PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
METHODS: 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.
UNASSIGNED: 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.
CONCLUSIONS: 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.
METHODS: 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.
UNASSIGNED: 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.
CONCLUSIONS: 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.
摘要：
■儿童结直肠癌极为罕见，骨软骨瘤病也是如此。这两种疾病在非洲国家都没有流行病学记录。本报告的目的是介绍儿童中罕见的CRC和多个内生瘤共存。
方法：一例12岁男孩，继发于晚期降结肠肿瘤，出现大肠梗阻。他还被诊断患有累及腿部的多发性骨软骨瘤，武器,肋骨,肩胛骨,锁骨和骨盆.无阳性家族史记录。进行紧急左半结肠切除术和转移横结肠造口术。结肠可作为IIIB期,患者接受辅助化疗。经过8个月的随访，结肠造口术成功逆转,无任何肿瘤生长或远处转移的内镜征象.
■儿童时期的结直肠癌是罕见的。与成人相比，儿童可能具有侵袭性组织学亚型。关于结直肠癌和多发性骨软骨瘤病并存的报道很少或没有。DNA肿瘤中的微卫星不稳定性在结肠癌中很常见，EXT-1和EXT-2基因的各种突变与软骨瘤病有关。
结论：两种罕见情况的共存是该病例报告中的显着问题。文献中没有先前的报道。可能需要进一步的基因组测序以更好地理解这种共存。
方法：一例12岁男孩，继发于晚期降结肠肿瘤，出现大肠梗阻。他还被诊断患有累及腿部的多发性骨软骨瘤，武器,肋骨,肩胛骨,锁骨和骨盆.无阳性家族史记录。进行紧急左半结肠切除术和转移横结肠造口术。结肠可作为IIIB期,患者接受辅助化疗。经过8个月的随访，结肠造口术成功逆转,无任何肿瘤生长或远处转移的内镜征象.
■儿童时期的结直肠癌是罕见的。与成人相比，儿童可能具有侵袭性组织学亚型。关于结直肠癌和多发性骨软骨瘤病并存的报道很少或没有。DNA肿瘤中的微卫星不稳定性在结肠癌中很常见，EXT-1和EXT-2基因的各种突变与软骨瘤病有关。
结论：两种罕见情况的共存是该病例报告中的显着问题。文献中没有先前的报道。可能需要进一步的基因组测序以更好地理解这种共存。
