PDF(Pubmed)
Abstract：
BACKGROUND: In Cri du Chat (CdC), cancer as comorbidity is extremely rare. In databases from Denmark, Spain, Australia, New Zealand, and Japan, no cancer was reported; in Italy and Germany, four cancers were identified out of 321 CdCs.
METHODS: In a 29-year-old CdC patient, clinical investigations following hematemesis led to the diagnosis of esophageal adenocarcinoma (EAC). A high pain threshold was also observed. Conventional and molecular cytogenetic defined the size of the deletion, and exome analysis on the trio completed the molecular work.
RESULTS: Cytogenetic analysis showed a de novo chromosomal alteration: 46,XY,ishdel(5)(p14.3)(D5S28-) and arr[GRCh37] 5p15.33p14.3(1498180_19955760)x1. A quantitative sensory test demonstrated a high heat threshold. A 18f-fluorodeoxyglucose PET/TC scan of the brain failed to detect reduction of metabolism in the somatosensory area or insular cortex. Exome analysis in the trio (patient and parents) failed to identify variants to be interpreted as a likely risk factor for EAC.
CONCLUSIONS: We conclude that the presence of well-known risk factors (maleness, obesity, gastroesophageal reflux, and Barrett\'s metaplasia) in a patient with very limited capability of expressing discomfort or referring clinical symptoms have been the main risk factors for developing EAC. At present, based on the available data, there is no evidence of any increased risk of developing cancer in CdC patients.
METHODS: In a 29-year-old CdC patient, clinical investigations following hematemesis led to the diagnosis of esophageal adenocarcinoma (EAC). A high pain threshold was also observed. Conventional and molecular cytogenetic defined the size of the deletion, and exome analysis on the trio completed the molecular work.
RESULTS: Cytogenetic analysis showed a de novo chromosomal alteration: 46,XY,ishdel(5)(p14.3)(D5S28-) and arr[GRCh37] 5p15.33p14.3(1498180_19955760)x1. A quantitative sensory test demonstrated a high heat threshold. A 18f-fluorodeoxyglucose PET/TC scan of the brain failed to detect reduction of metabolism in the somatosensory area or insular cortex. Exome analysis in the trio (patient and parents) failed to identify variants to be interpreted as a likely risk factor for EAC.
CONCLUSIONS: We conclude that the presence of well-known risk factors (maleness, obesity, gastroesophageal reflux, and Barrett\'s metaplasia) in a patient with very limited capability of expressing discomfort or referring clinical symptoms have been the main risk factors for developing EAC. At present, based on the available data, there is no evidence of any increased risk of developing cancer in CdC patients.
摘要：
背景：在CriduChat（CdC）中，癌症作为合并症极为罕见。在丹麦的数据库中，西班牙,澳大利亚,新西兰,和日本,没有癌症的报道；在意大利和德国，在321种CdCs中鉴定出4种癌症。
方法：在一名29岁的CdC患者中，呕血后的临床研究导致食管腺癌（EAC）的诊断。还观察到高疼痛阈值。常规和分子细胞遗传学定义了缺失的大小，和外显子组分析完成了三人的分子工作。
结果：细胞遗传学分析显示从头染色体改变：46，XY，ishdel（5）（p14.3）（D5S28-）和ARR[GRCh37]5p15.33p14.3（1498180_19955760）x1。定量感官测试显示出高的热阈值。对大脑进行的18f-氟代脱氧葡萄糖PET/TC扫描未能检测到体感区域或岛叶皮质的代谢减少。三人（患者和父母）的外显子组分析未能确定变体被解释为EAC的可能风险因素。
结论：我们得出结论，存在众所周知的危险因素(男性，肥胖，胃食管反流,和Barrett的化生）在表达不适或参考临床症状的能力非常有限的患者中一直是发生EAC的主要危险因素。目前,根据现有数据，没有证据表明CdC患者患癌症的风险增加.
方法：在一名29岁的CdC患者中，呕血后的临床研究导致食管腺癌（EAC）的诊断。还观察到高疼痛阈值。常规和分子细胞遗传学定义了缺失的大小，和外显子组分析完成了三人的分子工作。
结果：细胞遗传学分析显示从头染色体改变：46，XY，ishdel（5）（p14.3）（D5S28-）和ARR[GRCh37]5p15.33p14.3（1498180_19955760）x1。定量感官测试显示出高的热阈值。对大脑进行的18f-氟代脱氧葡萄糖PET/TC扫描未能检测到体感区域或岛叶皮质的代谢减少。三人（患者和父母）的外显子组分析未能确定变体被解释为EAC的可能风险因素。
结论：我们得出结论，存在众所周知的危险因素(男性，肥胖，胃食管反流,和Barrett的化生）在表达不适或参考临床症状的能力非常有限的患者中一直是发生EAC的主要危险因素。目前,根据现有数据，没有证据表明CdC患者患癌症的风险增加.
