A5088500248- Neuroendocrine Tumor Research Advances
- Pituitary Gland Disorders and Treatments
- Neuroblastoma Research and Treatments
- Parathyroid Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- Lung Cancer Research Studies
- Cancer, Hypoxia, and Metabolism
- Thyroid Cancer Diagnosis and Treatment
- Pancreatic and Hepatic Oncology Research
- BRCA gene mutations in cancer
- Biosimilars and Bioanalytical Methods
- Thyroid and Parathyroid Surgery
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Salivary Gland Tumors Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- High Altitude and Hypoxia
- Growth Hormone and Insulin-like Growth Factors
- Bone health and treatments
- RNA modifications and cancer
- Magnesium in Health and Disease
- Electrolyte and hormonal disorders
- Glycogen Storage Diseases and Myoclonus
- Cardiac tumors and thrombi
- Genetic and Kidney Cyst Diseases
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2012-2025
Instituto do Câncer do Estado de São Paulo
2013-2025
Universidade de São Paulo
2012-2025
WiLAN (Canada)
2024
Centro Universitário das Faculdades Metropolitanas Unidas
2012
Centro de Genética Clínica
2011
Zero to Three
2010
Águas de Portugal (Portugal)
2008
Endocrinology Research Center
2008
The Prophet of Pit-1 gene (PROP1) encodes a paired-like homeodomain protein, which is expressed early in pituitary gland development. When mutated, it responsible for combined hormone deficiency (CPHD) humans, as well Ames dwarf mice (df/df). Several independent mutations the PROP1 have been identified causative human CPHD phenotype, has characterized, thus far, absence or low levels GH, PRL, TSH, LH, and FSH. Here, we report 10 cases, 9 were born to consanguineous marriages occurring large...
Abstract Context: Acromegaly is usually sporadic, but familial cases occur in association with several pituitary tumor syndromes. Recently mutations the aryl hydrocarbon receptor interacting protein (AIP) gene were associated adenoma predisposition. Objective: The objective of study was to investigate status AIP a predisposition family. Settings: conducted at nonprofit academic center and medical centers. Patients: Eighteen members Brazilian family acromegaly studied. Results: A novel...
Abstract Differences in bone mineral density (BMD) patterns have been recently reported between multiple endocrine neoplasia type 1–related primary hyperparathyroidism (HPT/MEN1) and sporadic HPT. However, studies on the early later outcomes of bone/renal complications HPT/MEN1 are lacking. In this cross-sectional study, performed a tertiary academic hospital, 36 patients cases with uncontrolled HPT from 8 unrelated MEN1 families underwent dual-energy X-ray absorptiometry (DXA) scanning...
To perform clinical and genetic screening for multiple endocrine neoplasia type 1 (MEN1) in patients at the Academic Hospital of University São Paulo School Medicine, to analyze its impact on management with MEN1. The diagnosis MEN1 was made accordance Consensus neoplasias. Mutation analysis entire tumor suppressor gene at-risk family members were performed by direct sequencing. implementation diagnosis, studied separated into 3 groups: index cases (group I), clinically diagnosed II),...
Data are scarce on the penetrance of multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-PETs) and insulinomas in young MEN1 patients. A potential positive correlation between tumor size malignancy (2-3 cm, 18%; >3 43%) has greatly influenced management adults with NF-PETs.The aim study was to estimate NF-PETs, insulinomas, gastrinomas carriers.The data were obtained from a screening program (1996-2012) involving 113 patients tertiary...
Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, survival data guide surgical management lacking. We established the European-American-Asian-VHL-PanNET-Registry assess risks metastases, long-term outcomes provide best recommendations. Of 2330 VHL patients, 273 had a total of 484 PanNETs. Median age at diagnosis PanNET was 35 years...
The phenotype of familial pheochromocytoma (PHEO) associated with germline TMEM127 mutations (TMEM127-related PHEO) has not been clearly defined.This study aimed to investigate the penetrance, full phenotypic spectrum and effectiveness clinical/genetic screening in TMEM127-related PHEO.Clinical genetic screening, counseling were offered 151 individuals from a six-generation family carrying mutation referral center.TMEM127 testing was at-risk relatives clinical surveillance for performed...
Only few large families with multiple endocrine neoplasia type 1 (MEN1) have been documented. Here, we aimed to investigate the clinical features of a seven-generation Brazilian pedigree, which included 715 at-risk family members.Genealogical and geographic analysis was used identify MEN1 pedigree. Clinical genetic approach applied characterize phenotypic genotypic members.Our data indicated that founding mutation in gene has occurred this extended family. Fifty members were diagnosed MEN1....
Accurate interpretation of germline mutations the rearranged during transfection (RET) proto-oncogene is vital for proper recommendation preventive thyroidectomy in medullary thyroid carcinoma (MTC)-prone carriers. To gain information regarding most disputed variant RET, ATA-A Y791F, we sequenced blood DNA samples from a cohort 2904 cancer-free elderly individuals (1261 via Sanger sequencing and 1643 whole-exome/genome sequencing). We also accessed exome sequences an additional 8069...
Abstract Context Paragangliomas (PGLs) are rare tumors in adrenal and extra-adrenal locations. Metastasis found approximately 5% to 35% of PGLs, there no reliable predictors metastatic disease. Objective This work aimed develop a prognostic score potential PGLs. Methods A retrospective analysis was conducted clinical data from cohort with PGLs tumor histological assessment. Patients were divided into PGL (presence metastasis) nonmetastatic (absence metastasis ≥96 months follow-up) groups....
Introduction: Central diabetes insipidus (CDI) is a rare disorder caused by deficiency in the secretion of arginine vasopressin (AVP) from posterior pituitary. It can be either acquired or congenital, often due to genetic factors, and typically inherited an autosomal dominant manner. Case presentation: This study describes clinical features analysis father his son with familial CDI. Both presented childhood typical symptoms, including polyuria, polydipsia, hypernatremia. Diagnosis was...
In this study, our aim was to search for new genotype-phenotype correlations in patients with Von Hippel-Lindau (VHL) disease. We retrospectively studied 53 consecutive VHL disease and confirmed genetic diagnoses from 32 relatives. Most pathogenic or likely variants were missense (18 out of 32; 56.25%). The median size the large carcinoma (RCC) 3.6 cm (interquartile range, 2.8 6.5 cm). Interestingly, RCC harboring (n = 9) significantly greater than that 7) (5.4 [3.65 6.6] vs. 2.9 [2.45...
Abstract Background Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disease caused by pathogenic variants (PVs) in HPGD and SLCO2A1 genes whose phenotypes were, respectively, designated as PHOAR1 PHOAR2. Recently, dominantly inherited form (PHOAD) was identified heterozygous PHO penetrance widely unknown data on phenotype are markedly limited. We intended to reveal the extend/refine of heterozygotes. Methods Both were sequenced using Sanger sequencing. Results The...
Abstract This study explores parallels between systemic hypoxia adaptation in high-altitude populations and tumorigenesis. We identified EPAS1, a gene critical for such as Tibetans Sherpas, playing similar adaptive role tumors arising under hypoxic conditions. Tumors from patients with chronic displayed impaired DNA repair frequent emergence of EPAS1 variants, frequencies reaching up to 90%, echoing the positive selection seen dwellers. Mechanistically, gain-of-function mutations promote...
Context: Previous studies have shown that double RET mutations may be associated with unusual multiple endocrine neoplasia type 2 (MEN 2) phenotypes.
The treatment of advanced medullary thyroid carcinoma (MTC) has evolved significantly over the past decade. discovery genetic abnormalities in MTC led to development targeted therapies such as vandetanib and cabozantinib. Other kinase inhibitors (KI), sorafenib, have been investigated this setting are an alternative therapeutic option. lack specificity these KIs a single target may result additional, unexpected effects. In report, we describe patient with metastatic Ectopic ACTH...
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that characterized medullary thyroid carcinoma (MTC) associated with other tumors. Several reports have demonstrated the mutation profile may vary according to geographical area. In this study, we collected clinical and molecular data from 554 patients surgically confirmed MTC 176 families MEN2 in 18 different Brazilian centers compare prevalence of those countries. The...
To characterize clinical features and identify MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1 (MEN1). Settings Non-profit academic centre.Fourteen 141 at-risk relatives.We identified 12 different disease-causing mutations, seven of them previously unreported: 308delC; 375del21; 549A>T (I147F); 1243delA; 1348T>G (L413R); 1351T>C (L414P) 1523G>T (W471C). Families the recurrent 360delTCTA L413R were shown to be unrelated by mitochondrial-DNA Y-chromosome...