Kumar Shejil, Wu Katherine, Rodrigo Natassia, Glover Anthony
Department of Diabetes, Endocrinology & Metabolism, Royal North Shore Hospital, Sydney, NSW 2065, Australia.
Northern Sydney Clinical School, Faculty of Medicine, University of Sydney, Sydney, NSW 2065, Australia.
JCEM Case Rep. 2023 Jun 7;1(3):luad061. doi: 10.1210/jcemcr/luad061. eCollection 2023 May.
Pheochromocytomas are rare catecholamine-secreting neuroendocrine tumors of the adrenal medulla chromaffin cells, usually associated with features of catecholamine excess. Clinically and biochemically silent pheochromocytoma without adrenergic symptoms or elevated catecholamine concentrations are rare. A 71-year-old female presented with acute right flank pain with abdominal computed tomography (CT) scan revealing a hemorrhagic right adrenal mass. She had no preceding adrenergic symptoms, and normal serum electrolytes, on a background of well-controlled hypertension on amlodipine monotherapy. After conservative management and discharge, an outpatient CT adrenal scan confirmed an 88 × 64 mm right adrenal mass demonstrating intense avidity (maximum standardized uptake value, 20.2) on fluorodeoxyglucose F 18-positron emission tomography (FDG-PET)/CT scan. Biochemical screening supported a nonfunctional adrenal lesion with normal-range plasma normetanephrines and metanephrines. She underwent a right adrenalectomy for presumed nonfunctioning adrenocortical cancer; however, histopathology demonstrated a 120-mm pheochromocytoma. Succinate dehydrogenase subunit B (SDHB) and fumarate hydratase (FH) staining were retained; however, weakly positive 2SC staining raised concerns for FH-deficient pheochromocytoma. Germline DNA sequencing was negative for pathogenic RET, VHL, SDHB, SDHD, or FH variants. Tumor cells stained positive for tyrosine hydroxylase and negative for dopamine β hydroxylase. Four months postoperatively, progress FDG-PET/CT scan demonstrated no focal avidity. Massive biochemically silent pheochromocytomas are exceedingly rare, and we discuss various mechanisms that may predispose patients to this phenomenon.
嗜铬细胞瘤是肾上腺髓质嗜铬细胞分泌儿茶酚胺的罕见神经内分泌肿瘤,通常伴有儿茶酚胺过量的特征。临床上和生化检查无异常、无肾上腺素能症状或儿茶酚胺浓度升高的嗜铬细胞瘤很罕见。一名71岁女性因急性右侧胁腹疼痛就诊,腹部计算机断层扫描(CT)显示右侧肾上腺有一个出血性肿块。她之前没有肾上腺素能症状,血清电解质正常,正在接受氨氯地平单药治疗,高血压病情控制良好。经过保守治疗和出院后,门诊CT肾上腺扫描证实右侧肾上腺有一个88×64毫米的肿块,在氟脱氧葡萄糖F 18正电子发射断层扫描(FDG-PET)/CT扫描上显示出强烈的摄取(最大标准化摄取值,20.2)。生化筛查支持肾上腺无功能病变,血浆去甲变肾上腺素和变肾上腺素在正常范围内。她因疑似无功能肾上腺皮质癌接受了右侧肾上腺切除术;然而,组织病理学显示为一个120毫米的嗜铬细胞瘤。琥珀酸脱氢酶亚基B(SDHB)和延胡索酸水合酶(FH)染色保留;然而,2SC染色弱阳性引发了对FH缺陷型嗜铬细胞瘤的担忧。种系DNA测序未发现致病性RET、VHL、SDHB、SDHD或FH变异。肿瘤细胞酪氨酸羟化酶染色阳性,多巴胺β羟化酶染色阴性。术后四个月,FDG-PET/CT扫描进展显示无局灶性摄取。大量生化检查无异常的嗜铬细胞瘤极其罕见,我们讨论了可能使患者易患此现象的各种机制。