Locally advanced rectal cancer in a young adult affected with dyskeratosis congenita (Zinsser–Cole–Engman syndrome) - a case report

Sep 21, 2026

Background: Dyskeratosis congenita (DKC), also known as Zinsser–Cole–Engman syndrome, is a progressive genetic disease marked by reticulate skin pigmentation, nail dystrophy, and leukoplakia, with about 8–10% developing malignancies. Case presentation: A 25-year-old man with long-standing DKC developed fever and abdominal discomfort; imaging confirmed locally advanced rectal cancer with nodal disease, prostate invasion, and pelvic abscess. After total neoadjuvant therapy (FOLFOX + panitumumab, then chemoradiation), near-complete response led to nonoperative surveillance, followed by regrowth and total pelvic exenteration. Results included postoperative ileus and residual tumor invasion with staging ypT4bN1cM0 (ypStage IIIC), with no recurrence after one year. Conclusions: Early-onset digestive tumors in DKC warrant appropriate surveillance, and management should incorporate fertility preservation and survivorship planning.

LanguageEnglish

CategoryHealthcare

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Abstract

Background

Case presentation

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Introduction

Ono et al. Surgical Case Reports (2024) 10:206 [https://doi.org/10.1186/s40792-024-01985-9](https://doi.org/10.1186/s40792-024-01985-9) Surgical Case Reports CASE REPORT Open Access Locally advanced rectal cancer in a young adult affected with dyskeratosis congenita (Zinsser–Cole–Engman syndrome): a case report Kosuke Ono1, Yukiharu Hiyoshi 1, Asuka Ono1, Mayuko Ouchi1, Keisuke Kosumi 1, Kojiro Eto 1, Satoshi Ida 1, Masaaki Iwatsuki 1, Yoshifumi Baba 1, Yuji Miyamoto 1, Ikko Kajihara2, Kazuhito Tanaka3, Yuko Miyasato3 and Hideo Baba1* Abstract 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. Case presentation 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. Keywords Dyskeratosis congenita, Zinsser–Cole–Engman syndrome, Rectal cancer, Total neoadjuvant therapy, Nonoperative management, Watch and wait, Total pelvic exenteration *Correspondence: Hideo Baba [hdobaba@kumamoto-u.ac.jp](hdobaba@kumamoto-u.ac.jp) Full list of author information is available at the end of the article © The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly

FAQs

What disease underlies the patient’s rectal cancer case?

The patient had dyskeratosis congenita (DKC), also called Zinsser–Cole–Engman syndrome.

What treatment approach was used before surgery was considered?

He received total neoadjuvant therapy: systemic chemotherapy with six courses of FOLFOX plus panitumumab, followed by chemoradiation (50.4 Gy with capecitabine).

Why did the team proceed to total pelvic exenteration?

After a near-complete response and a watch-and-wait strategy, tumor regrowth was detected on colonoscopy and imaging five months after total neoadjuvant therapy.

Sep 21, 2026

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