Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation

Gomy, Israel; Molfetta, Greice Andreotti de; Barreto, Ester A.; Ferreira, Cristiane Ayres; Zanette, Dalila Lucíola; Casali-da-Rocha, José Claudio; Silva, Wilson A.

doi:10.1007/s10689-010-9357-2

Cited by 19 publications

(21 citation statements)

References 27 publications

(57 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Fifteen articles from nine different countries (Chacon‐Camacho et al, ; Chen et al, ; Gergics et al, ; Gomy et al, ; Huang et al, ; Hwang et al, ; Leonardi, Martella, Tosatto, & Murgia, ; Levine, Collins, Horton, & Schimke, ; Prasad et al, ; Rasmussen et al, ; Ruiz‐Llorente et al, ; Vikkath et al, ; Wang et al, ; Wu et al, ; Zhang et al, ) reported a vHL cohort with at least one child/adolescent and a total of more than five patients (Table ). In total, 62 patients were identified with a vHL diagnosis before 18 years, and information about their ages, genotypes, and phenotypes were extracted from the articles when available.…”

Section: Resultsmentioning

confidence: 99%

von Hippel‐Lindau development in children and adolescents

Launbjerg

Bache

Galanakis

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

The autosomal dominant von Hippel-Lindau disease (vHL) is associated with a lifelong risk of tumor development, especially retinal and CNS hemangioblastomas, pheochromocytoma, and renal cell carcinoma. Knowledge of paediatric vHL development is limited, and current surveillance guidelines are based on expert opinions. We aimed to describe the course of vHL development in children and adolescents, focusing on age at first manifestation, manifestation frequencies, and types. The prevalence of vHL diagnosis as well as manifestations in childhood were evaluated based on 99 patients, who had started surveillance before 18 years: 37 Danish patients from the national vHL research database and 62 international patients reported in 15 articles. Overall, 70% (69 of 99) developed manifestations before 18 years (median age at first manifestation: 12 years (range: 6-17 years)). Thirty per cent (30 of 99) had developed more than one manifestation type; the most frequent were retinal (34%) and CNS (30%) hemangioblastomas. Among the 37 Danish patients, 85% (97 of 116) of their tumors were asymptomatic. Vision outcome is significantly improved in hemangioblastomas that are treated while still asymptomatic. We agree with current guidelines that retinal surveillance be performed from birth. The patients had their first CNS hemangioblastomas at the median ages of 13-14 years (range: 6-17 years). Further, 11% (4 of 37) of the Danish patients had CNS surgery in their teenage years. Although the cohort is too small to make definite conclusions about specific initiation ages, regular CNS surveillance from vHL patients' teenage years seems clinically relevant.

show abstract

Section: Resultsmentioning

confidence: 99%

von Hippel‐Lindau development in children and adolescents

Launbjerg

Bache

Galanakis

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Type 2C is mostly presented with isolated unilateral or bilateral pheochromocytoma (6,8). In some studies, the genotypephenotype correlation of the subtypes of VHL syndrome has been tried to be established (8,9). While missense mutations are frequently detected in VHL Type 2, missense and nonsense mutations are more frequent in VHL Type 1 (9) ( Table II).…”

Section: Discussionmentioning

confidence: 99%

Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C

Acar¹,

Tuhan²,

Demir³

et al. 2018

jpr

View full text Add to dashboard Cite

Pheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. In this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.

show abstract

“…Type IIA and IIB families have a low and high incidence of RCC, res p e c t i v e l y , w h i l e t y p e I I C k i n d r e d s a r e characterized by the development of pheochromocytomas only, without RCC or hemangioblastoma. Patients in kindreds with type I disease have a substantially lower risk of developing pheochromocytomas (Gomy et al, 2010 (Ciotti et al, 2009). The VHL tumor suppressor gene is located on chromosome 3p25-26.…”

Section: Vhl Syndromementioning

confidence: 99%