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肢端肥大症与胃肠道间质瘤、非小细胞肺癌、肾透明细胞癌、多发性骨髓瘤、延髓肿瘤、肾上腺腺瘤及甲状腺滤泡结节相关。

Acromegaly associated with GIST, non-small cell lung carcinoma, clear cell renal carcinoma, multiple myeloma, medulla oblongata tumour, adrenal adenoma, and follicular thyroid nodules.

作者信息

Jawiarczyk-Przybyłowska Aleksandra, Wojtczak Beata, Whitworth James, Sutkowski Krzysztof, Bidlingmaier Martin, Korbonits Márta, Bolanowski Marek

机构信息

Department of Endocrinology, Diabetes, and Isotope Therapy, Medical University Wroclaw, Wrocław, Poland.

Department of Endocrinological Surgery, Medical University Wroclaw, Wrocław, Poland.

出版信息

Endokrynol Pol. 2019;70(2):213-217. doi: 10.5603/EP.a2019.0005. Epub 2019 Feb 11.

Abstract

Acromegaly is associated with increased growth hormone (GH) and insulin-like growth factor-I (IGF-I) secretion which may support tumour development and growth. A 68-year-old woman was diagnosed with acromegaly due to typical clinical and hormonal characteristics. While contrast-enhanced MRI at diagnosis did not reveal a pituitary adenoma, a 5-mm lesion was identified on repeat scanning 13 months later. Abdominal and chest CT showed tumours of the stomach, right adrenal gland, and right lung. The CT also showed a hypodense lesion in the liver and heterogeneous echostructure of the thyroid gland with left lobe solid-cystic tumour. Somatostatin receptor scintigraphy revealed increased tracer accumulation in the right thyroid lobe. No tracer accumulation was noted at the location of the other tumours. The resected stomach, adrenal, chest, and thyroid lesions did not show GH secretion. The patient refused pituitary surgery, and her acromegaly is currently well-controlled with somatostatin analogue therapy. A CT scan 19 months later revealed a contrast-enhancing left kidney tumour that was a G1-grade clear cell carcinoma. Four years after the acromegaly diagnosis multiple myeloma were diagnosed with secondary renal amyloidosis. Genetic screening for a paraganglioma gene panel, AIP, MEN1, and CDKN1B mutations were negative. A next-generation cancer panel containing 94 cancer genes did not identify any possible unifying gene abnormality in her germline DNA. Coexistence of acromegaly and numerous other tumours suggests a common aetiology of these disorders. However, no genetic abnormality could be identified with the tests that have been performed.

摘要

肢端肥大症与生长激素(GH)和胰岛素样生长因子-I(IGF-I)分泌增加有关,这可能支持肿瘤的发生和生长。一名68岁女性因典型的临床和激素特征被诊断为肢端肥大症。诊断时的增强MRI未发现垂体腺瘤,但13个月后复查扫描发现一个5毫米的病变。腹部和胸部CT显示胃、右肾上腺和右肺有肿瘤。CT还显示肝脏有低密度病变,甲状腺回声结构不均匀,左叶有实性-囊性肿瘤。生长抑素受体闪烁显像显示右甲状腺叶放射性示踪剂摄取增加。其他肿瘤部位未发现放射性示踪剂摄取。切除的胃、肾上腺、胸部和甲状腺病变未显示GH分泌。患者拒绝垂体手术,目前她的肢端肥大症通过生长抑素类似物治疗得到良好控制。19个月后的CT扫描显示左肾有一个增强的肿瘤,为G1级透明细胞癌。肢端肥大症诊断四年后,诊断出多发性骨髓瘤并伴有继发性肾淀粉样变性。对副神经节瘤基因 panel、AIP、MEN1和CDKN1B突变进行的基因筛查均为阴性。一个包含94个癌症基因的下一代癌症panel未在她的生殖系DNA中发现任何可能的统一基因异常。肢端肥大症与众多其他肿瘤并存提示这些疾病有共同的病因。然而,已进行的检测未发现基因异常。

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