Papillary cystadenoma of the mesosalpinx in von Hippel-Lindau disease

Papillary cystadenoma of the epididymis is an occasional finding in men with von Hippel-Lindau disease. To date, an analogous lesion has not been described in women with the syndrome. We report a case of an asymptomatic papillary cystadenoma of the mesosalpinx found incidentally during surgery for a renal cell carcinoma in a woman with von Hippel-Lindau disease. This finding supports the notion that similar lesions may arise in both men and women with von Hippel-Lindau disease, perhaps from embryologically related portions of the urogenital tract.     

Multifocal microcysts and papillary cystadenoma of the lung in von Hippel-Lindau disease

von Hippel-Lindau disease is an autosomal dominant inherited disorder characterized by a predisposition to multiple neoplasms. Renal cell carcinoma and hemangioblastomas of the retina and cerebellum are the most common of these, but other neoplasms and cysts also occur throughout the body. We report a distinctive, yet never described lung lesion in a 43-year-old woman with von Hippel-Lindau disease. Molecular genetic studies confirmed the presence of a VHL gene mutation in the cells of this lesion. We discuss the salient features of this novel lesion, and hypothesize on its origin and nature.     

Unsuspected pheochromocytoma: von Hippel-Lindau disease

The authors report a case of cerebellar hemangioma excision in a 13-year-old girl with unsuspected pheochromocytoma. This patient had an uneventful attempt at embolization of her tumor under general anesthesia but manifested hypertensive crisis during the intracranial surgery. The intra- and postoperative course of events and management are described. The possible causes leading to hypertension in an unsuspected pheochromocytoma are discussed. The anesthetic management of this patient for excision of pheochromocytoma is also presented.     

von Hippel-Lindau综合征附睾乳头状囊腺瘤超声表现1例

<正>患者男,50岁,发现左侧阴囊内包块20年,逐渐增大2年;于3年前被诊断为von Hippel-Lindau综合征(以下简称VHL综合征),颈椎内血管母细胞瘤(图1)、胰腺多发囊肿(图2)、双肾透明细胞癌,并接受右肾保留肾单元肿瘤剥离术,术后病理结果为透明细胞癌。查体:包块质韧,无压痛、放射痛。超声检查:左侧附睾头见约14mm×10mm×13mm囊实混合回声团块(图3),右侧附睾头见约12mm×8mm×11mm囊实混     

Epididymal cystadenomas in von Hippel-Lindau disease

Objectives. Epididymal cystadenomas (ECs) are frequently found in association with von Hippel-Lindau disease (VHL), but little has been reported about their sonographic appearance. We review the sonographic appearance of ECs, the relationship of ECs to other manifestations of VHL, and the specific genetic mutations associated with ECs.Methods. Fifty-six male patients with VHL were examined with scrotal sonography and physical examination as part of a larger screening program for VHL. The head of the epididymis was measured in two planes on sonography and compared with age-matched normal controls. All VHL patients with palpable epididymal abnormalities or enlargement (more than two standard deviations) of the head of the epididymis on ultrasound were considered positive for EC.Results. Thirty of 56 (54%) male patients with VHL demonstrated a unilateral (n = 10; 33%) or bilateral (n = 20; 67%) solid abnormality in the head of the epididymis suggestive of EC. Sonographic appearances ranged from a solid mass with multiple tiny cysts to an almost completely solid mass. The most common appearance was a 15- to 20-mm solid mass with small cystic components. Dilated efferent ductules were seen within the testicle in 7 men, evidently a result of chronic obstruction. There was no association between the clinical subtype of VHL and the presence of ECs (P >0.10, chi square). Mutations resulting in a truncated gene product were associated with the development of ECs but the association did not reach statistical significance (P = 0.06).Conclusions. ECs are a common manifestation of VHL in men and exhibit a range of appearances on ultrasound. Sonography can be used to identify ECs and determine the extent of cystic dilation of the rete testes. The benign course of ECs and the usual absence of clinical symptoms favor a conservative approach to their management.     

Epidural anaesthesia in von Hippel-Lindau disease

The management of childbirth, including epidural anaesthesia for Caesarean section is described in a patient with von Hippel-Lindau disease. The reasons for the choice of epidural anaesthesia are explained and the anaesthetic significance of the disease is discussed.     

Metastases to hemangioblastomas in von Hippel-Lindau disease

OBJECT: Patients with hereditary cancer syndromes may be at increased risk for the development of tumor-to-tumor metastases. To gain insight into the biological nature of these lesions in the central nervous system (CNS), to determine their prevalence in a familial neoplasia syndrome, and to better define their management, the authors retrospectively examined a series of cases in which metastatic lesions developed within hemangioblastomas in patients with von Hippel-Lindau (VHL) disease. METHODS: The study included all cases of VHL disease in which patients underwent resection of a CNS hemangioblastoma that contained a metastasis or were found at autopsy to have a metastasis to a hemangioblastoma between January 2002 and December 2005 at the National Institute of Neurological Disorders and Stroke (NINDS). Clinical, histopathological, imaging, and surgical and/or autopsy findings were analyzed. Metastasis to a CNS hemangioblastoma was found in six resected tumors (8% of all hemangioblastomas resected from patients with VHL disease at the NINDS during the study period) from six patients (five women, one man; mean age at surgery 42.5 years). The primary site of metastatic disease was the kidney in five patients (renal cell carcinoma) and the pancreas in one (a pancreatic neuroendocrine tumor). Only one patient had systemic metastases at the time of resection of the hemangioblastoma containing the metastasis. Neurologically, all patients had remained at baseline or were improved at last clinical follow-up examination (mean follow-up duration 16.5 months, range 3-40 months). In all cases, postoperative imaging revealed that the hemangioblastoma resection was complete, and there was no evidence of recurrence in any of the patients at the last follow up. Two patients (including one who was also in the surgical group) were found at autopsy to have CNS metastases exclusively to spinal hemangioblastomas. CONCLUSIONS: Hemangioblastomas are an early and preferred site for metastasis in VHL disease. Emerging histopathological techniques may lead to recognition of an increasing number of cases of tumor-to-hemangioblastoma metastasis. Management of cases involving tumor-to-hemangioblastoma metastases in VHL disease should be based on the histological characteristics of the primary tumor, extent of the primary disease, and completeness of the resection.     

von Hippel-Lindau病的肾脏病理学特点

目的 探讨von Hippel—Lindau(VHL)病肾脏损害的病理特点及VHL多发性肾癌的治疗。方法 回顾性分析6例同一VHL病家族伴有肾脏损害患者的临床及病理资料；1例为双肾多发性囊肿，5例为双侧肾癌伴多发性囊肿。结果 5例双肾癌10侧肾脏中，行保留肾单位手术5侧，肾癌根治术3侧，带瘤随访2侧。1例多发肾囊肿者仅随诊观察。术后病理实质性肿块均为透明细胞癌。Fuhrman分级结果：Ⅰ级14枚，Ⅱ级6枚。TNM病理分期：T1N0M04例、T2N0M01例。切除14枚可疑的肾囊肿，术后病理恶性囊肿1枚，余为单纯囊肿。术后随访9～113个月，平均47个月，5例患者均存活且无肿瘤复发及远处转移；5例肾功能正常，1例肾功能较术前差，但无需血透治疗。结论 VHL病中肾脏损害包括肾癌及肾囊肿，常为双侧多发性，肿瘤为透明细胞癌且分级分期低。保留肾单位手术是治疗VHL病中肾癌的有效方法。     

Pituitary stalk hemangioblastomas in von Hippel-Lindau disease

OBJECT: Pituitary stalk hemangioblastomas are rare, and information on them is limited to a small number of case reports. To gain insight into the incidence, clinical effects, and management of pituitary stalk hemangioblastomas, the authors analyzed a series of patients with von Hippel-Lindau (VHL) disease. METHODS: Patients with VHL disease who were enrolled in a prospective National Institutes of Health natural history study were included. Clinical, imaging, and laboratory findings were analyzed. RESULTS: Two hundred fifty patients were included in the study (120 male and 130 female patients). In 8 patients (3%), 8 pituitary stalk hemangioblastomas were identified on MR imaging. This anatomical location was the most common supratentorial site for these lesions; 29% of all supratentorial hemangioblastomas were found there. The mean (+/- standard deviation) pituitary stalk hemangioblastoma volume was 0.5 +/- 0.9 cm(3) (range 0.08-2.8 cm(3)). Results of endocrine laboratory profiles were normal in all patients. All patients remained asymptomatic and none required treatment during the follow-up period (mean duration 41.4 +/- 14.4 months). CONCLUSIONS: The pituitary stalk is the most common site for the development of supratentorial hemangioblastomas in patients with VHL disease. Pituitary stalk hemangioblastomas often remain asymptomatic and do not require treatment. These findings indicate that pituitary stalk hemangioblastomas in patients with VHL disease may be managed with observation and that surgery for them can be reserved until associated signs or symptoms occur.     

Endolymphatic sac tumors in von Hippel-Lindau disease

OBJECT: Von Hippel-Lindau (VHL) disease is a hereditary multiple-neoplasia syndrome mapping to chromosome 3p25-26. Endolymphatic sac (ELS) tumors have been identified as a neoplastic manifestation of VHL disease. The purpose of this study was to evaluate comprehensively the natural history of inner ear disease in a large population of patients with confirmed or suspected VHL disease and to correlate the clinical features with the VHL genotype. METHODS: The authors collated and analyzed clinical and genotypic data obtained in patients enrolled in an Institutional Review Board-approved protocol in which families and individuals affected by VHL disease were studied. These data included results from multidisciplinary history workups and physical examinations, imaging studies, and a battery of audiological tests. One hundred seventy-five patients were enrolled in the study, 129 with confirmed VHL disease and 46 of their family members in whom test results for VHL disease were negative and who served as controls. Twenty-one patients had ELS tumors that were evident on magnetic resonance images; three of them had bilateral ELS lesions. Hearing loss, often sudden in onset and severe to profound in nature, vestibulopathy, aural fullness, and tinnitus represented the primary symptoms of ELS tumor. Distinct patterns of auditory and vestibular dysfunction occurred at different stages of the disease. Phenotypic data showed that 17 of 21 patients with ELS tumors did not have pheochromocytomas, whereas all had VHL disease affecting the kidney, all but two had VHL disease affecting the central nervous system, and all but one had disease affecting the pancreas. Genotyping revealed 10 rearrangements (partial deletions), eight single bp substitutions, and one 3-bp insertion. Although there was no difference in the incidence of hearing loss between populations, symptoms of imbalance and aural fullness were more common in patients with VHL disease but without imaging evidence of ELS tumor than they were in family members who did not have VHL disease (p < 0.01). CONCLUSIONS: Endolymphatic sac tumors are frequently associated with VHL disease. Symptoms of disequilibrium or aural fullness in patients with VHL disease may be an early indication of endolymphatic dysfunction. Patients with VHL disease provide a unique opportunity to examine the effects of specific gene mutations and a discrete neoplastic process on the human inner ear. The study of ELS tumors in this group also provides a pathological model of ELS function and supplies evidence for a role of the ELS in clinical Ménière-like disease(s).     

CT diagnosis of unsuspected von Hippel-Lindau disease

Von Hippel-Lindau disease is a hereditary disorder with complex, multi-organ involvement including retinal, central nervous system, and abdominal manifestations. We report a case of clinically unsuspected von Hippel-Lindau disease identified during computed tomography (CT) evaluation of a renal mass. The CT demonstration of a coexisting pancreatic tumor and renal cell carcinoma suggested the correct diagnosis of von Hippel-Lindau disease, which was subsequently confirmed. This case reemphasizes the value of preoperative assessment of renal tumors by CT. The finding of coexisting renal and pancreatic tumors should stimulate the search for further evidence of von Hippel-Lindau disease.     

Bilateral pheochromocytomas with von Hippel-Lindau disease: a case report

A case of bilateral pheochromocytomas with von Hippel Lindau disease (VHL) is reported. A 32-year-old man visited Kumamoto Red Cross Hospital for further examination of hypertension. Computed tomography revealed bilateral adrenal tumors and noradrenalin levels in serum and urine were elevated. Suspecting bilateral pheochromocytoma, he was reffered to our hospital for further examination and treatment. 131I-MIBG scintigraphy showed accumulation in bilateral adrenal glands. Moreover, he had cerebellar and spinal hemangioblastomas. Bilateral adrenalectomies and left nephrectomy were performed because tumor thrombus extended into the left renal vein, and pathological diagnosis was pheochromocytoma. His sister had been diagnosed as VHL disease. We diagnosed the patient as VHL disease because of the existence of cerebellar and spinal hemangioblastomas, bilateral pheochromocytomas, missense mutation and his family history. This is the eleventh case of bilateral pheochromocytomas with VHL disease reported in Japanese literatures.     

Bilateral adrenal pheochromocytomas in von Hippel-Lindau disease]

The pheochromocytoma is a medullo-adrenal tumor which develops at the cost of the chromaffin cells. It appears in 11-19% of cases of von Hippel-Lindau's disease (VHL), is often bilateral, and the symptomatology is often crude: arterial hypertension is frequently isolated and unstable, and the classic triad of headache, palpitations and sweating is quite rarely observed. We report four observations of bilateral pheochromocytomas in patients with von Hippel-Lindau's disease (three with phenotype IIA and one with phenotype IIB). The tumor was bilateral during the diagnosis in three cases; in the fourth patient, the attack on the contralateral adrenal gland came two years after the first adrenalectomy. All the patients had undergone an adrenalectomy by open surgery after a short preparation of 48 hours; replacement therapy was begun in each patient. Morbidity was low, and the patients submitted to a prolonged follow-up in order to screen for the onset of future lesions of VHL.     

Organ donor found to have von Hippel-Lindau disease: case report

Multiple pancreatic cyst in combination with central nervous system hemangioma may be associated with Von Hippel-Lindau disease. The disease manifests with other systemic benign and malignant lesions. The risk of associated malignancy makes it imperative to review target organs before proceeding to transplantation, but does not preclude it completely if proper evaluation is performed. We present a case of an organ donor found to have multiple pancreatic cysts. Evaluation and transplantation decisions are discussed.