Balajthy Zsófia, Almási Szintia, Lantos Tamás, Kuthi Levente, Deftereos Georgios, Choi Won-Tak, Sejben Anita
Department of Pathology, Albert Szent-Györgyi Medical School, University of Szeged, 6725 Szeged, Hungary.
Department of Medical Physics and Informatics, Albert Szent-Györgyi Medical School, University of Szeged, 6720 Szeged, Hungary.
Int J Mol Sci. 2025 Jun 13;26(12):5704. doi: 10.3390/ijms26125704.
The clinicopathologic and molecular features of serrated lesions with dysplasia in inflammatory bowel disease (IBD) remain poorly understood. We examined a total of 2396 patients treated for IBD at the University of Szeged between 2011 and 2023. Among them, 177 (7%) patients were diagnosed with colorectal neoplasia, of which only 11 (6%) had serrated dysplasia (n = 13). Of the 13 lesions, 5 (38%) showed features of sessile serrated lesion (SSL)-like dysplasia; 1 (8%) exhibited characteristics of traditional serrated adenoma (TSA)-like dysplasia; 6 (46%) were classified as serrated dysplasia, not otherwise specified (NOS); and 1 (8%) displayed mixed features of SSL-like and TSA-like dysplasias. At the time of the serrated dysplasia diagnosis, the mean age of the patients was 56 years. Ten (91%) patients had ulcerative colitis, and one (9%) had Crohn's disease. Pancolitis was observed in seven (64%) patients. The mean duration of IBD at the time of the serrated dysplasia diagnosis was 26 years. Most lesions (n = 9; 69%) were found in the left colon, including SSL-like dysplasia (3/5; 60%) and serrated dysplasia NOS (5/6, 83%). Eleven (85%) lesions had a polypoid endoscopic appearance. The mean size of the serrated dysplasia was 0.8 cm. Most lesions (n = 8; 62%) showed low-grade dysplasia. Serrated dysplasia was often associated with conventional (n = 3; 27%) or nonconventional dysplasia (n = 3; 27%). During the follow-up, 5 (45%) of the 11 patients developed colorectal cancer, including 3 patients with serrated dysplasia NOS, 1 with SSL-like dysplasia, and 1 with TSA-like dysplasia. Whole-exome sequencing revealed that the SSL-like dysplasia harbored mutations in (p.V600E), and/or , whereas the serrated dysplasia NOS showed mutations in (p.G469A), , and/or . One patient with both SSL-like dysplasia and mixed SSL-like/TSA-like dysplasia carried a pathogenic (p.R217H) mutation, along with mutations in . Serrated dysplasia was rare in IBD, with a prevalence rate of 6%. The SSL-like dysplasia exhibited distinct clinicopathologic and molecular characteristics compared with its sporadic counterpart. Similarly, serrated dysplasia NOS displayed unique molecular features compared with SSL-like dysplasia and could carry a higher risk of malignancy.
炎症性肠病（IBD）中伴有发育异常的锯齿状病变的临床病理和分子特征仍知之甚少。我们对2011年至2023年间在塞格德大学接受IBD治疗的2396例患者进行了检查。其中，177例（7%）患者被诊断为结直肠肿瘤，其中只有11例（6%）有锯齿状发育异常（n = 13）。在这13个病变中，5个（38%）表现为无蒂锯齿状病变（SSL）样发育异常的特征；1个（8%）表现出传统锯齿状腺瘤（TSA）样发育异常的特征；6个（46%）被归类为未另行指定的锯齿状发育异常（NOS）；1个（8%）表现出SSL样和TSA样发育异常的混合特征。在诊断锯齿状发育异常时，患者的平均年龄为56岁。10例（91%）患者患有溃疡性结肠炎，1例（9%）患有克罗恩病。7例（64%）患者观察到全结肠炎。在诊断锯齿状发育异常时，IBD的平均病程为26年。大多数病变（n = 9；69%）发现于左半结肠，包括SSL样发育异常（3/5；60%）和锯齿状发育异常NOS（5/6，83%）。11个（85%）病变在内镜下呈息肉样外观。锯齿状发育异常的平均大小为0.8 cm。大多数病变（n = 8；62%）表现为低级别发育异常。锯齿状发育异常常与传统（n = 3；27%）或非传统发育异常（n = 3；27%）相关。在随访期间，11例患者中有5例（45%）发生了结直肠癌，包括3例锯齿状发育异常NOS患者、1例SSL样发育异常患者和1例TSA样发育异常患者。全外显子测序显示，SSL样发育异常在（p.V600E）、 和/或 中有突变，而锯齿状发育异常NOS在（p.G469A）、 和/或 中有突变。1例同时患有SSL样发育异常和SSL样/TSA样混合发育异常的患者携带致病性 （p.R217H）突变，以及 中的突变。锯齿状发育异常在IBD中很少见，患病率为6%。与散发性对应病变相比，SSL样发育异常表现出独特的临床病理和分子特征。同样，与SSL样发育异常相比，锯齿状发育异常NOS表现出独特分子特征，且可能具有更高的恶性风险。
