RESUMEN
Contiguous ABCD1 DXS1357E deletion syndrome (CADDS) is a contiguous deletion syndrome involving the ABCD1 and DXS1357E/BAP31 genes on Xq28. Although ABCD1 is responsible for X-linked adrenoleukodystrophy (X-ALD), its phenotype differs from that of CADDS, which manifests with many features of Zellweger syndrome (ZS), including severe growth and developmental retardation, liver dysfunction, cholestasis and early infantile death. We report here the fourth case of CADDS, in which a boy had dysmorphic features, including a flat orbital edge, hypoplastic nose, micrognathia, inguinal hernia, micropenis, cryptorchidism and club feet, all of which are shared by ZS. The patient achieved no developmental milestones and died of pneumonia at 8 months. Biochemical studies demonstrated abnormal metabolism of very long chain fatty acids, which was higher than that seen in X-ALD. Immunocytochemistry and Western blot showed the absence of ALD protein (ALDP) despite the presence of other peroxisomal proteins. Pathological studies disclosed a small brain with hypomyelination and secondary hypoxic-ischemic changes. Neuronal heterotopia in the white matter and leptomeningeal glioneuronal heterotopia indicated a neuronal migration disorder. The liver showed fibrosis and cholestasis. The thymus and adrenal glands were hypoplastic. Array comparative genomic hybridization (CGH) analysis suggested that the deletion was a genomic rearrangement in the 90-kb span starting in DXS1357E/BACP31 exon 4 and included ABCD1, PLXNB3, SRPK3, IDH3G and SSR4, ending in PDZD4 exon 8. Thus, the absence of ALDP, when combined with defects in the B-cell antigen receptor associated protein 31 (BAP31) and other factors, severely affects VLCFA metabolism on peroxisomal functions and produces ZS-like pathology.
Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Eliminación de Gen , Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP , Autopsia , Encéfalo/patología , ADN/genética , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/genética , Distonía/etiología , Resultado Fatal , Humanos , Lactante , Masculino , Análisis por Micromatrices , Hibridación de Ácido Nucleico , Fenotipo , Reacción en Cadena de la Polimerasa , SíndromeRESUMEN
IgG4-related systemic disease encompasses multi-organ disorders, including tubulointerstitial nephritis. This disease is accompanied by a high serum IgG4 concentration and IgG4-positive plasma cell infiltration. We herein describe a 63-year-old woman with renal failure and dryness of the eyes and mouth, who had been treated with antituberculosis agents for urinary tract tuberculosis. She had a negative finding for a PCR analysis for Mycobacterium tuberculosis, a positive QuantiFERON-TB test, high serum IgG4 concentrations (2,660 mg/dl), and low serum IgM and IgA concentrations (34 and 82 mg/dl, respectively). Imaging tests revealed swelling in the submandibular glands, pancreas, and right kidney. A renal biopsy showed IgG4-positive plasma cell infiltration in the interstitium and tubular atrophy. This case was diagnosed as IgG4-related systemic disease. Corticosteroid therapy improved renal failure and swelling in the submandibular glands, pancreas, and right kidney. The case suggests that an abnormal reaction to tuberculosis may be associated with a predominance of type-2 helper T-cell immunity, thus resulting in IgG4-related systemic disease.
Asunto(s)
Enfermedades Autoinmunes/complicaciones , Hidronefrosis/complicaciones , Inmunoglobulina G/inmunología , Nefritis Intersticial/complicaciones , Insuficiencia Renal/complicaciones , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/patología , Femenino , Humanos , Hidronefrosis/inmunología , Hidronefrosis/patología , Riñón/inmunología , Riñón/patología , Persona de Mediana Edad , Nefritis Intersticial/inmunología , Nefritis Intersticial/patología , Insuficiencia Renal/inmunología , Insuficiencia Renal/patología , Tuberculosis/complicaciones , Tuberculosis/patología , Infecciones Urinarias/complicaciones , Infecciones Urinarias/patologíaRESUMEN
A 26-year-old man presented at our hospital in 2008 to undergo detailed investigations as part of a routine health examination. Chest computed tomography (CT) showed linear and reticular opacities with, in part, diffuse calcification in the lung fields bilaterally. A surgical lung biopsy was performed and the histological findings were compatible with a diagnosis of diffuse pulmonary ossification (DPO) of the dendriform type. DPO usually occurs as a secondary disease. As the histological changes in interstitial fibrosis were minimal rather than diffuse and not significant enough to be regarded as interstitial pneumonia, we considered this to be an idiopathic case. However, the findings appear to suggest that inflammation and fibrosis were associated with ossification.
Asunto(s)
Enfermedades Asintomáticas , Enfermedades Pulmonares/diagnóstico por imagen , Osificación Heterotópica/diagnóstico por imagen , Examen Físico , Adulto , Humanos , Enfermedades Pulmonares/complicaciones , Masculino , Osificación Heterotópica/complicaciones , Examen Físico/métodos , RadiografíaRESUMEN
We report on a 68-year-old male with a multistation mediastinal lymph node adenocarcinoma, who had no primary lesions occurring within 48 months. After diagnosis by lymph node biopsy via right-sided thoracoscopy, the bilateral mediastinal lymphadenopathy responded to platinum-based chemotherapy. At 30 months after completion of chemotherapy, left mediastinal lymphadenopathy recurred. Left anterior mediastinal dissection via left-sided thoracoscopy was successful. After surgery, the patient did well with no primary lesions for more than a year. The etiology of mediastinal lymph node carcinoma of unknown origin is discussed.
Asunto(s)
Adenocarcinoma/terapia , Escisión del Ganglio Linfático , Ganglios Linfáticos/efectos de los fármacos , Ganglios Linfáticos/cirugía , Neoplasias Primarias Desconocidas/terapia , Adenocarcinoma/química , Adenocarcinoma/secundario , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biomarcadores de Tumor/análisis , Biopsia , Quimioterapia Adyuvante , Cisplatino/administración & dosificación , Humanos , Inmunohistoquímica , Escisión del Ganglio Linfático/métodos , Ganglios Linfáticos/química , Ganglios Linfáticos/patología , Metástasis Linfática , Masculino , Imagen Multimodal , Neoplasias Primarias Desconocidas/química , Neoplasias Primarias Desconocidas/patología , Paclitaxel/administración & dosificación , Tomografía de Emisión de Positrones , Recurrencia , Reoperación , Toracoscopía , Factores de Tiempo , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
A 62-year-old man was admitted to our hospital with a 2-month history of progressive cough and dyspnea. He had undergone thymectomy for thymoma with myasthenia gravis. Adjuvant radiation of 50 Gy had been performed until 6 months before the symptoms developed. Chest computed tomography showed infiltrative findings even outside the irradiated area. We diagnosed radiation-related pneumonia, and 30 mg per day prednisolone was initiated. On the final day, he developed bilateral tension pneumothorax. After chest tube drainage, the right S5 bulla was resected with video-assisted thoracoscopic surgery (VATS). The right pneumothorax caused the bilateral tension pneumothorax, because the right and left thoracic cavity communicated in the anterior mediastinum after thymectomy. We should be aware of the risk of bilateral tension pneumothorax following radiation-related pneumonia after extended thymectomy and adjuvant radiation in patients with myasthenia gravis.
Asunto(s)
Miastenia Gravis/terapia , Neumotórax/etiología , Neumonitis por Radiación/etiología , Radioterapia Adyuvante/efectos adversos , Timectomía/efectos adversos , Timoma/terapia , Neoplasias del Timo/terapia , Humanos , Masculino , Persona de Mediana Edad , Complicaciones PosoperatoriasRESUMEN
Secondary resistance of gastrointestinal stromal tumors (GISTs) to tyrosine kinase inhibitors occurs after several years' administration. However, the mechanism of resistance has not been fully clarified. In this study, we analyzed the genotypes and the histologic and immunohistochemical phenotypes of metastatic GISTs with and without imatinib treatment, and clarified the pleomorphic nature of metastatic GISTs. We examined 31 autopsy cases in which the patients died of multiple metastases of GISTs, and two surgically resected specimens with and without imatinib treatment. A total of 152 primary and metastatic lesions in 33 cases of GISTs were examined for histologic and immunohistochemical expression of KIT and CD34. We analyzed the expression of other receptor tyrosine kinases (RTKs) in KIT-negative lesions, including human EGFR-related 2 (HER2), epidermal growth factor receptor (EGFR), hepatocyte growth factor receptor (MET), platelet-derived growth factor receptor-alpha (PDGFRA), and platelet-derived growth factor receptor-beta (PDGFRB). Fifteen lesions in seven cases (9.9%) lacked KIT expression, and 74 (49%) in 22 cases lacked CD34 expression. Eight KIT-negative lesions in five cases expressed PDGFRB, one of which also expressed EGFR, and three lesions in one case expressed MET. Results for the other RTKs were negative. Missense point mutations at PDGFRB gene exon 12 were detected in one PDGFRB-positive case. Our results indicate that histomorphology, immunohistochemical phenotypes, and genotypes of metastatic GISTs vary among lesions, even in cases without imatinib treatment. A KIT-independent mechanism, such as activation of other RTKs, might participate in the proliferation of late-stage GISTs and might be a cause of secondary imatinib resistance.
Asunto(s)
Antineoplásicos/uso terapéutico , Tumores del Estroma Gastrointestinal/tratamiento farmacológico , Piperazinas/uso terapéutico , Pirimidinas/uso terapéutico , Adulto , Anciano , Antígenos CD34/análisis , Benzamidas , Receptores ErbB/genética , Femenino , Tumores del Estroma Gastrointestinal/genética , Tumores del Estroma Gastrointestinal/patología , Humanos , Mesilato de Imatinib , Masculino , Persona de Mediana Edad , Proteínas Proto-Oncogénicas c-kit/análisis , Proteínas Proto-Oncogénicas c-kit/genética , Receptor beta de Factor de Crecimiento Derivado de Plaquetas/genéticaRESUMEN
Large cell neuroendocrine carcinoma (LCNEC) and small cell lung carcinoma (SCLC) are high-grade neuroendocrine carcinomas. In order to clarify the similarities and differences between these cancers, 22 cases each of LCNEC and SCLC were collected and a comparative pathological study was carried out. First, their clinicopathological characteristics were confirmed, which were very similar to those previously reported. The 5 year survival rate of LCNEC and SCLC patients was 38.3% and 29.7%, respectively. The morphological characteristics of LCNEC and SCLC were then reviewed with regard to the morphology previously used to differentiate these cancers. As a result, many morphological indicators, such as tumor cell size, nuclear/cytoplasmic ratio, nuclear molding, rosette formation, prominent nucleoli and karyolysis were confirmed to be significant indicators for distinguishing LCNEC from SCLC. On comparative immunohistochemistry, LCNEC had significantly high staining scores for the expression of keratin 7 and 18, E- and P-cadherins, beta-catenin, villin 1, retinoblastoma protein (pRB), c-met and alpha-enolase. These results might reflect the differentiation or deviation of LCNEC toward an epithelial nature irrespective of neuroendocrine tumor lineage. In conclusion, the present comparative study of LCNEC and SCLC defined the similarities and differences between these cancers, and showed the biologically and clinicopathologically overlapping spectrum of the tumor lineage.
Asunto(s)
Carcinoma de Células Grandes/patología , Carcinoma Neuroendocrino/patología , Carcinoma de Células Pequeñas/patología , Neoplasias Pulmonares/patología , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Carcinoma de Células Grandes/metabolismo , Carcinoma de Células Grandes/mortalidad , Carcinoma Neuroendocrino/metabolismo , Carcinoma Neuroendocrino/mortalidad , Carcinoma de Células Pequeñas/metabolismo , Carcinoma de Células Pequeñas/mortalidad , Femenino , Humanos , Inmunohistoquímica , Estimación de Kaplan-Meier , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/mortalidad , Masculino , Persona de Mediana Edad , Estadificación de NeoplasiasRESUMEN
A 57-year-old man presented with shortness of breath of four months duration which had recently become worse. A chest X-ray and computed tomography (CT) showed diffuse ground-glass opacities of the bilateral lower lungs suggesting interstitial pneumonia. The number of eosinophils was increased in the bronchoalveolar lavage fluid (BALF) (52%) and peripheral blood. A histological examination of the specimen obtained by TBLB revealed organized pneumonia with slight infiltration of inflammatory cell. Because the images were not typical of chronic eosinophilic pneumonia, video-assisted thoracic surgery biopsy was performed. The histological findings of the resected specimen showed organizing pneumonia with infiltration of eosinophils in the alveolar walls. He had not taken any medication prior to coming to the hospital and he was negative for medicine-related pneumonia. The oral administration of prednisolone (0.5 mg/kg) improved his symptoms and also CT findings.
Asunto(s)
Neumonía en Organización Criptogénica/patología , Eosinófilos/patología , Enfermedades Pulmonares Intersticiales/diagnóstico , Diagnóstico Diferencial , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Biopsy by video-assisted thoracoscopic surgery (VATS) for interstitial pneumonia allows collection of samples sufficient for accurate histologic diagnosis. Although VATS is relatively safe, several reports have suggested that surgical lung biopsy may be a risk factor for acute exacerbation of idiopathic pulmonary fibrosis (IPF). We retrospectively reviewed data on the 113 cases that underwent biopsy by VATS to diagnose diffuse parenchymal lung disease in our department between 1994 and 2006, and analyzed its complications, in particular, risk of acute exacerbation of IPF. As the final diagnosis, idiopathic interstitial pneumonia was most frequent, involving 52 cases, of which IPF was most frequently found followed by nonspecific interstitial pneumonia and cryptogenic organizing pneumonia, in that order. Among our cases, there were 2 deaths after VATS (mortality rate, 1.8%), and both were IPF cases with acute exacerbation. When examining clinical markers in the 2 fatal IPF cases with acute exacerbation, we found that the percentage of predicted forced vital capacity was 55 or lower, percentage of predicted carbon monoxide diffusing capacity was 40 or lower, serum interstitial pneumonia markers KL-6 and SP-D were elevated, intraoperative inhalation of 100% O2 was 80 minutes or longer, and postoperative thoracic drainage was required for 10 days or longer. Although acute exacerbations of IPF seem to occur at any time during the course of disease, it is important to be aware of the possibility of acute exacerbation of IPF after VATS.
RESUMEN
We describe a 30-year-old man in whom upper endoscopy revealed multiple gastric carcinoids. The peripheral blood gastrin level was 2400 ng/ml (normal range, <200 ng/ml). Mucosal biopsy of the gastric body and fundus showed no atrophy; typical type A chronic atrophic gastritis was thus unlikely. Neither abdominal computed tomography nor selective angiography showed any evidence of tumor in the pancreas or at its periphery. However, the possibility of microgastrinoma could not be ruled out. We performed radioguided surgery with a somatostatin analog, diethylenetriamine pentaacetic acid-D-Phe1-octreotide labeled with (111)In (Octreo Scan). The location of the carcinoids was confirmed. Gastrinoma was ruled out. Total gastrectomy was performed, and the gastrin level decreased to the normal range. Macroscopically, 20 carcinoid tumors, measuring 30 mm in maximum diameter, were confirmed. Microscopic examination showed large numbers of endocrine cell micronests. Hyperplasia of parietal cells was observed, suggesting early-stage type A chronic atrophic gastritis. The antrum contained increased numbers of gastrin-positive cells, which probably caused the preoperative hypergastrinemia.
Asunto(s)
Tumor Carcinoide/diagnóstico , Células Parietales Gástricas/patología , Radiofármacos , Somatostatina/análogos & derivados , Neoplasias Gástricas/diagnóstico , Adulto , Tumor Carcinoide/etiología , Tumor Carcinoide/cirugía , Gastrectomía/métodos , Gastrinas/sangre , Gastritis Atrófica/complicaciones , Gastritis Atrófica/patología , Gastritis Atrófica/cirugía , Humanos , Hiperplasia , Masculino , Neoplasias Gástricas/etiología , Neoplasias Gástricas/cirugía , Cirugía Asistida por Computador/métodosRESUMEN
A 44-year-old woman who had undergone hystero-oophorectomy for uterine sarcoma presented to our hospital with palindromic pneumothorax and her chest CT revealed multiple cystic lesions. After admission video-assisted thoracoscopic surgery (VATS) showed the pulmonary lesions to be primarily leiomyoma, however, further examination revealed that her uterine sarcoma resected in 2000 exhibited not only mitosis but also venous invasion. We therefore considered her lung tumors as metastases from uterine leiomyosarcoma. Cases of secondary spontaneous pneumothorax (SSP) due to pulmonary metastases are rare and almost half are from mesenchymal tumors. Thin-wall cavities and cysts are formed by a check-valve mechanism in the process of pulmonary metastases formation. When multiple thin-wall cavities and cysts are found in the lung, pulmonary metastases should be considered as one of the causes, and pathological specimens obtained in past illness should be re-examined in detail.
Asunto(s)
Leiomiosarcoma/secundario , Neoplasias Pulmonares/secundario , Neumotórax/etiología , Neoplasias Uterinas/patología , Adulto , Biomarcadores de Tumor/análisis , Diagnóstico Diferencial , Femenino , Humanos , Leiomiosarcoma/complicaciones , Leiomiosarcoma/diagnóstico , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/diagnóstico , Neumonectomía , Neumotórax/cirugía , Cirugía Torácica Asistida por Video , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND AND OBJECTIVE: IPF is an independent risk factor for lung cancer, but the mechanism of this association has not fully been elucidated. The role of Torque teno virus (TTV) in respiratory disease is poorly understood, although it has been shown that infection with TTV is associated with the activity and prognosis of IPF. This study aimed to investigate the prevalence and titre of TTV DNA among patients with IPF and lung cancer. METHODS: The presence of TTV DNA was determined by PCR in the sera of patients with both lung cancer and IPF (n = 22), patients with IPF only (n = 35), and patients with lung cancer only (n = 142). RESULTS: TTV DNA was detectable in all patients with both IPF and lung cancer, in 94.3% of the patients with IPF only and 97.2% of the patients with lung cancer only. The TTV DNA titre in the patients with IPF and lung cancer was significantly higher than that in the patients with IPF only or lung cancer only. The percentage of TTV-positive patients with a high TTV titre in the IPF and lung cancer group was significantly higher than that in the IPF only group. CONCLUSIONS: These findings are the first report on the association between TTV and the complication of lung cancer in IPF and suggest that TTV infection might be associated with the development of lung cancer in IPF.
Asunto(s)
ADN Viral/sangre , Neoplasias Pulmonares/sangre , Neoplasias Pulmonares/microbiología , Fibrosis Pulmonar/sangre , Fibrosis Pulmonar/microbiología , Torque teno virus , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Infecciones por Virus ADN/complicaciones , Humanos , Neoplasias Pulmonares/patología , Persona de Mediana Edad , Fibrosis Pulmonar/patología , Factores de Riesgo , Carga ViralRESUMEN
We reported a case of Sjögren's syndrome with pulmonary involvement diagnosed by video-assisted thoracoscopic lung biopsy. The patient was a 54-year-old woman with antiphospholipid syndrome. Her chest radiograph and CT scan showed multiple nodules with or within cystic lesions. The thoracoscopic lung biopsy specimens revealed nodular amyloid deposits associated with bronchiolitis. The mechanism of bulla formation appeared to be a check-valve mechanism caused by the narrowing of the airway due to bronchiolitis with mononuclear cell infiltration. She has no symptoms without respiratory failure or functional impairment, therefore we are following her closely without therapy.
Asunto(s)
Amiloidosis/complicaciones , Amiloidosis/patología , Vesícula/patología , Enfermedades Pulmonares/complicaciones , Enfermedades Pulmonares/patología , Síndrome de Sjögren/complicaciones , Femenino , Humanos , Persona de Mediana EdadAsunto(s)
Neumonía en Organización Criptogénica/etiología , Poliarteritis Nudosa/complicaciones , Poliarteritis Nudosa/diagnóstico , Anciano , Neumonía en Organización Criptogénica/diagnóstico , Neumonía en Organización Criptogénica/tratamiento farmacológico , Esquema de Medicación , Humanos , Poliarteritis Nudosa/patología , Prednisolona/administración & dosificación , RecurrenciaRESUMEN
A 54-year-old woman had been given a diagnosis with scleroderma and interstitial pneumonia due to scleroderma when she was 45 years old. Thirst, with resulting polydipsia and polyuria (about 7 liters/day) were present since May, 2004, and bloody sputum appeared in June of 2004. The patient was admitted to our hospital. Chest CT examination showed multiple nodules in the bilateral lower lung field and multiple movable subcutaneous nodules on the abdomen. Small-cell lung cancer (metastases in the pituitary, subcutaneous tissue, and lungs) was diagnosed by transbronchial lung biopsy and subcutaneous nodule biopsy of the abdomen. The final diagnosis was diabetes insipidus and Cushing syndrome. Chemotherapy was done with CDDP and VP-16, which resulted in reduction of the tumor and improvement in endocrinological findings. Nevertheless, chemotherapy could not be continued because of infected bullae. The patient died of deteriorating illness after 91 sickness days. We concluded that this case was Cushing syndrome caused by ectopic adrenocorticotropic hormone-producing small cell lung cancer, and that it presented with diabetes insipidus because of pituitary metastasis. Therefore, when drastic endocrinological changes are found, it is important to examine for cancer, including lung cancer, as soon as possible.
Asunto(s)
Síndrome de ACTH Ectópico/etiología , Carcinoma de Células Pequeñas/complicaciones , Síndrome de Cushing/etiología , Diabetes Insípida Neurogénica/etiología , Neoplasias Pulmonares/complicaciones , Carcinoma de Células Pequeñas/diagnóstico , Carcinoma de Células Pequeñas/secundario , Resultado Fatal , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patología , Persona de Mediana Edad , Neoplasias Hipofisarias/secundarioRESUMEN
A 60-year-old female was admitted to our hospital for further examination of heart murmur. Chest radiography revealed cardiomegaly and pulmonary congestion. Two-dimensional echocardiography showed a mobile and pedunculated mass, approximately 20 mm in diameter, attached to the right ventricular outflow tract, and perimembranous ventricular septal defect. Cardiac catheterization and blood sampling were performed, which showed a pulmonary to systemic flow ratio of 3.70. She underwent surgical excision of the tumor, ventricular septal defect patch suture and tricuspid annuloplasty. Histological examination confirmed papillary fibroelastoma. The predominant location of papillary fibroelastoma is the valvular surface. This very rare case of papillary fibroelastoma was located in the right ventricular outflow tract.
Asunto(s)
Ecocardiografía Transesofágica , Fibroma/cirugía , Neoplasias Cardíacas/cirugía , Procedimientos Quirúrgicos Cardíacos/métodos , Femenino , Fibroma/diagnóstico por imagen , Fibroma/etiología , Neoplasias Cardíacas/diagnóstico por imagen , Neoplasias Cardíacas/etiología , Defectos del Tabique Interventricular/complicaciones , Defectos del Tabique Interventricular/cirugía , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Persona de Mediana EdadRESUMEN
Vascular intimal carcinomatosis refers to a characteristic tumor proliferation on vascular intima that replaces normal endothelium. This pathological event of unknown cause is quite different from tumor thrombotic microangiopathy due to the absence of thrombi on the tumor cell surfaces. We analyzed renal transitional cell carcinoma cases with metastasis to the main pulmonary arteries and marked hyperfibrino(geno)lysis. The fibrinogen-derived products from patients' plasma were identified as D1A/gamma, D1/gamma, and D1/beta by immunoblotting with the NH2-terminus of the fragment D specific antibody JIF-23. In all cases, the neoplastic cells with vascular intimal carcinomatosis were stained positive for anti-human annexin 2, which is a unique cell surface co-receptor for plasminogen and tissue-type plasminogen activator. In contrast, normal renal pelvic mucosa or renal transitional cell carcinoma without vascular intimal carcinomatosis did not express any annexin 2. The isolated transitional cell carcinoma cells contained annexin 2 mRNA and expressed its protein. Anti-annexin 2 antibody and transfection of annexin 2 small interfering RNA into these carcinoma cells significantly inhibited tissue-type plasminogen activator dependent plasmin generation. These findings suggest that annexin 2 mediated fibrinolysis on the transitional cell carcinoma cells may play a role in inducing hemorrhagic disorder in vascular intimal carcinomatosis.
Asunto(s)
Anexina A2/análisis , Carcinoma de Células Transicionales/patología , Hemorragia/etiología , Túnica Íntima/patología , Neoplasias Vasculares/complicaciones , Adulto , Anexina A2/genética , Femenino , Fibrinolisina/biosíntesis , Fibrinólisis , Humanos , Neoplasias Renales/patología , Masculino , Persona de Mediana Edad , Proteínas de Neoplasias/análisis , Arteria Pulmonar/patología , ARN Mensajero/análisis , Activador de Tejido Plasminógeno , Neoplasias Vasculares/química , Neoplasias Vasculares/secundarioRESUMEN
A 38-year-old-man was admitted to our hospital complaining of exertional dyspnea. Chest radiography and CT showed a huge mass that completely occluded the left main pulmonary artery and spread into the right main pulmonary artery. The tumor was diagnosed as sarcoma by transbronchial biopsy. Radiation therapy obtained temporary partial response. He died of respiratory insufficiency after 14 months. The autopsy revealed primary pulmonary artery sarcoma: fibrosarcoma arising from the left pulmonary artery. To our knowledge, this is the first case report of fibrosarcoma of the pulmonary artery in Japan.
Asunto(s)
Fibrosarcoma/etiología , Arteria Pulmonar , Neoplasias Vasculares/etiología , Adulto , Fibrosarcoma/epidemiología , Fibrosarcoma/patología , Humanos , Japón/epidemiología , Masculino , Neoplasias Vasculares/epidemiología , Neoplasias Vasculares/patologíaRESUMEN
We reported an autopsy case of a 58-year-old-man, who developed intractable organizing pneumonia accompanying myelodysplastic syndrome with neutrophil hypofunction. Slight clinical improvement was obtained by steroid pulse therapy, but re-exacerbation occurred during steroid tapering. Infection was suspected, and we administered antibiotics and antifungal agents, while holding steroid administration. However, both the clinical findings and images deteriorated. By both steroid and cyclosporine treatment, a slight improvement was temporarily obtained, but he died. The findings of lung tissue on autopsy showed extensive old and new organized pneumonia, and, as for the etiology of the intractable pneumonia, the likelihood of the lung infectious disease was considered most likely. In addition, invasive pulmonary aspergillosis led directly to death.
Asunto(s)
Enfermedades Pulmonares Intersticiales/patología , Síndromes Mielodisplásicos/patología , Fosfatasa Alcalina/metabolismo , Aspergilosis/etiología , Aspergilosis/patología , Humanos , Enfermedades Pulmonares Fúngicas/etiología , Enfermedades Pulmonares Fúngicas/patología , Enfermedades Pulmonares Intersticiales/etiología , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/clasificación , Neutrófilos/enzimologíaRESUMEN
We report a case of intrathoracic desmoid tumor without familial adenomatous polyposis and demonstrate beta-catenin mutation of exon 3. A 15-year-old male presented with a desmoid tumor after having sustained an assault. In an examination for a mutation of the beta-catenin gene, an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found. Immunohistochemical staining showed that accumulated beta-catenin protein was predominantly localized in the nuclei of desmoid cells, and cyclin D1 protein was also overexpressed. These findings might suggest that an activating mutation of the beta-catenin gene affected regulation of the cyclin D1 gene, resulting in the generation of intrathoracic sporadic desmoid tumor, which arose at the site of posttraumatic injury.