scholarly journals Sporadic Hemangioblastoma of the Kidney: A clinicopathologic study of 3 cases and review of the literature

2020 ◽  
Author(s):  
Yanmei Xu ◽  
Xuehua Ma ◽  
Yong Ma ◽  
Juan Li ◽  
Renya Zhang ◽  
...  
Keyword(s):  
Tumor Cells ◽  
S100 Protein ◽  
Vascular Networks ◽  
Uniform Size ◽  
Von Hippel Lindau ◽  
Clinicopathologic Study ◽  
Eosinophilic Cytoplasm ◽  
The Central Nervous System ◽  
Lipid Vacuoles ◽  
Vhl Disease

Abstract Background: Hemangioblastoma is a benign tumor of unknown histogenesis that mainly occurs in the central nervous system (CNS) associated with von Hippel-Lindau (VHL) disease. Much attention has been paid to the renal hemangioblastoma, but there are still some challenges in the differential diagnosis.Case presentation: Here, we describe three cases of sporadic renal hemangioblastoma with no clinical features of VHL diseases. All the three patients (male: 2; female: 1) were 40-56 years old. In all cases, the tumors were surrounded by a thick fibrous capsule and well-demarcated from the surrounding renal parenchyma. Tumors were composed of sheets or nests of polygonal to short spindle tumor cells and a rich capillary network. In case 1 and case 3, the large polygonal tumor cells contained abundant pale or eosinophilic cytoplasm, and some of the cells possessed intracytoplasmic lipid vacuoles. In case 2, tumor cells were characterized by uniform size, mild, clear or lightly stained cytoplasm and typical "clear cell" appearance. In the views of immunohistochemistry, the polygonal stromal cells were strongly and diffusely positive for α-inhibin, NSE, S100 protein, and vimentin. CD10 and PAX8 were positive, while EMA and CK showed focally positive in case 3. CK8/18, HMB45, MelanA, CgA, Syn, SMA, Desmin and CD56 were all negative. CD34 and CD31 outlined the contours and distribution of vascular networks in tumors. Conclusions: Renal hemangioblastoma is rare and prone to be misdiagnosed. More attention should be paid to the morphological features and reasonable application of immunohistochemistry for the diagnosis of hemangioblastoma.

scholarly journals Sporadic hemangioblastoma of the kidney: a clinicopathologic study of three cases and a literature review

2021 ◽  
Vol 49 (7) ◽  
pp. 030006052110277
Author(s):  
Yanmei Xu ◽  
Xuehua Ma ◽  
Yong Ma ◽  
Juan Li ◽  
Renya Zhang ◽  
...  
Keyword(s):  
Tumor Cells ◽  
S100 Protein ◽  
Neuron Specific Enolase ◽  
Renal Tumors ◽  
Vascular Networks ◽  
Uniform Size ◽  
Clinicopathologic Study ◽  
Eosinophilic Cytoplasm ◽  
Lipid Vacuoles ◽  
Cluster Of Differentiation

Much attention has been paid to renal hemangioblastoma, but there are still challenges in its differential diagnosis. Three cases (2 men, 1 woman; age: 40–56 years) presented with renal tumors. The tumors were surrounded by a thick fibrous capsule, well-demarcated from the surrounding renal parenchyma, and composed of sheets or nests of polygonal to short spindle-shaped tumor cells with a rich capillary network. In cases 1 and 3, the large polygonal tumor cells contained abundant pale or eosinophilic cytoplasm, and some possessed intracytoplasmic lipid vacuoles. In case 2, tumor cells were characterized by a uniform size, mild, clear, or lightly stained cytoplasm, and typical "clear cell" appearance. Immunohistochemistry revealed that the polygonal stromal cells were strongly and diffusely positive for α-inhibin, neuron-specific enolase (NSE), S100 protein, and vimentin. Cluster of differentiation (CD)10 and paired box gene (PAX)8 were positive, while epithelial membrane antigen (EMA) and cytokeratin (CK) were focally positive in case 3. CD34 and CD31 outlined the contours and distribution of the vascular networks. Renal hemangioblastoma is rare and prone to misdiagnosis; more attention should be paid to the morphological features and reasonable application of immunohistochemistry in the diagnosis of hemangioblastoma.

scholarly journals Primary Hemangioblastoma of Kidney with Molecular Analyses by Next Generation Sequencing: A Case Report and Review of the Literature

2021 ◽  
Author(s):  
Xintong Wang ◽  
George K Haines ◽  
Jane Houldsworth ◽  
Qiusheng Si
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Renal Cell ◽  
Pathological Examination ◽  
Molecular Evidence ◽  
Pathologic Features ◽  
Eosinophilic Cytoplasm ◽  
The Central Nervous System ◽  
Positive Immunostaining ◽  
Vhl Disease

Abstract Background: Hemangioblastoma is an indolent mesenchymal tumor most frequently occurring in the central nervous system (CNS), but can also arise extraneuraxially, as part of von Hippel-Lindau (VHL) disease or in sporadic cases. Extraneuraxial hemangioblastomas (EH) occur outside the central nervous system. It includes tumors arising from the nervous paraneuraxial structures and visceral organs. Sporadic hemangioblastoma of the kidney, a rare subset of EH, is an under-recognized renal neoplasm. There have been only 25 cases described to date in the English language literature. We report herein one additional case in a patient without VHL disease.Case presentation: A 61 year old male presenting with gross hematuria was found to have a 3.5 cm renal mass at the lateral mid to lower pole of the left kidney on computed tomography urogram. Patient underwent a partial nephrectomy for the mass. The pathological examination showed a well-circumscribed non-encapsulated tumor composed of sheets of large polygonal cells traversed by a rich vascular network. The tumor cells showed clear to eosinophilic cytoplasm and overall bland nuclei. The diagnosis of hemangioblastoma was confirmed by positive immunostaining for alpha-inhibin, S100, neuron-specific enolase, PAX8, and negative staining for epithelial membrane antigen, HMB-45, and Melan-A. VHL gene mutation was not detected in this tumor. The diagnosis of sporadic renal hemangioblastoma was made.Conclusion: Sporadic renal hemangioblastoma (RH) is a rare subset of EH. We report herein one such case in a patient without clinical or molecular evidence of VHL disease. We reviewed the literature to better understand the clinical, radiological and pathologic features of this neoplasm. From our review cases and the present case, we have found that the majority of RHs showed a positive immunostaining for PAX8, which supports the idea that the immunoprofiles of EH can vary depending on sites of origin. Diagnosis of renal hemangioblastoma is challenging because of its rarity and overlapping microscopic and immunophenotypic features with renal cell tumor, especially with clear cell renal cell carcinoma. However, accurate diagnosis is necessary, since RH is clinically benign and correct recognition of this pathological entity is important to avoid unnecessary over treatment.

The natural history of hemangioblastomas of the central nervous system in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 82-94 ◽  
Author(s):  
John E. Wanebo ◽  
Russell R. Lonser ◽  
Gladys M. Glenn ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Natural History ◽  
Mass Effect ◽  
Content Type ◽  
Von Hippel Lindau ◽  
History Of ◽  
The Central Nervous System ◽  
Brainstem Tumors ◽  
Vhl Disease ◽  
Fine Print

Object. The goals of this study were to define the natural history and growth pattern of hemangioblastomas of the central nervous system (CNS) that are associated with von Hippel—Lindau (VHL) disease and to correlate features of hemangioblastomas that are associated with the development of symptoms and the need for treatment. Methods. The authors reviewed serial magnetic resonance images and clinical histories of 160 consecutive patients with VHL disease who harbored CNS hemangioblastomas and serially measured the volumes of tumors and associated cysts. Six hundred fifty-five hemangioblastomas were identified in the cerebellum (250 tumors), brainstem (64 tumors, all of which were located in the posterior medulla oblongata), spinal cord (331 tumors, 96% of which were located in the posterior half of spinal cord), and the supratentorial brain (10 tumors). The symptoms were related to a mass effect. A serial increase in hemangioblastoma size was observed in cerebellar, brainstem, and spinal cord tumors as patients progressed from being asymptomatic to symptomatic and requiring surgery (p < 0.0001). Twenty-one (72%) of 29 symptom-producing cerebellar tumors had an associated cyst, whereas only 28 (13%) of 221 nonsymptomatic cerebellar tumors had tumor-associated cysts (p < 0.0001). Nine (75%) of 12 symptomatic brainstem tumors had associated cysts, compared with only four (8%) of 52 nonsymptomatic brainstem lesions (p < 0.0001). By the time the symptoms appeared and surgery was required, the cyst was larger than the causative tumor; cerebellar and brainstem cysts measured 34 and 19 times the size of their associated tumors at surgery, respectively. Ninety-five percent of symptom-producing spinal hemangioblastomas were associated with syringomyelia. The clinical circumstance was dynamic. Among the 88 patients who had undergone serial imaging for 6 months or longer (median 32 months), 164 (44%) of 373 hemangioblastomas and 37 (67%) of 55 tumor-associated cysts enlarged. No tumors or cysts spontaneously diminished in size. Symptomatic cerebellar and brainstem tumors grew at rates six and nine times greater, respectively, than asymptomatic tumors in the same regions. Cysts enlarged seven (cerebellum) and 15 (brainstem) times faster than the hemangioblastomas causing them. Hemangioblastomas frequently demonstrated a pattern of growth in which they would enlarge for a period of time (growth phase) and then stabilize in a period of arrested growth (quiescent phase). Of 69 patients with documented tumor growth, 18 (26%) harbored tumors with at least two growth phases. Of 160 patients with hemangioblastomas, 34 patients (median follow up 51 months) were found to have 115 new hemangioblastomas and 15 patients new tumor-associated cysts. Conclusions. In this study the authors define the natural history of CNS hemangioblastomas associated with VHL disease. Not only were cysts commonly associated with cerebellar, brainstem, and spinal hemangioblastomas, the pace of enlargement was much faster for cysts than for hemangioblastomas. By the time symptoms appeared, the majority of mass effect—producing symptoms derived from the cyst, rather than from the tumor causing the cyst. These tumors often have multiple periods of tumor growth separated by periods of arrested growth, and many untreated tumors may remain the same size for several years. These characteristics must be considered when determining the optimal timing of screening for individual patients and for evaluating the timing and results of treatment.

A 10-year retrospective study of hemangioblastomas of the central nervous system with reference to von Hippel–Lindau (VHL) disease

2011 ◽  
Vol 18 (7) ◽  
pp. 939-944 ◽  
Author(s):  
Somanath Padhi ◽  
RajLaxmi Sarangi ◽  
Sundaram Challa ◽  
Priyatamjee Bussary ◽  
Manas K. Panigrahi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Retrospective Study ◽  
Von Hippel Lindau ◽  
The Central Nervous System ◽  
Vhl Disease

scholarly journals Pathology of the Nervous System in Von Hippel-Lindau Disease

2015 ◽  
Vol 2 (3) ◽  
pp. 114-129 ◽  
Author(s):  
Alexander O. Vortmeyer ◽  
Ahmed K. Alomari
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hypoxia Inducible Factors ◽  
Metastatic Renal Cancer ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Vhl Disease ◽  
Common Manifestation

Von Hippel-Lindau (VHL) disease is a tumor syndrome that frequently involves the central nervous system (CNS). It is caused by germline mutation of the VHL gene. Subsequent VHL inactivation in selected cells is followed by numerous well-characterized molecular consequences, in particular, activation and stabilization of hypoxia-inducible factors HIF1 and HIF2. The link between VHL gene inactivation and tumorigenesis remains poorly understood. Hemangioblastomas are the most common manifestation in the CNS; however, CNS invasion by VHL disease-associated endolymphatic sac tumors or metastatic renal cancer also occur, and their differentiation from primary hemangioblastoma may be challenging. Finally, in this review, we present recent morphologic insights on the developmental concept of VHL tumorigenesis which is best explained by pathologic persistence of temporary embryonic progenitor cells. 

Hemangioblastomas of the Central Nervous System in von Hippel-Lindau Syndrome and Sporadic Disease

Neurosurgery ◽  
2001 ◽  
Vol 48 (1) ◽  
pp. 55-63 ◽  
Author(s):  
James E. Conway ◽  
Dean Chou ◽  
Richard E. Clatterbuck ◽  
Henry Brem ◽  
Donlin M. Long ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Von Hippel Lindau ◽  
Multiple Lesions ◽  
Younger Age ◽  
The Central Nervous System ◽  
Sporadic Disease ◽  
Vhl Disease

Abstract OBJECTIVE The presentation, screening, management, and clinical outcomes of patients who presented to our institution from 1973 to 1999 with central nervous system (CNS) hemangioblastomas in von Hippel-Lindau (VHL) syndrome and sporadic disease were analyzed. METHODS The surgical pathology database of our institution was searched to identify all patients with histologically verified CNS hemangioblastomas occurring from 1973 to 1999. The medical, radiological, surgical, pathological, and autopsy records from these patients were reviewed retrospectively and statistically analyzed. RESULTS Forty patients (21 males and 19 females) presented with CNS hemangioblastomas. Twenty-five patients (62%) harbored sporadic hemangioblastomas. Fifteen patients (38%) had VHL syndrome. These 40 patients presented with 61 hemangioblastomas (8 patients had multiple lesions). Ten patients (25%) harbored spinal cord hemangioblastomas (5 patients had multiple lesions). Patients with VHL disease tended to present with neurological symptoms and signs at a younger age than patients with sporadic disease (P = 0.09), to present with multiple lesions (53%), and to develop new lesions (rate, 1 lesion/2.1 yr). Hemangioblastomas of the spinal cord were more prevalent in patients with VHL syndrome (P = 0.024). Neuroradiological screening of patients with VHL syndrome allowed identification of more than 75% of new lesions before they became symptomatic. Sixty-six surgical procedures were performed (12 patients required multiple operations). Six patients with VHL syndrome required surgery for new lesions. Surgical complications occurred in six patients (15%). Symptom resolution or arrest of progression at 1 year was documented in 88% of patients. Recurrence of symptoms from partially resected lesions occurred in eight patients (20%). No deaths associated with surgery occurred. One patient with sporadic disease and one patient with VHL syndrome (5%) died as a result of late medical complications from CNS hemangioblastomas. CONCLUSION Surgical outcomes for patients with CNS hemangioblastomas are favorable. However, management of hemangioblastomas is a more difficult and prolonged endeavor for patients with VHL syndrome. In patients with VHL syndrome, neuroradiological screening allows identification of lesions before they become symptomatic. Because patients with VHL syndrome are at risk for development of new lesions, they require lifelong follow-up.

scholarly journals Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1005
Author(s):  
Mariachiara Lodi ◽  
Antonio Marrazzo ◽  
Antonella Cacchione ◽  
Marina Macchiaiolo ◽  
Antonino Romanzo ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Suppressor Gene ◽  
Cerebellar Hemisphere ◽  
Cancer Syndrome ◽  
Endolymphatic Sac Tumor ◽  
Von Hippel Lindau ◽  
Fourth Decade ◽  
Left Cerebellar Hemisphere ◽  
The Central Nervous System ◽  
Vhl Disease

Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60–80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10–15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition.

Metastatic Malignant Paraganglioma: A Case Report

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S69-S70
Author(s):  
Suhalika Sahni ◽  
Vikas Mehta
Keyword(s):  
Liver Biopsy ◽  
Tumor Cells ◽  
Metastatic Disease ◽  
Neurofibromatosis Type ◽  
Ki 67 ◽  
Malignant Paraganglioma ◽  
Fibrous Stroma ◽  
Von Hippel Lindau ◽  
Sustentacular Cells ◽  
Eosinophilic Cytoplasm

Abstract Objectives Paragangliomas are rare neuroendocrine tumors that arise from chromaffin cells with the ability to secrete catecholamines. The estimated combined prevalence is between 1:6,500 and 1:2,500. Paragangliomas can have a benign or a malignant course with incidence of malignant paraganglioma estimated to be 93/400 million. The majority of paragangliomas are sporadic but may be related to syndromes like multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and neurofibromatosis type 1. Methods We present a unique case of a 25-year-old female who presented with a hepatic mass. Further workup showed an enhancing hypervascular mass along with lesions within the bilateral lungs, liver, spleen, and sclerotic osseous metastatic disease at cervical thoracic lumbar and sacral spine. A liver biopsy was performed, which was consistent with the diagnosis of a metastatic paraganglioma. Results The liver biopsy showed a tumor consisting of epithelioid and polygonal tumor cells with eosinophilic cytoplasm present in a vascularized fibrous stroma in a sinusoidal pattern. In certain areas, the tumor cells show marked pleomorphism with large cells with macronuclei and bizarre shapes. On immunohistochemistry (IHC), the tumor cells were strongly and diffusely positive for CD56 and vimentin and focally positive for synaptophysin and chromogranin. S100 highlighted sustentacular cells. Ki-67 was very low, staining less than 2%. In addition, the tumor cells showed loss of expression of SDHB by IHC. Conclusion Metastatic malignant nonsecretory paraganglioma is an extremely rare disease. The most unique pathological aspect of paragangliomas is that tissue acquired from different organ appears the same histologically and yet different in terms of prognosis. Metastatic hepatic paraganglioma in our patient offers interesting insights to appreciate the rare metastatic nature of paraganglioma to the liver. The elusive nature of the metastatic disease in paraganglioma poses a challenge to clinicians since the diagnosis of metastatic hepatic paraganglioma is usually clinically undiagnosed.

Metastases to hemangioblastomas in von Hippel–Lindau disease

2006 ◽  
Vol 105 (2) ◽  
pp. 256-263 ◽  
Author(s):  
S. Taylor Jarrell ◽  
Alexander O. Vortmeyer ◽  
W. Marston Linehan ◽  
Edward H. Oldfield ◽  
Russell R. Lonser
Keyword(s):  
Pancreatic Neuroendocrine Tumor ◽  
Von Hippel Lindau ◽  
Increased Risk ◽  
Age At Surgery ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Histological Characteristics ◽  
Tumor Metastases ◽  
Vhl 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.

scholarly journals A case of von Hippel-Lindau disease with multi-organ involvement: a rare case report

2020 ◽  
Vol 7 (5) ◽  
pp. 1684
Author(s):  
Mrinal Bhuyan ◽  
Debadatta Saha ◽  
Basanta Kumar Baishya ◽  
Ashish Ghanghoria
Keyword(s):  
Early Recognition ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Von Hippel Lindau ◽  
Rare Case Report ◽  
Complete Tumour ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Vhl Disease

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of tumours in the central nervous system (CNS) and other visceral organs. We herein report a case of 35 years aged newly diagnosed diabetic female patient presented with headache, gait instability, loss of vision in both eyes, left sided hearing impairment and subsequently diagnosed to have VHL disease. The pathophysiology involves the inactivation of the VHL tumour suppressor gene. Early recognition and treatment remains the mainstay of management. Even many years after the complete tumour excision, newer neoplasms may develop. Increasing knowledge about the molecular enabled us to investigate the role of anti-angiogenic drugs. Continuous surveillance at regular interval must be conducted in patients with VHL disease. 

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