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BACKGROUND: Mixed acinar-neuroendocrine carcinoma (MANEC) of the pancreas is a rare tumor. We report a case of successful surgical resection of expansively growing MANEC of the pancreas with microsatellite instability (MSI)-high. CASE PRESENTATION: The patient was an asymptomatic 65-year-old male. A computed tomography (CT) scan for a follow-up after treatment of pneumonia incidentally revealed a hypoenhancing 12-cm expansively growing tumor in the pancreatic body. An endoscopic ultrasound-guided fine-needle aspiration of the tumor suggested the diagnosis of MANEC. We performed distal pancreatectomy with combined resection of the spleen, left adrenal gland, transverse colon, small bowel, and stomach. The intraoperative findings showed that the tumor was capsular and was in contact with the SMA, SMV, and CA; however, obvious infiltration of these vessels was not observed..Pathological findings indicated MANEC with MSI-high. Among mismatch repair (MMR) gene proteins, PMS2 was lost and MLH1, MSH2, and MSH6 were retained. The tumor recurred 5 months after surgery. The patient was treated with gemcitabine plus nab-paclitaxel followed by pembrolizumab, which did not show objective response. DISCUSSION: This is the first report investigating MSI and MMR in MANEC. Standard chemotherapy has not been established for MANEC. Detection of MSI-high is essential since PD-1 monoclonal antibodies for MSI-high cases might be one of the good treatment options. Herein, we discuss the various cytomorphologic and clinical features of MANEC and present a brief review of the literatures. CONCLUSIONS: The accumulation of data from additional cases is necessary to further evaluate this type of carcinoma and provide a standardized optimal therapy for MANEC.
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Serum Krebs von den Lungen-6 (KL-6) is clinically used for the diagnosis of interstitial pneumonia (IP) as well as the evaluation of its disease activity. A female patient was diagnosed with idiopathic IP when she was 62 years old. Four years later, serum levels of KL-6 had been elevated gradually from 2400-3821 U/ml, and she was found to have gallbladder cancer detected by contrast-enhanced computed tomography (CT) and 18F-fluorodeoxyglucose (FDG)-positron emission tomography (PET)/CT. She thus underwent a radical extended cholecystectomy. After the operation, serum levels of KL-6 showed a steep decline to 590 U/ml. Immunohistological examination revealed that KL-6 presented in gallbladder cancer cells. Taken together, serum KL-6 was shown to be produced by gallbladder cancer cells. Here, we present the first patient in whom increased serum KL-6 levels led to the diagnosis of gallbladder cancer during follow-up of IP. When serum levels of KL-6 are elevated during the follow-up care of IP despite no worsening of IP, an examination of the whole body should be performed to find possibly existing malignant tumors.
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Mucin-producing urothelial-type adenocarcinoma of the prostate (MPUAP) is a very rare disease. MPUAP has been reported to progress faster than the rate at which normal prostate cancer progresses. We report a case of MPUAP with long-term survival. The patient was a 65-year-old man. Computed tomography and magnetic resonance imaging showed a cystic lesion extending from the prostate to the urethra. We performed transrectal prostate biopsy and transurethral resection of the tumor, and the pathological diagnosis was adenocarcinoma. Subsequently, we performed total cystectomy, ureterostomy, and pelvic lymphadenectomy. Based on the pathological and immunostaining findings (prostate-specific antigen negativity, CDX-2 positivity, cytokeratin 20 positivity, 34ß-E12 positivity), the patient was diagnosed with MPUAP. Four years after the surgery, recurrence or metastasis was not observed.
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Eosinophilic cholangitis (EC) is an uncommon, benign, self-limiting disease, which typically causes bile duct stricture with eosinophil infiltration. We report the case of a 70-year-old woman who presented with abdominal pain diagnosed with EC after treatment for eosinophilic esophagitis. All previous reported cases of EC had bile duct stricture seen on magnetic resonance cholangiopancreatography or cholangiogram during endoscopic retrograde cholangiopancreatography, but only wall thickness of the common bile duct was noted in our case. Although rare, EC should be considered when wall thickening of the bile duct is observed, even without stricture.
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BACKGROUND AND AIM: Chronic pancreatitis is a risk factor for pancreatic cancer. Pancreatic calcification is a characteristic of chronic pancreatitis; however, its significance for intraductal papillary mucinous neoplasm (IPMN) oncogenesis remains unknown. Therefore, we investigated the relationship between pancreatic calcification and invasive IPMN. METHODS: This study included 157 patients who underwent resection for IPMN between April 2001 and October 2016 (intraductal papillary mucinous adenoma, n = 76; noninvasive intraductal papillary mucinous carcinoma [IPMC], n = 32; and invasive IPMC, n = 49). We divided the subjects on the basis of the presence/absence of pancreatic calcification on preoperative computed tomography (CT). The factors associated with pancreatic calcification were investigated in univariate analyses. Then, multivariate logistic regression analyses of the relationship between pancreatic calcification and invasive IPMC (after adjusting for clinical or imaging characteristics) were conducted. RESULTS: Preoperative CT revealed pancreatic calcification in 17.2% (27/157) of the resected IPMN. In the univariate analyses, jaundice, high serum carbohydrate antigen 19-9 levels, and invasive IPMC were significantly associated with pancreatic calcification (4/27 [14.8%] vs 4/130 [3.1%], 0.01; 12/27 [44.4%] vs 31/130 [23.8%], 0.03; and 15/27 [55.6%] vs 34/130 [26.2%], 0.001, respectively). Pancreatic calcification was significantly associated with invasive IPMC (multivariate odds ratio = 2.88, 95% confidence interval [95% CI] = 1.15-7.21, 0.03, adjusted for clinical characteristics; odds ratio = 5.50, 95% CI = 1.98-15.3, 0.001, adjusted for imaging characteristics). CONCLUSIONS: Pancreatic calcification on CT is associated with invasive IPMC. Pancreatic calcification might be a predictor of invasive IPMC.
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Calcinose/diagnóstico por imagem , Tomografia Computadorizada Multidetectores , Neoplasias Intraductais Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico por imagem , Idoso , Calcinose/patologia , Bases de Dados Factuais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Neoplasias Intraductais Pancreáticas/patologia , Neoplasias Intraductais Pancreáticas/cirurgia , Neoplasias Pancreáticas/patologia , Neoplasias Pancreáticas/cirurgia , Valor Preditivo dos Testes , Prognóstico , Estudos RetrospectivosRESUMO
BACKGROUND: Endoscopic papillectomy (EP) for benign ampullary neoplasms could be a less-invasive alternative to pancreatoduodenectomy (PD). There are some problems and limitations with EP. The post-EP resection margins of ampullary tumors are often positive or uncertain because of the burning effect of EP. The clinical outcomes of resected margin positive or uncertain cases after EP remain unknown. AIM: To investigate the clinical outcomes of resected margin positive or uncertain cases after EP. METHODS: Between January 2007 and October 2018, all patients with ampullary tumors who underwent EP at Kobe University Hospital were included in this study. The indications for EP were as follows: adenoma, as determined by preoperative endoscopic biopsy, without bile/pancreatic duct extension, according to endoscopic ultrasound or intraductal ultrasound. The clinical outcomes of resected margin positive or uncertain cases after EP were retrospectively investigated. RESULTS: Of the 45 patients, 29 were male, and 16 were female. The mean age of the patients was 65 years old. Forty-one patients (89.5%) underwent en bloc resection, and 4 patients (10.5%) underwent piecemeal resection. After EP, 33 tumors were histopathologically diagnosed as adenoma, and 12 were diagnosed as adenocarcinoma. The resected margins were positive or uncertain in 24 patients (53.3%). Of these cases, 15 and 9 were diagnosed as adenoma and adenocarcinoma, respectively. Follow-up observation was selected for all adenomas and 5 adenocarcinomas. In the remaining 4 adenocarcinoma cases, additional PD was performed. Additional PD was performed in 4 cases, and residual carcinoma was found after the additional PD in 1 of these cases. In the follow-up period, local tumor recurrence was detected in 3 cases. Two of these cases involved primary EP-diagnosed adenoma. The recurrent tumors were also adenomas detected by biopsy. The remaining case involved primary EP-diagnosed adenocarcinoma. The recurrent tumor was also an adenocarcinoma. All of the recurrent tumors were successfully treated with argon plasma coagulation (APC). There was no local or lymph node recurrence after the APC. The post-APC follow-up periods lasted for 57.1 to 133.8 mo. No ampullary tumor-related deaths occurred in all patients. CONCLUSION: Resected margin positive or uncertain cases after EP could be managed by endoscopic treatment including APC, even in cases of adenocarcinoma. EP could become an effective less-invasive first-line treatment for early stage ampullary tumors.
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Adenocarcinoma/cirurgia , Adenoma/cirurgia , Neoplasias do Ducto Colédoco/cirurgia , Margens de Excisão , Recidiva Local de Neoplasia/cirurgia , Esfinterotomia Endoscópica/métodos , Adenocarcinoma/diagnóstico por imagem , Adenocarcinoma/mortalidade , Adenocarcinoma/patologia , Adenoma/diagnóstico por imagem , Adenoma/mortalidade , Adenoma/patologia , Idoso , Ampola Hepatopancreática/diagnóstico por imagem , Ampola Hepatopancreática/patologia , Ampola Hepatopancreática/cirurgia , Coagulação com Plasma de Argônio , Biópsia/métodos , Neoplasias do Ducto Colédoco/diagnóstico por imagem , Neoplasias do Ducto Colédoco/mortalidade , Neoplasias do Ducto Colédoco/patologia , Duodenoscopia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/patologia , Neoplasia Residual , Pancreaticoduodenectomia , Estudos Retrospectivos , Resultado do Tratamento , IncertezaRESUMO
OBJECTIVES: Pancreatic juice cytology (PJC) for intraductal papillary mucinous neoplasm (IPMN) is a possible tool to enhance preoperative diagnostic ability by improving risk classification for malignant IPMN, but its efficacy is controversial. This study evaluated the efficacy of PJC for risk classification according to international guidelines. METHODS: We retrospectively analyzed 127 IPMN patients who underwent endoscopic retrograde cholangiopancreatography (ERCP) preoperatively. PJC was performed in 125 of the 127 cases. High-risk stigmata (HRS, nâ¯=â¯57), worrisome features (WF, nâ¯=â¯64), and other characteristics (nâ¯=â¯6) were classified according to the 2017 international guidelines. RESULTS: Among the 127 IPMN patients, 71 (55.9%) had malignant IPMN (invasive and non-invasive intraductal papillary mucinous carcinoma). The accuracy of WF for classifying malignant IPMN was increased by the addition of PJC, but the accuracy of HRS was not (WF to WF + PJC: 33.1% [42/127] to 48.8% [61/125], HRS to HRS + PJC: 65.4% [83/127] to 52.8% [66/125]). Post-ERCP pancreatitis (PEP) occurred in 32 (25.2%) of 127 IPMN patients. Severe PEP was not detected. Significant risk factors for PEP were female sex, obesity, and endoscopic naso-pancreatic drainage (ENPD) (P = .03, P = .0006, and P = .02, respectively). In patients with ENPD tube placement, a main pancreatic duct size of <5 mm was a significant risk factor for PEP (P = .02). CONCLUSION: PJC could increase the accuracy of WF for classifying malignant IPMN. The additive effect of PJC for risk classification may be limited, however, and it is not recommended for all IPMN cases due to the high frequency of PEP.
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Adenocarcinoma Mucinoso/patologia , Carcinoma Ductal Pancreático/patologia , Citodiagnóstico/métodos , Suco Pancreático/citologia , Neoplasias Pancreáticas/patologia , Adenocarcinoma Mucinoso/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Ductal Pancreático/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/diagnóstico , Estudos Retrospectivos , Fatores de RiscoRESUMO
BACKGROUND: Recently, atmospheric low-temperature plasma (LTP) has attracted attention as a novel medical tool that might be useful for achieving hemostasis. However, conventional plasma sources are too big for use with endoscopes, and the efficacy of LTP for achieving hemostasis in cases of gastrointestinal bleeding is difficult to investigate. In this study, to solve the problem, we developed a 3D-printed LTP jet that has a diameter of 2.8 mm and metal body for endoscopic use. The characteristics, hemostasis efficacy, and safety were investigated. MATERIALS AND METHODS: On investigating the basic characteristics of the developed plasma jet, the electron densities, gas temperatures, and reactive species were measured by emission spectroscopy and thermocouple. To evaluate the efficacy of such hemostatic treatment, porcine gastrointestinal bleeding was treated with the device. In addition, to investigate the safety of such treatment, the CO2 LTP-treated tissue was compared with tissue that was treated with clipping-based or argon plasma coagulation-based hemostasis for 5 d, and hematoxylin and eosin staining was used to evaluate tissue damage in the treated regions. RESULTS: The measurement of emission spectroscopy, power, and electron density of various gas plasmas suggested that a high-density (1014 cm-3) LTP of CO2 was generated by the LTP jet, and the gas temperature was 41.5°C at 3 mm from the outlet of the LTP jet. The CO2 LTP achieved hemostasis of oozing blood by 70 ± 20 s. In addition, the CO2 LTP resulted in earlier recovery than clipping-based or argon plasma coagulation-based hemostases, and the treated regions had no damage by the CO2 LTP treatment. CONCLUSIONS: These results indicated that the developed LTP plasma jet has the potential to be used for endoscopic hemostasis.
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Dióxido de Carbono/uso terapêutico , Hemorragia Gastrointestinal/terapia , Hemostase Endoscópica/métodos , Hemostáticos/uso terapêutico , Gases em Plasma/uso terapêutico , Animais , Coagulação com Plasma de Argônio , Hemostase Endoscópica/instrumentação , Impressão Tridimensional , Suínos , Resultado do TratamentoRESUMO
BACKGROUND: Few previous reports have documented cases of nonbacterial thrombotic endocarditis associated with Trousseau's syndrome for which surgery proved possible for both the primary tumor and the cardiac lesion. The effectiveness of direct oral anticoagulants in patients with Trousseau's syndrome has also received scant attention. CASE PRESENTATION: A 69-year-old man with repeated episodes of cerebral infarction was diagnosed as having nonbacterial thrombotic endocarditis after mitral valve replacement surgery. Stroke recurred preoperatively under apixaban administration. A stomach biopsy also identified gastric adenocarcinoma, and gastric surgery was performed on the 40th postoperative day. The patient was discharged from the hospital and has been free of thromboembolism under a regime of subcutaneous heparin self-injection thereafter. CONCLUSIONS: We have reported a rare multi-surgery-tolerant survivor of Trousseau's syndrome in whom subcutaneous heparin injection was useful for preventing thromboembolic events over a long period.
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Inflammatory myofibroblastic tumors (IMTs) are neoplasms with low malignant potential, and the most common tumor in the lung and orbit. Their occurrence in the uterus is rare. Approximately 50% of IMT patients have anaplastic lymphoma kinase gene ( ALK) rearrangements. Recent studies described novel fusions involving ROS1, platelet-derived growth factor receptor beta ( PDGFR-ß), and ETS translocation variant ( ETV6) genes in a subset of ALK-negative patients. We report a 44-year-old woman with anemia and uterine IMT. Ultrasonography and magnetic resonance imaging revealed a myxoid degenerative myoma-like mass, 7.4 cm in maximum diameter, on the left uterine side wall. Hysterectomy was performed as a definitive treatment. Microscopic examination revealed spindle cell proliferation with numerous lymphocytes and plasma cells. Immunohistochemically, the spindle cells were negative for ALK-1, desmin, and smooth muscle actin. The pathological diagnosis was IMT arising from the uterus. Fluorescence in situ hybridization demonstrated an ETV6-neurotrophic tyrosine kinase, receptor, type 3 gene ( NTRK3) translocation but no ALK, ROS1, or PDGFR-ß translocations. Lung and abdomen computed tomography at 31 months postoperatively revealed no disease recurrence. This association of an ETV6-NTRK3 fusion oncogene with an ALK-negative uterine IMT increases our understanding of this neoplasm, which may help the development of specific therapies.
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Quinase do Linfoma Anaplásico/genética , Neoplasias de Tecido Muscular/genética , Proteínas de Fusão Oncogênica/genética , Neoplasias Uterinas/genética , Adulto , Quinase do Linfoma Anaplásico/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Neoplasias de Tecido Muscular/diagnóstico , Neoplasias de Tecido Muscular/cirurgia , Proteínas de Fusão Oncogênica/metabolismo , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirurgiaRESUMO
Ischemic fasciitis is a benign myofibroblastic lesion, occurring in the sacral region or proximal thigh of elderly or bedridden individuals. The pathogenesis of ischemic fasciitis is thought to be based on ischemic condition; however, it has never been demonstrated. In this study, we examined the expression of ischemia-associated proteins in ischemic fasciitis by immunohistochemical and genetic methods. Specifically, this study aimed to reveal the expression of HIF-1α, MDM2, CDK4, p16, and gene amplification of MDM2 gene. Seven cases of ischemic fasciitis from among the soft-tissue tumors registered at our institution were retrieved. Histopathological findings were as follows: poorly demarcated nodular masses, a proliferation of spindle-shaped fibroblastic or myofibroblastic cells with oval nuclei and eosinophilic or pale cytoplasm, zonal fibrinous deposition, pseudocystic degeneration, granulation-like proliferation of capillary vessels, ganglion-like cells, myxoid or hyalinized stroma, and chronic inflammatory infiltration. Immunohistochemically, the spindle cells were positive for HIF-1α (7/7 cases), MDM2 (4/7 cases), CDK4 (4/7 cases), p16 (7/7 cases), p53 (2/7 case), cyclin D1 (7/7 cases), and alpha-smooth muscle actin (6/7 cases). Neither MDM2 gene amplification nor USP6 gene split signal was detected in any case. Overexpression of the above proteins may be associated with the pathogenic mechanism of ischemic fasciitis. It is noted that the immunohistochemical positivity of MDM2, CDK4, and p16 do not necessarily indicate malignant neoplasm such as dedifferentiated liposarcoma.
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Biomarcadores/análise , Fasciite/patologia , Isquemia/patologia , Transcriptoma , Idoso , Idoso de 80 Anos ou mais , Quinase 4 Dependente de Ciclina/biossíntese , Inibidor p16 de Quinase Dependente de Ciclina/biossíntese , Fasciite/metabolismo , Feminino , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/biossíntese , Hibridização in Situ Fluorescente , Isquemia/metabolismo , Masculino , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas c-mdm2/biossínteseRESUMO
Immunoglobulin A (IgA) is the main antibody isotype secreted into the intestinal lumen. IgA plays a critical role in the defence against pathogens and in the maintenance of intestinal homeostasis. However, how secreted IgA regulates gut microbiota is not completely understood. In this study, we isolated monoclonal IgA antibodies from the small intestine of healthy mouse. As a candidate for an efficient gut microbiota modulator, we selected a W27 IgA, which binds to multiple bacteria, but not beneficial ones such as Lactobacillus casei. W27 could suppress the cell growth of Escherichia coli but not L. casei in vitro, indicating an ability to improve the intestinal environment. Indeed W27 oral treatment could modulate gut microbiota composition and have a therapeutic effect on both lymphoproliferative disease and colitis models in mice. Thus, W27 IgA oral treatment is a potential remedy for inflammatory bowel disease, acting through restoration of host-microbial symbiosis.
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Colite/prevenção & controle , Microbioma Gastrointestinal/imunologia , Imunoglobulina A Secretora/imunologia , Doenças Inflamatórias Intestinais/prevenção & controle , Animais , Anticorpos Monoclonais , Colite/imunologia , Colite/microbiologia , Escherichia coli/crescimento & desenvolvimento , Escherichia coli/imunologia , Feminino , Homeostase , Doenças Inflamatórias Intestinais/imunologia , Doenças Inflamatórias Intestinais/microbiologia , Intestino Delgado/imunologia , Intestino Delgado/microbiologia , Intestinos/imunologia , Intestinos/microbiologia , Masculino , Camundongos , Camundongos Endogâmicos BALB C , SimbioseRESUMO
BACKGROUND/AIM: Pancreatic-type acinar cell carcinoma (ACC) in the stomach is extraordinarily rare. We pathologically examined two cases with multiple primary carcinomas, including gastric tumors. PATIENTS AND METHODS: Gastric cancer specimens were examined by immunostaining and electron microscopy. RESULTS: Both cases had cancer cells with acinar patterns, resembling pancreatic ACC. The cancer cells in the first case were positive for exocrine markers, including chymotrypsin, lipase and alpha-1 antichymotrypsin (ACT), as well as neuroendocrine markers, including chromogranin A and synaptophysin. The cancer cells in the second case were positive for chymotrypsin and alpha-1 ACT, while being slightly positive for chromogranin A and synaptophysin. Ultrastructurally, cancer cells contained zymogen granules in both cases. The final diagnosis was pancreatic mixed acinar-neuroendocrine carcinoma and pure pancreatic ACC, respectively. CONCLUSION: We confirmed two cases with gastric pancreatic-type ACC included in multiple primary carcinomas. This type of double cancer has not been reported previously.
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Carcinoma de Células Acinares/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Pancreáticas/patologia , Neoplasias Gástricas/patologia , Idoso , Carcinoma de Células Acinares/mortalidade , Carcinoma de Células Acinares/ultraestrutura , Cromogranina A/análise , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/mortalidade , Neoplasias Pancreáticas/ultraestrutura , Neoplasias Gástricas/mortalidade , Neoplasias Gástricas/ultraestrutura , alfa 1-Antiquimotripsina/análise , Neoplasias PancreáticasRESUMO
Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (PTCH1) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of PTCH1 in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient.
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A 64-year-old woman presented with a sessile solitary fibrous tumor in the right thoracic cavity. She had undergone 2 solitary fibrous tumor resections 7 and 20 years previously. The latest histological findings were identical to the previous, and pathologically benign. However, we clinically classified the tumors as malignant because of repeated relapse. The tumor and extrapulmonary structures should be resected at the time of recurrence.
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Recidiva Local de Neoplasia , Tumor Fibroso Solitário Pleural/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Reoperação , Tumor Fibroso Solitário Pleural/diagnóstico por imagem , Tumor Fibroso Solitário Pleural/patologia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
CVID is a heterogeneous group of primary immunodeficiency diseases characterized by hypogammaglobulinemia, recurrent bacterial infections, and frequent autoimmune manifestations. The post-transplant course of liver transplant recipients with CVID is rarely described. We report two patients with CVID complicated by severe enteropathy who underwent living donor liver transplantation for liver failure because of severe hepatitis. The post-transplant course was complicated by recurrent acute rejection, leading to ductopenic rejection in one and recurrent hepatitis in the other. We reviewed the tissue samples histologically and immunohistochemically. Native livers showed submassive hepatocyte necrosis in one and cirrhotic liver with active hepatitis in the other, both with infiltration of CD8+ T cells accompanied by endothelialitis and bile duct damage; the intestine contained increased numbers of intraepithelial CD8+ T cells with apoptosis of epithelial cells. The liver allograft exhibited acute rejection, with prominent CD8+ T cells infiltrating the bile duct or endothelium. In the allograft following the diagnosis of post-transplant recurrent hepatitis, CD8+ T cells comprised the majority of infiltrating cells in portal areas spilling over into hepatic parenchyma. Our cases suggest that T cells contribute to the pathogenesis of CVID in native organs as well as allografts and may constitute evidence of T-cell deregulation in the pathogenesis of CVID.
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Imunodeficiência de Variável Comum/terapia , Hepatite/terapia , Enteropatias/terapia , Falência Hepática/terapia , Transplante de Fígado/métodos , Adulto , Ductos Biliares/patologia , Linfócitos T CD8-Positivos/imunologia , Criança , Imunodeficiência de Variável Comum/complicações , Células Epiteliais/citologia , Pai , Feminino , Citometria de Fluxo/métodos , Hepatite/complicações , Hepatite/cirurgia , Humanos , Imuno-Histoquímica/métodos , Enteropatias/complicações , Falência Hepática/complicações , Doadores Vivos , Mães , Transplante Homólogo , Resultado do TratamentoRESUMO
It has been estimated that approximately 10% of pheochromocytomas and paragangliomas are part of a hereditary syndrome. Recent studies, however, suggest that the genetic involvement in pheochromocytoma/paraganglioma is actually far more common. Here, we report a case of malignant paraganglioma with no apparent family history. A 59-year-old man was referred to our services because of multiple abdominal masses. Plasma and urine adrenalin and noradrenalin levels were slightly elevated, and plasma dopamine and urine vanillylmandelic acid levels were remarkably elevated. Abdominal and chest computed tomography revealed multiple masses in the para-aortic region and in both lungs. Although (131)I-meta iodobenzylguanidine scintigraphy did not show significant uptake in these tumors, a 6-[(18)F]fluorodeoxyglucose positron emission tomographic scanning study showed multiple areas of uptake corresponding to the tumors. Biopsy of the tumors revealed paraganglioma with chromogranin A-immunopositive cells. Genetic analysis indicated a nonsense mutation at codon 27 of the SDHB gene. As recently described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case.