Ono Kosuke, Hiyoshi Yukiharu, Ono Asuka, Ouchi Mayuko, Kosumi Keisuke, Eto Kojiro, Ida Satoshi, Iwatsuki Masaaki, Baba Yoshifumi, Miyamoto Yuji, Kajihara Ikko, Tanaka Kazuhito, Miyasato Yuko, Baba Hideo
Department of Gastroenterological Surgery, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-8556, Japan.
Department of Dermatology, Kumamoto University Hospital, Kumamoto, Japan.
Surg Case Rep. 2024 Sep 6;10(1):206. doi: 10.1186/s40792-024-01985-9.
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.
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.
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.
先天性角化不良（DKC），也称为津瑟 - 科尔 - 恩格曼综合征，是一种进行性遗传病，具有网状皮肤色素沉着、指甲营养不良和黏膜白斑三联征。约8% - 10%的DKC患者会发生恶性肿瘤，此前已有年轻人患DKC合并结直肠癌的病例报道。
一名自10岁左右起患有DKC的25岁男性出现发热和下腹部不适。诊断性影像学检查显示局部晚期直肠癌伴淋巴结转移、肿瘤微穿孔导致前列腺直接侵犯及盆腔脓肿（cT4bN2M0，c分期IIIC期）。活检显示为中分化至高分化导管腺癌。RAS和BRAF基因突变检测为阴性，微卫星不稳定性（MSI）检测也为阴性。在乙状结肠造口术后，患者接受了新辅助综合治疗（TNT），包括全身化疗（六疗程FOLFOX + 帕尼单抗），随后进行放化疗（50.4 Gy联合卡培他滨）。TNT治疗后，原发肿瘤和转移淋巴结缩小。根据结肠镜检查和磁共振成像（MRI）结果，我们诊断为接近完全缓解（near - CR），并决定每3个月进行一次重新评估，不进行手术随访该患者。然而，TNT治疗5个月后，结肠镜检查和影像学检查发现肿瘤复发，患者接受了全盆腔脏器切除术。他术后出现麻痹性肠梗阻并发症，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，但观察到一处壁外不连续癌性扩展（肿瘤结节）（ypT4bN1cM0，yp分期IIIC期）。患者术后一年无复发。
DKC常早年发展为消化系统的各种肿瘤；因此，可能需要进行适当的监测。此外，考虑到DKC患者的癌症发病年龄较轻，保留生育能力和提高生存率也很重要，治疗前后应向患者提供充分的解释和护理。
