PDF(Pubmed)
Abstract：
UNASSIGNED: Mutations of CHEK2 are usually inherited and have been implicated in breast cancers, colorectal cancers, thyroid cancers, kidney cancers, and prostate cancers. The CHEK2 gene codes for checkpoint kinase 2 protein which is an effector in the ATM-CHEK2-p53 pathway and responds to DNA double-strand breaks.
UNASSIGNED: We describe a unique case of a 29-year-old Canadian female who presented with synchronous papillary thyroid carcinoma and rectal adenocarcinoma who was subsequently found to have a sporadic CHEK2 (checkpoint kinase 2) mutation. She presented with an 8-month history of bright red blood per rectum and saw two different physicians who diagnosed hemorrhoids and possible rectal ulcers, respectively. When the symptoms continued, the patient pursued a colonoscopy exam which found a large rectal tumor. Subsequent clinical staging diagnosed a rectal adenocarcinoma and a synchronous papillary thyroid carcinoma. Due to her synchronous tumors, a genetic panel was performed, which revealed a low-risk CHEK2 mutation. Our patient had a full response to neoadjuvant brachytherapy of the rectum and surgical treatment of her cancers.
UNASSIGNED: This is the first case report, to our knowledge, of a patient with a CHEK2 mutation who presented with synchronous papillary thyroid carcinoma and invasive colonic adenocarcinoma. The incidence of colorectal cancers and papillary thyroid cancers in those under 30 with no family history is very low, which signifies the rarity of their simultaneous occurrence at such a young age.
UNASSIGNED: We describe a unique case of a 29-year-old Canadian female who presented with synchronous papillary thyroid carcinoma and rectal adenocarcinoma who was subsequently found to have a sporadic CHEK2 (checkpoint kinase 2) mutation. She presented with an 8-month history of bright red blood per rectum and saw two different physicians who diagnosed hemorrhoids and possible rectal ulcers, respectively. When the symptoms continued, the patient pursued a colonoscopy exam which found a large rectal tumor. Subsequent clinical staging diagnosed a rectal adenocarcinoma and a synchronous papillary thyroid carcinoma. Due to her synchronous tumors, a genetic panel was performed, which revealed a low-risk CHEK2 mutation. Our patient had a full response to neoadjuvant brachytherapy of the rectum and surgical treatment of her cancers.
UNASSIGNED: This is the first case report, to our knowledge, of a patient with a CHEK2 mutation who presented with synchronous papillary thyroid carcinoma and invasive colonic adenocarcinoma. The incidence of colorectal cancers and papillary thyroid cancers in those under 30 with no family history is very low, which signifies the rarity of their simultaneous occurrence at such a young age.
摘要：
■CHEK2的突变通常是遗传的，并且与乳腺癌有关，结直肠癌,甲状腺癌,肾癌,和前列腺癌。CHEK2基因编码检查点激酶2蛋白，该蛋白是ATM-CHEK2-p53途径中的效应子，并响应DNA双链断裂。
■我们描述了一例29岁加拿大女性的独特病例，她同时患有甲状腺乳头状癌和直肠腺癌，随后被发现有一个零星的CHEK2（检查点激酶2）突变。她每个直肠都有8个月的鲜红色血液史，并看了两位不同的医生，他们诊断出痔疮和可能的直肠溃疡，分别。当症状持续时，患者进行结肠镜检查，发现一个大的直肠肿瘤。随后的临床分期诊断为直肠腺癌和同步乳头状甲状腺癌。由于她的同步肿瘤，进行了一个遗传小组，这揭示了一个低风险的CHEK2突变。我们的患者对直肠的新辅助近距离放射治疗和癌症的手术治疗有充分的反应。
■这是首例病例报告,根据我们的知识，1例CHEK2突变患者同时伴有甲状腺乳头状癌和侵袭性结肠腺癌。在30岁以下无家族史的人群中，结直肠癌和甲状腺乳头状癌的发病率很低，这意味着它们在如此年轻的时候同时发生的罕见。
■我们描述了一例29岁加拿大女性的独特病例，她同时患有甲状腺乳头状癌和直肠腺癌，随后被发现有一个零星的CHEK2（检查点激酶2）突变。她每个直肠都有8个月的鲜红色血液史，并看了两位不同的医生，他们诊断出痔疮和可能的直肠溃疡，分别。当症状持续时，患者进行结肠镜检查，发现一个大的直肠肿瘤。随后的临床分期诊断为直肠腺癌和同步乳头状甲状腺癌。由于她的同步肿瘤，进行了一个遗传小组，这揭示了一个低风险的CHEK2突变。我们的患者对直肠的新辅助近距离放射治疗和癌症的手术治疗有充分的反应。
■这是首例病例报告,根据我们的知识，1例CHEK2突变患者同时伴有甲状腺乳头状癌和侵袭性结肠腺癌。在30岁以下无家族史的人群中，结直肠癌和甲状腺乳头状癌的发病率很低，这意味着它们在如此年轻的时候同时发生的罕见。
