Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease

被引：0

作者：

Caballero, Marina ^{[1
]}

Lopez, Vicente Santa-Maria ^{[1
]}

Marti, Laura ^{[2
]}

Martorell, Loreto ^{[2
]}

Salinas, Diana ^{[2
]}

Hinojosa, Jose ^{[3
]}

Becerra, Maria Victoria ^{[3
]}

Pavon-Mengual, Miriam ^{[1
]}

La Madrid, Andres Morales ^{[1
]}

Cruz, Ofelia ^{[1
]}

Muchart, Jordi ^{[4
]}

Salvador, Hector ^{[5
]}

机构：

[1] Hosp St Joan Deu, Pediat Canc Ctr Barcelona, Neurooncol Unit, Barcelona, Spain

[2] Hosp St Joan Deu, Dept Med & Mol Genet, Barcelona, Spain

[3] Hosp St Joan Deu, Dept Pediat Neurosurg, Barcelona, Spain

[4] Hosp St Joan Deu, Dept Diagnost Imaging, Barcelona, Spain

[5] St Joan Deu Hosp, Pediat Canc Ctr Barcelona, Canc Predisposit Unit, Barcelona, Spain

来源：

JOURNAL OF MEDICAL GENETICS | 2025年 / 62卷 / 06期

关键词：

Genetic Counselling; Central Nervous System Diseases; Neoplasms; Congenital; Hereditary; and Neonatal Diseases and Abnormalities; Early Diagnosis; CENTRAL-NERVOUS-SYSTEM;

D O I：

10.1136/jmg-2024-110477

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Von Hippel-Lindau disease is a genetic disorder characterised by the development of a variety of tumours and cysts, with central nervous system (CNS) haemangioblastoma being the most common manifestation. Early diagnosis through genetic counselling and surveillance is crucial for detecting asymptomatic stages of the disease to minimise morbidity and mortality associated with tumour complications and treatment interventions. In this report, we describe two cases of very early-onset symptomatic CNS haemangioblastoma and discuss the potential improvement in surveillance protocols by including both clinical and genetic factors.

引用

页码：409 / 412

页数：4

共 21 条

[1] Evidence for genetic anticipation in von Hippel-Lindau syndrome [J].

Aronoff, Laura ;

Malkin, David ;

van Engelen, Kalene ;

Gallinger, Bailey ;

Wasserman, Jonathan ;

Kim, Raymond H. ;

Villani, Anita ;

Meyn, M. Stephen ;

Druker, Harriet .

JOURNAL OF MEDICAL GENETICS, 2018, 55 (06) :395-402

[2] Von Hippel-Lindau Syndrome [J].

Ben-Skowronek, Iwona ;

Kozaczuk, Sylwia .

HORMONE RESEARCH IN PAEDIATRICS, 2015, 84 (03) :145-152

[3] von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance [J].

Binderup, Marie Louise M. ;

Smerdel, Maja ;

Borgwadt, Line ;

Nielsen, Signe Sparre Beck ;

Madsen, Mia Gebauer ;

Moller, Hans Ulrik ;

Kiilgaard, Jens Folke ;

Friis-Hansen, Lennart ;

Harbud, Vibeke ;

Cortnum, Soren ;

Owen, Hanne ;

Gimsing, Steen ;

Juhl, Henning Anker Friis ;

Munthe, Sune ;

Geilswijk, Marianne ;

Rasmussen, Ase Krogh ;

Moldrup, Ulla ;

Graumann, Ole ;

Donskov, Frede ;

Gronbaek, Henning ;

Stausbol-Gron, Brian ;

de Muckadell, Ove Schaffalitzky ;

Knigge, Ulrich ;

Dam, Gitte ;

Wadt, Karin Aw ;

Bogeskov, Lars ;

Bagi, Per ;

Lund, Lars ;

Stochholm, Kirstine ;

Ousager, Lilian Bomme ;

Sunde, Lone .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (08)

[4] Survival and causes of death in patients with von Hippel-Lindau disease [J].

Binderup, Marie Louise Molgaard ;

Jensen, Annette Moller ;

Budtz-Jorgensen, Esben ;

Bisgaard, Marie Luise .

JOURNAL OF MEDICAL GENETICS, 2017, 54 (01) :11-18

[5] Risk of new tumors in von Hippel-Lindau patients depends on age and genotype [J].

Binderup, Marie Louise Molgaard ;

Budtz-Jorgensen, Esben ;

Bisgaard, Marie Luise .

GENETICS IN MEDICINE, 2016, 18 (01) :89-97

[6]

Binderup Marie Louise Molgaard, 2013, Dan Med J, V60, pB4763

[7] Neurologic manifestations of von Hippel-Lindau disease [J].

Butman, John A. ;

Linehan, W. Marston ;

Lonser, Russell R. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2008, 300 (11) :1334-1342

[8] Pediatric central nervous system hemangioblastomas: different from adult forms? A retrospective series of 25 cases [J].

Cheng, Jian ;

Liu, Wenke ;

Hui, Xuhui ;

Zhang, Si ;

Ju, Yan .

ACTA NEUROCHIRURGICA, 2017, 159 (09) :1603-1611

[9] Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease [J].

Chiorean, Andreea ;

Farncombe, Kirsten M. ;

Delong, Sean ;

Andric, Veronica ;

Ansar, Safa ;

Chan, Clarissa ;

Clark, Kaitlin ;

Danos, Arpad M. ;

Gao, Yizhuo ;

Giles, Rachel H. ;

Goldenberg, Anna ;

Jani, Payal ;

Krysiak, Kilannin ;

Kujan, Lynzey ;

Macpherson, Samantha ;

Maher, Eamonn R. ;

McCoy, Liam G. ;

Salama, Yasser ;

Saliba, Jason ;

Sheta, Lana ;

Griffith, Malachi ;

Griffith, Obi L. ;

Erdman, Lauren ;

Ramani, Arun ;

Kim, Raymond H. .

HUMAN MUTATION, 2022, 43 (09) :1268-1285

[10] Hemangioblastoma diagnosis and surveillance in von Hippel-Lindau disease: a consensus statement [J].

Huntoon, Kristin ;

Shepard, Matthew J. ;

Lukas, Rimas, V ;

McCutcheon, Ian E. ;

Daniels, Anthony B. ;

Asthagiri, Ashok R. .

JOURNAL OF NEUROSURGERY, 2022, 136 (06) :1511-1516

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