BRCA2携带者双侧嗜铬细胞瘤:巧合还是新出现的关联?

IF 0.7 Q4 ONCOLOGY
Case Reports in Oncology Pub Date : 2025-08-08 eCollection Date: 2025-01-01 DOI:10.1159/000547815
Poovarasan S, Shahrukh Memon, Rudrakshi Mahaldar, Saurabh Raj
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引用次数: 0

摘要

嗜铬细胞瘤是一种罕见的肾上腺源性分泌儿茶酚胺的肿瘤。双侧嗜铬细胞瘤(bp)更常见于家族性或综合征背景,如MEN2、VHL或SDHx突变。然而,与BRCA2突变的关联尚未被广泛报道。病例介绍:我们报告了一位55岁的高血压男性,伴有持续的心悸和出汗。尽管接受了抗高血压治疗,症状仍持续存在。生化分析显示24小时尿肾上腺素升高(1705µg/d),血清皮质醇和醛固酮正常。造影(CECT和MRI)显示双侧肾上腺肿块提示腺瘤。GA68 DOTATATE PET证实双侧肾上腺生长抑素受体(SSTR)强烈病变。行双侧肾上腺切除术,组织病理学证实为嗜铬细胞瘤。通过全外显子组测序的基因检测在13号染色体上发现了一个不确定意义的BRCA2变异(VUS)。术后,患者在单药降压药治疗下保持血压正常,并终生使用类固醇替代治疗。讨论:嗜铬细胞瘤通常与RET、VHL和SDHx基因突变有关,而BRCA2主要与乳腺和卵巢恶性肿瘤有关。新出现的证据表明BRCA2突变在肾上腺肿瘤发生中的潜在作用。该病例可能是首次报道的与BRCA2 VUS相关的BP。虽然不能确定因果关系,但这一发现值得进一步调查潜在的基因型-表型相关性。结论:我们的报告扩展了BRCA2变异的表型谱,并强调了双侧肾上腺肿瘤遗传筛查的重要性。认识到这种罕见的关联对于遗传咨询、监测和量身定制的管理至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Bilateral Pheochromocytoma in a BRCA2 Carrier: Coincidence or Emerging Association?

Introduction: Pheochromocytomas are rare catecholamine-secreting tumours of adrenal origin. Bilateral pheochromocytomas (BPs) occur more commonly in familial or syndromic contexts such as MEN2, VHL, or SDHx mutations. However, association with BRCA2 mutations has not been widely reported.

Case presentation: We present a 55-year-old hypertensive male with persistent palpitations and sweating. Despite antihypertensive therapy, symptoms persisted. Biochemical analysis revealed elevated 24-h urinary metanephrines (1,705 µg/day), while serum cortisol and aldosterone were normal. Imaging (CECT and MRI) revealed bilateral adrenal masses suggestive of adenomas. GA68 DOTATATE PET confirmed somatostatin receptor (SSTR)-avid bilateral adrenal lesions. A bilateral adrenalectomy was performed, and histopathology confirmed pheochromocytoma. Genetic testing via whole-exome sequencing identified a BRCA2 variant of uncertain significance (VUS) on chromosome 13. Postoperatively, the patient remains normotensive on single-agent antihypertensive therapy and is on lifelong steroid replacement.

Discussion: While pheochromocytoma is often linked with mutations in RET, VHL, and SDHx genes, BRCA2 is primarily associated with breast and ovarian malignancies. Emerging evidence suggests a potential role of BRCA2 mutations in adrenal tumorigenesis. This case may represent the first reported BP associated with a BRCA2 VUS. While causality cannot be established, the finding warrants further investigation into potential genotype-phenotype correlations.

Conclusion: Our report expands the phenotypic spectrum of BRCA2 variants and underscores the importance of genetic screening in bilateral adrenal tumours. Recognition of such rare associations is critical for genetic counselling, surveillance, and tailored management.

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来源期刊
CiteScore
1.40
自引率
12.50%
发文量
151
审稿时长
7 weeks
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