RESUMEN
INTRODUCTION: Soft tissue sarcomas (STS) are rare malignant tumors that require management by an expert center. Monitoring modalities are not consensual. The objective of our study is to report systematic radiological monitoring data obtained by local MRI and by thoracic-abdominal-pelvic computed tomography (TAP CT). MATERIAL AND METHODS: 113 consecutive patients managed at "Centre Georges François Leclerc, Dijon", between 2008 and 2016, for an initially localized STS were included. Patient follow-up consisted of a local MRI and a TAP CT. Follow-up exams schedule was initially every 4 months during 2 years, followed by every 6 months during 3 years and finally every year during 5 years. RESULTS: Median follow-up time was 37.2 months [minâ¯=â¯2.4 - maxâ¯=â¯111.6]. After 5 years of surveillance, local recurrence (LR) rate was 8.8% and diagnosed by imaging in 60% of cases. No deep LR was clinically found. Median LR diagnosis time was 23.9 months [minâ¯=â¯2.0 - maxâ¯=â¯52.4]. 50% of patients locally treated for their LR were alive without recurrence. Metastatic recurrence (MR) rate was 31%. 42.8% had extra-pulmonary involvement and 17.1% had exclusive extrathoracic metastases. The median time to diagnosis of MR was 17.4 months [minâ¯=â¯2.7- maxâ¯=â¯77.2]. High-grade tumors relapsed more (20.4%) and earlier (all before the 5th year) than low grade. CONCLUSION: Local MRI seems particularly suitable for monitoring deep tumors. In addition, the systematic monitoring by TAP CT highlighted a limited number of cases of exclusive extrathoracic metastases. The schedule of local and remote monitoring should primarily be adjusted to tumor grade.
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Neoplasias Óseas/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Recurrencia Local de Neoplasia/diagnóstico por imagen , Neoplasias Peritoneales/diagnóstico por imagen , Sarcoma/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Abdomen/diagnóstico por imagen , Adulto , Cuidados Posteriores/métodos , Anciano , Anciano de 80 o más Años , Neoplasias Óseas/secundario , Extremidades , Femenino , Humanos , Estimación de Kaplan-Meier , Neoplasias Pulmonares/secundario , Masculino , Persona de Mediana Edad , Metástasis de la Neoplasia , Pelvis/diagnóstico por imagen , Neoplasias Peritoneales/secundario , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Sarcoma/secundario , Sarcoma/cirugía , Neoplasias de los Tejidos Blandos/patología , Neoplasias de los Tejidos Blandos/cirugía , Tórax/diagnóstico por imagen , Torso , Adulto JovenRESUMEN
Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes. We studied 583 consecutive patients from Burgundy (France) fulfilling the criteria for BRCA testing using a next generation sequencing 25-genes panel including 20 well-established high-risk cancer genes as well as more recently identified predisposing HBOC cancer. A pathogenic BRCA1/2 mutation was found in 51 patients (9%). Besides, we found 37 pathogenic or likely pathogenic mutations in 10 different high to low-risk genes in 34 patients (6%). The most frequently mutated genes were CHEK2 (n = 12; 2%), ATM (n = 9; 1.5%), and PALB2 (n = 4; 0.6%). Three patients had a mutation in two different predisposing genes. The analysis of clinical actionability conducted in mutation-positive individuals revealed that additional disease-specific screening and/or prevention measures beyond those based on personal and family history alone had been recommended in 69% of cases. In conclusion, multigene panel testing is a powerful tool to identifying high to low-risk HBOC susceptibility genes. The penetrance and spectrum of cancers with these other genes are sometimes undefined, and further collaborative work is crucial to address this question.
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Biomarcadores de Tumor/genética , Pruebas Genéticas , Síndrome de Cáncer de Mama y Ovario Hereditario/diagnóstico , Pautas de la Práctica en Medicina , Transcriptoma , Investigación Biomédica Traslacional , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Práctica Clínica Basada en la Evidencia , Femenino , Francia/epidemiología , Regulación Neoplásica de la Expresión Génica , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Pruebas Genéticas/normas , Pruebas Genéticas/estadística & datos numéricos , Síndrome de Cáncer de Mama y Ovario Hereditario/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Linaje , Relaciones Médico-Paciente , Guías de Práctica Clínica como Asunto/normas , Pautas de la Práctica en Medicina/normas , Pautas de la Práctica en Medicina/estadística & datos numéricos , Relaciones Profesional-Familia , Investigación Biomédica Traslacional/normas , Investigación Biomédica Traslacional/estadística & datos numéricosRESUMEN
Type 1 auto-immune pancreatitis (type 1 AIP) is the pancreatic manifestation of IgG4-related systemic disease (IgG4-RD). This disease has recently been individualized and is characterized by elevated serum IgG4 levels and extrapancreatic lesions with common histologic characteristic: dense infiltration of lymphocytes, IgG4-positive plasma cells and storiforme fibrosis. Obliterative phlebitis is frequently detected. The pancreas is frequently involved in this disease. As approach to the pancreas for histological examination is generally difficult, AIP is diagnosed using a combination of clinical, serological, morphological and histopathological features. In pseudotumoral cases, AIP can be misdiagnosed as pancreatic cancer. Since AIP responds dramatically to steroid therapy, accurate diagnosis of AIP can avoid unnecessary laparotomy or pancreatic resection. We report here a case of a patient who underwent surgery for presumed pancreatic cancer. The final diagnosis was type 1 AIP.
Asunto(s)
Adenocarcinoma/diagnóstico , Enfermedades Autoinmunes/diagnóstico , Errores Diagnósticos , Hipergammaglobulinemia/complicaciones , Inmunoglobulina G/análisis , Neoplasias Pancreáticas/diagnóstico , Pancreatitis/diagnóstico , Anciano , Enfermedades Autoinmunes/etiología , Enfermedades Autoinmunes/patología , Enfermedades Autoinmunes/cirugía , Biopsia , Humanos , Ictericia Obstructiva/etiología , Laparotomía , Masculino , Pancreaticoduodenectomía , Pancreatitis/etiología , Pancreatitis/patología , Pancreatitis/cirugía , Pérdida de PesoRESUMEN
Our objective was to describe the main aspects of MR imaging in Caroli's disease. Magnetic resonance cholangiography with a dynamic contrast-enhanced study was performed in nine patients with Caroli's disease. Bile duct abnormalities, lithiasis, dot signs, hepatic enhancement, renal abnormalities, and evidence of portal hypertension were evaluated. Three MR imaging patterns of Caroli's disease were found. In all but two patients, MR imaging findings were sufficient to confirm the diagnosis. Moreover, MR imaging provided information about the severity, location, and extent of liver involvement. This information was useful in planning the best therapeutic strategy. Magnetic resonance cholangiography with a dynamic contrast-enhanced study is a good screening tool for Caroli's disease. Direct cholangiography should be reserved for confirming doubtful cases.