Ramírez Calas Ramon Andres, González Millán Tania, Mohammed Sheriff, Azahares Leal German, Amadu Munira, Sadat Seidu Anwar
Department of Surgery, Tamale Teaching Hospital, Box TL 16, Tamale, Ghana; Department of Surgery, School of Medicine and Health Science, University for Development Studies, Box TL 1350, Tamale, Ghana.
Department of Anatomy, School of Medicine and Health Science, University for Development Studies, Box TL 1350, Tamale, Ghana.
Int J Surg Case Rep. 2023 Jul;108:108427. doi: 10.1016/j.ijscr.2023.108427. Epub 2023 Jun 21.
Childhood colorectal cancers are extremely rare and so is Osteochondromatosis. Both diseases do not have epidemiological records in African countries. The aim of this report is to present a rare coexistence of CRC and multiple enchondromas in a child.
A case of a 12-year-old boy who presented with a large bowel obstruction secondary to an advanced tumor of the descending colon. He was also diagnosed with multiple osteochondromas affecting legs, arms, ribs, scapula, clavicle and pelvis. No positive family history was recorded. An urgent left hemicolectomy and diverting transverse colostomy was done. The colon can as stage IIIB and the patient received adjuvant chemotherapy. After 8 months of follow up, the colostomy was successfully reversed without any endoscopic signs of tumor growth or distant metastasis.
Colorectal cancer in childhood is rare. It may present with aggressive histological subtypes in children as compared to adults. There is little to no reports on the coexistence of colorectal cancer and multiple Osteochondromatosis. Microsatellite instability in DNA tumor is common in Colon Cancer and variety of mutations of EXT-1 and EXT-2 genes goes with Enchondromatosis.
The coexistence of two rare conditions is the remarkable issue in this case report. There are no prior reports in literature. Further genomic sequencing maybe required to better understand this coexistence.
儿童结直肠癌极为罕见，骨软骨瘤病亦是如此。这两种疾病在非洲国家均无流行病学记录。本报告旨在呈现一名儿童中罕见的结直肠癌与多发内生软骨瘤并存的病例。
一名12岁男孩，因降结肠晚期肿瘤继发大肠梗阻前来就诊。他还被诊断出患有累及腿部、手臂、肋骨、肩胛骨、锁骨和骨盆的多发骨软骨瘤。未记录到阳性家族史。实施了紧急左半结肠切除术及转流性横结肠造口术。结肠病理分期为IIIB期，患者接受了辅助化疗。随访8个月后，成功回纳结肠造口，未发现任何肿瘤生长或远处转移的内镜迹象。
儿童结直肠癌罕见。与成人相比，儿童患者可能表现出侵袭性组织学亚型。关于结直肠癌与多发骨软骨瘤病并存的报道极少。DNA肿瘤中的微卫星不稳定性在结肠癌中常见，而EXT - 1和EXT - 2基因的多种突变与内生软骨瘤病相关。
两种罕见病症并存是本病例报告中的显著问题。文献中此前并无相关报道。可能需要进一步进行基因组测序以更好地理解这种并存情况。
