In one paragraphArticle in Archives of endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
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4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
17 authors.
Gustavo H MoriUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0003-3547-6781 Gustavo F C FagundesUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0003-4097-3029 Lucas S SantanaUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0003-0428-2386 Felipe Freitas-CastroUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0002-5340-432X Ana Caroline F AfonsoLaboratório de Hormônios e Genética Molecular LIM42, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0009-0002-6179-0854 Delmar M LourençoUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0003-1147-4159 Maria Adelaide A PereiraLaboratório de Hormônios e Genética Molecular LIM42, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0002-9576-1587 Fabio Y TannoDivisão de Urologia, Hospital das Clínicas & Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0001-9148-8002 Victor SrougiDivisão de Urologia, Hospital das Clínicas & Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0001-8346-3833 Jose L ChamboDivisão de Urologia, Hospital das Clínicas & Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0009-0006-3686-5892 Mauricio D CordeiroDivisão de Urologia, Hospital das Clínicas & Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0001-8439-3283 William C NahasDivisão de Urologia, Hospital das Clínicas & Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0002-7395-8370 Ana O HoffUnidade de Oncologia Endócrina, Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0002-7058-6321 Maria Candida B V FragosoLaboratório de Hormônios e Genética Molecular LIM42, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0001-6150-1915 Berenice B MendoncaLaboratório de Hormônios e Genética Molecular LIM42, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0003-1762-1084 Ana Claudia LatronicoUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0001-6782-693X Madson Q AlmeidaUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID 0000-0002-2957-6148 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
objectiveIn this study, our aim was to search for new genotype-phenotype correlations in patients with Von Hippel-Lindau (VHL) disease. SUBJECTS AND
methodsWe retrospectively studied 53 consecutive patients with VHL disease and confirmed genetic diagnoses from 32 relatives.
resultsMost VHL pathogenic or likely pathogenic variants were missense (18 out of 32; 56.25%). The median size of the large carcinoma (RCC) was 3.6 cm (interquartile range, 2.8 to 6.5 cm). Interestingly, the size of the large RCC in patients harboring VHL pathogenic variants (n = 9) was significantly greater than that in patients with VHL likely pathogenic (n = 7) variants (5.4 cm [3.65 to 6.6] vs. 2.9 cm [2.45 to 3.35]; p = 0.008). Moreover, adrenal paraganglioma (PGL) (82.35% vs. 17.65%; p = 0.0001) and pancreatic neuroendocrine tumor (PNET) (81.81% vs. 18.18%; p = 0.007) were associated with missense VHL pathogenic or likely pathogenic variants compared with non-missense defects. In contrast, central nervous system (CNS) hemangioblastomas (HBs) (90.47% vs. 53.12%; p = 0.004), pancreatic cysts (76.19% vs. 28.12%; p = 0.001) and RCCs (57.14% vs. 12.5; p = 0.001) were more common in patients with non-missense VHL variants.
conclusionVHL pathogenic variants were associated with larger RCCs than were VHL likely pathogenic variants.
Indexed as
Carcinoma, Renal CellGerm-Line MutationKidney Neoplasmsvon Hippel-Lindau DiseaseVon Hippel-Lindau Tumor Suppressor ProteinAdrenal Gland NeoplasmsAdultAgedFemaleGenetic Association StudiesHumansMaleMiddle AgedMutation, MissensePancreatic NeoplasmsParagangliomaVHL protein, humanVon Hippel-Lindau Tumor Suppressor Proteinadrenal paragangliomageneticsrenal cell carcinomaVon Hippel-Lindau disease
Identifiers
PMID39945572
PMCPMC11834860
What OpenQuestion holds
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