. A 37-year-old woman at 22 + 5 weeks of gestation presented with hematochezia. Ultrasonography and pelvic MRI revealed a 7.2 × 6.3 × 6.1 cm rectal mass with multiple enlarged pelvic lymph nodes posterior to the gravid uterus. Colonoscopy confirmed an ulcerative lesion 10 cm from the anal verge. Histopathology and immunohistochemistry (MLH1-/PMS2-/MSH2+/MSH6+) confirmed LS-associated rectal adenocarcinoma. Given the poor fetal viability and potential teratogenic effects of systemic therapy, medical termination was performed. The patient subsequently underwent neoadjuvant chemoradiotherapy (50.4 Gy in 28 fractions) combined with two cycles of capecitabine plus oxaliplatin (CapeOx) and tislelizumab, achieving significant tumor regression (yT2N0M0). Laparoscopic Dixon surgery revealed a 2.5 × 1.5 × 1.0 cm ulcerative lesion, corresponding to Tumor Regression Grade (TRG) 1. Six cycles of adjuvant CapeOx with tislelizumab were completed. No severe adverse events occurred, and at 24 months follow-up, the patient remains disease-free. LS-associated rectal cancer during pregnancy requires individualized, multidisciplinary management. Medical termination followed by neoadjuvant immunochemoradiotherapy
Abstract
Lynch syndrome (LS) is a hereditary cancer predisposition syndrome. Colorectal cancer during pregnancy is extremely rare, and LS-associated cases pose unique diagnostic and therapeutic challenges due to maternal-fetal and genetic considerations. A 37-year-old woman at 22 + 5 weeks of gestation presented with hematochezia. Ultrasonography and pelvic MRI revealed a 7.2 × 6.3 × 6.1 cm rectal mass with multiple enlarged pelvic lymph nodes posterior to the gravid uterus. Colonoscopy confirmed an ulcerative lesion 10 cm from the anal verge. Histopathology and immunohistochemistry (MLH1-/PMS2-/MSH2+/MSH6+) confirmed LS-associated rectal adenocarcinoma. Given the poor fetal viability and potential teratogenic effects of systemic therapy, medical termination was performed. The patient subsequently underwent neoadjuvant chemoradiotherapy (50.4 Gy in 28 fractions) combined with two cycles of capecitabine plus oxaliplatin (CapeOx) and tislelizumab, achieving significant tumor regression (yT2N0M0). Laparoscopic Dixon surgery revealed a 2.5 × 1.5 × 1.0 cm ulcerative lesion, corresponding to Tumor Regression Grade (TRG) 1. Six cycles of adjuvant CapeOx with tislelizumab were completed. No severe adverse events occurred, and at 24 months follow-up, the patient remains disease-free. LS-associated rectal cancer during pregnancy requires individualized, multidisciplinary management. Medical termination followed by neoadjuvant immunochemoradiotherapy can optimize maternal outcomes while minimizing fetal and genetic risks.