RESUMO
BACKGROUND: Mutations in driver genes such as IDH and BRAF have been identified in gliomas. Meanwhile, dysregulations in the p53, RB1, and MAPK and/or PI3K pathways are involved in the molecular pathogenesis of glioblastoma. RAS family genes activate MAPK through activation of RAF and PI3K to promote cell proliferation. RAS mutations are a well-known driver of mutation in many types of cancers, but knowledge of their significance for glioma is insufficient. The purpose of this study was to reveal the frequency and the clinical phenotype of RAS mutant in gliomas. METHODS: This study analysed RAS mutations and their clinical significance in 242 gliomas that were stored as unfixed or cryopreserved specimens removed at Kyoto University and Osaka National Hospital between May 2006 and October 2017. The hot spots mutation of IDH1/2, H3F3A, HIST1H3B, and TERT promoter and exon 2 and exon 3 of KRAS, HRAS, and NRAS were analysed with Sanger sequencing method, and 1p/19q codeletion was analysed with multiplex ligation-dependent probe amplification. DNA methylation array was performed in some RAS mutant tumours to improve accuracy of diagnosis. RESULTS: RAS mutations were identified in four gliomas with three KRAS mutations and one NRAS mutation in one anaplastic oligodendroglioma, two anaplastic astrocytomas (IDH wild-type in each), and one ganglioglioma. RAS-mutant gliomas were identified with various types of glioma histology. CONCLUSION: RAS mutation appears infrequent, and it is not associated with any specific histological phenotype of glioma.
Assuntos
Neoplasias Encefálicas/genética , Genes ras/genética , Glioma/genética , Mutação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Astrocitoma/genética , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Metilação de DNA , Metilases de Modificação do DNA/metabolismo , Análise Mutacional de DNA/métodos , Enzimas Reparadoras do DNA/metabolismo , Éxons/genética , Feminino , Glioblastoma/genética , Glioma/patologia , Histonas/genética , Humanos , Isocitrato Desidrogenase/genética , Masculino , Pessoa de Meia-Idade , Oligodendroglioma/genética , Fenótipo , Regiões Promotoras Genéticas , Telomerase/genética , Proteínas Supressoras de Tumor/metabolismo , Adulto JovemRESUMO
Medulloblastoma is the second-most common malignant tumor in children. Medulloblastoma has been categorized into four distinct molecular subgroups: WNT, sonic hedgehog (SHH), group 3, and group 4. We report on a male child with medulloblastoma, in whom an enlarged ventricle was diagnosed in utero. Magnetic resonance imaging showed cyst formation in the cerebellar hemisphere initially, with tumor growth being indicated later. Tumor resection was performed when the boy was 12 months old. The histological findings showed extensive nodularity. Further genetic analysis revealed the tumor to be SHH type. This is the first description of a medulloblastoma observed from the fetal stage. Our findings in this case indicate that cyst formation may be the pre-neoplastic lesion of SHH-subtype medulloblastomas.
Assuntos
Neoplasias Cerebelares , Meduloblastoma , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/cirurgia , Cerebelo/metabolismo , Criança , Proteínas Hedgehog/genética , Proteínas Hedgehog/metabolismo , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Meduloblastoma/diagnóstico por imagem , Meduloblastoma/cirurgiaRESUMO
Epstein-Barr virus (EBV) reactivation causes serious diseases in immunocompromised hosts, such as acquired immunodeficiency syndrome (AIDS). We report on a case of plasmablastic lymphoma (PBL) with hemophagocytic lymphohistiocytosis (HLH).A-53-year-old Japanese man was diagnosed with PBL and AIDS. In addition to combined antiretroviral therapy, HyperCVAD (cyclophosphamide, doxorubicin, vincristine, prednisone)/high-dose methotrexate + cytarabine was initiated immediately. Partial remission was attained with chemotherapy. However, the patient developed HLH and died despite intensive therapy. Autopsy findings suggested that PBL was controlled, and immunosuppression appeared to cause fatal infection. The patient showed high titers of EBV viral-capsid antigen (VCA)-IgG (1:2560) on PBL diagnosis and high EBV-DNA levels throughout the clinical course. Moreover, EBV-DNA was detected in the fraction of CD8-positive cells, which strongly supports the pathogenesis of EBV-associated HLH.Our report highlights the importance of EBV control in patients with EBV-positive AIDS lymphoma. EBV not only behaves as the etiologic pathogen of PBL but also can be a trigger of HLH, the fatal complication. Careful follow-up of the EBV status should be performed, and if needed, preemptive anti-EBV therapy should also be considered to prevent EBV-associated complications such as HLH.
Assuntos
Coinfecção/complicações , Infecções por Vírus Epstein-Barr/complicações , Infecções por HIV/complicações , Herpesvirus Humano 4 , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/etiologia , Linfoma Plasmablástico/diagnóstico , Linfoma Plasmablástico/etiologia , Autopsia , Biomarcadores , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/virologia , Infecções por HIV/virologia , Humanos , Imuno-Histoquímica , Imunofenotipagem , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons combinada à Tomografia ComputadorizadaRESUMO
INTRODUCTION: This study investigates the current state of clinical practice and molecular analysis for elderly patients with diffuse gliomas and aims to elucidate treatment outcomes and prognostic factors of patients with glioblastomas. METHODS: We collected elderly cases (≥ 70 years) diagnosed with primary diffuse gliomas and enrolled in Kansai Molecular Diagnosis Network for CNS Tumors. Clinical and pathological characteristics were analyzed retrospectively. Various factors were evaluated in univariate and multivariate models to examine their effects on overall survival. RESULTS: Included in the study were 140 elderly patients (WHO grade II: 7, III: 19, IV: 114), median age was 75 years. Sixty-seven patients (47.9%) had preoperative Karnofsky Performance Status score of ≥ 80. All patients underwent resection (gross-total: 20.0%, subtotal: 14.3%, partial: 39.3%, biopsy: 26.4%). Ninety-six of the patients (68.6%) received adjuvant treatment consisting of radiotherapy (RT) with temozolomide (TMZ). Seventy-eight of the patients (75.0%) received radiation dose of ≥ 50 Gy. MGMT promoter was methylated in 68 tumors (48.6%), IDH1/2 was wild-type in 129 tumors (92.1%), and TERT promoter was mutated in 78 of 128 tumors (60.9%). Median progression-free and overall survival of grade IV cases was 8.2 and 13.6 months, respectively. Higher age (≥ 80 years) and TERT promoter mutated were associated with shorter survival. Resection and adjuvant RT + TMZ were identified as independent factors for good prognosis. CONCLUSIONS: This community-based study reveals characteristics and outcomes of elderly glioma patients in a real-world setting. Elderly patients have several potential factors for poor prognosis, but resection followed by RT + TMZ could lengthen duration of survival.
Assuntos
Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/terapia , Glioma/metabolismo , Glioma/terapia , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/mortalidade , Metilação de DNA , Metilases de Modificação do DNA/genética , Metilases de Modificação do DNA/metabolismo , Enzimas Reparadoras do DNA/genética , Enzimas Reparadoras do DNA/metabolismo , Feminino , Glioma/genética , Glioma/mortalidade , Humanos , Isocitrato Desidrogenase/genética , Japão , Masculino , Mutação , Gradação de Tumores , Prognóstico , Estudos Retrospectivos , Telomerase/genética , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismoRESUMO
We report a case of retroperitoneal cavernous hemangioma. A 77-year-old woman complaining of nausea was admitted to a different hospital in September 2013. Computed tomography (CT) detected a retroperitoneal mass in the left pararenal space. Three years later, repeated CT showed that the tumor had gradually grown in size. On dynamic contrast-enhanced magnetic resonance imaging (MRI), the tumor demonstrated radiographic signs of a liposarcoma. Resection of the mass with left nephrectomy was performed in June 2016, and histopathology showed cavernous hemangioma. Clinical diagnosis of cavernous hemangioma is difficult, and imaging modalities, including CT and MRI, may not be conclusive. The final diagnosis in most cases is established through surgery. This is the 29th case of retroperitoneal cavernous hemangioma to be reported in Japan.
Assuntos
Diagnóstico Diferencial , Hemangioma Cavernoso/diagnóstico por imagem , Hemangioma Cavernoso/patologia , Lipossarcoma/diagnóstico , Neoplasias Retroperitoneais/diagnóstico , Idoso , Feminino , Humanos , Imageamento por Ressonância MagnéticaRESUMO
The prevalence of Crohn's disease (CD) in Japan is increasing, and so is the incidence of colorectal and small bowel cancers associated with CD. However, few reports have described the malignant transformation of duodenal lesions; moreover, such a diagnosis is rarely possible preoperatively. We present a case of malignant degeneration in the duodenal mucosa associated with CD. A 54-year-old man had been receiving treatment for CD for more than 20 years. Seven years ago, he was diagnosed with duodenal stenosis related to CD. He was asymptomatic, and biopsy results from the proximal stricture showed inflammatory changes without malignant transformation. The lesion was then monitored during follow-up. In 2013, he underwent an endoscopy, which revealed an ulcerated, nodular mucosa, immediately proximal to a high-grade obstruction of the descending duodenum. A biopsy of the ulcer lesion confirmed a diagnosis of adenocarcinoma. The patient then underwent duodenopancreatectomy. Histopathological results from the resected duodenum confirmed a poorly differentiated adenocarcinoma that had invaded the subserosa. The patient recovered, and no recurrence has been observed. Although the duodenum can be accessed without difficulty during endoscopy, it is challenging to preoperatively diagnose malignant transformation. There are only four reported cases of duodenal cancer stemming from CD-associated stricture, and only one of them received a preoperative diagnosis of malignancy based on endoscopic biopsy results. Progressive duodenal narrowing and ulceration in patients with CD should indicate a need for careful endoscopic evaluation and biopsy in order to exclude malignant degeneration of Crohn's duodenitis. Early diagnosis of cases of CD-associated cancers is necessary. We report the features of a rare and illustrative case of duodenal adenocarcinoma in a patient with CD.
Assuntos
Adenocarcinoma/complicações , Doença de Crohn/complicações , Neoplasias Duodenais/complicações , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Opportunistic infections and malignancies such as malignant lymphoma and Kaposi sarcoma are significant complications of human immunodeficiency virus (HIV) infection. However, following the introduction of antiretroviral therapy in Japan in 1997, the incidence of clinical complications has decreased. In the present study, autopsy cases of HIV infection in Japan were retrospectively investigated to reveal the prevalence of opportunistic infections and malignancies. METHODS: A total of 225 autopsy cases of HIV infection identified at 4 Japanese hospitals from 1985-2012 were retrospectively reviewed. Clinical data were collected from patient medical records. RESULTS: Mean CD4 counts of patients were 77.0 cells/µL in patients who received any antiretroviral therapy during their lives (ART (+) patients) and 39.6 cells/µL in naïve patients (ART (-) patients). Cytomegalovirus infection (142 cases, 63.1%) and pneumocystis pneumonia (66 cases, 29.3%) were the most frequent opportunistic infections, and their prevalence was significantly lower in ART (+) patients than ART (-) patients. Non-Hodgkin lymphoma and Kaposi sarcoma were observed in 30.1% and 16.2% of ART (-) patients, and 37.9% and 15.2% of ART (+) patients, respectively. Malignant lymphoma was the most frequent cause of death, followed by cytomegalovirus infection regardless of ART. Non-acquired immunodeficiency syndrome (AIDS)-defining cancers such as liver and lung cancer caused death more frequently in ART (+) patients (9.1%) than in ART (-) patients (1.5%; P = 0.026). CONCLUSIONS: The prevalence of infectious diseases and malignancies were revealed in autopsy cases of HIV infection in Japan. The prevalence of cytomegalovirus infection and pneumocystis pneumonia at autopsy were lower in ART (+) patients than ART (-) patients. Higher prevalence of non-AIDS defining malignancies among ART (+) patients than ART (-) patients suggests that onsets of various opportunistic infections and malignancies should be carefully monitored regardless of whether the patient is receiving ART.
Assuntos
Infecções Oportunistas Relacionadas com a AIDS/epidemiologia , Doenças Transmissíveis/epidemiologia , Infecções por HIV/epidemiologia , Neoplasias/epidemiologia , Neoplasias/virologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antirretrovirais/uso terapêutico , Autopsia/estatística & dados numéricos , Causas de Morte , Criança , Doenças Transmissíveis/complicações , Feminino , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Adulto JovemRESUMO
The diagnosis of non-cirrhotic portal hypertension (NCPH), a rare but potentially life-threatening complication in human immunodeficiency virus (HIV)-positive individuals, often occurs only after the emergence of fatal manifestations such as bleeding of esophageal varices. We herein report a female Japanese HIV patient who developed NCPH approximately 4 years after discontinuation of 65 months of didanosine (ddI) administration. The patient presented with severe ascites, bloody bowel discharge, extreme abdominal swelling, and symptoms of portal hypertension but no sign of liver cirrhosis. Examination revealed esophageal varices, oozing-like bleeding from a wide part of the colon, significant atrophy of the right lobe of the liver, and arterio-portal shunting and recanalization from the left medial segment branch of the portal vein to a paraumbilical vein, but no visible obstruction of the main trunk of the portal vein. Treatment for esophageal varices consisted of coagulation therapy with argon plasma after enforcement by endoscopic sclerotherapy and oral administration of ß-blockers for elevated portal blood pressure. The patient has not experienced gastrointestinal bleeding in the approximately 5 years since the diagnosis of NCPH. Reviewing this case suggests the importance of suspecting NCPH in HIV patients with liver dysfunction of unknown etiology with a history of ddI and other purine analogs use, as well as the importance of controlling portal hypertension and esophageal varices in the treatment of NCPH.
Assuntos
Antirretrovirais/efeitos adversos , Infecções por HIV/tratamento farmacológico , Infecções por HIV/fisiopatologia , Hipertensão Portal/diagnóstico , Hipertensão Portal/virologia , Cirrose Hepática/fisiopatologia , Cirrose Hepática/virologia , Adulto , Antirretrovirais/uso terapêutico , Didanosina/efeitos adversos , Didanosina/uso terapêutico , Feminino , HumanosRESUMO
A 69-year-old female, who had undergone oophorectomy for a left ovarian granulosa cell tumor (OGCT) in November 1999, was referred to our hospital due to rectal infiltration of the tumor detected during the initial surgery. The patient underwent low anterior resection, omentectomy and adnexectomy for the residual lesion at 1 month after the initial operation, and was followed up without postoperative adjuvant chemotherapy. In November 2010, abdominal computed tomography( CT) showed a soft tissue tumor on the surface of the liver. Meanwhile, a solitary nodule in S3 of the left lung was detected on chest CT. Laparotomy was done under suspicion of liver metastasis, but the lesion was revealed to be peritoneal dissemination at surgery. After subsequent 1-year follow-up, the enlargement of the pulmonary nodule was noted, and partial resection of the left lung was performed. The tumor was pathologically diagnosed as a metastasis of the OGCT.
Assuntos
Tumor de Células da Granulosa/patologia , Neoplasias Pulmonares/cirurgia , Idoso , Feminino , Humanos , Neoplasias Pulmonares/secundário , Imageamento por Ressonância Magnética , Imagem Multimodal , Fatores de Tempo , Tomografia Computadorizada por Raios XRESUMO
We report a case of a patient with resection margin involvement gastric carcinoma that recurred 5.5 years after additional resection. A 64-year-old man underwent distal gastrectomy for advanced gastric carcinoma (sig+por2, pSE, pN0, pStage IIB) in January 2008. A total gastrectomy was performed 2 months after the initial gastrectomy because of proximal resection line involvement, and curative resection was obtained. Adjuvant chemotherapy with S-1 was completed, and follow-up surveillance was finished 5 years after the additional surgery. In November 2013, the patient experienced bouts of vomiting, and a computed tomography (CT) scan showed an abdominal abscess that had spread to the liver and communicated with the intestine. Despite abscess drainage and antibiotic therapy, infection control was difficult and the patient died 20 days after hospitalization. An autopsy showed the recurrence lesions had diffusely spread to the peritoneum and was also disseminated around the Roux-Y jejunum. These findings suggest that peritoneal recurrence might lead to penetration of the intestine and abscess formation.
Assuntos
Neoplasias Gástricas , Abscesso Abdominal/tratamento farmacológico , Abscesso Abdominal/etiologia , Antibacterianos/uso terapêutico , Antimetabólitos Antineoplásicos/uso terapêutico , Quimioterapia Adjuvante , Drenagem , Combinação de Medicamentos , Evolução Fatal , Gastrectomia , Humanos , Masculino , Pessoa de Meia-Idade , Ácido Oxônico/uso terapêutico , Recidiva , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/patologia , Tegafur/uso terapêuticoRESUMO
HL7 FHIR is the standard for healthcare information exchange. In November 2022, our medication subgroup developed 8 profiles and 23 extensions for medication procedures in Japan, as part of the JP Core Implementation Guide 1.1. Our work demonstrates the ability of HL7 FHIR to describe Japanese prescription procedures while also addressing the requirements of other countries.
Assuntos
Prescrições , JapãoRESUMO
OBJECTIVE: While several studies reported epidermal growth factor receptor (EGFR) expression in salivary gland cancer (SGC), results varied due to a lack of unified definition of EGFR positivity. In this study, we assessed the EGFR expression level using both EGFR positive score and cumulative EGFR score in the patients with SGC. METHODS: Between January 2010 and April 2021, 102 patients with SGC who underwent surgical resection were reviewed retrospectively by immunohistochemistry. The membrane staining intensity was scored as follows: no staining (0), weak staining (1+), intermediate staining (2+), and strong staining (3+). The cumulative EGFR score was determined on a continuous scale of 0-300 using the formula:1 × (1+: percentage of weakly stained cells) + 2 × (2+: percentage of moderately stained cells) + 3 × (3+: percentage of strongly stained cells). RESULTS: EGFR expression in SGC varied widely even among the same as well as different histopathological types. The average EGFR positive scores were 46.0 %, 55.7 %, 51.6 %, 1.0 %, 26.8 %, 50 %, and 76.8 % for mucoepidermoid carcinoma (MEC), salivary duct carcinoma (SDC), adenoid cystic carcinoma (AdCC), acinic cell carcinoma (AcCC), adenocarcinoma NOS (ACNOS), carcinoma ex pleomorphic adenoma (CAexPA), and squamous cell carcinoma (SqCC), respectively. The average cumulative EGFR scores were 82, 91, 80, 1, 52, 93, and 185 for MEC, SDC, AdCC, AcCC, ACNOS, CAexPA, and SqCC, respectively. CONCLUSIONS: EGFR positive scores and cumulative EGFR scores in SGCs varied among the various histological types, and even in the same histological type. These scores may predict the clinical outcome of SGC treated with EGFR-targeting therapies, such as head and neck photoimmunotherapy, and need to be evaluated in future studies.
Assuntos
Adenoma Pleomorfo , Carcinoma Adenoide Cístico , Carcinoma Mucoepidermoide , Receptores ErbB , Neoplasias das Glândulas Salivares , Humanos , Receptores ErbB/metabolismo , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/metabolismo , Masculino , Feminino , Pessoa de Meia-Idade , Carcinoma Mucoepidermoide/patologia , Carcinoma Mucoepidermoide/metabolismo , Estudos Retrospectivos , Idoso , Carcinoma Adenoide Cístico/metabolismo , Carcinoma Adenoide Cístico/patologia , Adenoma Pleomorfo/patologia , Adenoma Pleomorfo/metabolismo , Adulto , Imuno-Histoquímica , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/cirurgia , Adulto Jovem , Carcinoma de Células Acinares/patologia , Carcinoma de Células Acinares/metabolismoRESUMO
Background: The study aims to explore MRI phenotypes that predict glioblastoma's (GBM) methylation status of the promoter region of MGMT gene (pMGMT) by qualitatively assessing contrast-enhanced T1-weighted intensity images. Methods: A total of 193 histologically and molecularly confirmed GBMs at the Kansai Network for Molecular Diagnosis of Central Nervous Tumors (KANSAI) were used as an exploratory cohort. From the Cancer Imaging Archive/Cancer Genome Atlas (TCGA) 93 patients were used as validation cohorts. "Thickened structure" was defined as the solid tumor component presenting circumferential extension or occupying >50% of the tumor volume. "Methylated contrast phenotype" was defined as indistinct enhancing circumferential border, heterogenous enhancement, or nodular enhancement. Inter-rater agreement was assessed, followed by an investigation of the relationship between radiological findings and pMGMT methylation status. Results: Fleiss's Kappa coefficient for "Thickened structure" was 0.68 for the exploratory and 0.55 for the validation cohort, and for "Methylated contrast phenotype," 0.30 and 0.39, respectively. The imaging feature, the presence of "Thickened structure" and absence of "Methylated contrast phenotype," was significantly predictive of pMGMT unmethylation both for the exploratory (pâ =â .015, odds ratioâ =â 2.44) and for the validation cohort (pâ =â .006, odds ratioâ =â 7.83). The sensitivities and specificities of the imaging feature, the presence of "Thickened structure," and the absence of "Methylated contrast phenotype" for predicting pMGMT unmethylation were 0.29 and 0.86 for the exploratory and 0.25 and 0.96 for the validation cohort. Conclusions: The present study showed that qualitative assessment of contrast-enhanced T1-weighted intensity images helps predict GBM's pMGMT methylation status.
RESUMO
This study aims to elucidate the clinical and molecular characteristics, treatment outcomes and prognostic factors of patients with histone H3 K27-mutant diffuse midline glioma. We retrospectively analyzed 93 patients with diffuse midline glioma (47 thalamus, 24 brainstem, 12 spinal cord and 10 other midline locations) treated at 24 affiliated hospitals in the Kansai Molecular Diagnosis Network for CNS Tumors. Considering the term "midline" areas, which had been confused in previous reports, we classified four midline locations based on previous reports and anatomical findings. Clinical and molecular characteristics of the study cohort included: age 4-78 years, female sex (41%), lower-grade histology (56%), preoperative Karnofsky performance status (KPS) scores ≥ 80 (49%), resection (36%), adjuvant radiation plus chemotherapy (83%), temozolomide therapy (76%), bevacizumab therapy (42%), HIST1H3B p.K27M mutation (2%), TERT promoter mutation (3%), MGMT promoter methylation (9%), BRAF p.V600E mutation (1%), FGFR1 mutation (14%) and EGFR mutation (3%). Median progression-free and overall survival time was 9.9 ± 1.0 (7.9-11.9, 95% CI) and 16.6 ± 1.4 (13.9-19.3, 95% CI) months, respectively. Female sex, preoperative KPS score ≥ 80, adjuvant radiation + temozolomide and radiation ≥ 50 Gy were associated with favorable prognosis. Female sex and preoperative KPS score ≥ 80 were identified as independent good prognostic factors. This study demonstrated the current state of clinical practice for patients with diffuse midline glioma and molecular analyses of diffuse midline glioma in real-world settings. Further investigation in a larger population would contribute to better understanding of the pathology of diffuse midline glioma.
Assuntos
Glioma , Histonas , Mutação , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Glioma/genética , Glioma/patologia , Glioma/terapia , Idoso , Adolescente , Estudos Retrospectivos , Adulto Jovem , Histonas/genética , Criança , Pré-Escolar , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/terapia , Estudos de Coortes , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/terapia , Neoplasias do Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/diagnósticoRESUMO
BACKGROUND: Neoadjuvant chemotherapy (NAC) has been attempted as a means of improving survival of potentially resectable advanced gastric cancer (AGC). In the course of exploring the most promising NAC regimen, a superior surrogate marker reflecting overall survival (OS) is necessary. We investigated prognostic factors in AGC patients who underwent NAC followed by gastric resection and evaluated whether histologic response to NAC was predictive of survival. METHODS: Seventy consecutive patients with gastric cancer treated with NAC followed by surgical resection between Jan 1, 2000, and Dec 31, 2009, at Osaka National Hospital were identified from a prospective database. Prognostic factors for OS were investigated by univariate and multivariate analyses. RESULTS: Median survival time for all patients was 668 days after surgical resection. Age less than 65 years (hazard ratio 0.463, 95% confidence interval 0.244-0.879) and pathologic nodal stage of N0-1 (hazard ratio 0.318, 95% confidence interval 0.160-0.635) were identified as significant independent prognostic factors for longer OS, whereas graded histologic response of primary tumor to NAC was statistically significant on univariate analysis, but not on multivariate analysis, as a prognostic factor. CONCLUSIONS: Posttherapy nodal status, not graded histologic response, predicts survival after NAC for AGC and could serve as a reliable surrogate marker for OS in the course of exploring the most promising regimen for NAC.
Assuntos
Adenocarcinoma/tratamento farmacológico , Adenocarcinoma/mortalidade , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Terapia Neoadjuvante/mortalidade , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/mortalidade , Adenocarcinoma/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Quimioterapia Adjuvante , Cisplatino/administração & dosagem , Terapia Combinada , Docetaxel , Feminino , Seguimentos , Gastrectomia , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Paclitaxel/administração & dosagem , Prognóstico , Estudos Prospectivos , Neoplasias Gástricas/cirurgia , Taxa de Sobrevida , Taxoides/administração & dosagem , Fatores de TempoRESUMO
We describe an extremely rare case of poorly differentiated neuroendocrine carcinoma arising from the seminal vesicle. A 67-year-old man presented with a left humeral bone tumor resulting in a pathological fracture. Positron emission tomography scan disclosed a large pelvic tumor mimicking prostatic cancer invading into the seminal vesicle. Laboratory data showed an elevation of neuron-specific enolase, despite the normal prostate-specific antigen. Transrectal needle biopsy showed a poorly differentiated carcinoma of the right seminal vesicle and the metastasis of the pelvic lymph node. Immunohistochemical results were compatible with the features of neuroendocrine carcinoma; synaptophysin, chromogranin A and CD 56 were positive. The previously biopsied bone tumor was finally diagnosed as a metastasis. A systemic chemotherapy using etoposide and cisplatin failed. The patient died of cancer one-and-a-half years later.
Assuntos
Neoplasias Ósseas/secundário , Carcinoma Neuroendócrino/secundário , Neoplasias dos Genitais Masculinos/patologia , Glândulas Seminais/patologia , Idoso , Biópsia por Agulha , Carcinoma Neuroendócrino/diagnóstico por imagem , Diferenciação Celular , Evolução Fatal , Neoplasias dos Genitais Masculinos/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , RadiografiaRESUMO
We report a surgical case of MNT, which is a rare type of thymoma. A 56-year-old man was referred to our hospital for examination of a mass in the anterior mediastinum. The computed tomography (CT) scan showed a lobulated mass with relatively smooth margins. Also, contrast study indicated homogeneous enhancement. Since these findings suggested the possibility of thymoma, the patient underwent thymothymomectomy. Histological findings showed short spindleshaped tumor cells forming nests of various sizes, and lymphoid stroma with lymphoid follicles. The pathological diagnosis was MNT. The long-term outcome after resection of MNT currently remains unclear, and accumulation of further cases is required.
Assuntos
Tecido Linfoide/patologia , Células Estromais/patologia , Timoma/patologia , Neoplasias do Timo/patologia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: The clinical significance of preoperative chemotherapy, including trastuzumab for HER2-positive breast cancer, was examined based on hormone receptors(HR)to clarify future issues. SUBJECTS: 104 HER2-positive breast cancer patients who completed preoperative chemotherapy and underwent surgery from May 2005 to August 2010. All patients received sequential treatment with taxane±trastuzumab for FEC(5-FU+epirubicin+cyclophosphamide)therapy, and from 2008 they received trastuzumab postoperatively for one year. RESULTS: Concerning the histological effects, the rate of comprehensive pCR(CpCR)in the 104 patients(31 HR-negative administered trastuzumab, 15 HR-negative not administered trastuzumab, 28 HR-positive administered trastuzumab, 30 HR-positive not administered trastuzumab)was 65%, 47%, 21% and 23% for each group, respectively CpCR was a significant factor(p<0. 05)in prolonged distant disease-free survival(DDFS)in the HR-negative group. Distant metastasis occurred in 14 patients, namely, brain metastasis in 7 patients(4 HR-negative administered trastuzumab, 1 HR-negative not administered trastuzumab, 2 HR-positive administered trastuzumab). The therapeutic efficacy was pINV in 5 of these 7 patients(3HR-negative administered trastuzumab, 1 HR-negative not administered trastuzumab, 1 HR-positive administered trastuzumab), and 4 of those 5 patients received trastuzumab postoperatively. DISCUSSION: The responsiveness to preoperative chemotherapy including trastuzumab for HER2-positive breast cancer differs between HR-positive and HR-negative. pINV patients seem to be at a high risk for brain metastasis regardless of HR, and it may be difficult to suppress its occurrence only with trastuzumab adjuvant therapy.
Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Adulto , Idoso , Neoplasias da Mama/química , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/cirurgia , Terapia Combinada , Feminino , Humanos , Pessoa de Meia-Idade , Prognóstico , Receptor ErbB-2/análise , Recidiva , Estudos Retrospectivos , TrastuzumabRESUMO
Despite recent signs of progress in diagnostic radiology, it is quite rare that a glioblastoma (GBM) is detected asymptomatically. We describe two patients with asymptomatic nonenhancing GBMs that were not diagnosed with neoplasia at first. The patients had brain scans as medical checkups, and incidentally lesions were detected. In both cases, surgical specimens histopathologically showed no evidence of neoplasia, whereas molecular genetic findings were isocitrate dehydrogenase (IDH)-wildtype, O6-methylguanine-DNA methyltransferase promoter (pMGMT) unmethylated, and telomerase reverse transcriptase (TERT) promoter mutated, which matched to GBM. One patient was observed without adjuvant therapy and the tumor recurred 7 months later. Reoperation was performed, and histopathologically GBM was confirmed with the same molecular diagnosis as the first surgical specimen. Another patient was carefully observed, and chemoradiotherapy was begun 6 months after the operation following the extension of the lesion. Eventually, because of disease progression, both patients deceased. We postulate that in each case, the tumor was not lower-grade glioma but corresponded to the early growth phase of GBM cells. Thus far, cases of malignant transformation from lower-grade glioma or asymptomatic GBM with typical histologic features are reported. Nevertheless, to the best of our knowledge, no such case of nonenhancing, nonhistologically confirmed GBM was reported. We conjecture these cases shed light on the yet unknown natural history of GBM. GBM can take the form of radiological nonenhancing and histological nonneoplastic fashion before typical morphology. Molecular genetic analysis can diagnose atypical preceding GBM, and we recommend early surgical removal and adjuvant treatment.
RESUMO
This case report concerns a 72-year-old-female with severe functional tricuspid stenosis due to phosphoglyceride crystal deposition disease and a history of atrial septum closure and tricuspid valvuloplasty. Phosphoglyceride crystal deposition disease is extremely rare, and percutaneous transcatheter biopsy under intracardiac echocardiographic guidance proved to be useful for its diagnosis. (Level of Difficulty: Advanced.).