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Abstract：
Many studies show the occurrence of several multiple endocrine neoplasia syndromes caused by different mutations, for example, in MEN1 and RET genes. Nevertheless, there are less common mutations causing multiple endocrine glands tumors. Examples of such mutations are CHEK2 gene mutations, causing breast, kidney, gastric, colorectal, prostate, lung, ovarian, and thyroid cancers.
In 2005, a 30-year-old woman was admitted to the hospital due to uncontrolled hypertension and obesity. Performed tests have shown ACTH (adrenocorticotropic hormone)-independent micronodular adrenal hyperplasia (AIMAH) as a cause. In 2010, the further diagnostic analysis revealed Cushing\'s disease caused by ACTH-secreting pituitary microadenoma. Additionally, in 2011, the patient underwent the strumectomy of multinodular struma. Papillary thyroid carcinoma was found in the excised tissue. In 2018, transvaginal ultrasonography revealed a tumor of the right ovary. After a performed hysterectomy with bilateral salpingo-oophorectomy, the histopathology result has shown female adnexal tumors of probable Wolffian origin (FATWO) located in the broad ligament of the uterus. Due to the history of multiglandular diseases, the patient was referred to genetic testing. We found a positive pathogenic mutation in CHEK2-suppressor gene involved in DNA repair, cell cycle arrest, and apoptosis in response to DNA damage.
CHEK2 variants may predispose to a range of endocrine glands tumors, including those identified in our patient. Multiple endocrine glands tumors, as in the presented patient, are a serious problem of public health, due to numerous hospitalizations and necessary repeated surgical treatments. Moreover, the association between CHEK2 and ovarian cancer can be a serious problem with reproductive health.
In 2005, a 30-year-old woman was admitted to the hospital due to uncontrolled hypertension and obesity. Performed tests have shown ACTH (adrenocorticotropic hormone)-independent micronodular adrenal hyperplasia (AIMAH) as a cause. In 2010, the further diagnostic analysis revealed Cushing\'s disease caused by ACTH-secreting pituitary microadenoma. Additionally, in 2011, the patient underwent the strumectomy of multinodular struma. Papillary thyroid carcinoma was found in the excised tissue. In 2018, transvaginal ultrasonography revealed a tumor of the right ovary. After a performed hysterectomy with bilateral salpingo-oophorectomy, the histopathology result has shown female adnexal tumors of probable Wolffian origin (FATWO) located in the broad ligament of the uterus. Due to the history of multiglandular diseases, the patient was referred to genetic testing. We found a positive pathogenic mutation in CHEK2-suppressor gene involved in DNA repair, cell cycle arrest, and apoptosis in response to DNA damage.
CHEK2 variants may predispose to a range of endocrine glands tumors, including those identified in our patient. Multiple endocrine glands tumors, as in the presented patient, are a serious problem of public health, due to numerous hospitalizations and necessary repeated surgical treatments. Moreover, the association between CHEK2 and ovarian cancer can be a serious problem with reproductive health.
摘要：
许多研究表明，由不同突变引起的几种多发性内分泌瘤形成综合征的发生，例如,在MEN1和RET基因中。然而，有较少常见的突变导致多个内分泌腺肿瘤。这种突变的例子是CHEK2基因突变，导致乳房，肾,胃,结直肠,前列腺,肺，卵巢,和甲状腺癌。
2005年，一名30岁的妇女因高血压和肥胖失控而入院。进行的测试显示ACTH（促肾上腺皮质激素）非依赖性微结节性肾上腺增生（AIMAH）是原因。2010年，进一步的诊断分析显示库欣病由分泌ACTH的垂体微腺瘤引起。此外,2011年，患者接受了多结节性甲状腺肿的胸膜切除术。在切除的组织中发现了甲状腺乳头状癌。2018年，经阴道超声检查发现右卵巢肿瘤。行子宫切除术和双侧附件卵巢切除术后，组织病理学结果显示可能起源于Wolffian的女性附件肿瘤(FATWO)位于子宫阔韧带。由于多腺疾病的历史，病人接受基因检测。我们在CHEK2抑制基因中发现了一个与DNA修复有关的阳性致病突变，细胞周期停滞,和细胞凋亡对DNA损伤的反应。
CHEK2变体可能易患一系列内分泌腺肿瘤，包括那些在我们的病人身上确认的.多发性内分泌腺肿瘤，就像出现的病人一样，是一个严重的公共卫生问题，由于多次住院和必要的重复手术治疗。此外，CHEK2与卵巢癌之间的关联可能是生殖健康的严重问题.
2005年，一名30岁的妇女因高血压和肥胖失控而入院。进行的测试显示ACTH（促肾上腺皮质激素）非依赖性微结节性肾上腺增生（AIMAH）是原因。2010年，进一步的诊断分析显示库欣病由分泌ACTH的垂体微腺瘤引起。此外,2011年，患者接受了多结节性甲状腺肿的胸膜切除术。在切除的组织中发现了甲状腺乳头状癌。2018年，经阴道超声检查发现右卵巢肿瘤。行子宫切除术和双侧附件卵巢切除术后，组织病理学结果显示可能起源于Wolffian的女性附件肿瘤(FATWO)位于子宫阔韧带。由于多腺疾病的历史，病人接受基因检测。我们在CHEK2抑制基因中发现了一个与DNA修复有关的阳性致病突变，细胞周期停滞,和细胞凋亡对DNA损伤的反应。
CHEK2变体可能易患一系列内分泌腺肿瘤，包括那些在我们的病人身上确认的.多发性内分泌腺肿瘤，就像出现的病人一样，是一个严重的公共卫生问题，由于多次住院和必要的重复手术治疗。此外，CHEK2与卵巢癌之间的关联可能是生殖健康的严重问题.
