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1.
Transl Vis Sci Technol ; 13(7): 8, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38980260

RESUMO

Purpose: To describe optical coherence tomography angiography (OCTA)-guided navigated laser photocoagulation (LP) using the Navilas Laser System for treating retinal hemangioblastomas (RHs) associated with von Hippel-Lindau disease (VHLD). Methods: Patients with VHLD were screened using ophthalmoscopy and widefield OCTA. Detected RHs were classified with regard to tumor morphology (endophytic, sessile, exophytic, recurrent) and size. Then, 6 × 6- or 3 × 3-mm2 en face OCTA scans of the RHs were uploaded to the Navilas system, generating a merged image combining the scan and Navilas fundus photography. LP was planned by placing laser spots in the OCTA scan and executed with the Navilas system. Treatment efficacy was assessed by conducting OCTA scans immediately after LP and at follow-up visits. Results: Fifteen RHs were detected in 10 patients (median, one RH; range, one to four). Twelve RHs were treatment naive (exophytic [3], sessile [3], and endophytic [6]), and there were three recurrent RHs in pretreated areas. Total applied energy per tumor correlated with tumor size (P < 0.001). After a mean first follow-up of 3.6 ± 1.5 months (range, 0.9-5.3), nine RHs exhibited complete regression (60%), five partial regression (33.3%), and one no regression (6.7%). No correlation between tumor morphology and treatment success was observed (P = 0.32). However, a correlation between treatment success and tumor size trended toward significance (P = 0.08), with a 100% success rate observed for small RHs. Conclusions: OCTA-guided LP via the Navilas Laser System is a promising technique, especially beneficial for targeting small RHs. Combining OCTA and ophthalmoscopy improves tumor detection, underscoring the utility of this approach. Translational Relevance: OCTA-guided LP enables highly precise and safe treatment of early-stage RHs, minimizing possible complications caused by LP or the tumor itself.


Assuntos
Hemangioblastoma , Fotocoagulação a Laser , Neoplasias da Retina , Tomografia de Coerência Óptica , Doença de von Hippel-Lindau , Humanos , Hemangioblastoma/cirurgia , Hemangioblastoma/diagnóstico por imagem , Masculino , Feminino , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/cirurgia , Fotocoagulação a Laser/métodos , Adulto , Tomografia de Coerência Óptica/métodos , Neoplasias da Retina/cirurgia , Neoplasias da Retina/diagnóstico por imagem , Neoplasias da Retina/patologia , Pessoa de Meia-Idade , Angiofluoresceinografia/métodos , Adulto Jovem , Resultado do Tratamento , Cirurgia Assistida por Computador/métodos
2.
Rev Esp Patol ; 57(3): 160-168, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38971615

RESUMO

INTRODUCTION: Hemangioblastoma (HB) is a benign tumor of the central nervous system, associated with von Hippel-Lindau disease (VHL), or sporadic. The aim of this study was to compare and examine the clinical-pathological profile of patients with spinal hemangioblastoma and YAP expression. METHODS: A retrospective, descriptive, comparative study. All patients who underwent surgery for spinal HB between 2016 and 2023 were included. Clinical and radiological data were collected and analyzed. An immunohistochemistry panel including NeuN, neurofilaments (NF), and YAP-1, was performed. RESULTS: Nine patients were studied, six women and three men. Four patients had previously diagnosed VHL. The tumor location included: four cervical (44.44%), two thoracic (22.22%), two pontine with cervical extension (22.22%) and one patient with two lesions, one cervical and one thoracic (11.11%). Non-significant clinical differences were identified between VHL and sporadic patients. Imaging evidenced seven extramedullary and three intramedullary tumors. Histologically, intra-tumoral and perivascular axonal tracts were observed in all cases. One third of the tumors (two with VHL and one sporadic) presented extramedullary hematopoiesis. Seven cases (77.8%) expressed nuclear YAP (three with VHL and four sporadic HBs). The surgical outcome was good and only one patient with VHL undergoing subtotal resection had recurrence. CONCLUSIONS: Spinal HBs can be associated with VHL or be sporadic. To the best of our knowledge, this is the first study to describe YAP expression in HB. It is important to investigate the involvement of the Hippo pathway in HBs as a possible therapeutic target.


Assuntos
Hemangioblastoma , Fatores de Transcrição , Proteínas de Sinalização YAP , Doença de von Hippel-Lindau , Humanos , Hemangioblastoma/patologia , Hemangioblastoma/química , Feminino , Masculino , Estudos Retrospectivos , Adulto , Pessoa de Meia-Idade , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/patologia , Fatores de Transcrição/análise , Neoplasias da Medula Espinal/patologia , Neoplasias da Medula Espinal/química , Neoplasias da Medula Espinal/cirurgia , Proteínas Adaptadoras de Transdução de Sinal/análise , Adulto Jovem , Idoso , Neoplasias da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/química
3.
Blood Press ; 33(1): 2355268, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38824681

RESUMO

INTRODUCTION: Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the VHL tumour suppressor gene. In this study, we introduce a novel genetic variant found in 11 family members diagnosed initially with isolated Pheochromocytoma. Subsequent findings revealed its association with VHL syndrome and corresponds to the Type 2 C phenotype. METHODS: The VHL gene was amplified through the utilisation of the polymerase chain reaction (PCR). PCR fragments were sequenced using bidirectional Sanger sequencing, using BigDye™ Terminator v3.1 Cycle Sequencing Kit, running on the 3500 genetic analyser. Results were assembled and analysed Using Software SeqA and chromas pro. RESULTS: A heterozygous in-frame duplication of three nucleotides, specifically ATG, c.377_379dup; p.Asp126dup in exon 2, was identified in all the patients tested within the pedigree. CONCLUSION: In this study, we disclose the identification of a novel genetic variant in a Jordanian family, affecting eleven family members with pheochromocytoma associated with VHL disease. This finding underscores the importance of screening family members and contemplating genetic testing for individuals newly diagnosed with pheochromocytoma and could enhance our comprehension of the potential adverse consequences associated with VHL germline mutations.


Goal: To study a novel gene change in a family with Von Hippel-Lindau (e.g. VHL) syndrome, which increases cancer chances.Participants: 11 family members with Pheochromocytoma, a tumour linked to VHL.Methods:Used PCR to copy the VHL gene.Analysed the gene using Sanger sequencing.Findings:Found a novel gene change in all family members. This change, called an in-frame duplication, affects a protein.It's in a specific part of the gene.Conclusion:Stressing the importance of genetic testing for Pheochromocytoma patients to grasp VHL mutation risks.


Assuntos
Neoplasias das Glândulas Suprarrenais , Linhagem , Fenótipo , Feocromocitoma , Proteína Supressora de Tumor Von Hippel-Lindau , Doença de von Hippel-Lindau , Humanos , Feocromocitoma/genética , Doença de von Hippel-Lindau/genética , Feminino , Masculino , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Adulto , Neoplasias das Glândulas Suprarrenais/genética , Pessoa de Meia-Idade , Variação Genética
4.
Arch Endocrinol Metab ; 68: e230181, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38788146

RESUMO

Hemangioblastomas associated with von Hippel-Lindau (VHL) disease are frequently multiple and recur during prolonged follow-up. Currently, no systemic treatment is available for these tumors. Recent studies have shown the expression of somatostatin receptors in these types of hemangioblastomas. Notably, increased somatostatin receptor expression in a tumor, as determined by peptide-receptor radionuclide imaging, is a predictive factor of response to treatment with somatostatin analogs and peptide-receptor radionuclide therapy. The aim of this study was to describe the case of a patient with increased expression of somatostatin receptors in a suprasellar hemangioblastoma associated with VHL disease and conduct a literature review on somatostatin receptor expression in patients with VHL-associated hemangioblastomas. We describe herein the case of a 51-year-old man with VHL disease who had a suprasellar hemangioblastoma detected on magnetic resonance imaging. Peptide-receptor radionuclide imaging using gallium-68-DOTATOC (68Ga-DOTATOC) identified increased expression of somatostatin receptors in the suprasellar hemangioblastoma, along with multiple pancreatic neuroendocrine tumors and bilateral pheochromocytomas. The patient was treated for 1 year with lanreotide, a somatostatin analog. A repeat 68Ga-DOTATOC 1 year after starting lanreotide revealed decreased radiotracer uptake by the hemangioblastoma, consistent with a metabolic response. The presence of somatostatin receptors in hemangioblastomas associated with VHL disease is a novel finding. The decreased expression of these receptors after treatment with a somatostatin analog, as described in the present case, positions the somatostatin receptor as a new target for novel diagnostic, therapeutic, and follow-up opportunities in patients with VHL disease.


Assuntos
Hemangioblastoma , Receptores de Somatostatina , Doença de von Hippel-Lindau , Humanos , Hemangioblastoma/diagnóstico por imagem , Doença de von Hippel-Lindau/complicações , Receptores de Somatostatina/análise , Receptores de Somatostatina/metabolismo , Masculino , Pessoa de Meia-Idade , Octreotida/uso terapêutico , Octreotida/análogos & derivados , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/tratamento farmacológico , Seguimentos , Imageamento por Ressonância Magnética , Compostos Radiofarmacêuticos/uso terapêutico
5.
Appl Immunohistochem Mol Morphol ; 32(5): 244-248, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38712587

RESUMO

Tumor-to-tumor metastasis in the central nerve system is uncommon in our routine practice. Most reports include metastatic breast cancer into meningioma. Here we report a metastatic clear cell renal cell carcinoma (ccRCC) into a cerebellar hemangioblastoma in a patient with von Hippel-Lindau (VHL) disease. Imaging cannot distinguish metastatic ccRCC from primary cerebellar hemangioblastoma. Immuno-molecular studies are proven to be diagnostic. We also reviewed previously documented tumor-to-tumor metastasis of ccRCC to cerebellar hemangioblastoma in VHL disease. Lastly, we discussed potential mechanisms involved in the metastasis of ccRCC to hemangioblastoma in the cerebellum in patients with VHL.


Assuntos
Carcinoma de Células Renais , Neoplasias Cerebelares , Hemangioblastoma , Neoplasias Renais , Doença de von Hippel-Lindau , Humanos , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/diagnóstico , Neoplasias Cerebelares/patologia , Neoplasias Cerebelares/secundário , Hemangioblastoma/patologia , Hemangioblastoma/diagnóstico , Neoplasias Renais/patologia , Neoplasias Renais/diagnóstico , Metástase Neoplásica , Doença de von Hippel-Lindau/patologia , Doença de von Hippel-Lindau/diagnóstico
6.
Radiología (Madr., Ed. impr.) ; 66(2): 132-154, Mar.- Abr. 2024. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-231515

RESUMO

El 80% de los carcinomas renales (CR) se diagnostican incidentalmente por imagen. Se aceptan un 2-4% de multifocalidad «esporádica» y un 5-8% de síndromes hereditarios, probablemente con infraestimación. Multifocalidad, edad joven, historia familiar, datos sindrómicos y ciertas histologías hacen sospechar un síndrome hereditario. Debe estudiarse individualmente cada tumor y multidisciplinarmente al paciente, con estrategias terapéuticas conservadoras de nefronas y un abordaje diagnóstico radioprotector. Se revisan los datos relevantes para el radiólogo en los síndromes de von Hippel-Lindau, translocación de cromosoma-3, mutación de proteína-1 asociada a BRCA, CR asociado a déficit en succinato-deshidrogenasa, PTEN, CR papilar hereditario, cáncer papilar tiroideo-CR papilar, leiomiomatosis hereditaria y CR, Birt-Hogg-Dubé, complejo esclerosis tuberosa, Lynch, translocación Xp11.2/fusión TFE3, rasgo de células falciformes, mutación DICER1, hiperparatoridismo y tumor mandibular hereditario, así como los principales síndromes de predisposición al tumor de Wilms.(AU)


80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of “sporadic” multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition. The concept of “non-hereditary” familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.(AU)


Assuntos
Humanos , Masculino , Feminino , Neoplasias Colorretais Hereditárias sem Polipose , Esclerose Tuberosa , Síndrome de Birt-Hogg-Dubé , Doença de von Hippel-Lindau , Neoplasias Renais , Metástase Neoplásica/diagnóstico por imagem , Radiologia/métodos , Diagnóstico por Imagem , Neoplasias Primárias Múltiplas , Nefropatias/diagnóstico por imagem , Carcinoma de Células Renais
7.
J Neurooncol ; 168(3): 537-545, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38647646

RESUMO

PURPOSE: Von Hippel-Lindau (VHL) disease is an autosomal-dominantly inherited tumor predisposition syndrome. One of the most common tumors are central nervous system (CNS) hemangioblastomas. Recommendations on the initiation and continuation of the screening and surveillance program for CNS tumors in pediatric VHL patients are based on small case series and thus low evidence level. To derive more robust screening recommendations, we report on the largest monocentric pediatric cohort of VHL patients. METHODS: We performed a retrospective analysis on a pediatric cohort of 99 VHL patients consulted at our VHL center from 1992 to 2023. Clinical, surgical, genetic, and imaging data were collected and statistically analyzed. RESULTS: 42 patients (50% male) developed CNS hemangioblastomas, of whom 18 patients (56% male) underwent hemangioblastoma surgery (mean age at first surgery: 14.9 ± 1.9 years; range 10.2-17). The first asymptomatic patient was operated on at the age of 13.2 years due to tumor progress. Truncating VHL mutation carriers had a significantly higher manifestation rate (HR = 3.7, 95% CI: 1.9-7.4, p < 0.0001) and surgery rate (HR = 3.3, 95% CI: 1.2-8.9, p = 0.02) compared with missense mutation carriers. CONCLUSION: We recommend starting MRI imaging at the age of 12 years with examination intervals every (1-) 2 years depending on CNS involvement. Special attention should be paid to patients with truncating variants. Affected families should be educated regularly on potential tumor-associated symptoms to enable timely MRI imaging and eventually intervention, as CNS hemangioblastoma may develop before screening begins. GERMAN CLINICAL TRIALS REGISTER REGISTRATION NUMBER: DRKS00029553, date of registration 08/16/2022, retrospectively registered.


Assuntos
Hemangioblastoma , Doença de von Hippel-Lindau , Humanos , Doença de von Hippel-Lindau/genética , Doença de von Hippel-Lindau/complicações , Hemangioblastoma/cirurgia , Hemangioblastoma/genética , Hemangioblastoma/patologia , Masculino , Feminino , Adolescente , Criança , Estudos Retrospectivos , Neoplasias Cerebelares/genética , Neoplasias Cerebelares/cirurgia , Neoplasias Cerebelares/patologia , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/diagnóstico , Neoplasias do Sistema Nervoso Central/cirurgia , Neoplasias do Sistema Nervoso Central/patologia , Seguimentos , Proteína Supressora de Tumor Von Hippel-Lindau/genética
8.
Clin Nucl Med ; 49(6): e266-e268, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38537203

RESUMO

ABSTRACT: Von Hippel-Lindau disease is a rare multisystem disorder that shows autosomal dominant inheritance. It is a cancer syndrome that is characterized by the development of a variety of benign and malignant tumors-CNS hemangioblastomas, retinal angiomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, adrenal pheochromocytomas, and epididymal cystadenomas. Here we present the 68 Ga-labeled DOTANOC scans of 2 siblings who show an interesting spectrum of findings consistent with Von Hippel-Lindau disease.


Assuntos
Compostos Organometálicos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Irmãos , Doença de von Hippel-Lindau , Humanos , Doença de von Hippel-Lindau/diagnóstico por imagem
9.
Probl Endokrinol (Mosk) ; 70(1): 100-104, 2024 Feb 28.
Artigo em Russo | MEDLINE | ID: mdl-38433546

RESUMO

The description of the child aged 5 months with the von Hippel-Lindau syndrome without any manifestations of this syndrome is presented. The reason for the molecular genetic examination was the presence of cases of this syndrome in the family (mother and sister). The heterozygous variant c.355T>C p.F119L was found in the VHL gene. An objective examination revealed no pathology. A comprehensive laboratory and instrumental examination aimed at searching for components of the von Hippel-Lindau syndrome, including a blood test for metanephrines and normetanephrines, ultrasound of the abdominal organs, examination of the fundus, also did not reveal any abnormalities. Given the results of molecular genetic diagnosis, the child remains under observation and will undergo regular examinations to identify components of the von Hippel-Lindau syndrome, including blood/urine tests for normetanephrines.


Assuntos
Doença de von Hippel-Lindau , Criança , Animais , Humanos , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/diagnóstico , Doença de von Hippel-Lindau/genética , Síndrome , Genes Reguladores , Abomaso , Fundo de Olho , Normetanefrina
10.
Med Sci (Basel) ; 12(1)2024 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-38390862

RESUMO

Familial kidney tumors represent a rare variety of hereditary cancer syndromes, although systematic gene sequencing studies revealed that as many as 5% of renal cell carcinomas (RCCs) are associated with germline pathogenic variants (PVs). Most instances of RCC predisposition are attributed to the loss-of-function mutations in tumor suppressor genes, which drive the malignant progression via somatic inactivation of the remaining allele. These syndromes almost always have extrarenal manifestations, for example, von Hippel-Lindau (VHL) disease, fumarate hydratase tumor predisposition syndrome (FHTPS), Birt-Hogg-Dubé (BHD) syndrome, tuberous sclerosis (TS), etc. In contrast to the above conditions, hereditary papillary renal cell carcinoma syndrome (HPRCC) is caused by activating mutations in the MET oncogene and affects only the kidneys. Recent years have been characterized by remarkable progress in the development of targeted therapies for hereditary RCCs. The HIF2aplha inhibitor belzutifan demonstrated high clinical efficacy towards VHL-associated RCCs. mTOR downregulation provides significant benefits to patients with tuberous sclerosis. MET inhibitors hold promise for the treatment of HPRCC. Systematic gene sequencing studies have the potential to identify novel RCC-predisposing genes, especially when applied to yet unstudied populations.


Assuntos
Síndrome de Birt-Hogg-Dubé , Carcinoma de Células Renais , Neoplasias Renais , Síndromes Neoplásicas Hereditárias , Esclerose Tuberosa , Doença de von Hippel-Lindau , Humanos , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/terapia , Esclerose Tuberosa/genética , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/terapia , Neoplasias Renais/genética , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Rim/patologia , Síndrome de Birt-Hogg-Dubé/genética , Doença de von Hippel-Lindau/genética , Doença de von Hippel-Lindau/terapia
11.
Orphanet J Rare Dis ; 19(1): 73, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38365728

RESUMO

BACKGROUND: To date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this study characterized the prevalence, healthcare resource utilization (HRU), and economic burden of von Hippel-Lindau-associated central nervous system hemangioblastoma (VHL-CNS-Hb) and pancreatic neuroendocrine tumors (VHL-pNET) in the United States (US). METHODS: Patients with VHL-CNS-Hb or VHL-pNET were identified from Optum's de-identified Clinformatics® Data Mart Database (2007-2020) and matched 1:5 to control patients without VHL disease or CNS-Hb/pNET. Prevalence rates of VHL-CNS-Hb and VHL-pNET (standardized by age and sex) in 2019 were estimated. HRU and healthcare costs (2020 US dollars) were compared between the VHL-CNS-Hb/VHL-pNET and control cohorts. RESULTS: In 2019, US prevalence rates of VHL-CNS-Hb and VHL-pNET were estimated to be 1.12 cases per 100,000 (3,678 patients) and 0.12 cases per 100,000 (389 patients), respectively. Patients with VHL-CNS-Hb (N = 220) had more inpatient, outpatient, and emergency department visits and $49,645 higher annual healthcare costs than controls (N = 1,100). Patients with VHL-pNET (N = 20) had more inpatient and outpatient visits and $56,580 higher annual healthcare costs than controls (N = 100). Costs associated with surgical removal of CNS-Hb and pNET were particularly high. CONCLUSIONS: In this retrospective, claims-based study, both VHL-CNS-Hb and VHL-pNET were associated with substantial HRU and healthcare costs, particularly tumor reduction surgery-related costs. These findings provide important insight for healthcare payers regarding the expected real-world costs that enrollees with VHL-CNS-Hb and VHL-pNET may incur over the course of their disease.


Assuntos
Hemangioblastoma , Tumores Neuroectodérmicos Primitivos , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Doença de von Hippel-Lindau , Humanos , Doença de von Hippel-Lindau/complicações , Tumores Neuroendócrinos/epidemiologia , Tumores Neuroendócrinos/patologia , Hemangioblastoma/epidemiologia , Estresse Financeiro , Estudos Retrospectivos , Sistema Nervoso Central/patologia , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/patologia
12.
Medicine (Baltimore) ; 103(6): e37162, 2024 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-38335432

RESUMO

RATIONALE: Hemangioblastomas occur both sporadically and as an important component of von Hippel-Lindau (VHL) disease. The typical MRI features of hemangioblastoma are cysts with enhanced cystic wall nodules in the cerebellum or lesions with uniform enhancement on the surface or inside the spinal cord. If there is edema around hemangioblastoma, it is easy to be misdiagnosed as brain metastasis on MRI. PATIENT CONCERNS: A 41-year-old male patient was found to have a lump in the pancreas during a health examination 3 months ago. Subsequently, the patient underwent surgical treatment. The postoperative pathology suggests that the pancreatic lesion is a neuroendocrine tumor. The patient subsequently came to our hospital for consultation on further treatment plans. Abnormal signals were found in the right cerebellum during pituitary magnetic resonance imaging (MRI) before the development of a treatment plan for neuroendocrine tumors. Subsequently, the patient underwent cerebellar mass resection surgery. The pathological result after the surgery was hemangioblastoma. DIAGNOSIS: The patient underwent surgery to remove the tumor and was diagnosed with hemangioblastoma by pathological examination. Subsequently, the patient's genetic testing results confirmed the diagnosis of VHL syndrome. INTERVENTIONS: The patient underwent cerebellar mass resection surgery. OUTCOMES: The patient recovered after surgical resection. LESSONS: In this report, we emphasize the atypical MRI manifestations of hemangioblastoma. For patients with VHL syndrome-related hemangioblastoma, genetic testing is necessary for the patient and their family members.


Assuntos
Neoplasias Cerebelares , Hemangioblastoma , Tumores Neuroendócrinos , Doença de von Hippel-Lindau , Adulto , Humanos , Masculino , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/cirurgia , Hemangioblastoma/diagnóstico por imagem , Hemangioblastoma/cirurgia , Imageamento por Ressonância Magnética , Tumores Neuroendócrinos/patologia , Medula Espinal/patologia , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética
13.
Clin Radiol ; 79(5): e675-e681, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38383255

RESUMO

AIM: To predict renal tumour growth patterns in von Hippel-Lindau syndrome by utilising radiomic features to assist in developing personalised surveillance plans leading to better patient outcomes. MATERIALS AND METHODS: The study evaluated 78 renal tumours in 55 patients with histopathologically-confirmed clear cell renal cell carcinomas (ccRCCs), which were segmented and radiomics were extracted. Volumetric doubling time (VDT) classified the tumours into fast-growing (VDT <365 days) or slow-growing (VDT ≥365 days). Volumetric and diametric growth analyses were compared between the groups. Multiple logistic regression and random forest classifiers were used to select the best features and models based on their correlation and predictability of VDT. RESULTS: Fifty-five patients (mean age 42.2 ± 12.2 years, 27 men) with a mean time difference of 3.8 ± 2 years between the baseline and preoperative scans were studied. Twenty-five tumours were fast-growing (low VDT, i.e., <365 days), and 53 tumours were slow-growing (high VDT, i.e., ≥365 days). The median volumetric and diametric growth rates were 1.71 cm3/year and 0.31 cm/year. The best feature using univariate analysis was wavelet-HLL_glcm_ldmn (area under the receiver operating characteristic [ROC] curve [AUC] of 0.80, p<0.0001), and with the random forest classifier, it was log-sigma-0-5-mm-3D_glszm_ZonePercentage (AUC: 79). The AUC of the ROC curves using multiple logistic regression was 0.74, and with the random forest classifier was 0.73. CONCLUSION: Radiomic features correlated with VDT and were able to predict the growth pattern of renal tumours in patients with VHL syndrome.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Doença de von Hippel-Lindau , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/diagnóstico por imagem , Radiômica , Tomografia Computadorizada por Raios X , Neoplasias Renais/complicações , Neoplasias Renais/diagnóstico por imagem , Carcinoma de Células Renais/complicações , Carcinoma de Células Renais/diagnóstico por imagem , Carcinoma de Células Renais/patologia
14.
Clin Nucl Med ; 49(3): 289-291, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38306383

RESUMO

ABSTRACT: Von Hippel-Lindau disease is a hereditary syndrome associated with various benign and malignant tumors, including hemangioblastomas. A 42-year-old man with a history of Von Hippel-Lindau disease underwent surgery for pancreatic neuroendocrine tumor and renal clear cell carcinoma and was recommended to undergo Al18F-NOTA-octreotide and 18F-FDG PETCT examination to assess potential metastases. 18F-FDG PET/CT showed low uptake in the right cerebellum, which demonstrated increased Al18F-NOTA-octreotide activity. Cerebellar mass resection surgery was performed. Pathological result was consistent with hemangioblastoma. This case report indicates the significant role of Al18F-NOTA-octreotide in the diagnosis of hemangioblastoma.


Assuntos
Neoplasias Cerebelares , Radioisótopos de Flúor , Hemangioblastoma , Neoplasias Renais , Octreotida/análogos & derivados , Compostos Organometálicos , Doença de von Hippel-Lindau , Masculino , Humanos , Adulto , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Fluordesoxiglucose F18 , Hemangioblastoma/complicações , Hemangioblastoma/diagnóstico por imagem , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Renais/patologia
15.
Transl Vis Sci Technol ; 13(2): 8, 2024 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-38345551

RESUMO

Purpose: To evaluate early detection of retinal hemangioblastomas (RHs) in von Hippel-Lindau disease (VHLD) with widefield optical coherence tomography angiography (wOCTA) compared to the standard of care in ophthalmologic VHLD screening in a routine clinical setting. Methods: We conducted prospective comparisons of three screening methods: wOCTA, standard ophthalmoscopy, and fluorescein angiography (FA), which was performed only in uncertain cases. The numbers of detected RHs were compared among the three screening methods. The underlying causes for the lack of detection were investigated. Results: In 91 eyes (48 patients), 67 RHs were observed (mean, 0.74 ± 1.59 RH per eye). FA was performed in eight eyes. Ophthalmoscopy overlooked 25 of the 35 RHs detected by wOCTA (71.4%) due to the background color of the choroid (n = 5), small tumor size (n = 13), masking by a bright fundus reflex (n = 2), and masking by surrounding retinal scars (n = 5). However, wOCTA missed 29 RHs due to peripheral location (43.3%). The overall detection rates were up to 37% on the basis of ophthalmoscopy alone, up to 52% for wOCTA, and 89% for FA. Within the retinal area covered by wOCTA, the detection rates were up to 46.7% for ophthalmoscopy alone, up to 92.1% for wOCTA, and 73.3% for FA. Conclusions: The overall low detection rate of RHs using wOCTA is almost exclusively caused by its inability to visualize the entire peripheral retina. Therefore, in unclear cases, FA is necessary after ophthalmoscopy. Translational Relevance: Within the imageable retinal area, wOCTA shows a high detection rate of RHs and therefore may be suitable to improve screening for RHs in VHLD.


Assuntos
Hemangioblastoma , Neoplasias da Retina , Doença de von Hippel-Lindau , Humanos , Tomografia de Coerência Óptica/métodos , Doença de von Hippel-Lindau/diagnóstico por imagem , Hemangioblastoma/diagnóstico por imagem , Neoplasias da Retina/diagnóstico por imagem , Angiofluoresceinografia/métodos
16.
Clin Cancer Res ; 30(9): 1750-1757, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38393723

RESUMO

PURPOSE: Primary analysis of the ongoing, single-arm, phase 2 LITESPARK-004 study (NCT03401788) showed clinically meaningful antitumor activity in von Hippel-Lindau (VHL) disease-associated renal cell carcinoma (RCC) and other neoplasms with belzutifan treatment. We describe results of belzutifan treatment for VHL disease-associated pancreatic lesions [pancreatic neuroendocrine tumors (pNET) and serous cystadenomas]. PATIENTS AND METHODS: Adults with VHL diagnosis based on germline VHL alteration, ≥1 measurable RCC tumor, no renal tumor >3 cm or other VHL neoplasm requiring immediate surgery, Eastern Cooperative Oncology Group performance status of 0 or 1, and no prior systemic anticancer treatment received belzutifan 120 mg once daily. End points included objective response rate (ORR), duration of response (DOR), progression-free survival (PFS), and linear growth rate (LGR) in all pancreatic lesions and pNETs per RECIST version 1.1 by independent review committee, and safety. RESULTS: All 61 enrolled patients (100%) had ≥1 pancreatic lesion and 22 (36%) had ≥1 pNET measurable at baseline. Median follow-up was 37.8 months (range, 36.1-46.1). ORR was 84% [51/61; 17 complete responses (CR)] in pancreatic lesions and 91% (20/22; 7 CRs) in pNETs. Median DOR and median PFS were not reached in pancreatic lesions or pNETs. After starting treatment, median LGR for pNETs was -4.2 mm per year (range, -7.9 to -0.8). Eleven patients (18%) had ≥1 grade 3 treatment-related adverse event (AE). No grade 4 or 5 treatment-related AEs occurred. CONCLUSIONS: Belzutifan continued to show robust activity and manageable safety in VHL disease-associated pNETs.


Assuntos
Neoplasias Pancreáticas , Doença de von Hippel-Lindau , Humanos , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/tratamento farmacológico , Doença de von Hippel-Lindau/patologia , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Neoplasias Pancreáticas/tratamento farmacológico , Neoplasias Pancreáticas/patologia , Idoso , Tumores Neuroendócrinos/tratamento farmacológico , Tumores Neuroendócrinos/patologia , Adulto Jovem , Resultado do Tratamento , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Cistadenoma Seroso/tratamento farmacológico , Cistadenoma Seroso/patologia
17.
Int J Hyperthermia ; 41(1): 2308079, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38346873

RESUMO

BACKGROUND: The effect of microwave ablation (MWA) for the renal cell carcinoma (RCC) in Von Hippel-Lindau (VHL) disease is unclear. OBJECTIVE: To assess the safety, Technique efficacy, renal function and oncological outcome of MWA for RCC in VHL patients. METHODS: Consecutive patients with RCCs in VHL disease treated by MWA were retrospectively collected from November 2009 to October 2020. The technical efficacy rate and complications were assessed. The outcomes of pre- and post-ablative eGFR were compared. The local recurrent-free survival (LRFS), renal-cancer-free survival (RCFS), cancer-specific survival (CSS), overall survival (OS) and complications were presented. RESULTS: A total of 10 patients (mean age, 39.0 years ± 10.7 [SD]; 3 women) with 28 RCCs (mean tumor size, 3.0 cm ± 0.34; mean tumor volume, 20.7 mL ± 43.3) treated with MWA were included. Th median follow-up time was 52 months(IQR:27-80). The overall technical efficacy rate was 100% with no major complications occurred. No significant statistical difference between pre-ablative and postablative creatinine level (102.0 µmol/L ± 30.4 vs 112.3 µmol/L ± 38.7, p = 0.06), but the pre-ablative eGFR level was significantly higher than the post-ablative eGFR (78.0 mL/(min*1.73m2) ± 28.6 vs 72 mL/(min*1.73m2) ± 31.4, p = 0.04), with the mean decrease of 5.86 ml/(min*1.73m2). The local recurrent-free survival(LRFS) and renal-cancer-free survival (RCFS) were 100% and 60%, respectively. The cancer specifical survival (CSS) and overall survival (OS) were 95.5% and 100%, respectively. CONCLUSION: Microwave ablation is a safe and feasible method for the treatment of RCC in VHL disease, preserving renal function and yielding satisfactory oncological outcomes.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Doença de von Hippel-Lindau , Humanos , Feminino , Adulto , Carcinoma de Células Renais/cirurgia , Carcinoma de Células Renais/patologia , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/cirurgia , Doença de von Hippel-Lindau/patologia , Micro-Ondas/uso terapêutico , Estudos Retrospectivos , Neoplasias Renais/cirurgia , Neoplasias Renais/patologia
19.
Int J Surg Pathol ; 32(3): 570-577, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-37461831

RESUMO

Neuroendocrine tumors (NETs) are only exceptionally primary to the kidney. At present, scant information is known regarding the behavior and prognosis of renal NETs, especially according to the assessment of grading parameters used for NETs originating from other more commonplace sites such as the pancreas and lungs. There are only rare reports of grade assessment in renal NETs, with most of these reports relying upon now antiquated World Health Organization gastroenteropancreatic and lung/thymus criteria. As an additional prognostic factor, positive CA9 staining in NETs may correlate with elevated grade, stage and risk of metastasis while serving as a potential target of chemotherapy and immunotherapy and indicator of Von Hippel-Lindau Syndrome. Rarer still are descriptions of renal NETs presenting with renal cell carcinoma in the ipsilateral or contralateral kidney. Thus, we present a patient with a primary renal NET of the right kidney with regional lymphovascular invasion and distant metastasis with an emphasis on grading criteria concordant with the World Health Organization 2022 gastroenteropancreatic and lung/thymus systems. In addition, we discuss unusual staining for CA9 in the patient's tumor and a concomitant left kidney clear cell renal cell carcinoma that may act as a clinicopathologic mimic of Von Hippel-Lindau Syndrome.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Doença de von Hippel-Lindau , Humanos , Tumores Neuroendócrinos/patologia , Anidrase Carbônica IX , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/patologia , Neoplasias Renais/patologia , Carcinoma de Células Renais/patologia , Rim/patologia , Neoplasias Pancreáticas/patologia , Gradação de Tumores
20.
Neurosurgery ; 94(3): 630-642, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37967154

RESUMO

BACKGROUND AND OBJECTIVES: Stereotactic radiosurgery (SRS) has been an attractive treatment modality for both cranial and spinal hemangioblastomas, especially for multiple lesions commonly associated with von Hippel-Lindau (VHL) disease. This study aims to provide the largest long-term analysis of treatment efficacy and adverse effects of SRS for cranial and spinal hemangioblastomas at a single institution. METHODS: We evaluated the clinical and radiological outcomes of patients with hemangioblastomas treated with CyberKnife SRS at our institute from 1998 to 2022. The follow-up data were available for 135 hemangioblastomas in 35 patients. Twenty-eight patients had 123 hemangioblastomas associated with VHL, and 7 had 12 sporadic hemangioblastomas. The median age was 36 years, and the median tumor volume accounted for 0.4 cc. The SRS was administered with the median single-fraction equivalent dose of 18 Gy to the 77% median isodose line. RESULTS: At a median follow-up of 57 months (range: 3-260), only 20 (16.2%) of the VHL-associated and 1 (8.3%) sporadic hemangioblastomas progressed. The 5-year local tumor control rate was 91.3% for all hemangioblastomas, 91.7% among the sporadic lesions, and 92.9% in patients with VHL. SRS improved tumor-associated symptoms of 98 (74.8%) of 131 symptomatic hemangioblastomas, including headache, neck pain, dizziness, visual disturbances, dysesthesia, ataxia, motor impairment, seizures, and dysphagia. Two patients developed radiation necrosis (5.7%), and 1 of them required surgical resection. CONCLUSION: SRS is a safe and effective treatment option for patients with hemangioblastomas in critical locations, such as the brainstem, cervicomedullary junction, and spinal cord, and in patients with multiple hemangioblastomas associated with VHL disease.


Assuntos
Hemangioblastoma , Radiocirurgia , Neoplasias da Medula Espinal , Doença de von Hippel-Lindau , Humanos , Adulto , Hemangioblastoma/cirurgia , Hemangioblastoma/complicações , Hemangioblastoma/patologia , Radiocirurgia/efeitos adversos , Estudos Retrospectivos , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/diagnóstico , Doença de von Hippel-Lindau/cirurgia , Resultado do Tratamento , Neoplasias da Medula Espinal/radioterapia , Neoplasias da Medula Espinal/cirurgia , Seguimentos
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