Metastasis of renal carcinoma to a cerebellar hemangioblastoma in a patient with von Hippel Lindau disease: a case report

We report a case of metastatic renal carcinoma in a multirecurrent cerebellar haemangioblastoma (HBL) in an adult patient with von Hippel Lindau (VHL) disease. To our knowledge, only two cases of metastases to intracranial HBLs have been reported.     

Proximal nerve root spinal hemangioblastomas: presentation of three cases, MR appearance, and literature review

BACKGROUND: Hemangioblastomas (HBLs) are relatively uncommon tumors of uncertain histogenesis usually located in the cerebellum or spinal cord. Much less frequently they are identified in extramedullary locations including the filum terminale, proximal nerve roots, or even distal nerves of the peripheral nervous system (PNS). PNS cases not only present diagnostic challenges but also raise interesting questions regarding the common cell of origin for these CNS and PNS neoplasms. Few studies have detailed the neuroimaging characteristics of the rare extramedullary variants. METHODS: Neuroimaging and intraoperative findings of three recent cases of proximal nerve root HBLs are described. The English language literature on extramedullary HBLs is reviewed and discussed, particularly in regards to magnetic resonance (MR) findings and association with von Hippel-Lindau Syndrome (VHL). RESULTS: All 3 of our cases had prominent vessels present within the subarachnoid space on MR scans and all lesions enhanced. All were of intermediate or mildly decreased signal intensity on the T1-weighted images before contrast and were either iso- or hyperintense to spinal cord on the T2-weighted images. Two had probable cystic areas on MR, and all had cystic areas on histologic evaluation. CONCLUSION: These neuroimaging characteristics can serve to distinguish HBLs from the more common benign nerve sheath tumors with which they are most frequently confused. Less than half of all extramedullary HBLs are diagnosed in patients with known VHL. It is important to consider HBLs in the differential diagnosis, as they are vascular and have the propensity for causing significant blood loss at surgery.     

Expression of brachyury in hemangioblastoma: potential use in differential diagnosis

Hemangioblastoma (HBL) accounts for up to 2.5% of all intracranial tumors. It may occur as a sporadic entity or as a part of Von Hippel-Lindau syndrome. Patients with Von Hippel-Lindau syndrome are also at an increased risk of developing clear cell renal cell carcinoma (CCRCC). The distinction of HBL from CCRCC metastatic to the central nervous system (CNS) or from other histologic mimics can be challenging at times when based solely on hematoxylin and eosin-stained sections. In the present study we evaluated the potential use of the immunohistochemical evaluation of brachyury protein in the differential diagnosis of these lesions. Archival tissues from 22 HBLs, 16 primary CCRCCs, 8 CCRCCs metastatic to the CNS, and 4 angiomatous and 4 clear cell meningiomas were retrieved from our surgical pathology files and submitted to the immunohistochemical procedures against brachyury. Cases showing nuclear and/or cytoplasmic staining were considered to be positive for brachyury. Positive cytoplasmic staining was evidenced in the stromal cells of 20 of the 22 HBLs. In most cases, >50% of the neoplastic cells were labeled, with strong or moderate intensity of staining. No nuclear or cytoplasmic staining for brachyury was observed in any of the primary renal or metastatic CCRCCs, nor in either of the meningioma types. Thus, brachyury cytoplasmic staining was demonstrated to be highly specific for HBL (specificity, 100%) and represented a sensible (sensitivity, 91%) method, with high positive (100%) and negative (89%) predictive values and high diagnostic accuracy (95%) in the differential diagnosis between HBL and CCRCC metastatic to the CNS or meningioma. On the basis of our findings we propose the use of brachyury as an additional helpful immunohistochemical marker to resolve the differential diagnosis of HBL toward histologic mimics.     

Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation

Von Hippel-Lindau disease (VHL) is a rare genetic disease with a lifetime risk of clear cell renal cell carcinoma in approximately 70% of cases. We present a case of a 63-year-old man with bilateral, multifocal renal masses. Genetic testing results were consistent with a VHL deletion. The patient had no other disease manifestations consistent with VHL. The patient underwent staged bilateral nephron-sparing procedures. Pathology of all renal masses revealed oncocytoma. To our knowledge, we describe the first reported case of multiple renal oncocytomas in a male patient with a germline VHL mutation.     

A rare post-transplant malignancy, cerebellar hemangioblastoma: a case report

INTRODUCTION: Post-transplant malignancies are among the most important complications in organ transplantation. Hemangioblastoma (HB) is especially prevalent in the cerebellum. CASE REPORT: A 20-year-old male who first started dialysis therapy, and then underwent kidney transplantation from a living-relative donor. Five years after transplantation, the patient suffered from vertigo and imbalance when walking. On cranial magnetic resonance imaging (MRI), a mass lesion in the right cerebellar hemisphere was observed, 3 x 3 x 3 cm in size, which was pushing against the fourth ventricle, and the right cerebellar peduncle. The patient had significant hydrocephaly. The mass lesion was removed by craniectomy. The pathological diagnosis was cerebellar hemangioblastoma. The symptoms and clinical findings improved. The patient was diagnosed with sporadic hemangioblastoma. Rapamycin therapy was started instead of cyclosporine, and the patient is being followed up without further problems. DISCUSSION: HB causes 2% of all intracranial tumors in the general population. It is generally sporadic in nature and approximately 20% can be associated with von Hippel-Lindau (VHL) syndrome. As in this case, MRI is preferred for the diagnosis. There was no pathology related to VHL disease in this patient's physical examination, family history, routine biochemical tests and abdominal MRI. The treatment is surgical excision of the tumor, as in this case. CONCLUSION: When cerebellar symptoms occur or a cerebellar mass lesion is detected in an organ recipient, HB should be considered in the differential diagnosis. The examination of patients with HB for a possible association with VHL disease is also required.     

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.     

Hematoma of the pineal region: a case report

A 44-year-old man came to our clinic, complaining of slowly progressive disturbance of visual acuity and of ocular movement. This patient suffered from headache, narrowing of visual field and polyuria about 20 years ago, and received surgical and radiation therapy under the diagnosis of pituitary adenoma. Clinical symptoms and signs of this patient, except for bitemporal hemianopsia, almost completely disappeared after these treatment. The detailed information about the histology and radiation dose are not available at the present time. CT scan in our clinic revealed a round low-density area at the suprasellar region and a high density area at the left quadrigeminal cistern. Pineal calcification was compressed to the right about 2-3 mm from midline. This high density mass were not enhanced with contrast medium. Vertebral angiography showed a slight lateral displacement of the left medial posterior choroidal artery. Specimen of tissue removed 20 years ago was reexamined but definitive diagnosis could not be established. Presumptive diagnosis of an ectopic pinealoma in the suprasellar region treated successfully 20 years ago, and its recurrence in the pineal region was made. On May 24, the patient underwent a posterior fossa craniectomy and the pineal region was explored via the infratentorial supracerebellar approach. On sectioning the precentral cerebellar vein, yellowish mass was seen in the quadrigeminal cistern. Aspiration of this mass yielded dark red liquid hematoma. Incising into the capsule, a dark brownish mass of about 4g was removed en bloc.(ABSTRACT TRUNCATED AT 250 WORDS)     

初次全膝关节置换术后隐性失血的影响因素研究

目的 探讨初次全膝关节置换术(TKA)术后隐性失血的相关影响因素.方法 回顾性分析2007年10月至2009年8月接受初次TKA的422例患者,男性60例,女性362例;年龄18～84岁,平均65.7岁.根据Ward和Gross的方法 计算隐性失血量.分析性别、年龄、体质量指数(BMI)、单双侧手术、下肢深静脉血栓、术后抗凝方式、止血带使用时间、假体类型等对术后隐性失血的影响.结果 接受单膝TKA与一期双膝TKA的患者术后隐性失血量分别为(1284±207)ml和(2248±504)ml,差异有统计学意义(P=0.000).单因素分析显示:BMI、止血带使用时间、假体类型及抗凝方式与TKA术后隐性失血有关.多元线性回归分析结果 表明,TKA术后隐性失血的影响因素包括BMI、止血带使用时间及假体类型.结论 BMI、一期双膝关节置换、止血带使用时间及假体类型是TKA术后隐性失血量的影响因素,而性别、年龄、诊断、下肢深静脉血栓及抗凝方式对术后隐性失血形成的影响不大.

Abstract：

Objective To investigate the relative factors for hidden blood loss (HBL) after primary total knee arthroplasty (TKA). Methods A retrospective study of 422 consecutive patients who underwent primary TKA between October 2007 and August 2009 was carried on. There were 60 male and 362 female patients with a mean age of 65. 7 years. The HBL was calculated according to Gross formula. The effect of patient gender, age, body mass index (BMI) , pre-operative diagnosis, unilateral or simultaneous bilateral TKA, tourniquet time, type of prosthesis, postoperative anticoagulation method and deep vein thrombosis (DVT) on the postoperative HBL were analyzed. Results The HBL in patients underwent unilateral TKA was significantly lower than that in those underwent simultaneous bilateral TKA [(1284 ± 207) ml vs. (2248 ±504) ml, P = 0. 000] . Unvaried analysis showed that the HBL were associated with BMI, tourniquet time, prosthesis type and postoperative anticoagulation method. Multivariate linear regression analysis showed that the impact factors of postoperative HBL include BMI, tourniquet time and prosthesis type. Conclusions BMI, bilateral simultaneous TKA, tourniquet time and intercondylar open prosthesis impact the HBL after primary TKA. However, the influence of gender, age, diagnosis, postoperative anticoagulation method and DVT on the HBL are not significant.     

PS10PHAEOCHROMOCYTOMA IN CHILDREN

Purpose Phaeochromocytomas are rare tumours of the sympathoadrenal neuroendocrine system. It is known that these tumours are associated with Von Hippel Lindau (VHL) disease, multiple endocrine neoplasia type II and neurofibromatosis type I. Recently an association with succinate dehydrogenase type B and D gene mutations has been described. Discovery of a SDHB mutation in a girl at our hospital prompted us to review our experience with phaeochromocytoma in children. Methodology Retrospective review of case notes of all children treated for phaeochromocytoma over the period 1997–2006 at Starship Children’s Hospital, NZ. Results Seven patients with 8 tumours were identified with average age of 10 years and average systolic BP of 161. The tumours were adrenal in location in 37.5% and 62.5% extra‐adrenal. Our malignancy rate was 12.5%. Familial disease was noted in two patients with one girl having VHL disease and the other found to carry a mutation in the SDHB gene. All children received preop antihypertensives and were treated operatively with seven open resections and one laparoscopic converted to open resection. One child received adjuvant radiotherapy. There were no recurrences or deaths. Conclusions Phaeochromocytoma in children varies from the adult form. It is more likely to be extra‐adrenal and have a greater chance of a familial genetic syndrome. The discovery of SDH mutations has altered the diagnosis of familial disease and carries implications for family screening, prognosis and surveillance. We emphasize the importance of taking a good family history and suggest screening for SDH mutations in all patients with phaeochromocytoma.     

Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant disorder characterized by multifocal and bilateral renal cell carcinoma and cysts, retinal angiomas, hemangioblastoma of the central nervous system, pheochromocytoma, epididymis cystoadenoma, pancreatic cysts and/or islet cell tumors. However, phenotypic manifestations and clinical outcome are wide ranging including inter and intra-familial patterns. The VHL gene has been localized on chromosome 3 p 25-26 and more than 250 germline mutations have been described. The sensitivity of analytic techniques of VHL gene is close to 100%. It is well known that about 25% of VHL patients present de novo mutations, and first cases function as possible founders of new VHL kindreds. Herein, we report the clinical case of a 45-year-old Caucasian female patient affected by bilateral polycystic kidney disease with two renal carcinomas in both kidneys without lynphoadenopathies. She underwent ophthalmologic surgery at 19 years old because of retinal detachment due to bilateral retinal angiomatosis. Direct gene sequencing showed a deletion-insertion in exon 3, starting from nucleotide 499 of the coding sequence (c.499-504 delinstT) in a heterozygous status; it causes a frame-shift and creates a premature stop at codon 170. The genetic study of the unaffected parents and of the unaffected brother confirmed the diagnosis of de novo VHL disease with the dentification of a new germline mutation, never reported in the literature. The patient showed normal kidney function and she did not show other organ lesions or clinical manifestations of VHL disease. She was successfully submitted to renal parenchymal sparing-surgery. In conclusion, it is important to test for germline mutations in VHL patients with the involvement of one organ or a pair of organs. Once the mutation is found in the proband, all family members can be easily tested for the documented mutation. The early identification of VHL patients is very important for clinical and genetic reasons.     

Single case of renal cell carcinoma and endocrine pancreatic head cancer occurring with von Hippel-Lindau disease

Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disease in which various neoplastic lesions occur in multiple organs. Reported here is a case of VHL disease with concurrent renal cell carcinoma and endocrine pancreatic cancer. The patient was a 43-year old woman. On this occasion, the patient had sought treatment from her local physician, complaining chiefly of yellowing of the skin and bulbar conjunctiva. Abdominal ultrasound and computed tomography scans revealed a mass in the right kidney and a mass in the pancreatic head. Peripheral blood genetic analysis revealed an Arg/stop heteroconjugative mutation in codon 113 in exon 1 of the VHL gene on the short arm of chromosome 3 (p25–26). After various tests were performed, the patient was diagnosed with right renal cell carcinoma, malignant tumor of the pancreatic head, and multiple pancreatic cysts accompanying von Hippel-Lindau disease. Right nephrectomy and pancreatoduodenectomy were performed. Based on the histopathological results, the patient was diagnosed with right renal cell carcinoma and highly differentiated endocrine pancreatic cancer. Immunohistologically, a large number of atypical cells were found to be positive for both anti-chromogranin and anti-synaptophysin antibodies in the endocrine tumor. Immunostaining for each type of gut hormone was also performed, but all results were negative. Based on the above findings, nonfunctioning, highly differentiating endocrine cancer was diagnosed. This is the first confirmed case of renal cell carcinoma and endocrine pancreatic cancer occurring concurrently with VHL. This is an important case, so it is presented here along with a short discussion of the literature.     

Suprasellar Hemangioblastoma Mimicking a Craniopharyngioma: Result of Extended Endoscopic Transsphenoidal Approach—Case Report

Hemangioblastoma in the suprasellar region is rare. We present a case of a suprasellar hemangioblastoma that underwent surgical resection using an extended endoscopic transsphenoidal approach. A 64-year-old female patient presented with headache and decreased visual acuity for the last four years, computed tomography (CT) and magnetic resonance imaging (MRI) revealed a 2.5 cm irregular lesion in the suprasellar region. Our preoperative presumptive diagnosis was craniopharyngioma. The patient underwent an extended endoscopic transsphenoidal approach, the mass was subtotally removed. An endoscopic endonasal repair was needed due to the cerebrospinal fluid (CSF) leak. However, 1 month later, the patient got disturbance of consciousness because of the hydrocephalus. Ventriculoperitoneal shunt was used to solve the problem. Pathological findings were compatible with hemangioblastoma. Suprasellar hemangioblastoma is very rare. Any highly vascular lesions located in the suprasellar region should alert the surgeon to the possibility of hemangioblastoma. Extended endoscopic transsphenoidal approach adopted by us should not be the first choice of the treatment procedure for this kind of large and vascular tumor.     

Composite pleomorphic xanthoastrocytoma-ganglioglioma presenting as a suprasellar mass: case report

OBJECTIVE AND IMPORTANCE: Composite pleomorphic xanthoastrocytoma (PXA)-ganglioglioma (GG) is a recently recognized, rare type of neoplasm that most commonly presents as a temporal seizure focus among male patients less than 30 years of age. This case represents the only reported suprasellar presentation, with the youngest reported age at diagnosis. CLINICAL PRESENTATION: We present the case of a 12-year-old boy with new-onset diplopia who was diagnosed as having a large suprasellar mass, which was presumptively designated a craniopharyngioma on the basis of its clinical and radiological appearance. INTERVENTION: Gross total resection of a well-encapsulated tumor with adjacent cysts was achieved, without postoperative neurological deficits. Frozen-section studies suggested pilocytic astrocytoma; however, the final histological diagnosis was composite PXA-GG. CONCLUSION: Composite PXA-GG, although extremely rare, may present as a pediatric suprasellar mass. The histopathological diagnosis is contingent on the demonstration of distinct coincident PXA and GG components. The prognosis after gross subtotal resection is likely favorable; however, long-term follow-up monitoring is indicated for these rare neoplasms.     

Foreign body granuloma mimicking intracranial meningioma: case report and review of the literature

OBJECTIVE AND IMPORTANCE: Intracranial foreign body granulomas are rare. We describe a case of an intracranial foreign body granuloma found in a 17-year-old female patient 9 years after she underwent a craniotomy for a tumor of unknown type. Postoperative imaging of patients who have undergone neurosurgical procedures can often reveal enhancing masses, and foreign body granuloma should be included in the differential diagnosis. CLINICAL PRESENTATION: The patient presented with a history of developmental delay, panhypopituitarism, and chronic headache. Admission resulted from an acute increase in the severity of her headache. INTERVENTION: Imaging studies, including computed tomography and magnetic resonance imaging, demonstrated a 1.5 x 2 cm round, enhancing anterior interhemispheric mass, appearing to arise from the falx and causing mild mass effect. A nonenhancing cystic mass was also noted in the suprasellar region but was without mass effect. The patient underwent a craniotomy and removal of the anterior mass without complication, and her headache resolved. A pathological examination of the specimen confirmed the diagnosis of foreign body granuloma. CONCLUSION: Although rare, foreign body granuloma should be included in the differential diagnosis of previously operated intracranial masses. The importance of accurate historical information and guidelines that may assist in diagnosis are discussed.     

Third ventricular lesion masquerading as suprasellar disease

We discuss the case of a patient who presented with a bitemporal visual field disturbance thought to arise from chiasmatic compression secondary to a suprasellar mass. The patient was ultimately diagnosed with medulloblastoma with diffuse intraventricular disease. Careful review of magnetic resonance (MR) findings in this case demonstrate the apparent suprasellar mass to be within the suprachiasmatic recess of the third ventricle. The role of MR imaging in distinguishing between suprasellar disease involving the third ventricle and primary third ventricular lesions is discussed.     

Fibrous meningioma in a patient with von Hippel-Lindau disease: a genetic analysis.

Meningioma has been included in the constellation of tumors associated with von Hippel-Lindau (VHL) disease in previously published reports. It is unclear whether these tumors are an uncommon component of VHL disease or are more readily detected in these patients because of the frequency with which they undergo central nervous system imaging as part of the routine management of VHL disease. The authors report the case of a patient with VHL disease in whom a progressively enlarging supratentorial mass developed and was diagnosed as a hemangioblastoma because of its appearance on serial magnetic resonance images. At surgery the tumor displayed the typical features of a meningioma and was given the histological diagnosis of fibrous meningioma. Single-stranded conformational polymorphism analysis of the tumor DNA revealed a loss of heterozygosity at the neurofibromatosis Type 2 gene locus, known to be associated with sporadically occurring meningiomas. Despite this finding, the VHL gene locus on the allele from the patient's unaffected parent was normal. Thus it is unlikely that the occurrence of this patient's fibrous meningioma was associated with underlying VHL disease. Given the high frequency of neuroimaging sessions in patients with VHL disease, some supratentorial lesions that have been given radiological diagnoses of hemangioblastomas may be incidental meningiomas.     

Polyuria and polydipsia in a young boy--a case study (author's transl)

A 13-year-old boy with a teratoma in the sellar region was presented. This patient had gradually developed polyuria and polydipsia since 2 years prior to the first admission. Endocrinological examination showed a marked reduction of pituitary function. Careful neuroradiological examinations including CT failed to show any mass lesion in the sellar and suprasellar regions but a marked increase of the width of the third ventricle. CSF examination revealed only a slight increase of cell count (lymphocytes). The patient was discharged with hormonal replacement therapy. Seven months later the patient developed visual disturbance and mental disorders. On the second admission, plain skull films showed enlarged sella and CT demonstrated a mass in the suprasellar region. Preoperative diagnosis was suprasellar germinoma. At surgery a teratoma, probably arising from the pituitary fossa, was totally removed. Histopathology of the tumor showed tri-dermal tissues including melanotic progonoma and germinoma. The authors presented various problems of the patient and their solving processes.     

Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots: case report

OBJECTIVE AND IMPORTANCE: Spinal nerve root hemangioblastomas are rare and are reported mainly in patients with von Hippel-Lindau (VHL) syndrome. The pathogenesis of so-called nonfamilial lesions is virtually unknown. We discuss, mainly from a molecular perspective, a unique patient with sporadic, recurrent hemangioblastomas restricted to spinal nerve roots. CLINICAL PRESENTATION: A 53-year-old man who had had a surgically corrected lumbosacral meningomyelocele presented on at least three occasions during a 17-year period with multifocal capillary hemangioblastomas involving spinal nerve roots. On each occasion, tumors appeared on a different nerve root, with the majority located in the midcervical segments. The patient had no clinical features or family history of VHL syndrome. TECHNIQUE: To obtain a clearer understanding of the pathogenesis of this unusual case and its relationship to VHL syndrome, molecular analysis of the VHL gene was performed by use of complete sequence analysis and loss of heterozygosity studies on deoxyribonucleic acid derived from the patient's blood leukocytes and three separately resected hemangioblastomas. CONCLUSION: Germ-line molecular analysis performed on all three exons in the VHL gene coding region did not indicate that any mutations were present. Loss of heterozygosity analysis of deoxyribonucleic acid from the three hemangioblastoma resections showed normal heterozygosity in the 3p25-26 region. Complete VHL gene sequence analysis did not demonstrate a somatic mutation in the coding region of the VHL gene in any of the three tumors, thereby supporting the loss of heterozygosity data that a molecular event directly involving the VHL gene may not be the causative factor in their tumorigenesis.     

Myofibroblastoma in the suprasellar region. Case report

Myofibroblastoma is a rare type of benign mesenchymal tumor; only two cases of intracranial myofibroblastoma have been reported in the literature. The authors report on the case of a 34-year-old woman with a myofibroblastoma in the suprasellar region who presented with the complaint of sudden onset of headache followed within 2 weeks by progressively worsening visual disturbance. Computerized tomography scanning demonstrated a mixed low- and high-density mass in the suprasellar region and contrast-enhanced magnetic resonance imaging revealed the mass to be of mixed intensity with heterogeneous enhancement. The tumor was subtotally removed via a right frontobasal translamina-terminalis approach and her vision improved immediately. Histologically, the tumor was characterized by alternating areas of spindle-shaped and round cells that were separated by collagen fibers. The diagnosis of myofibroblastoma was based on the tumor's intense immunoreactivity for alpha-smooth-muscle actin and the ultrastructural identification of myofibroblasts. The tumor was thought to have originated from the meninges in the suprasellar region.     

Spinal hemangioblastoma containing metastatic renal cell carcinoma in von Hippel-Lindau disease. Case report and review of the literature

The authors describe the case of a patient with von Hippel-Lindau (VHL) disease in which a spinal hemangioblastoma contained metastatic renal cell carcinoma (RCC). The literature on tumor-to-tumor metastasis associated with VHL disease of the central nervous system (CNS) is reviewed. Midthoracic back pain developed in this 43-year-old man with a left-sided radicular component 2 years after he underwent resection of a left RCC. Radiological findings demonstrated a T6-7 intradural intramedullary lesion. A T5-8 laminectomy and gross-total resection of the spinal cord mass were performed. Light and electron microscopic examination showed features of hemangioblastoma, which contained metastatic foci of RCC. Genetic analysis demonstrated the presence of a deleting mutation in the first exon (nt. 394-406) of the VHL locus, truncating 16 amino acids (N61-77) from the first beta sheet in the VHL protein. A review of the literature revealed that RCC-to-CNS hemangioblastoma is the second most common donor-recipient tumor association among the tumor-to-tumor metastases.