从无功能肾上腺皮质癌到与 SDHB 基因突变有关的生化沉默副神经节瘤:腹膜后肿块患者的罕见表现。

IF 0.9 Q4 ENDOCRINOLOGY & METABOLISM Case Reports in Endocrinology Pub Date : 2024-08-02 eCollection Date: 2024-01-01 DOI:10.1155/2024/6664694
Izabella Freitas, Anna Albuquerque, Luiz de Marco, Eduardo, José Renan Melo, Juliana Drummond, Beatriz Rocha
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引用次数: 0

摘要

临床特征和诊断检查(包括影像学、实验室和分子检测)相结合有助于腹膜后病变的鉴别诊断。我们报告了一名 41 岁男性腹膜后转移性病变患者,该病变具有非典型特征,病理结果与非分泌性嗜铬细胞瘤/副神经节瘤和肾上腺皮质癌一致。患者因腹痛、体重减轻和高血压接受了检查。腹部计算机断层扫描显示,患者右侧腹膜后有一个 21 × 8 × 10 厘米的肿块。他最初被诊断为嗜铬细胞瘤/副神经节瘤(PHEO/PGL)。然而,后来根据转移病灶的组织病理学特征以及儿茶酚胺/甲肾上腺素尿液水平正常的结果,诊断改为肾上腺皮质癌。除了多次手术切除外,还进行了全身化疗和腹部放疗,但效果不理想。该病病程缓慢,对患者的表现状态影响极小,因此需要进行基因评估,结果发现琥珀酸脱氢酶复合体亚基 B(SDHB)存在种系突变。对先前切片进行的免疫组织学检查与神经内分泌肿瘤的假设一致。40%的 PHEO/PGL 患者有潜在的种系突变。SDHB 基因突变通常与转移性疾病和去甲肾上腺素和/或多巴胺的优势分泌有关。除了转移性疾病外,少数突变病例可能是生化沉默的 PHEO/PGL。我们的结论是,该患者的转移性腹腔副神经节瘤与SDHB突变有关,我们强调有必要对所有具有PHEO/PGL特征的肾上腺/肾上腺外病变进行基因筛查。
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From Nonfunctioning Adrenocortical Cancer to Biochemically Silent Paraganglioma Associated with SDHB Mutation: An Uncommon Presentation of a Patient with a Retroperitoneal Mass.

The combination of clinical characteristics and diagnostic exams including imaging, laboratory, and molecular tests help in the differential diagnosis of retroperitoneal lesions. We report a 41-year-old male with a metastatic retroperitoneal lesion with atypical characteristics, displaying pathological findings consistent with both nonsecretory pheochromocytomas/paragangliomas and adrenal cortex carcinoma. The patient was examined for abdominal pain, weight loss, and hypertension. Abdominal computed tomography showed a 21 × 8 × 10-cm right retroperitoneal mass. He was initially diagnosed as pheochromocytoma/paraganglioma (PHEO/PGL). However, the diagnosis was later changed to adrenocortical carcinoma based on histopathological features of the metastatic lesions and the findings of normal urinary levels of catecholamines/metanephrines. Systemic chemotherapy and abdominal radiotherapy were performed, in addition to multiple surgical resections, with no satisfactory response. The indolent course of the disease and minimal impact on the patient's performance status led to a genetic evaluation which resulted in the identification of a germline mutation in the succinate dehydrogenase complex subunit B (SDHB). An immunohistology review of previous slides was consistent with the hypothesis of a neuroendocrine tumor. Forty percent of the patients with PHEO/PGL have an underlying germline mutation. SDHB mutation is frequently associated with metastatic disease and dominant secretion of noradrenaline and/or dopamine. In addition to the metastatic disease, few cases with the mutations can be a biochemically silent PHEO/PGL. We concluded that the patient presented a metastatic abdominal paraganglioma associated with an SDHB mutation and we reinforced the need to perform genetic screening for all adrenal/extra-adrenal lesions characteristic of PHEO/PGL.

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来源期刊
Case Reports in Endocrinology
Case Reports in Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.10
自引率
0.00%
发文量
45
审稿时长
13 weeks
期刊最新文献
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