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Von Hippel-Lindau syndrome(VHL)

MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Synonyms: VHL; VHL syndrome; Von Hippel-Lindau Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: von Hippel-Lindau syndrome (46659004); VHL - von Hippel-Lindau syndrome (46659004); Lindau's disease (46659004); Von Hippel-Lindau syndrome (46659004); Familial cerebello-retinal angiomatosis (46659004); Lindau' disease (46659004); Cerebroretinal angiomatosis (46659004)
 
Genes (locations): CCND1 (11q13.3); VHL (3p25.3)
OMIM®: 193300
Orphanet: ORPHA892

Disease characteristics

Excerpted from the GeneReview: Von Hippel-Lindau Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Carlijn Frantzen  |  Timothy D Klasson  |  Thera P Links, et. al.   view full author information

Additional descriptions

From OMIM
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10; 611183) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B. Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.  http://www.omim.org/entry/193300
From GHR
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life. Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss. People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor. Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous if they develop during pregnancy. About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.  http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome

Clinical features

Pulmonary capillary hemangiomatosis
MedGen UID:
348097
Concept ID:
C1860397
Finding
Pheochromocytoma
MedGen UID:
505323
Concept ID:
CN002423
Finding
Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Paraganglioma
MedGen UID:
505325
Concept ID:
CN002425
Finding
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
Neoplasm of the pancreas
MedGen UID:
425115
Concept ID:
CN002617
Finding
A tumor (abnormal growth of tissue) of the pancreas.
Renal cell carcinoma
MedGen UID:
505836
Concept ID:
CN004944
Finding
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Cerebellar hemangioblastoma
MedGen UID:
505995
Concept ID:
CN005996
Finding
A 'hemangioblastoma of the cerebellum.
Retinal capillary hemangioma
MedGen UID:
506299
Concept ID:
CN008571
Finding
A benign vascular tumor of the retina without any neoplastic characteristics.
Spinal hemangioblastoma
MedGen UID:
447115
Concept ID:
CN008573
Finding
A 'hemangioblastoma of the spinal cord.
Papillary cystadenoma of the epididymis
MedGen UID:
429433
Concept ID:
CN008575
Finding
A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.
Renal neoplasm
MedGen UID:
506302
Concept ID:
CN008586
Finding
The presence of a neoplasm of the kidney.
Neuroendocrine neoplasm
MedGen UID:
451923
Concept ID:
CN117526
Finding
Visceral angiomatosis
MedGen UID:
452001
Concept ID:
CN117651
Finding
Neoplasm of the middle ear
MedGen UID:
452023
Concept ID:
CN117689
Finding
A tumor (abnormal growth of tissue) of the middle ear.
Multicystic kidney dysplasia
MedGen UID:
504299
Concept ID:
CN000004
Finding
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Polycystic kidney dysplasia
MedGen UID:
427793
Concept ID:
CN000111
Finding
The presence of multiple cysts in both kidneys.
Multiple renal cysts
MedGen UID:
505831
Concept ID:
CN004924
Finding
The presence of many cysts in the kidney.
Renal cell carcinoma
MedGen UID:
505836
Concept ID:
CN004944
Finding
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Papillary cystadenoma of the epididymis
MedGen UID:
429433
Concept ID:
CN008575
Finding
A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.
Renal neoplasm
MedGen UID:
506302
Concept ID:
CN008586
Finding
The presence of a neoplasm of the kidney.
Epididymal cyst
MedGen UID:
850944
Concept ID:
CN231294
Finding
A smooth, extratesticular, spherical cyst in the head of the epididymis.
Retinal capillary hemangioma
MedGen UID:
506299
Concept ID:
CN008571
Finding
A benign vascular tumor of the retina without any neoplastic characteristics.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Retinal detachment
MedGen UID:
368440
Concept ID:
C1963229
Finding
Abnormality of the macula
MedGen UID:
446392
Concept ID:
CN001036
Finding
An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina.
Abnormality of the retinal vasculature
MedGen UID:
446889
Concept ID:
CN007073
Finding
An arterial or venous retinal vascular anomaly.
Retinal capillary hemangioma
MedGen UID:
506299
Concept ID:
CN008571
Finding
A benign vascular tumor of the retina without any neoplastic characteristics.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Finding
Tinnitus is often described as a ringing in the ears. It also can sound like roaring, clicking, hissing, or buzzing. It may be soft or loud, high pitched or low pitched. You might hear it in either one or both ears. Millions of Americans have tinnitus. People with severe tinnitus may have trouble hearing, working or even sleeping. Causes of tinnitus include. -Hearing loss in older people. -Exposure to loud noises. -Ear and sinus infections. -Heart or blood vessel problems. -Meniere's disease. -Brain tumors. -Hormonal changes in women. -Thyroid problems. -Certain medicines. Treatment depends on the cause. Treatments may include hearing aids, sound-masking devices, medicines, and ways to learn how to cope with the noise. NIH: National Institute on Deafness and Other Communication Disorders .
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Vertigo
MedGen UID:
500924
Concept ID:
CN002108
Finding
An abnormal sensation of spinning while the body is actually stationary.
Neoplasm of the middle ear
MedGen UID:
452023
Concept ID:
CN117689
Finding
A tumor (abnormal growth of tissue) of the middle ear.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Sign or Symptom
A finding referring to walking difficulties.
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Hydrocephalus
MedGen UID:
369747
Concept ID:
C1963137
Finding
Increased intracranial pressure
MedGen UID:
776585
Concept ID:
C2364324
Finding
Migraine
MedGen UID:
505085
Concept ID:
CN001878
Finding
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Pheochromocytoma
MedGen UID:
505323
Concept ID:
CN002423
Finding
Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Paraganglioma
MedGen UID:
505325
Concept ID:
CN002425
Finding
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
Hemiplegia/hemiparesis
MedGen UID:
446595
Concept ID:
CN003873
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Cerebellar hemangioblastoma
MedGen UID:
505995
Concept ID:
CN005996
Finding
A 'hemangioblastoma of the cerebellum.
Aplasia/Hypoplasia of the cerebellum
MedGen UID:
429099
Concept ID:
CN006441
Finding
Retinal capillary hemangioma
MedGen UID:
506299
Concept ID:
CN008571
Finding
A benign vascular tumor of the retina without any neoplastic characteristics.
Spinal hemangioblastoma
MedGen UID:
447115
Concept ID:
CN008573
Finding
A 'hemangioblastoma of the spinal cord.
Neuroendocrine neoplasm
MedGen UID:
451923
Concept ID:
CN117526
Finding
Abnormality of the cerebral vasculature
MedGen UID:
451940
Concept ID:
CN117551
Finding
Pheochromocytoma
MedGen UID:
505323
Concept ID:
CN002423
Finding
Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Paraganglioma
MedGen UID:
505325
Concept ID:
CN002425
Finding
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
Neuroendocrine neoplasm
MedGen UID:
451923
Concept ID:
CN117526
Finding
Pancreatic cysts
MedGen UID:
348096
Concept ID:
C1860394
Finding
Abnormality of the liver
MedGen UID:
428258
Concept ID:
CN001274
Finding
An abnormality of the liver.
Nausea and vomiting
MedGen UID:
505054
Concept ID:
CN001825
Finding
Neoplasm of the pancreas
MedGen UID:
425115
Concept ID:
CN002617
Finding
A tumor (abnormal growth of tissue) of the pancreas.
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise.
Pulmonary capillary hemangiomatosis
MedGen UID:
348097
Concept ID:
C1860397
Finding
Retinal capillary hemangioma
MedGen UID:
506299
Concept ID:
CN008571
Finding
A benign vascular tumor of the retina without any neoplastic characteristics.
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Visceral angiomatosis
MedGen UID:
452001
Concept ID:
CN117651
Finding
Arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Pathologic Function
An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. . Symptoms of arrhythmias include. -Fast or slow heart beat. -Skipping beats. -Lightheadedness or dizziness. -Chest pain. -Shortness of breath . -Sweating . Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. . NIH: National Heart, Lung, and Blood Institute.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Pulmonary capillary hemangiomatosis
MedGen UID:
348097
Concept ID:
C1860397
Finding
Abnormality of the retinal vasculature
MedGen UID:
446889
Concept ID:
CN007073
Finding
An arterial or venous retinal vascular anomaly.
Retinal capillary hemangioma
MedGen UID:
506299
Concept ID:
CN008571
Finding
A benign vascular tumor of the retina without any neoplastic characteristics.
Arteriovenous malformation
MedGen UID:
451420
Concept ID:
CN116925
Finding
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Abnormality of the cerebral vasculature
MedGen UID:
451940
Concept ID:
CN117551
Finding
Hypertensive crisis
MedGen UID:
506528
Concept ID:
CN117626
Finding
Visceral angiomatosis
MedGen UID:
452001
Concept ID:
CN117651
Finding
Polycythemia
MedGen UID:
504995
Concept ID:
CN001719
Finding
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
Pulmonary capillary hemangiomatosis
MedGen UID:
348097
Concept ID:
C1860397
Finding
Abnormality of the lymphatic system
MedGen UID:
452002
Concept ID:
CN117653
Finding
An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVon Hippel-Lindau syndrome
Follow this link to review classifications for Von Hippel-Lindau syndrome in Orphanet.

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. [Epub ahead of print] PMID: 25394175
ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada
Can Urol Assoc J 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496. PMID: 24319509Free PMC Article
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV, Pacak K; North American Neuroendocrine Tumor Society (NANETS)
Pancreas 2010 Aug;39(6):775-83. doi: 10.1097/MPA.0b013e3181ebb4f0. PMID: 20664475Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628

Recent clinical studies

Etiology

Weisbrod AB, Kitano M, Thomas F, Williams D, Gulati N, Gesuwan K, Liu Y, Venzon D, Turkbey I, Choyke P, Yao J, Libutti SK, Nilubol N, Linehan WM, Kebebew E
J Am Coll Surg 2014 Feb;218(2):163-9. Epub 2013 Nov 12 doi: 10.1016/j.jamcollsurg.2013.10.025. [Epub ahead of print] PMID: 24440063Free PMC Article
O' Brien FJ, Danapal M, Jairam S, Lalani AK, Cunningham J, Morrin M, McNally S, Donovan MG, Little D, Tuthill A, Conlon PJ
QJM 2014 Apr;107(4):291-6. Epub 2013 Dec 17 doi: 10.1093/qjmed/hct249. [Epub ahead of print] PMID: 24352051
Volkin D, Yerram N, Ahmed F, Lankford D, Baccala A, Gupta GN, Hoang A, Nix J, Metwalli AR, Lang DM, Bratslavsky G, Linehan WM, Pinto PA
J Pediatr Surg 2012 Nov;47(11):2077-82. doi: 10.1016/j.jpedsurg.2012.07.003. PMID: 23164001Free PMC Article
Weisbrod AB, Liewehr DJ, Steinberg SM, Patterson EE, Libutti SK, Linehan WM, Nilubol N, Kebebew E
Ann Surg Oncol 2012 Jun;19(6):2054-9. Epub 2012 Feb 16 doi: 10.1245/s10434-012-2276-8. [Epub ahead of print] PMID: 22350603
Benhammou JN, Boris RS, Pacak K, Pinto PA, Linehan WM, Bratslavsky G
J Urol 2010 Nov;184(5):1855-9. Epub 2010 Sep 17 doi: 10.1016/j.juro.2010.06.102. [Epub ahead of print] PMID: 20846682Free PMC Article

Diagnosis

Fu XM, Zhao SL, Gui JC, Jiang YQ, Shen MN, Su DL, Gu BJ, Wang XQ, Ren QJ, Yin XD, Huang WB, Chen XG
Genet Mol Res 2015 May 4;14(2):4513-20. doi: 10.4238/2015.May.4.9. PMID: 25966224
Scalise A, Tartaglione C, Pierangeli M, Bolletta E, Fraccalvieri M, Grassetti L, Ottonello M, Nicoletti G, Massone A, Di Benedetto G
Spinal Cord 2014 Nov;52 Suppl 3:S1-3. doi: 10.1038/sc.2014.111. PMID: 25376307
Mukherjee A, Karunanithi S, Bal C, Kumar R
Clin Nucl Med 2014 Oct;39(10):920-1. doi: 10.1097/RLU.0000000000000486. PMID: 24999687
Takahashi T, Nogimura H, Kuriki K, Kobayashi R
World J Surg Oncol 2014 Mar 29;12:74. doi: 10.1186/1477-7819-12-74. [Epub ahead of print] PMID: 24678933Free PMC Article
Weisbrod AB, Kitano M, Thomas F, Williams D, Gulati N, Gesuwan K, Liu Y, Venzon D, Turkbey I, Choyke P, Yao J, Libutti SK, Nilubol N, Linehan WM, Kebebew E
J Am Coll Surg 2014 Feb;218(2):163-9. Epub 2013 Nov 12 doi: 10.1016/j.jamcollsurg.2013.10.025. [Epub ahead of print] PMID: 24440063Free PMC Article

Therapy

Chen Y, Liu H, Zhang K, Gao L
Photodiagnosis Photodyn Ther 2014 Jun;11(2):250-3. Epub 2014 Mar 13 doi: 10.1016/j.pdpdt.2014.02.013. [Epub ahead of print] PMID: 24632330
Volkin D, Yerram N, Ahmed F, Lankford D, Baccala A, Gupta GN, Hoang A, Nix J, Metwalli AR, Lang DM, Bratslavsky G, Linehan WM, Pinto PA
J Pediatr Surg 2012 Nov;47(11):2077-82. doi: 10.1016/j.jpedsurg.2012.07.003. PMID: 23164001Free PMC Article
Aiello LP, George DJ, Cahill MT, Wong JS, Cavallerano J, Hannah AL, Kaelin WG Jr
Ophthalmology 2002 Sep;109(9):1745-51. PMID: 12208726
Bender BU, Gutsche M, Gläsker S, Müller B, Kirste G, Eng C, Neumann HP
J Clin Endocrinol Metab 2000 Dec;85(12):4568-74. doi: 10.1210/jcem.85.12.7015. PMID: 11134110
Thompson RK, Peters JI, Sirinek KR, Levine BA
Surgery 1989 May;105(5):598-604. PMID: 2650004

Prognosis

Takahashi T, Nogimura H, Kuriki K, Kobayashi R
World J Surg Oncol 2014 Mar 29;12:74. doi: 10.1186/1477-7819-12-74. [Epub ahead of print] PMID: 24678933Free PMC Article
Weisbrod AB, Kitano M, Thomas F, Williams D, Gulati N, Gesuwan K, Liu Y, Venzon D, Turkbey I, Choyke P, Yao J, Libutti SK, Nilubol N, Linehan WM, Kebebew E
J Am Coll Surg 2014 Feb;218(2):163-9. Epub 2013 Nov 12 doi: 10.1016/j.jamcollsurg.2013.10.025. [Epub ahead of print] PMID: 24440063Free PMC Article
Volkin D, Yerram N, Ahmed F, Lankford D, Baccala A, Gupta GN, Hoang A, Nix J, Metwalli AR, Lang DM, Bratslavsky G, Linehan WM, Pinto PA
J Pediatr Surg 2012 Nov;47(11):2077-82. doi: 10.1016/j.jpedsurg.2012.07.003. PMID: 23164001Free PMC Article
Weisbrod AB, Liewehr DJ, Steinberg SM, Patterson EE, Libutti SK, Linehan WM, Nilubol N, Kebebew E
Ann Surg Oncol 2012 Jun;19(6):2054-9. Epub 2012 Feb 16 doi: 10.1245/s10434-012-2276-8. [Epub ahead of print] PMID: 22350603
Benhammou JN, Boris RS, Pacak K, Pinto PA, Linehan WM, Bratslavsky G
J Urol 2010 Nov;184(5):1855-9. Epub 2010 Sep 17 doi: 10.1016/j.juro.2010.06.102. [Epub ahead of print] PMID: 20846682Free PMC Article

Clinical prediction guides

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