ACTH-producing pheochromocytoma.

A benign adrenal medullary tumor that secreted adrenocorticotropic hormone (ACTH) was associated with bilateral adrenocortical hyperplasia and clinically evident Cushing syndrome. The clinical and chemical features were those usually associated with pituitary Cushing disease, including partial suppression of urinary OH steroids after administration of 8 mg of dexamethasone. The fractionization of the tumor's ACTH revealed 70% little "biologically active" ACTH, which is usually found in this concentration only in pituitary tissue.     

Scintigraphy in pheochromocytoma

Summary In four patients with pheochromocytoma, scintigraphy with¹³¹I-meta-iodobenzylguanidine was performed to localize hyperfunctioning adrenergic tissue. In three patients unilateral adrenal pheochromocytoma was found, whereas one patient with a malignant pheochromocytoma showed multilocular dissemination. The results document that scintigraphy with¹³¹I-meta-iodobenzylguanidine seems to be a safe and reliable method of detecting adrenal and extra-adrenal pheochromocytomas, both benign and malignant.     

Retroperitoneoscopic adrenalectomy in pheochromocytoma

Since the first laparoscopic adrenalectomy, the technique has evolved and it has become the standard of care for many adrenal diseases, including pheochromocytoma. Two laparoscopic accesses to the adrenal have been developed: transperitoneal and retroperitoneal. Retroperitoneoscopic adrenalectomy may be recommended for the treatment of pheochromocytoma with the same peri-operative outcomes of the transperitoneal approach because it allows direct access to the adrenal glands without increasing the operative risks. Although technically more demanding than the transperitoneal approach, retroperitoneoscopy can shorten the mean operative time, which is critical for cases with pheochromocytoma where minimizing the potential for intra-operative hemodynamic changes is essential. Blood loss and the convalescence time can be also shortened by this approach. There is no absolute indication for either the transperitoneal or retroperitoneal approach; however, the latter procedure may be the best option for patients who have undergone previous abdominal surgery and obese patients. Also, retroperitoneoscopic adrenalectomy is a good alternative for treating cases with inherited pheochromocytomas, such as multiple endocrine neoplasia type 2A, in which the pheochromocytoma is highly prevalent and frequently occurs bilaterally.     

混合性嗜铬细胞瘤临床病理学特征分析

目的探讨混合性嗜铬细胞瘤(composite pheochromocytoma,CP)临床病理特征、免疫表型、诊断及鉴别诊断。方法收集2011年1月至2019年1月浙江省人民医院收治的5例CP,对5例CP的临床、影像学、组织学、免疫组织化学特征及预后进行观察,探讨其临床病理特征及鉴别诊断。结果CP患者中男性4例,女性1例,男女发病比例为4∶1,发病年龄52~68岁(平均年龄59岁,中位年龄54岁),肿瘤最大径3~4 cm(平均最大径3.6 cm,中位最大径3.5 cm);临床表现多为无明显症状的肾上腺肿块;典型的形态为两种成分组成,一种为瘤细胞呈不规则巢状排列,瘤细胞胞质细颗粒状、嗜碱性或双嗜性,核分裂象罕见;另一种为由不规则交叉束状排列的施万细胞及散在分布的神经节细胞组成;免疫组织化学示嗜铬细胞瘤弥漫表达PHOX2B(5/5)、突触素(5/5)、嗜铬粒素A(CgA,5/5),支持细胞S-100蛋白阳性(5/5),节细胞神经瘤弥漫表达S-100蛋白(5/5)、神经丝蛋白(5/5),其内神经节细胞PHOX2B、突触素、CgA弱阳性;5例均接受手术切除,预后良好,随访均无复发。结论CP较少见,临床表现不具有特异性,其具有独特的组织学特征,仔细的观察肿瘤的完整组织结构及免疫组织化学检测PHOX2B、CgA、突触素、S-100蛋白有助于其诊断和鉴别诊断。     

Clinically unsuspected bilateral malignant pheochromocytoma

Pheochromocytoma is an uncommon tumor and occurrence of bilateral malignant tumor is extremely rare. Labile hypertension is the common presenting feature of pheochromocytomas. Herein we describe one such case ofbilateral malignant pheochromocytoma, which was clinically silent except for pain and mass in hypochondrium. Histopathology showed features of malignancy along with hyaline globules, which are less described with malignant tumors. Electron microscopy showed neurosecretory granules in tumor cells.     

Clinical experiences of pheochromocytoma in Korea

Purpose

We report herein 119 patients with pheochromocytoma at our institute over the last 23 years.

Materials and Methods

Between 1986 and 2009, 119 patients were diagnosed with pheochromocytoma at our institute. We reviewed the medical records of these patients.

Results

Of 119 patients, 45 were male and 74 were female, and mean age was 43.83 ± 13.49 years. Forty-three patients (36.1%) were diagnosed incidentally, and 8 patients (6.7%) were found to have familial pheochromocytoma. The mean dimension of the tumors was 5.89 ± 3.18 cm. 4 patients had bilateral tumors; three of these patients were found to have familial pheochromocytoma and 1 patient was diagnosed with malignant pheochromocytoma. A total of eight patients (6.7%) were found to have malignant pheochromocytoma. In 1 patient, metastasis to a lymph node was found at the time of diagnosis. Metastases were found at a mean of 49 ± 25.83 (6-75) months after surgery in the other seven patients. 6 patients died of malignant pheochromocytoma at a mean of 31 ± 28.71 months (1-81) after diagnosis, and the other 2 patients survived for 15 and 24 months, respectively.

Conclusion

Approximately 35% of patients with pheochromocytoma are diagnosed incidentally, and the number of detected cases is increasing. Although familial pheochromocytoma was found only in 6.7% of the patients, genetic testing should be considered in all patients, especially in patients with a family history, young age, or multifocal, bilateral, extra-adrenal, or malignant tumors. Given that malignant pheochromocytomas are frequently diagnosed during the follow-up period, long-term follow-up is necessary to confirm the absence of recurrence or metastasis.     

Clinicomorphological aspects of adrenal pheochromocytoma diagnostics

The removed pheochromocytomas of 25 patients aged from 25 to 72 years have been studied. Among them 5 tumors have had bilateral character, 8 pheochromocytomas have been diagnosed as malignant, 4 patients have had metastases. The average size of benign pheochromocytomas has been 4.0 cm, malignant - 4.5 cm. The majority of malignant tumors have had areas with diffusing growth patterns. The results of immunohistochemical study of benign and malignant pheochromocytomas have had small differences. The study of tumor ultrastructure hasn't found out their biological potential.     

Characteristic genomic imbalances in pediatric pheochromocytoma

Pheochromocytoma (PCC) in children is rare, genetically not well described, and often related to a poor prognosis. We detected genomic imbalances in all 14 tumors from children analyzed by comparative genomic hybridization. A combinatorial loss of chromatin from 3p and 11p was a common feature in 10 of 14 (72%) patients, which was a result of either a loss of a total chromosome 3 and a total chromosome 11 in 6 of 10 patients, or confined deletions of their p arms in 4 of 10 patients. All patients exhibiting a loss of 3p and 11p carried VHL mutations. The VHL mutations were constitutive in 9 cases and somatic and restricted to tumor DNA in the remaining tumor. On the other hand, VHL mutations were absent in 4 patients, 2 who had other familial syndromes (NF1, SDHD) and 2 with unknown etiology. Our data show that the pattern of imbalances in the tumor DNA of PCC patients strongly correlated with an underlying familial VHL mutation. Furthermore, we show that true sporadic PCC is rare in childhood. Thus, children with PCC should be checked for a related predisposing gene. This would also identify familial syndrome patients requiring long-term monitoring for other syndrome-related malignancies.