Familial Paragangliomas: Case Report and Literature Review

ObjectiveTo report a case of a woman with poorly controlled hypertension who was found to have multiple paragangliomas and mutation in the B subunit of succinate dehydrogenase (mitochondrial complex II).MethodsThe pathogenesis of familial paragangliomas and case management are discussed, and the relevant literature is reviewed.ResultsIn a 68-year-old woman with a long-term history of hypertension, bilateral carotid body paragangliomas had been resected at 24 and 57 years of age. Current laboratory studies showed an elevated plasma normetanephrine level. Computed tomography and magnetic resonance imaging revealed 3 paragangliomas—1 in the middle mediastinum and 2 intra-abdominally. Surgical excision involved a 2-stage procedure with the patient under the same general anesthesia: (1) a median sternotomy without cardiopulmonary bypass and (2) a midline celiotomy for removal of the retroperitoneal paragangliomas. All 3 tumors were focally adherent to adjacent structures (the left atrium, the uncinate process of the pancreas, and the left renal vessels). All tumors were completely excised without complication, and frozen section analysis confirmed that they were paragangliomas. Genetic testing disclosed a germline mutation in SDHB.ConclusionFamilial paraganglioma is a rare autosomal dominant, tumorigenic disorder affecting sympathetic and parasympathetic paraganglia. (Endocr Pract. 2008;14:603-606)     

Comparison of Pheochromocytomas and Abdominal and Pelvic Paragangliomas with Head and Neck Paragangliomas

ObjectiveTo compare clinical, radiologic, and pathologic characteristics, as well as management and outcomes, in a series of pheochromocytomas, abdominal and pelvic paragangliomas, and pelvic paragangliomas with head and neck paragangliomas.MethodsIn this retrospective study, we reviewed charts of all patients seen at our institution between January 1995 and December 2006. We searched pathology and medical record databases under the terms pheochromocytoma, paraganglioma, head and neck tumors, carotid body tumors, glomus jugulare, and neuroendocrine tumors. We compared clinical, radiologic, and pathologic characteristics, as well as management and outcomes, between patients with pheochromocytoma, abdominal and pelvic paraganglioma, and head and neck paraganglioma.ResultsEighty-six patients were included (46 with head and neck paraganglioma, 23 with pheochromocytoma, and 17 with abdominal or pelvic paraganglioma). Compared with patients with head and neck paraganglioma, patients with pheochromocytoma or abdominal and pelvic paraganglioma were younger (35.7 ± 16 years vs 43 ± 17 years, P = .042) and were more likely to have the classic triad associated with catecholamine hypersecretion of palpitation, excessive sweating, and headache (40% vs 0%, P < .001); hypertension (70% vs 37%, P = .005); and benign tumors (65% vs 43%, P = .03). Patients with head and neck paraganglioma and patients with pheochromocytoma/abdominal and pelvic paraganglioma were not different in female to male ratios (27:19 vs 29:11, respectively, P = .18), tumor size (5.8 ± 2.7 cm vs 5.7 ± 3 cm, respectively; P = .85), or remission rate (43% vs 60%, respectively, P = .13).ConclusionsHead and neck paraganglioma are similar to pheochromocytoma and abdominal and pelvic paraganglioma in size and outcome, but occur at an older age, lack hyperadrenergic manifestations, and are more likely to have local pressure effects and result in persistent disease. (Endocr Pract. 2009;15:194-202)     

Familial Carotid Body Tumors In Patients With Sdhd Mutations: A Case Series

ObjectiveTo describe a family with hereditary paraganglioma due to a disease-causing mutation in the SDHD gene.MethodsWe present the clinical findings, diagnostic test results, treatment, and genetic test results in a family with hereditary paraganglioma.ResultsThree siblings with bilateral carotid body tumors presented at different time points and with varied clinical presentations. While the proband, a 20-year-old man, was not hypertensive and had normal urinary metanephrine and normetanephrine levels, his sister and brother had a more severe clinical picture, with hypertension in both and elevated normetanephrine levels in his brother (his brother had pheochromocytoma and 2 intra-abdominal paragangliomas). Mean age at presentation was 24 years. A 4-base pair frameshift mutation, c.337-340delGACT, was detected in exon 4 of the SDHD gene in all 3 patients.ConclusionThis is the first report of the c.337340delGACT mutation being associated with hereditary paraganglioma; this report emphasizes the need to screen all at-risk first-degree relatives for the disease-causing SDHD mutation once it has been identified in an affected family member. (Endocr Pract. 2012;18:e106-e110)     

Multiple linear spiradenomas

A case of eccrine spiradenoma (ESA) is described in a 35-year-old man. During an 18-year period, the original number of tumors grew in size and fused into large groups. Surgical excision of all tumors was performed successfully. The unusual features of the case were a linear distribution and giant multifocal tumors. The histology of the tumors and their appearance at the beginning and 18 years later is described.     

Parotid tumor operations; the case against enucleation

So-called mixed "encapsulated" parotid tumors are best managed by surgical procedures which avoid contact with the "capsule." Enucleation is often a hazardous and incomplete procedure. Subtotal or total parotidectomy with exposure of the facial nerve to avert accidental damage to it is the treatment of choice. Microscopic study of the periphery of such tumors reveals that the "capsule" does not fully encapsulate; hence, enucleation and lesser procedures may leave neoplastic tissue behind.Surgical procedures to achieve complete excision without endangering the facial nerve were carried out in 123 cases. There was local recurrence in one case.     

Fine needle aspiration biopsy cytology of paragangliomas. Cytologic, light microscopic and ultrastructural studies of three cases

Paragangliomas are uncommon tumors arising in paraganglion tissue, which is especially well represented in the head and neck. In our hospital three head and neck masses recently proved to be paragangliomas on aspiratory biopsy cytology, with subsequent histologic confirmation. One was an apparently benign carotid body tumor, while the others were metastatic nasopharyngeal paragangliomas. The latter two tumors were clearly malignant, with roentgenographically proven pulmonary metastases in one and widespread lymph node involvement in the other. Histologically all were vascular tumors composed of large cells with abundant cytoplasm and pleomorphic, sometimes bizarre nuclei. These characteristic chief cells were clearly evident on cytology, with pleomorphic nuclei, prominent nucleoli, clumped chromatin and generally eosinophilic, finely granular or reticular cytoplasm. However, the distinction between benign and malignant tumors depended on the presence of mitoses or a tumor diathesis. Cytology seems to be able to provide a diagnosis of paraganglioma and, in these cases at least, an estimation of the biologic behavior.     

原发性肾上腺非霍奇金淋巴瘤（附9 例报告）

目的:探讨原发性肾上腺淋巴瘤(Primary Adrenal Lymphoma,PAL)的临床特点、提高对PAL的认识。方法:回顾分析解放军总医院1995年12月至2007年6月收治的9例PAL的临床表现、实验室检查、影像学特点、组织病理类型以及治疗方法等临床资料,并结合国内外文献进行分析。结果:9例患者中,1例因常规体检发现,8例因腹痛、腹胀或腰痛就诊发现;其中单侧3例,双侧6例,实验室检查无明显异常,影像学检查仅发现肾脏肿瘤,但术后病理组织学诊断为非霍奇金淋巴瘤(non-Hodgkin’s lymphoma,NHL),其中8例弥漫大B细胞淋巴瘤,1例T细胞淋巴瘤;7例患者术后均接受了CHOP或RCHOP方案化疗为主的综合治疗,2例常规治疗;随访至2010年2月,1例弥漫性大B细胞淋巴瘤患者存活4年,1例在术后3年2个月死亡,余7均在2年内死亡。结论:PAL是一种罕见的、恶性程度较高的肿瘤,临床表现和影像学检查缺乏特异性,组织病理学及免疫组织化学是明确诊断的好方法。术前确诊肾上腺原发性非霍奇金淋巴瘤可避免手术,联合化疗应为治疗首选。     

鼓室副神经节瘤的诊断与治疗

目的：探讨鼓室副神经节瘤的临床和病理特征。方法：复习临床病历资料,采用HE和免疫组化方法研究鼓室副神经节瘤的病理特征。结果：肿瘤实质由上皮样主细胞和短梭形支持细胞组成。主细胞中CgA、NSE和Syn呈阳性表达,支持细胞中S-100蛋白阳性表达。病理诊断为鼓室副神经节瘤,随访2年未见复发征象。结论：鼓室副神经节瘤十分罕见,临床和病理诊断困难,常需借助免疫组化协助诊断。治疗以手术切除为主。     

Angioleiomyomas of the extremities: report of a case and review of the Mayo Clinic experience

Angioleiomyomas are rare smooth-muscle tumors that occur anywhere in the body. We present the case of a 46-year-old woman with a 3-year history of a painless angioleiomyoma in the right-hand fourth web space with the typical histologic features of tortuous vascular channels and thick muscular walls. In the 39 cases of angioleiomyoma of an extremity treated at the Mayo Clinic, we found a male-to-female ratio of 1:2.2, a mean age of 52 years, and pain as the presenting symptom in 67 percent of the patients. The lesions usually were less than 1 cm in diameter, and they decreased significantly in size with increasing patient age. Simple excision was curative. Angioleiomyoma should be considered in all patients with nodular lesions of an extremity.     

Early identification of patients with the risk for postoperative carotid restenosis development

Multiple randomized trials over the last decade for both symptomatic and asymptomatic carotid stenosis have proven the efficacy of carotid endarterectomy (CEA) in reducing the risk of stroke. The aim of this prospective non-randomizing cohort study was to determine the incidence of carotid arteries restenosis after CEA as well as to ascertain the clinical and etiological characteristics for the development of restenosis. Treatment data from 178 KBC Rijeka patients that had undergone CEA in the period 1. 09. 2005-30. 8. 2009 has been processed. All patients are monitored trough our Neurosonology laboratory algorythm--first Doppler ultrasound examination within the first week after CEA and the following after 1, 3, 6 and 12 months. After this time once a years. The average monitoring time was 21 month (1-36 months). In the stated period 27 restenosis was diagnosed (15.16%). Only four of them were symptomatic (14.81%). Patient survival rate is 98% in the first 12 and 92% in the first 36 months. Carotid restenosis is usually asymptomatic. Non-invasive postoperative carotid arteries color Doppler screening is essential in the early identification of patients with the risk for the development of restenosis.     

Endovascular Treatment of Late Thoracic Aortic Aneurysms after Surgical Repair of Congenital Aortic Coarctation in Childhood

Background

In some patients, local surgery-related complications are diagnosed many years after surgery for aortic coarctation. The purposes of this study were: (1) to systematically evaluate asymptomatic adults after Dacron patch repair in childhood, (2) to estimate the formation rate of secondary thoracic aortic aneurysms (TAAs) and (3) to assess outcomes after intravascular treatment for TAAs.

Methods

This study involved 37 asymptomatic patients (26 female and 11 male) who underwent surgical repair of aortic coarctation in the childhood. After they had reached adolescence, patients with secondary TAAs were referred to endovascular repair.

Results

Follow-up studies revealed TAA in seven cases (19%) (including six with the gothic type of the aortic arch) and mild recoarctation in other six (16%). Six of the TAA patients were treated with stentgrafts, but one refused to undergo an endovascular procedure. In three cases, stengrafts covered the left subclavian artery (LSA), in another the graft was implanted distally to the LSA. In two individuals, elective hybrid procedures were performed with surgical bypass to the supraaortic arteries followed by stengraft implantation. All subjects survived the secondary procedures. One patient developed type Ia endoleak after stentgraft implantation that was eventually treated with a debranching procedure.

Conclusions

The long-term course of clinically asymptomatic patients after coarctation patch repair is not uncommonly complicated by formation of TAAs (particularly in individuals with the gothic pattern of the aortic arch) that can be treated effectively with stentgrafts. However, in some patients hybrid procedures may be necessary.     

Surgical management of chronic occlusive disease of the aortic arch vessels and vertebral arteries.

Occlusive disease of the aortic arch vessels is relatively rare and often missed initially. Of 41 patients treated surgically for this condition over a 10-year period 38 had arteriosclerotic lesions, 2 had symptoms secondary to vasculitis (Takayasu''s arteritis) and 1 had a radiation injury to a subclavian artery. In 22 cases the left subclavian artery was involved; the right subclavian and innominate arteries were the next most commonly affected. Only four vertebral stenoses were treated. Most patients presented with a combination of arm and hindbrain ischemia that was shown radiologically to be associated with a subclavian steal syndrome, but in some only isolated arm symptoms or severe vertigo alone was experienced. There was a difference in blood pressure between the arms of at least 20 mm Hg in 88% of the patients. The treatment for 28 patients was creation of a carotid-subclavian bypass, for 6 the placement of a bypass graft from the ascending aorta to the subclavian or carotid artery or both, for a 3 a subclavian endarterectomy and for 4 vertebral angioplasty. There were no operative deaths, and 90% of the grafts were patent 1 to 72 months later. however, only 30 (73%) of the patients were asymptomatic and 9 (22%) had improved.     

Digital glomus tumors: a 29-year experience with a lateral subperiosteal approach

The excision of distal digital glomus tumors has traditionally been performed directly over the involved nail bed. This can lead to nail deformities that are often unacceptable for the surgeon and the patient. The authors describe their experience with successful excision of digital glomus tumors using a lateral subperiosteal approach, which creates a dorsal flap. In 29 years, 19 patients were diagnosed with digital glomus tumors. All patients underwent excision using the lateral subperiosteal approach. The mean tumor size was 0.52 cm. The tumors were located on the pulp of the distal phalanx in two patients (10.5 percent) and subungually in 17 patients (89.5 percent). In all patients, preoperative clinical diagnosis was confirmed postoperatively with the biopsy result. Complications occurred in only two patients and included one paronychia and one temporary nail loss. The overall recurrence rate was 15.7 percent. All patients remained asymptomatic after surgery and regained full active and passive range of motion. There were no nail deformities by this approach. This technique represents a safe and effective approach to excising digital glomus tumors.     

Functional properties of fresh and cryopreserved carotid and femoral arteries,and of venous and synthetic grafts: comparison with arteries from normotensive and hypertensive patients

The ideal arterial graft must share identical functional properties with the host artery. Surgical reconstruction of the common carotid artery (CA) is performed in several clinical situations, using expanded polytetrafluoroethylene prosthesis (ePTFE) or saphenous vein (SV) grafts. At date there is interest in obtaining an arterial graft that improves the results of that nowadays available. The use of a fresh or cryopreserved/defrosted artery appears as an interesting alternative. However, if the fresh and cryopreserved/defrosted arteries allow an adequate viscoelastic and functional matching with the host arteries needs to be established. The aims were to compare the viscoelastic and functional performance of: (1) conduits used in CA reconstruction (SV and ePTFE) with those of the fresh and cryopreserved/defrosted CA and femoral arteries (FA), and (2) normotensive and hypertensive patients’ arteries with those of the arterial substitutes in vitro analyzed. Pressure, diameter and wall thickness of the CA were recorded in 15 normotensive and 15 hypertensive patients (in vivo studies), and in SV, fresh and cryopreserved/defrosted CA and FA (obtained from 15 donors), and ePTFE segments (in vitro studies). From stress–strain relationship we calculated elastic and viscous modulus, and the characteristic impedance. The local buffer and conduit functions were quantified as the viscous/elastic quotient and the inverse of the characteristic impedance. Fresh and cryopreserved/defrosted CA and FA were more alike, both in viscoelastic and functional levels, respect to normotensive and hypertensive patients’ arteries, than the ePTFE and SV grafts. CA and FA cryografts could be considered an important alternative for carotid reconstruction.     

MEDIASTINAL TUMORS OF THYMIC ORIGIN

Twenty-one cases of mediastinal tumors of thymic origin are presented. Five of these were benign and 16 malignant.Surgical excision is proposed as the treatment of choice for the encapsulated benign tumors or for malignant tumors of limited extent. When surgical excision is not feasible, adequate roentgen therapy amounting to 5,000 to 6,000 r calculated tumor dose may eradicate or control the tumor.No correlation between the histological pattern of the tumor and the survival rate or radiation response could be demonstrated in this small series.     

Juxtaglomerular apparatus tumor: a rare, surgically correctable cause of hypertension

Although uncommon, presentation of juxtaglomerular cell tumor is distinct and should allow a correct preoperative diagnosis in most patients. Typical clinical presentations include headaches, polyuria, or isolated, asymptomatic, severe hypertension. The diagnosis of a juxtaglomerular apparatus (JGA) tumor typically results from identification of plasma renin levels two- to sevenfold greater than the normal value. Although JGA tumors are considered benign, with no reports of metastases or recurrence, they are potentially lethal if left untreated. Surgical excision is curative.     

Salivary Gland Tumors and Sialadenitis in Children—Experience at Childrens Hospital of Los Angeles

Parotitis, hemangio-endothelioma and mixed tumors are the most common salivary gland lesions in the pediatric age group. Carcinoma and sarcoma are uncommon. Rapid growth of a tumor and pain suggest malignant change.A conservative non-operative approach is stressed for most cases of chronic parotitis. Scout x-ray films and sialangiographic examination are useful in differentiating an inflammatory lesion from a neoplastic growth. Total parotidectomy is advised if operation is indicated.A case of spontaneous resolution of a hemangioma of the parotid gland is presented. A less aggressive temporizing plan should be considered with these lesions, as the risk of seventh nerve injury in children is considerable.The treatment of choice for a non-inflammatory tumor is surgical excision, for most parotid tumors are radioresistant. Small masses should be completely excised for pathological evaluation. Incisional biopsy may occasionally be indicated in the case of a large diffuse lesion, for it may be inflammatory and total excision unnecessary. Most patients with chronic parotitis came to medical attention because of a non-tender asymptomatic parotid lump or diffuse swelling.     

Anterior mediastinal paraganglioma: A case for preoperative embolization

ABSTRACT: BACKGROUND: Paraganglioma is a rare but highly vascular tumor of the anterior mediastinum. Surgical resection is a challenge owing to the close proximity to vital structures including heart, trachea and great vessels. Preoperative embolization has been reported once to facilitate surgical treatment. CASE PRESENTATION: We report a case of anterior mediastinal paraganglioma that was embolized preoperatively and was resected without the need for cardiopulmonary bypass and without major bleeding complications. CONCLUSION: We make a case to further the role of preoperative embolization in the treatment of mediastinal paragangliomas.     

Asymptomatic adrenal tumor; 386 cases in Japan including our 7 cases

To clarify the indication of surgery in incidentally discovered asymptomatic adrenal masses, we analyzed 386 Japanese cases, 379 cases reported in Japan during the past 25 years (from 1964 to 1988) and 7 cases from our own experience. From a total of 460 patients, we carefully selected 379 patients satisfying our criterion of the absence of symptoms and signs suggestive of active hormone over-secretion as described in each case report. From the Japanese series, there was a high incidence of pheochromocytoma patients (20 of 37 patients) who had no symptoms and signs but had high plasma or urine catecholamines. Scintigraphy with 131I-meta-iodo-benzyl-guanidine was useful in the diagnosis of pheochromocytoma. For the other asymptomatic adrenal tumors, except for myelolipoma and adrenal cyst, differential diagnosis between malignant and benign adrenal lesions by imaging procedures such as whole body computed tomography (CT), ultrasonography (US), adrenocortical scintigraphy, and angiography was not always possible. In addition, among the 109 patients with cortical tumors whose hormonal data were reported, no clear-cut differentiation of malignant tumor from benign by means of these data could be obtained. Since 1980 whole body CT scanner and high resolution US scanner have become widely available, and there have been 283 cases of asymptomatic adrenal tumors who satisfied our criterion. Cortical carcinomas smaller than 3 cm and 6 cm in diameter account for 3.8% and 6.6%, respectively, of the total of 101 cases of cortical carcinoma, cortical adenoma, ganglioneuroma, and hemangioma during this period. The size of the smallest cortical carcinoma with metastasis was 2 cm in diameter in this series. Pre-operatively, an adrenocortical carcinoma 2.8 cm in diameter in our patient could not be diagnosed as such by imaging techniques and measurement of plasma hormones. These findings suggest that an adrenal mass larger than 3 cm should be removed and a patient with a smaller cortical tumor should be carefully followed up.     

VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report

Objective: Von Hippel-Lindau (VHL) syndrome is a rare and complex disease. In 1996, we described a 3 generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family and the management of all our other VHL patients focusing on frequently encountered neuroendocrine neoplasms: pheochromocytoma/paraganglioma and pancreatic neuroendocrine neoplasms (PNEN).Methods: All VHL patients in follow-up at our tertiary center from 1980 to 2019 were identified. Clinical, laboratory, imaging, and therapeutic characteristics were retrospectively analyzed.Results: We identified 32 VHL patients in 16 different families, 7/16 were classified as VHL 2 subtype. In the previously described family, the 4 initially asymptomatic carriers developed a neuroendocrine tumor; 7 new children were born, 3 of them being mutation carriers; 2 patients died, 1 due to metastatic PNEN-related liver failure. Pheochromocytoma was frequent (22/32), bilateral (13/22;59%), often diagnosed in early childhood when active screening was timely performed, associated with paraganglioma in 5/22, rarely malignant (1/22), and recurred after surgery in some cases after more than 20 years. PNEN occurred in 8/32 patients (25%), and was metastatic in 3 patients. Surgery and palliative therapy allowed relatively satisfactory outcomes. Severe disabling morbidities due to central-nervous system and ophthalmologic hemangiomas, and other rare tumors as chondrosarcoma in 2 patients and polycythemia in 1 patient were observed.Conclusion: A multidisciplinary approach and long-term follow-up is mandatory in VHL patients to manage the multiple debilitating morbidities and delay mortality in these complex patients.