von Hippel‐Lindau development in children and adolescents

Launbjerg, Karoline; Bache, Iben; Galanakis, Michael; Bisgaard, Marie Luise; Binderup, Marie Louise Mølgaard

doi:10.1002/ajmg.a.38324

Cited by 27 publications

(21 citation statements)

References 41 publications

(74 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Both sporadic and VHL-associated hemangioblastomas are extremely rare in childhood (incidence < 1 per 1,000,000). The youngest age of VHL-associated CNS hemangioblastoma is reported at 6 years [ 28 ]. But the most common early manifestations in VHL patients < 18 years are retinal (34%) and CNS (29%) hemangioblastoma [ 28 ].…”

Section: Age At Manifestationmentioning

confidence: 99%

“…The youngest age of VHL-associated CNS hemangioblastoma is reported at 6 years [ 28 ]. But the most common early manifestations in VHL patients < 18 years are retinal (34%) and CNS (29%) hemangioblastoma [ 28 ]. If a CNS hemangioblastoma is first detected in childhood, an underlying VHL disease should always be suspected and further examined [ 29 , 30 ].…”

Section: Age At Manifestationmentioning

confidence: 99%

“…Particularly in pediatric patients with few studies available, the optimal timing of surgical intervention remains a matter of debate [ 29 , 30 ]. Lifelong repeated MRI scans of the brain and spinal cord (annual) are recommended for VHL patients, irrespective of the number of previously known tumors or absence of symptomatology [ 4 , 28 , 29 , 42 ].…”

Section: Surgical Timingmentioning

confidence: 99%

See 2 more Smart Citations

Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment

et al. 2020

View full text Add to dashboard Cite

Introduction Hemangioblastomas are rare, histologically benign, highly vascularized tumors of the brain, the spinal cord, and the retina, occurring sporadically or associated with the autosomal dominant inherited von Hippel-Lindau (VHL) disease. Children or adults with VHL disease have one of > 300 known germline mutations of the VHL gene located on chromosome 3. They are prone to develop hemangioblastomas, extremely rarely starting at age 6, rarely at age 12–18, and, typically and almost all, as adults. There is a plethora of VHL-associated tumors and cysts, mainly in the kidney, pancreas, adrenals, reproductive organs, and central nervous system. Due to a lack of causal treatment, alleviation of symptoms and prevention of permanent neurological deficits as well as malignant transformation are the main task. Paucity of data and the nonlinear course of tumor progression make management of pediatric VHL patients with hemangioblastomas challenging. Methods The Freiburg surveillance protocol was developed by combining data from the literature and our experience of examinations of > 300 VHL patients per year at our university VHL center. Results Key recommendations are to start screening of patients at risk by funduscopy with dilated pupils for retinal tumors with admission to school and with MRI of the brain and spinal cord at age 14, then continue biannually until age 18, with emergency MRI in case of neurological symptoms. Indication for surgery remains personalized and should be approved by an experienced VHL board, but we regard neurological symptoms, rapid tumor growth, or critically large tumor/cyst sizes as the key indications to remove hemangioblastomas. Since repeated surgery on hemangioblastomas in VHL patients is not rare, modern neurosurgical techniques should encompass microsurgery, neuronavigation, intraoperative neuromonitoring, fluorescein dye-based intraoperative angiography, intraoperative ultrasound, and minimally invasive approaches, preceded in selected cases by endovascular embolization. Highly specialized neurosurgeons are able to achieve a very low risk of permanent morbidity for the removal of hemangioblastomas from the cerebellum and spinal cord. Small retinal tumors of the peripheral retina can be treated by laser coagulation, larger tumors by cryocoagulation or brachytherapy. Conclusion We consider management at experienced VHL centers mandatory and careful surveillance and monitoring of asymptomatic lesions are required to prevent unnecessary operations and minimize morbidity.

show abstract

Section: Age At Manifestationmentioning

confidence: 99%

Section: Age At Manifestationmentioning

confidence: 99%

Section: Surgical Timingmentioning

confidence: 99%

See 1 more Smart Citation

Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Children with cystic nephroma often have germline DICER1 mutations, which also predispose them to several other benign and malignant tumors and require regular monitoring (79). Patients with von Hippel-Lindau syndrome can develop simple or complex kidney cysts and clear-cell renal cell carcinoma (80).…”

Section: Complex Cysts and Cystic Tumorsmentioning

confidence: 99%

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement

Gimpel¹,

Avni²,

Breysem³

et al. 2019

Radiology

View full text Add to dashboard Cite

ystic kidney diseases are being diagnosed earlier and earlier (1) because of more accessible routine prenatal US and advances in US technology. However, differential diagnosis often remains a challenge because kidney cysts can arise in a large variety of illnesses, imaging patterns evolve over time, and extrarenal features of systemic diseases may not be present at a young age. Thus, imaging findings for a particular disease in newborns may be different from those in adolescents, and predicting prognosis or deciding on optimal follow-up intervals can be challenging. Imaging can contribute not only to accurate diagnosis and prognosis but also to rational management of cystic nephropathies. In adults with autosomal dominant polycystic kidney disease (ADPKD), for example, total kidney volume measured at MRI has emerged as a useful tool with which to identify patients who will benefit from treatment (2); however, transfer and adaptation of these findings to children is still an important research need. The purpose of this consensus statement is to establish uniform standards for choosing the correct imaging modality and diagnostic criteria for the most common cystic kidney diseases in childhood and adolescence and to propose rational approaches to diagnosis and follow-up in important clinical settings. The spectrum of diseases covered here includes simple cysts; multicystic dysplastic kidneys (MCDKs); cystic dysplasia and HNF1B-associated disease; autosomal recessive polycystic kidney disease (ARPKD) and ADPKD; other ciliopathies, such as nephronophthisis and Bardet-Biedl syndrome; acquired cystic kidney disease

show abstract

“…Most cases are sporadic, and about 20-38% of patients also have Von-Hippel-Lindau (VHL) disease, which is an autosomal dominant genetic condition with an incidence of 1/27,300-1/45,000 [1][2][3]. The VHL gene located on chromosome 3p25-26 and is an important tumor suppressor gene that contains 3 exons [4,5]. The VHL gene is transcribed to a 4.5-kb-long mRNA that encodes a VHL protein (PVHL) containing 213 amino acids.…”

Section: Introductionmentioning

confidence: 99%

CT and MRI Characteristic Findings of Sporadic Renal Hemangioblastoma: Two Case Reports and Review of the Literature

Liu

et al. 2020

Preprint

View full text Add to dashboard Cite

BackgroundHemangioblastoma in the kidney is rare. Although a few renal hemangioblastoma cases have been reported, the content of these articles mainly focused on clinical and pathological research, with minimal descriptions of radiologic findings. Moreover, there are no descriptions of magnetic resonance imaging with enhancement for this condition. We herein report two cases of renal hemangioblastoma with computed tomography and magnetic resonance imaging findings.Case presentationTwo patients presented to our institution due to dull pain of the left abdomen, and a mass in the left kidney was found by ultrasound examination in each case. They had no special family history. Physical examination revealed no obvious tenderness or percussion pain in the renal region and ureteral walking area, and there was no obvious mass. Routine blood and urine tests were normal, and serum tumor markers were negative. No obvious lesions were found on imaging of other body parts. Similar radiologic findings were observed in both cases and mimicked those of cavernous hemangiomas of the liver, including peripheral nodular enhancement in the corticomedullary phase, progressive centripetal enhancement in the nephrographic and delayed phases, and occasional complete “filling in” in the delayed phase. Given the suspicion for renal cell carcinoma, both patients underwent partial nephrectomy. The pathological results showed renal hemangioblastoma.ConclusionsRenal hemangioblastoma is a rare benign tumor that is easily misdiagnosed as clear cell carcinoma. Characteristic computed tomography and magnetic resonance imaging manifestations may improve preoperative diagnostic accuracy to avoid surgery or indicate nephron-sparing surgery.

show abstract

von Hippel‐Lindau development in children and adolescents

Cited by 27 publications

References 41 publications

Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment

Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement

CT and MRI Characteristic Findings of Sporadic Renal Hemangioblastoma: Two Case Reports and Review of the Literature

Contact Info

Product

Resources

About