Wild Hannah, Liebmann Alexandra, Maennel Lucas, Maschke Linda, Block Andreas, Kager Leo, Kontny Udo, Agaimy Abbas, Kuhlen Michaela, Redlich Antje, Schmidt Andreas, Fuchs Jörg, Schneider Dominik T, Brecht Ines B, Abele Michael
Pediatric Hematology and Oncology, Children's Hospital, Eberhard-Karls-Universität Tübingen, Tübingen, Germany.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Pediatr Blood Cancer. 2025 Aug;72(8):e31830. doi: 10.1002/pbc.31830. Epub 2025 Jun 2.
Colorectal cancer (CRC) accounts for 10% of cancer cases worldwide; however, pediatric CRC is extremely rare, with an annual incidence of one to two cases per million. Microsatellite instability (MSI) has been shown to play a relevant prognostic role in adult CRC. Corresponding data for pediatric CRC are lacking. This study examines MSI in pediatric CRC.
Patient-, tumor-, and treatment-related data of patients less than 18 years with CRC enrolled in the German Registry for Rare Pediatric Tumors (STEP) between 2005 and 2023 were analyzed and compared with data on patients less than 30 years with CRC and known MSI status from the Surveillance, Epidemiology, and End Results Program (SEER).
Forty-one patients with CRC were recorded in STEP. Cancer predisposition syndromes were identified in 52% of tested cases, especially in CRC with MSI (84.6%). The SEER cohort included 803 CRC patients under 30 years, 52 of whom were under 20 years. Most cases were at an advanced stage at diagnosis, with localized disease being rare (STEP: 4.9%, SEER: 16.4%). The 5-year overall survival (OS) of STEP patients was 47.9% ± 9.7%. MSI was observed in 37.5% (STEP) and 32.7% (SEER <20 years) of patients. CRCs with MSI had lower rates of distant metastases and were associated with a significantly better survival (STEP 5-year OS: MSI 85.1% ± 9.7% vs. no-MSI 28.3% ± 11.2%, p = 0.007).
While pediatric CRCs overall more often demonstrate advanced stages, unfavorable histology, and a poorer prognosis than adult CRC, MSI is more common in pediatric CRC and is associated with superior survival.
结直肠癌（CRC）占全球癌症病例的10%；然而，儿童结直肠癌极为罕见，年发病率为每百万分之一至两例。微卫星不稳定性（MSI）已被证明在成人结直肠癌中发挥相关的预后作用。儿童结直肠癌的相应数据尚缺。本研究检测儿童结直肠癌中的MSI。
分析2005年至2023年期间纳入德国罕见儿科肿瘤登记处（STEP）的18岁以下结直肠癌患者的患者、肿瘤和治疗相关数据，并与监测、流行病学和最终结果计划（SEER）中30岁以下结直肠癌患者且已知MSI状态的数据进行比较。
STEP记录了41例结直肠癌患者。在52%的检测病例中发现了癌症易感综合征，尤其是在MSI的结直肠癌中（84.6%）。SEER队列包括803例30岁以下的结直肠癌患者，其中52例年龄在20岁以下。大多数病例在诊断时处于晚期，局限性疾病罕见（STEP：4.9%，SEER：16.4%）。STEP患者的5年总生存率（OS）为47.9%±9.7%。37.5%（STEP）和32.7%（SEER<20岁）的患者观察到MSI。MSI的结直肠癌远处转移率较低，且与显著更好的生存率相关（STEP 5年OS：MSI为85.1%±9.7%，非MSI为28.3%±11.2%，p=0.007）。
虽然儿童结直肠癌总体上比成人结直肠癌更常表现为晚期、组织学不良和预后较差，但MSI在儿童结直肠癌中更常见，且与更好的生存率相关。
