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1.
Mod Pathol ; 34(3): 647-659, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32770124

RESUMO

Biphasic squamoid alveolar papillary renal cell carcinoma (BSA-PRCC) is a recently studied lesion considered a morphologic variant of papillary renal cell carcinoma (RCC), more closely related to type 1. Considering the role of proto-oncogene MET in both sporadic type 1 papillary RCC and hereditary papillary RCC, we aimed to explore the role of MET activation in the oncogenesis of BSA-PRCC. We identified 17 patients with either unique (n = 14) or multiple (n = 3) BSA-PRCC, all localized, and performed an integrative analysis of MET status in 18 formalin-fixed paraffin-embedded tumors combining next-generation sequencing analysis, fluorescent in situ hybridization and immunohistochemistry. Trisomy 7 was found in 86% of tumors (14/16) without MET amplification at 7q31 (15/15). A pathogenic MET genetic variant was identified in 60% (9/15) of cases, at the germline level in 57% (4/7) of tested patients or at the somatic level (5/11). MET expression was observed in all tumors with a higher value of combined score in large cells (mean 97%, range 80-100%) than in small cells (mean 74%, range 10-100%) and was lower in two cases without MET copy number gain. In conclusion, our study provides additional evidence to consider biphasic squamoid alveolar papillary RCC as a morphological variant of type 1 papillary renal RCC. Our data strongly suggest that MET represents a major oncogenic driver gene in BSA-PRCC, harboring a higher frequency of MET mutation that encourages to further explore the benefice of anti-MET targeted therapies for aggressive BSA-PRCC.


Assuntos
Biomarcadores Tumorais/genética , Carcinoma Papilar/genética , Carcinoma de Células Renais/genética , Neoplasias Renais/genética , Mutação , Proteínas Proto-Oncogênicas c-met/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Papilar/patologia , Carcinoma de Células Renais/patologia , Variações do Número de Cópias de DNA , Análise Mutacional de DNA , Feminino , Dosagem de Genes , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade , Paris , Fenótipo , Proto-Oncogene Mas
2.
Surg Today ; 43(10): 1188-93, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23080414

RESUMO

Hepatic endometriosis has an extremely rare occurrence characterized by the presence of ectopic endometrium in the liver. A diagnosis of hepatic endometriosis is established after surgery. A 51-year-old multiparous female was referred to our unit for investigation of a liver tumor. The patient reported a 6-month history of epigastric pain and vomiting. She had undergone conservative hysterectomy for uterine leiomyomas several years earlier. The results of liver function tests and the levels of tumor markers (CA 19.9, CEA, CA125, αFP) were normal. Radiological imaging (USS, CT and MRI) suggested the presence of liver cystadenoma, liver cystadenocarcinoma or cystic metastasis of the liver in the left liver lobe extending to the diaphragm with left hepatic vein compression. Laparotomy was performed. The intraoperative frozen sections suggested a diagnosis of endometriosis. Anatomical resection was performed, including left lobectomy with diaphragm resection. The final histology confirmed the presence of hepatic endometrioma without malignant transformation. Fourteen cases of hepatic endometrioma have been described in the medical literature. We herein report the 15th case. Making a preoperative diagnosis of hepatic endometriosis is very difficult, despite conducting a complete investigation, in the absence of clinical and radiological characteristics. The diagnosis is made according to a histological examination of the whole surgical sample.


Assuntos
Coristoma/diagnóstico , Endometriose/diagnóstico , Endometriose/patologia , Endométrio , Hepatopatias/diagnóstico , Hepatopatias/patologia , Coristoma/patologia , Coristoma/cirurgia , Diagnóstico por Imagem , Diafragma/cirurgia , Endometriose/cirurgia , Feminino , Hepatectomia , Humanos , Laparotomia , Hepatopatias/cirurgia , Pessoa de Meia-Idade
3.
Clin Genitourin Cancer ; 20(1): e53-e60, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34815184

RESUMO

BACKGROUND: Active surveillance (AS) is a validated option for the treatment of small renal masses (SMRs), especially in older patients. This study investigates the oncologic outcomes and competitive mortality of older patients prospectively assigned to AS. METHODS: We conducted a monocentric study on patients ≥75 years treated between 2011 and 2016 for a SMR. Treatment modalities, biopsy data, survivals (overall, specific, cancer progression) and delayed interventions were analyzed. RESULTS: Overall, 106 patients (median age 80.5 years) were included, of which 41 were managed by AS during a follow-up of 3.4 years [0-7.1]. Seven patients (17%) had a primary biopsy with 3 confirmed renal cell carcinomas. Fourteen patients (34.1%) presented with progression (29.2% local; 4.9% metastatic), 8 (19.5%) requiring delayed interventions (75% ablative therapy and 25% radical nephrectomy). Overall survival (OS) was 68.3% and cancer specific survival was 95.1% during the study period. Competitive mortality was higher (84.6%) than cancer specific mortality (15.4%), P = .001. CONCLUSION: The growth rate of progression including 4.9% metastatic progression underlines the value of AS compared to simple watchful surveillance in the treatment of SMRs in older patients. Of note, the higher competitive mortality confirm that AS should be preferred to active intervention at the beginning of the management.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/cirurgia , Progressão da Doença , Feminino , Humanos , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Masculino , Nefrectomia/métodos , Conduta Expectante/métodos
4.
J Pediatr Surg ; 53(10): 1908-1913, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29803304

RESUMO

OBJECTIVES: Giant omphalocele often represents a major surgical challenge and is reported with high mortality and morbidity rates. The aim of this study was to assess the outcome of neonates with giant omphalocele managed with early operative surgical treatment, and subsequently to identify possible factors that could alter the prognosis. METHODS: We reviewed the medical records of 29 consecutive newborns with prenatally diagnosed giant omphalocele. In these cases one of two procedures had been performed: either staged closure after silo, or immediate closure with a synthetic patch. The cases were separated into 2 groups: Isolated giant omphalocele (IO group) and giant omphalocele associated with malformation (NIO group). RESULTS: Infants in the IO group had a lower size of the omphalocele (p<0,001), a shorter hospital stay (95 days [45-915] vs. 41.5 days [10-110] p= 0, 02), and a shorter median ventilation length (10 days [1-33] vs. 27, 5 [6-65] p = 0, 05). In the NIO group, 5 cases displayed a significantly more difficult course than the others. They were compared to the remaining cases for prenatal and anatomic features. Four factors associated with greater morbidity were identified: CONCLUSIONS: Isolated omphalocele, even containing the whole liver, has a very good prognosis with early surgical treatment. Without associated anomalies, 95% of giant omphaloceles can be discharged with a median of 41.5 days in hospital. However, associated anomalies (especially cardiopathies) may burden the prognosis and should be both carefully assessed during pregnancy and taken into account in parental information. TYPE OF STUDY: Retrospective Study LEVEL OF EVIDENCE: Level I.


Assuntos
Hérnia Umbilical/cirurgia , Herniorrafia , Herniorrafia/métodos , Herniorrafia/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Tempo de Internação/estatística & dados numéricos , Estudos Retrospectivos , Tempo para o Tratamento/estatística & dados numéricos , Resultado do Tratamento
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