A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma
Von Hippel-Lindau (VHL) disease is a rare inherited cancer predisposition syndrome characterized by benign and malignant tumors in multiple organs, especially cerebellar hemangioblastomas, retinal angiomas, renal-cell carcinoma, and pheochromocytomas. Clinically, VHL disease also presents an increas...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
The Korean Society of Pediatric Hematology-Oncology
2020-04-01
|
Series: | Clinical Pediatric Hematology-Oncology |
Subjects: | |
Online Access: | https://doi.org/10.15264/cpho.2020.27.1.67 |
id |
doaj-e5e3c5d77c8e4f89ac08f3d2e02b035f |
---|---|
record_format |
Article |
spelling |
doaj-e5e3c5d77c8e4f89ac08f3d2e02b035f2020-11-25T02:05:21ZengThe Korean Society of Pediatric Hematology-OncologyClinical Pediatric Hematology-Oncology2233-52502020-04-01271677110.15264/cpho.2020.27.1.67cpho.2020.27.1.67A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary HemangioblastomaYoung Hyun Kim0Hye Lim Jung1Aram Yang2Ji Hee Kwak3Deok Soo Kim4Jung Yeon Shim5Jae Won Shim6Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, KoreaDepartment of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, KoreaDepartment of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, KoreaDepartment of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, KoreaDepartment of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, KoreaDepartment of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, KoreaDepartment of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, KoreaVon Hippel-Lindau (VHL) disease is a rare inherited cancer predisposition syndrome characterized by benign and malignant tumors in multiple organs, especially cerebellar hemangioblastomas, retinal angiomas, renal-cell carcinoma, and pheochromocytomas. Clinically, VHL disease also presents an increased risk for developing multiple visceral cysts in the pancreas, liver, and kidneys. Regular surveillance for VHL disease-associated tumors after early diagnosis is necessary for better outcomes in VHL disease. An 11-year-old girl was admitted with prolonged fever lasting for more than 10 days and cervical lymphadenopathy. She did not have a family history of cysts or malignancy. Initial blood tests showed mild leukopenia and moderate elevation in aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase, but with normal amylase and lipase. Hepatobiliary ultrasonography and magnetic resonance cholangiopancreatography were done and revealed multiple cysts involving the whole pancreas with cyst sizes up to 1.6 cm, indicating VHL disease. Direct sequencing of the VHL gene showed a heterozygous duplication at codon 384 (c.384dup), which is predicted to cause a frameshift of the reading frame (p.Leu129Serfs*3). This was a novel pathogenic variant VHL gene. We carried out the surveillance protocol for VHL disease-associated tumors, and found a hemangioblastoma in the medulla of the brainstem. We are reporting an 11-year-old female patient of VHL disease with brainstem hemangioblastoma who could be suspected and diagnosed of VHL disease in asymptomatic state due to incidentally found multiple pancreatic cysts.https://doi.org/10.15264/cpho.2020.27.1.67von hippel-lindau diseasepancreatic cysthemangioblastoma |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Young Hyun Kim Hye Lim Jung Aram Yang Ji Hee Kwak Deok Soo Kim Jung Yeon Shim Jae Won Shim |
spellingShingle |
Young Hyun Kim Hye Lim Jung Aram Yang Ji Hee Kwak Deok Soo Kim Jung Yeon Shim Jae Won Shim A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma Clinical Pediatric Hematology-Oncology von hippel-lindau disease pancreatic cyst hemangioblastoma |
author_facet |
Young Hyun Kim Hye Lim Jung Aram Yang Ji Hee Kwak Deok Soo Kim Jung Yeon Shim Jae Won Shim |
author_sort |
Young Hyun Kim |
title |
A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma |
title_short |
A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma |
title_full |
A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma |
title_fullStr |
A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma |
title_full_unstemmed |
A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma |
title_sort |
case of von hippel-lindau disease presented with multiple pancreatic cysts and medullary hemangioblastoma |
publisher |
The Korean Society of Pediatric Hematology-Oncology |
series |
Clinical Pediatric Hematology-Oncology |
issn |
2233-5250 |
publishDate |
2020-04-01 |
description |
Von Hippel-Lindau (VHL) disease is a rare inherited cancer predisposition syndrome characterized by benign and malignant tumors in multiple organs, especially cerebellar hemangioblastomas, retinal angiomas, renal-cell carcinoma, and pheochromocytomas. Clinically, VHL disease also presents an increased risk for developing multiple visceral cysts in the pancreas, liver, and kidneys. Regular surveillance for VHL disease-associated tumors after early diagnosis is necessary for better outcomes in VHL disease. An 11-year-old girl was admitted with prolonged fever lasting for more than 10 days and cervical lymphadenopathy. She did not have a family history of cysts or malignancy. Initial blood tests showed mild leukopenia and moderate elevation in aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase, but with normal amylase and lipase. Hepatobiliary ultrasonography and magnetic resonance cholangiopancreatography were done and revealed multiple cysts involving the whole pancreas with cyst sizes up to 1.6 cm, indicating VHL disease. Direct sequencing of the VHL gene showed a heterozygous duplication at codon 384 (c.384dup), which is predicted to cause a frameshift of the reading frame (p.Leu129Serfs*3). This was a novel pathogenic variant VHL gene. We carried out the surveillance protocol for VHL disease-associated tumors, and found a hemangioblastoma in the medulla of the brainstem. We are reporting an 11-year-old female patient of VHL disease with brainstem hemangioblastoma who could be suspected and diagnosed of VHL disease in asymptomatic state due to incidentally found multiple pancreatic cysts. |
topic |
von hippel-lindau disease pancreatic cyst hemangioblastoma |
url |
https://doi.org/10.15264/cpho.2020.27.1.67 |
work_keys_str_mv |
AT younghyunkim acaseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT hyelimjung acaseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT aramyang acaseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT jiheekwak acaseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT deoksookim acaseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT jungyeonshim acaseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT jaewonshim acaseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT younghyunkim caseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT hyelimjung caseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT aramyang caseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT jiheekwak caseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT deoksookim caseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT jungyeonshim caseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma AT jaewonshim caseofvonhippellindaudiseasepresentedwithmultiplepancreaticcystsandmedullaryhemangioblastoma |
_version_ |
1724938522035486720 |