Yu Run, Sharaga Danielle, Donner Christopher, Palma Diaz M Fernando, Livhits Masha J, Yeh Michael W
Division of Endocrinology, Diabetes, and Metabolism, UCLA David Geffen School of Medicine, Los Angeles, USA.
Cancer Center of Santa Barbara with Sansum Clinic, Santa Barbara, California, USA.
Endocrinol Diabetes Metab Case Rep. 2017 May 25;2017. doi: 10.1530/EDM-17-0026. eCollection 2017.
Pheochromocytomatosis, a very rare form of pheochromocytoma recurrence, refers to new, multiple, and often small pheochromocytomas growing in and around the surgical resection bed of a previous adrenalectomy for a solitary pheochromocytoma. We here report a case of pheochromocytomatosis in a 70-year-old female. At age 64 years, she was diagnosed with a 6-cm right pheochromocytoma. She underwent laparoscopic right adrenalectomy, during which the tumor capsule was ruptured. At age 67 years, CT of abdomen did not detect recurrence. At age 69 years, she began experiencing episodes of headache and diaphoresis. At age 70 years, biochemical markers of pheochromocytoma became elevated with normal calcitonin level. CT revealed multiple nodules of various sizes in the right adrenal fossa, some of which were positive on metaiodobenzylguanidine (MIBG) scan. She underwent open resection of pheochromocytomatosis. Histological examination confirmed numerous pheochromocytomas ranging 0.1-1.2 cm in size. Next-generation sequencing of a panel of genes found a novel heterozygous germline c.570delC mutation in one of the genes that, if mutated, confers susceptibility to syndromic pheochromocytoma. Molecular analysis showed that the c.570delC mutation is likely pathogenic. Our case highlights the typical presentation of pheochromocytomatosis, a rare complication of adrenalectomy for pheochromocytoma. Previous cases and ours collectively demonstrate that tumor capsule rupture during adrenalectomy is a risk factor for pheochromocytomatosis. We also report a novel mutation in this case.
Pheochromocytomatosis is a very rare form of pheochromocytoma recurrence.Pheochromocytomatosis refers to new, multiple and often small pheochromocytomas growing in and around the surgical resection bed of a previous adrenalectomy for a solitary pheochromocytoma.Tumor capsule rupture during adrenalectomy predisposes a patient to develop pheochromocytomatosis.Surgical resection of the multiple tumors of pheochromocytomatosis is recommended.Pheochromocytoma recurrence should prompt genetic testing for syndromic pheochromocytoma.
嗜铬细胞瘤病是一种非常罕见的嗜铬细胞瘤复发形式，指在先前因孤立性嗜铬细胞瘤行肾上腺切除术后的手术切除床及其周围出现新的、多个且通常较小的嗜铬细胞瘤。我们在此报告一例70岁女性的嗜铬细胞瘤病病例。64岁时，她被诊断出患有一个6厘米的右侧嗜铬细胞瘤。她接受了腹腔镜右侧肾上腺切除术，术中肿瘤包膜破裂。67岁时，腹部CT未检测到复发。69岁时，她开始出现头痛和多汗发作。70岁时，嗜铬细胞瘤的生化标志物升高，而降钙素水平正常。CT显示右侧肾上腺窝有多个大小不一的结节，其中一些在间碘苄胍（MIBG）扫描中呈阳性。她接受了嗜铬细胞瘤病的开放性切除术。组织学检查证实有许多大小在0.1 - 1.2厘米之间的嗜铬细胞瘤。对一组基因进行的下一代测序在其中一个基因中发现了一种新的杂合种系c.570delC突变，该基因若发生突变会使人易患综合征性嗜铬细胞瘤。分子分析表明，c.570delC突变可能具有致病性。我们的病例突出了嗜铬细胞瘤病的典型表现，这是嗜铬细胞瘤肾上腺切除术后一种罕见的并发症。既往病例和我们的病例共同表明，肾上腺切除术期间肿瘤包膜破裂是嗜铬细胞瘤病的一个危险因素。我们还在该病例中报告了一种新的突变。
嗜铬细胞瘤病是一种非常罕见的嗜铬细胞瘤复发形式。嗜铬细胞瘤病指在先前因孤立性嗜铬细胞瘤行肾上腺切除术后的手术切除床及其周围出现新的、多个且通常较小的嗜铬细胞瘤。肾上腺切除术期间肿瘤包膜破裂使患者易患嗜铬细胞瘤病。建议对嗜铬细胞瘤病的多个肿瘤进行手术切除。嗜铬细胞瘤复发应促使对综合征性嗜铬细胞瘤进行基因检测。
