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1.
Journal of Army Medical University ; (semimonthly): 377-383, 2024.
Article de Chinois | WPRIM | ID: wpr-1017572

RÉSUMÉ

Objective To summarize and analyze the clinical phenotypes,hereditary features and treatment and follow-up strategies of different hereditary pheochromocytoma/paragangliomas(PCC/PGL)and related syndromes.Methods Forty-four clinically diagnosed PCC/PGL patients admitted in our hospital from January 2000 to August 2022 were enrolled,and the clinical data of them and their family members were collected.Second-generation sequencing was performed on 43 patients for genetic detection,and Sanger sequencing was applied to verify the mutation of the probands and family members.Results There were 15 patients diagnosed with hereditary PCC/PGL,including 7 cases of von Hippel-Lindau(VHL)syndrome,3 cases of multiple endocrine neoplasia type 2(MEN2),and 5 cases of familial paraganglioma syndrome.Seven VHL syndrome families were diagnosed as VHL2A(c.500G>A),VHL2B(c.239G>T and c.444_457del),and VHL2C(c.293A>G)according to their clinical manifestations.All probands received surgical treatment,and 2 cases of recurrent PCC and the patients with multiple renal cancer also received targeted therapy with sunitinib.Three MEN2 families carried c.1901G>C,c.1832G>A,and c.1901G>A missense mutations,respectively,and were diagnosed with MEN2A clinically.All of them underwent adrenalectomy and thyroidectomy,including one for preventive thyroidectomy.Among the 5 familial paraganglioma syndrome families,4 patients carried SDHB mutations(SDHB:c.343C>T,c.541-2A>G,c.575G>A,c.268C>T)and 1 patient carried an SDHD mutation(SDHD:c.337_340del).Sporadic retroperitoneal PGL were most common.Conclusion More than 1/3 of PCC/PGL patients carry germline gene mutations,showing obvious genotype-phenotype correlation.Genetic diagnosis technology plays an important guidance role for clinical precision treatment and follow-up,and genetic counseling.

2.
Journal of Modern Urology ; (12): 799-804, 2023.
Article de Chinois | WPRIM | ID: wpr-1005997

RÉSUMÉ

【Objective】 To explore the mutation type, clinical characteristics, molecular genetics and the two-hit type of a patient with familial Von Hippel Lindau (VHL) syndrome. 【Methods】 The data of the patient were collected. DNA was extracted from the peripheral blood and renal cell carcinoma sample. The VHL gene germline mutation site was detected with high throughput sequencing next generation sequencing (NGS). The two-hit site was identified with UCSCXena database, methylation-specific PCR (MSP) and microsatellite stability detection. 【Results】 The mutation site of the embryo line was located in c.500G>A R167Q mutation. The patient had single nucleotide polymorphism, but no clear loss of heterozygosity, methylation or system mutation. 【Conclusion】 The germline mutation in exon 3 is the basis for the clinical features of this familial renal cell carcinoma proband. The identification of the two-hit site is key to the occurrence of the disease, which is significant for the diagnosis and treatment. The use of the databases can guide the screening of mutations and methylation sites in familial renal cell carcinoma.

3.
Bol. méd. Hosp. Infant. Méx ; 78(4): 341-345, Jul.-Aug. 2021. graf
Article de Anglais | LILACS-Express | LILACS | ID: biblio-1345422

RÉSUMÉ

Abstract Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies. Case report: We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been previously reported. This case is the second one reported where von Hippel-Lindau disease and familial erythrocytosis type 2 coexist in the same individual. Conclusions: Despite the low frequency of familial erythrocytosis type 2 in patients with von Hippel-Lindau disease, the possibility of this diagnosis should be considered to avoid unnecessary invasive studies to explain the polyglobulia in these patients and guarantee an adequate follow-up and vigilance of both diseases.


Resumen Introducción: Los pacientes con eritrocitosis familiar tipo 2 no muestran un riesgo incrementado de desarrollar tumores asociados con la enfermedad de von Hippel-Lindau, a pesar de que ambas afecciones están causadas por variantes patogénicas en el gen VHL. Caso clínico: Se presenta el caso de un paciente heterocigoto compuesto con enfermedad de von Hippel-Lindau y eritrocitosis familiar tipo 2. Una de las variantes patogénicas en el paciente, VHL c.416C>G (p.Ser139Cys), no ha sido previamente reportada. Este es el segundo reporte de caso en que la enfermedad de von Hippel-Lindau y la eritrocitosis familiar tipo 2 coexisten en el mismo individuo. Conclusiones: A pesar de la baja frecuencia de la eritrocitosis familiar tipo 2 en pacientes con enfermedad de von Hippel-Lindau, la posibilidad del diagnóstico debe considerarse con el fin de evitar estudios invasivos innecesarios para explicar la presencia de poliglobulia en estos pacientes y para garantizar un adecuado seguimiento y una correcta vigilancia de ambas enfermedades.

4.
Article de Chinois | WPRIM | ID: wpr-881396

RÉSUMÉ

@#To investigate the effects of VHL (von Hippel-Lindau) inhibitor on Caenorhabditis elegans (C.elegans) model of Parkinson''s disease (PD),C.elegans were exposed to rotenone and treated with VHL inhibitor VH298.The death,dopaminergic neurodegeneration and mitochondrial unfolded protein response (mito-UPR) of transgenic strains with the markers zcIs9 and otIs181 exposed to different concentrations of rotenone were investigated. The death,dopaminergic neurodegeneration,and changes of behaviors including head thrashes,body bends and foraging behavior of C.elegans model of PD treated with different concentrations of VH298 were explored.The results showed that different concentrations of rotenone can lead to the death,dopaminergic neurodegeneration and abnormal mito-UPR of transgenic nematodes with zcIs9; otIs181,while the VHL inhibitor can decrease the death rate and alleviate dopaminergic neurodegeneration of rotenone-induced C.elegans model of PD.The VHL inhibitor can also attenuate the behavioral abnormalities of head thrashes,body bends and foraging behavior of C.elegans model.These results suggest that rotenone may cause mitochondrial damage in the transgenic nematodes with zcIs9; otIs181, and then destroy mitochondrial homeostasis,thereby resulting in dopaminergic neurodegeneration and death of the nematodes. The VHL inhibitor VH298 may promote the survival of rotenone-induced C.elegans model of PD,and alleviate dopaminergic neurodegeneration,thereby improving the behavioral abnormalities of C.elegans model of PD.

5.
Article | IMSEAR | ID: sea-213053

RÉSUMÉ

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of tumours in the central nervous system (CNS) and other visceral organs. We herein report a case of 35 years aged newly diagnosed diabetic female patient presented with headache, gait instability, loss of vision in both eyes, left sided hearing impairment and subsequently diagnosed to have VHL disease. The pathophysiology involves the inactivation of the VHL tumour suppressor gene. Early recognition and treatment remains the mainstay of management. Even many years after the complete tumour excision, newer neoplasms may develop. Increasing knowledge about the molecular enabled us to investigate the role of anti-angiogenic drugs. Continuous surveillance at regular interval must be conducted in patients with VHL disease.

7.
Article de Chinois | WPRIM | ID: wpr-751996

RÉSUMÉ

Von Hippel-Lindau (VHL) disease is a benign or malignant tumor syndrome which involves multiple systems and organs.Recently,a patient was diagnosed and hospitalized with an initial clinical symptom of pancreatic multiple cystic space-occupying.Multidisciplinary examination and consultation confirmed that there were hemangioblastomas in cerebella,spinal cord and retina,but with no clinical symptoms;therefore,it was diagnosed as VHL disease.According to previous case reports,only a few single cases revealed lesions in so many parts of the central nervous system with typical imaging manifestations.We present an overview and aim to improve the diagnosis of VHL disease with the initial clinical symptom of pancreatic lesions.

8.
Protein & Cell ; (12): 726-744, 2019.
Article de Anglais | WPRIM | ID: wpr-757888

RÉSUMÉ

The primary cilium is a microtubule-based sensory organelle. The molecular mechanism that regulates ciliary dynamics remains elusive. Here, we report an unexpected finding that MLN4924, a small molecule inhibitor of NEDD8-activating enzyme (NAE), blocks primary ciliary formation by inhibiting synthesis/assembly and promoting disassembly. This is mainly mediated by MLN4924-induced phosphorylation of AKT1 at Ser473 under serum-starved, ciliary-promoting conditions. Indeed, pharmaceutical inhibition (by MK2206) or genetic depletion (via siRNA) of AKT1 rescues MLN4924 effect, indicating its causal role. Interestingly, pAKT1-Ser activity regulates both ciliary synthesis/assembly and disassembly in a MLN4924 dependent manner, whereas pAKT-Thr determines the ciliary length in MLN4924-independent but VHL-dependent manner. Finally, MLN4924 inhibits mouse hair regrowth, a process requires ciliogenesis. Collectively, our study demonstrates an unexpected role of a neddylation inhibitor in regulation of ciliogenesis via AKT1, and provides a proof-of-concept for potential utility of MLN4924 in the treatment of human diseases associated with abnormal ciliogenesis.

9.
Protein & Cell ; (12): 395-404, 2019.
Article de Anglais | WPRIM | ID: wpr-757916

RÉSUMÉ

Protein ubiquitination is an important means of post-translational modification which plays an essential role in the regulation of various aspects of leukocyte development and function. The specificity of ubiquitin tagging to a protein substrate is determined by E3 ubiquitin ligases via defined E3-substrate interactions. In this review, we will focus on two E3 ligases, VHL and Itch, to discuss the latest progress in understanding their roles in the differentiation and function of CD4 T helper cell subsets, the stability of regulatory T cells, effector function of CD8 T cells, as well as the development and maturation of innate lymphoid cells. The biological implications of these E3 ubiquitin ligases will be highlighted in the context of normal and dysregulated immune responses including the control of homeostasis, inflammation, auto-immune responses and anti-tumor immunity. Further elucidation of the ubiquitin system in immune cells will help in the design of new therapeutic interventions for human immunological diseases and cancer.

10.
Kosin Medical Journal ; : 446-453, 2018.
Article de Anglais | WPRIM | ID: wpr-739004

RÉSUMÉ

Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4–12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.


Sujet(s)
Humains , Mâle , Adulte d'âge moyen , Néphrocarcinome , Néoplasie endocrinienne multiple , Phéochromocytome , Tumeurs de la thyroïde
11.
Article de Chinois | WPRIM | ID: wpr-620402

RÉSUMÉ

Objective To detect the mutations of Von Hippel-Lindau (VHL) gene via analyzing the prevalence of family members of VHL syndrome,clinical diagnosis and treatment,and gene analysis of patients with hemangioblastoma.methods All members of the VHL syndrome family members improved all relevant tests and plotted the family map.5 ml peripheral blood was extracted for gene sequencing,and the sequencing Result s were compared with the reported mutations of VHL gene in NCBI database.Result s(1)Analysis of clinical data of four members of the family:Ⅰ-2,Ⅱ-1,Ⅱ-5 suffering from central nervous system hemangioblastoma, Ⅱ-3 with pancreatic,retinopathy and pheochromocytoma,and Ⅱ-5 also combined with kidney,pancreatic lesions.The second generation of patients in the family have been treated surgically.(2)Gene sequencing Result s showed that all subjects in the test had the same mutation:exon2 109 sequence ATATCACACTGCCA was deleted and termination codon UGA appeared in exon 502.Conclusion Through the mutations of the VHL syndrome family,it is found that the family mutation type is a new mutation.For patients with central nervous system hemangioblastoma-based should be suspected of the disease and improve the family history survey.Once the diagnosis of familial VHL syndrome patients are confirmed,it is necessary to inform the other members of the family for clinical screening,and carry out genetic testing to reduce the harm of the disease to the greatest extent.

12.
Article de Anglais | IMSEAR | ID: sea-173367

RÉSUMÉ

Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disorder resulting from inactivation of tumor suppression genes located at the chromosome 3p 25.5. VHL comprises of many benign and malignant tumors along affecting various systems of the body with variable manifestations. A wide variation in radiological spectrum is seen as per the involvement of particular system or organ. The imaging modalities like Ultrasonogrphy (USG), Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI) play an important role in diagnosing and treating the affected individuals. These also play equally important role in the screening and follow up of such cases. We present a case of an 18 year old female, who was diagnosed with VHL at the age of 10 years, where imaging modalities helped her management and follow up.

13.
Basic & Clinical Medicine ; (12): 1219-1222, 2015.
Article de Chinois | WPRIM | ID: wpr-481994

RÉSUMÉ

Objective To compare the experience of perioperative management and anesthesia in VHL syndrome and non-VHL patients undergoing pheochromocytoma resection .Methods 50 patients scheduled for surgical removal of pheochromocytoma in PUMC Hospital from 2009-01-01 to 2014-12-31 were included in this retrospective analysis . Among them,12 patients were diagnosed with VHL syndrome ,others were non-VLH patients.We focused on the clini-cal records , especially clinical manifestation , preoperative preparation , intraoperative anesthetic management , opera-tion duration and postoperative hospital stay .Results Comparing with non-VHL patients , VHL syndrome patients undergoing pheochromocytoma resection surgery were much younger , with multiple pheochromocytoma and a signifi-cantly increased norepinephrine release .The drug preparation period was much longer , as well as the operative time and hospital stay (P<0.05).But no statistical difference existed in the intraoperative hemodynamic fluctuation and the outcomes of the patients .Conclusions VHL syndrome patients mainly present with multiple pheochromocytoma which has more aggressive function .Since the long operation duration and high risk , the optimization of perioperative management and adequate drug preparation are the key factors to ensure the operation safety .

14.
Ciênc. Saúde Colet. (Impr.) ; Ciênc. Saúde Colet. (Impr.);19(9): 3775-3790, set. 2014. tab, graf
Article de Portugais | LILACS, Redbvs | ID: lil-720583

RÉSUMÉ

Dentre as bases especializadas da Biblioteca Virtual em Saúde (BVS), a sobre "Desastres" indica a importância do tema para a área da saúde. O objetivo deste artigo foi identificar o perfil das publicações técnico-científicas desta base especializada. A partir de buscas sistemáticas e da análise dos resultados foi possível determinar: o tipo de publicação, os principais assuntos abordados, os tipos de desastres mais frequentes nas publicações, os países e as regiões como assunto, período histórico com mais publicações e a tendência atual das publicações. Ao explorar detalhadamente a base especializada, percebe-se que o número de assuntos principais é elevado, característica que dificulta buscas específicas dentro dela. Por outro lado, é positivo o fato de o tema desastre ser tratado de forma ampla e diversificada, associado a diferentes assuntos das ciências naturais e das ciências sociais. O tema desastre exige produção de conhecimento interdisciplinar para reduzir os impactos dos desastres e para gestão dos riscos. Deste modo, a saúde, por se tratar de uma área interdisciplinar, pode contribuir para tal produção.


In the specialized database of the Virtual Health Library (VHL), the DISASTER database highlights the importance of the theme for the health sector. The scope of this article is to identify the profiles of technical and scientific publications in the specialized database. Based on systematic searches and the analysis of results it is possible to determine: the type of publication; the main topics addressed; the most common type of disasters mentioned in published materials, countries and regions as subjects, historic periods with the most publications and the current trend of publications. When examining the specialized data in detail, it soon becomes clear that the number of major topics is very high, making a specific search process in this database a challenging exercise. On the other hand, it is encouraging that the disaster topic is discussed and assessed in a broad and diversified manner, associated with different aspects of the natural and social sciences. The disaster issue requires the production of interdisciplinary knowledge development to reduce the impacts of disasters and for risk management. In this way, since the health sector is a interdisciplinary area, it can contribute to knowledge production.


Sujet(s)
Humains , Bases de données factuelles , Prestations des soins de santé , Catastrophes , Bibliothèques numériques , Édition/statistiques et données numériques
15.
Article de Chinois | WPRIM | ID: wpr-454323

RÉSUMÉ

To determine the effects of Von Hippel-Lindau (VHL) on the invasion and migration of glioma U251 cells. Methods:U251 GBM cells were transfected using VHL expression plasmid. Real-time polymerase chain reaction was conducted to de-tect VHL mRNA expression after transfection. Western blot assay was used to measure protein (VHL, MMP-2, and MMP-9) expres-sion. Tumor invasion and migration were examined by the Transwell and wound-healing experimental methods after VHL up-regula-tion. The intracranial model of nude mouse was developed using U251 cells transfected by VHL expression plasmid, and immunohisto-chemical staining was used to measure protein (VHL, MMP-2, and MMP-9) expression in the tissue sections. Results: In the U251 cells transfected by VHL expression plasmid, the expression of VHL mRNA and VHL proteins increased, and the expression of MMP-2 and MMP-9 protein decreased. Meanwhile, the invasion and migration of glioma U251 cells were also inhibited. Immunohistochemical staining results showed that the expression of MMP-2 and MMP-9 proteins decreased, and the VHL protein expression increased after transfection. Conclusion:VHL can inhibit the invasion and migration of glioma U251 cells. Thus, VHL gene can be used as a target for the gene therapy of gliomas.

16.
Article de Anglais | WPRIM | ID: wpr-141178

RÉSUMÉ

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus. METHODS: A 30-year-old woman presented with gestational diabetes mellitus. She sequentially showed multiple pancreatic cysts, spinal cord hemangioblastoma, cerebellar hemangioblastoma, and clear cell type renal cell carcinomas. Also, her father and brother had brain hemangioblastomas. Each of the three exons of the VHL gene was individually amplified by polymerase chain reaction and direct sequencing was performed using an ABI 3730 DNA analyzer. RESULTS: DNA sequence analysis to determine the presence of VHL mutation in her family revealed del291C, a novel frameshift mutation. CONCLUSION: We found a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.


Sujet(s)
Adulte , Femelle , Humains , Grossesse , Encéphale , Néphrocarcinome , Diabète gestationnel , ADN , Exons , Pères , Gènes suppresseurs de tumeur , Hémangioblastome , Kyste du pancréas , Réaction de polymérisation en chaîne , Analyse de séquence d'ADN , Fratrie , Moelle spinale , Maladie de von Hippel-Lindau
17.
Article de Anglais | WPRIM | ID: wpr-141179

RÉSUMÉ

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus. METHODS: A 30-year-old woman presented with gestational diabetes mellitus. She sequentially showed multiple pancreatic cysts, spinal cord hemangioblastoma, cerebellar hemangioblastoma, and clear cell type renal cell carcinomas. Also, her father and brother had brain hemangioblastomas. Each of the three exons of the VHL gene was individually amplified by polymerase chain reaction and direct sequencing was performed using an ABI 3730 DNA analyzer. RESULTS: DNA sequence analysis to determine the presence of VHL mutation in her family revealed del291C, a novel frameshift mutation. CONCLUSION: We found a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.


Sujet(s)
Adulte , Femelle , Humains , Grossesse , Encéphale , Néphrocarcinome , Diabète gestationnel , ADN , Exons , Pères , Gènes suppresseurs de tumeur , Hémangioblastome , Kyste du pancréas , Réaction de polymérisation en chaîne , Analyse de séquence d'ADN , Fratrie , Moelle spinale , Maladie de von Hippel-Lindau
18.
Article de Anglais | WPRIM | ID: wpr-112921

RÉSUMÉ

von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the development of tumors in the eye, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis, associated with germline mutations in the VHL gene. We used sequentially sequencing method and multiple ligation-dependent probe amplification (MLPA) analysis and detected germline mutations in the VHL in 15/15 (100%) of VHL patients fulfilling the clinical criteria. Of the 15 distinct mutations detected, large deletions were detected in 5/15 (33.3%) patients, including 4/15 (26.7%) partial deletions and 1/15 (6.6%) deletion of the entire VHL gene by MLPA and the remainder were point mutations detected by sequencing method, of which five mutations were novel. Using MLPA analysis, we detected large deletions including both partial deletions and complete gene deletion, which has not been reported in Korean VHL patients. In conclusion, sequential application of sequencing method and MLPA analysis might make possible to identify germline mutations in most patients with VHL.


Sujet(s)
Adolescent , Adulte , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte , Asiatiques/génétique , Analyse de mutations d'ADN/méthodes , Délétion de gène , Prédisposition génétique à une maladie , Mutation germinale , Corée , Techniques d'amplification d'acides nucléiques , Phénotype , Polymorphisme de nucléotide simple , Analyse de séquence , Maladie de von Hippel-Lindau/diagnostic
19.
Exp. mol. med ; Exp. mol. med;: 71-83, 2008.
Article de Anglais | WPRIM | ID: wpr-77112

RÉSUMÉ

In this study, we investigated the role of Nur77, an orphan nuclear receptor, in HIF-alpha transcriptional activity. We found that Nur77 associates and stabilizes HIF-1alpha via indirect interaction. Nur77 was found to interact with pVHL in vivo via the alpha-domain of pVHL. By binding to pVHL, Nur77 competed with elongin C for pVHL binding. Moreover, Nur77-binding to pVHL inhibited the pVHL-mediated ubiquitination of HIF-1alpha and ultimately increased the stability and transcriptional activity of HIF-1alpha. The ligand-binding domain of Nur77 was found to interact with pVHL and the expression of this ligand-binding domain was sufficient to stabilize and transactivate HIF-1alpha. Under the conditions that cobalt chloride was treated or pVHL was knocked down, Nur77 could not stabilize HIF-alpha. Moreover, Nur77 could not further stabilize HIF-2alpha in A498/VHL stable cells, which is consistent with our finding that Nur77 indirectly stabilizes HIF-alpha by binding to pVHL. Thus, our results suggest that an orphan nuclear receptor Nur77 binds to pVHL, thereby stabilizes and increases HIF-alpha transcriptional activity under the non- hypoxic conditions.


Sujet(s)
Animaux , Humains , Rats , Protéines de liaison à l'ADN/composition chimique , Sous-unité alpha du facteur-1 induit par l'hypoxie/génétique , Modèles biologiques , Cellules PC12 , Liaison aux protéines , Maturation post-traductionnelle des protéines , Structure tertiaire des protéines , Récepteurs cytoplasmiques et nucléaires/composition chimique , Récepteurs aux stéroïdes/composition chimique , Thermodynamique , Facteurs de transcription/composition chimique , Activation de la transcription/génétique , Ubiquitination , Régulation positive/génétique , Protéine Von Hippel-Lindau supresseur de tumeur/antagonistes et inhibiteurs
20.
Article de Coréen | WPRIM | ID: wpr-58685

RÉSUMÉ

Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome that result from a germline mutation in the VHL gene. Germline mutation in the VHL gene lead to the development of hemangioblastomas of the central nervous system and retina, cysts and clear cell carcinoma of the kidney, cyst adenomas of other organs, and pheochromocytoma. VHL is a tumor suppressor gene on the short arm of chromosome 3. VHL disease has been classified into two main clinical subtypes depending on the presence (type 2) or absence (type 1) of pheochromocytoma. Type 2 has been subdivided into three categories depending on the presence (type 2B) or absence (type 2A) of renal cell carcinoma, with type 2C being a rare subtype in which pheochromocytoma is the sole manifestation of VHL disease. Recently we experienced a family with VHL type 1 who carry C to T (Q73X) transition in codon 217 nonsense germline mutation in exon 1 of VHL gene. The authors report this case with literature review.


Sujet(s)
Humains , Adénomes , Bras , Néphrocarcinome , Système nerveux central , Chromosomes humains de la paire 3 , Codon , Exons , Gènes suppresseurs de tumeur , Mutation germinale , Hémangioblastome , Rein , Phéochromocytome , Rétine , Maladie de von Hippel-Lindau
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