背景:先天性角化病(DKC),也被称为辛瑟-科尔-恩格曼综合征,是一种渐进性遗传病,具有网状皮肤色素沉着三联症,指甲营养不良,和白斑.大约8-10%的DKC患者发展为恶性肿瘤,先前已经报道了年轻人中DKC的结直肠癌病例。
方法:一名25岁患有DKC的男子自大约10岁起出现发烧和下腹部不适。影像学诊断显示局部晚期直肠癌伴淋巴结转移,直接侵入前列腺,和盆腔脓肿由于肿瘤微穿孔(cT4bN2M0cStageIIIC)。活检显示中分化导管腺癌。RAS和BRAF基因突变基因检测呈阴性,微卫星不稳定性(MSI)测试也呈阴性。乙状结肠造口术后,患者接受全新辅助治疗(TNT)+全身化疗(6个疗程的FOLFOX+帕尼单抗),随后接受放化疗(50.4Gy+卡培他滨).在TNT之后,原发性肿瘤和转移性淋巴结缩小。根据结肠镜检查和磁共振成像(MRI)的发现,我们诊断为接近完全缓解(near-CR),并决定每3个月对患者进行随访,不进行手术治疗.然而,TNT后5个月,在结肠镜检查和成像中检测到肿瘤再生,患者接受了全盆腔切除术。他发展为麻痹性肠梗阻作为术后并发症,术后第38天出院。病理检查显示残留肿瘤侵犯前列腺周围组织。直肠旁和盆腔外侧淋巴结无转移,但观察到一个壁外非连续癌变延伸(肿瘤沉积)(ypT4bN1cM0ypIIIC期)。患者手术后一年无复发。
结论:DKC通常在早期发展为消化系统的各种肿瘤;因此,可能需要适当的监督。此外,考虑到DKC患者的癌症发生在年轻的时候,生育力保护和生存也很重要,治疗前后应向患者提供充分的解释和护理。
BACKGROUND: Dyskeratosis congenita (DKC), also known as Zinsser-Cole-Engman syndrome, is a progressive genetic disease with a triad of reticulate skin pigmentation, nail dystrophy, and leukoplakia. Approximately 8-10% of patients with DKC develop malignancies, and cases of colorectal cancer with DKC in young people have been reported previously.
METHODS: A 25-year-old man with DKC since approximately 10 years of age developed fever and lower abdominal discomfort. Diagnostic imaging revealed locally advanced rectal cancer with lymph node metastasis, direct invasion of the prostate, and pelvic abscess due to tumor microperforation (cT4bN2M0 cStage IIIC). Biopsy showed well to moderately differentiated ductal adenocarcinoma. Genetic testing was negative for RAS and BRAF gene mutations, and microsatellite instability (MSI) testing was also negative. After sigmoid colostomy, the patient was treated with total neoadjuvant therapy (TNT) with systemic chemotherapy (six courses of FOLFOX + panitumumab) followed by chemoradiation therapy (50.4 Gy with capecitabine). After TNT, the primary tumor and metastatic lymph nodes shrank. According to the findings of colonoscopy and magnetic resonance image (MRI), we diagnosed near complete response (near-CR) and decided to follow the patient without surgery by every 3 months re-evaluation. However, 5 months after TNT, tumor regrowth was detected on colonoscopy and imaging, and the patient underwent total pelvic exenteration. He developed paralytic ileus as a postoperative complication, and was discharged on the 38th postoperative day. Pathological examination revealed a residual tumor with invasion of the periprostatic tissue. There was no metastasis in the pararectal and lateral pelvic lymph nodes, but one extramural non-contiguous cancerous extension (tumor deposit) was observed (ypT4bN1cM0 ypStage IIIC). The patient has been free of recurrence for one year after surgery.
CONCLUSIONS: DKC often develops into various tumors in the digestive system at an early age; therefore, appropriate surveillance may be required. In addition, considering that cancers in patients with DKC occur at a young age, fertility preservation and survivorship are also important, and adequate explanations and care should be provided to patients before and after treatment.