RESUMEN
Treatment options for patients with hormone receptor-positive (HR+), HER2-negative (HER2-) breast cancer and resistance to endocrine therapy remain limited. An interesting therapeutic target in these patients is fibroblast growth factor receptor 1 (FGFR1). FGFR1 is amplified in approximately 11% of patients with breast cancer, especially those with HR+ disease. This report presents a patient with metastatic HR+ HER2- breast cancer harboring an FGFR1 amplification who was resistant to endocrine therapy but responded to pazopanib, a multi-tyrosine kinase inhibitor with FGFR-inhibiting activity. Upon pazopanib treatment, the patient's brain lesions nearly disappeared, and she experienced therapeutic changes in the lung and an improvement of liver function. This case suggests that pazopanib may be a promising agent for the treatment of patients with breast cancer and FGFR1 amplifications.
Asunto(s)
Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/genética , Amplificación de Genes/efectos de los fármacos , Amplificación de Genes/genética , Pirimidinas/uso terapéutico , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Sulfonamidas/uso terapéutico , Femenino , Humanos , Indazoles , Persona de Mediana EdadRESUMEN
OBJECTIVE: Hydroxyl-δ-5-steroid dehydrogenase (HSD3B1) is an enzyme that catalyzes the oxidative conversion of δ-5-3 ß-hydroxyl steroids to the δ-4-3-keto configuration and is involved in steroid hormone synthesis. It has been shown to be expressed in normal trophoblastic tissue and benign and neoplastic trophoblastic lesions. HSD3B1 has not been detected in a large number of lung, breast, and uterine carcinomas; however, its expression has not been studied in a wide variety of other nontrophoblastic neoplasms. To test if HSD3B1 is highly specific for normal trophoblasts and trophoblast-associated lesions, we examined the expression of HSD3B1 in a wide spectrum of tumors. METHODS: Tissue microarrays containing 473 carcinomas from the lung, breast, ovary, uterus, liver, pancreas, stomach, and colon; 32 ovarian granulose cell tumors; and 12 adrenocortical adenomas were studied by immunohistochemistry using a commercially available monoclonal antibody, HSD3B1. One tissue microarray containing normal tissues was also included. Positive staining of intermediate trophoblasts and syncytiotrophoblasts in normal placental tissue served as a positive control. RESULTS: Normal tissues and tumors from the various sites were all negative for HSD3B1 except for 2 adrenocortical adenomas with weak focal immunoreactivity. CONCLUSIONS: Our study further confirmed that HSD3B1 is a highly specific trophoblast-associated marker that can be used in the distinction of trophoblastic tumorlike lesions and tumors from nontrophoblastic lesions and tumors.
Asunto(s)
Biomarcadores de Tumor/metabolismo , Complejos Multienzimáticos/metabolismo , Neoplasias/metabolismo , Progesterona Reductasa/metabolismo , Esteroide Isomerasas/metabolismo , Trofoblastos/metabolismo , Carcinoma/diagnóstico , Carcinoma/metabolismo , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Especificidad de Órganos , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico , Complicaciones Neoplásicas del Embarazo/metabolismo , Análisis de Matrices Tisulares , Neoplasias Trofoblásticas/diagnóstico , Neoplasias Trofoblásticas/metabolismo , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/metabolismoRESUMEN
OBJECTIVE: Gastric type of adenocarcinoma (GAC) is a newly reported, morphologically distinct, mucinous subtype of cervical adenocarcinoma and is distinguished by aggressiveness and fatal outcomes. The association between human papillomavirus (HPV) and cervical carcinoma is well known; however, GAC is almost always HPV negative. MATERIALS AND METHODS: We report an unusual case of cervical GAC in a 41-year-old woman with a metastatic ovarian mass. The histological morphology of both tumors consisted of irregular glands lined by mucous cells with mild to moderate nuclear atypia and containing abundant cytoplasmic mucin. RESULTS: Immunohistochemical studies of the tumor cells revealed positive reactivity for CK7 and carcinoembryonic antigen but negative reactivity for p16 and HPV DNA usually expressed in cervical adenocarcinoma. Further staining for mucin with monoclonal antibody HIK1083 showed positive reactivity in both cervical and ovarian tumors. A gastric type of cervical carcinoma is considered. The patient is free of detectable disease at a 12-month follow-up. CONCLUSIONS: P16 staining and HPV DNA test result are usually positive in usual mucinous type of cervical adenocarcinoma, but they are negative in GAC. HIK1083 is becoming more commonly used for the diagnosis of GAC. Differentiation of GAC from usual mucinous type of cervical adenocarcinoma is important because GAC was related to a significant risk of recurrence and decreased 5-year disease-specific survival. We suggest applying HIK1083 in the diagnosis of cervical adenocarcinoma, especially in a small biopsy specimen.
Asunto(s)
Adenocarcinoma/complicaciones , Adenocarcinoma/diagnóstico , Neoplasias Ováricas/patología , Neoplasias Ováricas/secundario , Neoplasias del Cuello Uterino/complicaciones , Neoplasias del Cuello Uterino/diagnóstico , Adenocarcinoma/patología , Adulto , Femenino , Histocitoquímica , Humanos , Inmunohistoquímica , Microscopía , Pelvis/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Neoplasias del Cuello Uterino/patologíaRESUMEN
BACKGROUND: Campylobacter-related infectious gastroenteritis is common and usually self-limited. Intestinal perforation is a rare complication of the infectious colitis caused by Campylobacter, and only handful of cases have been reported. This is the first published case report of pediatric Campylobacter intestinal perforation located in the sigmoid colon. CASE PRESENTATION: A 15-year-old previously Taiwanese healthy boy presented with 5 days of fever up to 39.8 °C, with right lower quadrant abdominal pain and watery diarrhea. Although he received antimotility agents and antipyretics at a local clinic to relieve symptoms, he came to the emergency department with signs of shock manifesting as hypothermia to 35.2 °C, tachycardia, and low blood pressure. Laboratory testing demonstrated leukocytosis with left shift and significant elevation of C-reactive protein. Stool and blood cultures were obtained, and he was admitted for fluid challenge and antibiotic treatment. On the second day of admission, he suffered from sudden onset of severe, diffuse abdominal pain. Physical examination revealed muscle guarding, rebounding tenderness, and silent bowel sound. Abdominal X-ray showed subdiaphragmatic free air at standing view. The patient underwent emergent exploratory laparotomy, which revealed sigmoid colon perforation about 0.5 cm. Enterolysis and repair of sigmoid colon were performed. Intraoperative stool specimen nucleic acid amplification testing had turned positive for Campylobacter spp. with negative results for other bacterial pathogens. His symptoms improved and he tolerated food well, and was discharged 15 days after admission. CONCLUSIONS: We present this case because of the rarity of Campylobacter-induced sigmoid colon perforation in the pediatric population. It is important to keep in mind that sigmoid colon perforation can be due to an infectious cause, and one of the culprits can be Campylobacter. Infectious colitis caused by Campylobacter spp. should be managed cautiously and the use of antimotility agents in such conditions should be considered judiciously.
Asunto(s)
Campylobacter , Colitis , Enfermedades del Colon , Enterocolitis , Perforación Intestinal , Masculino , Humanos , Niño , Adolescente , Colon Sigmoide , Perforación Intestinal/cirugía , Enfermedades del Colon/diagnóstico , Dolor Abdominal/etiología , Enterocolitis/complicaciones , Colitis/complicacionesRESUMEN
Langerhans cell histiocytosis is a rare disease and is lethal in premature neonates. A male premature neonate born at gestational 33 weeks presented with generalized vesicles, hydrops fetalis with pleural effusion, bilateral cataracts, and severe respiratory distress syndrome complicated with persistent pulmonary hypertension. Skin biopsy confirmed the diagnosis of Langerhans cell histiocytosis.
Asunto(s)
Histiocitosis de Células de Langerhans/diagnóstico , Hidropesía Fetal/diagnóstico , Catarata/diagnóstico , Resultado Fatal , Histiocitosis de Células de Langerhans/complicaciones , Histiocitosis de Células de Langerhans/congénito , Histiocitosis de Células de Langerhans/patología , Humanos , Hidropesía Fetal/etiología , Hidropesía Fetal/patología , Hipertensión Pulmonar/diagnóstico , Hipertensión Pulmonar/etiología , Recién Nacido , Recien Nacido Prematuro , Masculino , Derrame Pleural/diagnóstico , Derrame Pleural/etiología , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Índice de Severidad de la Enfermedad , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/patologíaRESUMEN
BACKGROUND: Anal intraepithelial neoplasia (AIN) refers to a precancerous lesion of anal squamous cell carcinoma (SCC). Human papillomavirus (HPV) is considered a crucial risk factor for AIN. Individuals with high-risk sexual behaviour, such as receptive anal intercourse and multiple sexual partners, as well as men who have sex with men exhibit a relatively high rate of AIN. The anal cytology is a screening method for AIN in high-risk individuals, and patients with abnormal anal cytology may benefit from high-resolution anoscopy. This study explored the predictive value of the anal cytology for the detection of AIN or worse (AIN+). METHODS: We searched the databases of PubMed, BioMed Central, Cochrane Library, and Google Scholar for relevant studies. Studies on the diagnostic efficacy of the anal cytology for predicting anal cancer on a per-patient basis were included. We excluded review articles. Either prospective trials or retrospective studies were included. We performed the meta-analysis by using a random-effects model to generate a pooled sensitivity, specificity, and diagnostic odds ratio (DOR). All analyses were performed using the MetaDiSc version 1.4 software (Universidad Complutense, Madrid, Spain). RESULTS: Twelve studies with 2541 participants were retrieved. The meta-analysis of the studies assessing the predictive value of the anal cytology for detecting AIN+ generated a pooled sensitivity of 0.79 (95% confidence interval [CI], 0.77-0.82) and a pooled specificity of 0.66 (95% CI, 0.64-0.69). The pooled DOR for the anal cytology was 5.31 (95% CI, 3.31-8.49). CONCLUSIONS: Our results revealed that the anal cytology might be effective in diagnosing AIN+.
Asunto(s)
Neoplasias del Ano/patología , Carcinoma in Situ/patología , Infecciones por Papillomavirus/patología , Neoplasias del Ano/virología , Carcinoma in Situ/virología , Femenino , Humanos , Masculino , Prueba de Papanicolaou/normas , Valor Predictivo de las PruebasRESUMEN
Pemphigus vulgaris (PV) is an autoimmune disease in which the autoantibody, immunoglobulin G, is directed against the keratinocytes in the epidermis. The classic presentations of PV are flaccid vesicles or bullae over the oral mucosa, trunk, groin, and extremities. The age of onset is usually between 40 and 60 years, and cases of PV in children or adolescent patients are rare. Here, we present a 17-year-old boy who had painful oral ulcers for 3 months initially and bullae spreading to the whole body in the following days. Paraneoplastic pemphigus was another differential diagnosis due to the atypical appearance of the skin lesion. However, PV was confirmed by hematoxylin and eosin staining and immunofluorescence examination of the skin biopsy specimens. The patient had a good response to corticosteroid treatment and the immunosuppressive agent, rituximab.
Asunto(s)
Úlceras Bucales/etiología , Pénfigo/complicaciones , Pénfigo/diagnóstico , Adolescente , Corticoesteroides/uso terapéutico , Diagnóstico Diferencial , Humanos , Inmunosupresores/uso terapéutico , Masculino , Pénfigo/tratamiento farmacológicoRESUMEN
Follicular dendritic cell (FDC) sarcomas are extremely rare, with only 2 reported cases involving the palate. These tumors have typical oval to spindle cells with fine chromatin, obvious nucleoli and indistinct cell borders. They are usually arranged as sheets, whorls, or in a storiform pattern. Although FDC sarcoma has a characteristic morphologic picture, due to its rarity it may be mistaken for other types of sarcoma, carcinoma or melanoma. Immunohistochemical and ultrastructural studies are useful for confirmation of the diagnosis. We report a case of FDC sarcoma developing in the soft palate. The patient suffered from an oral cavity mass with dysphagia in the previous 2 months as well as body weight loss of 8 kg during the previous 6 months. He was well previously and denied any other systemic problems. Wide excision of the tumor was performed and no recurrence or metastasis was noted for 5 years. The success of the procedure may have been due to a well-defined tumor margin and less aggressive histological features. The ability to recognize and differentiate extranodal FDC tumors based on knowledge of their full morphologic spectrum is important as they have an intermediate malignant potential.
Asunto(s)
Células Dendríticas Foliculares/patología , Neoplasias Palatinas/patología , Paladar Blando , Sarcoma/patología , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Neoplasias Palatinas/diagnóstico , Neoplasias Palatinas/cirugía , Sarcoma/diagnóstico , Sarcoma/cirugíaRESUMEN
Phlebosclerotic colitis (PC) is a rare but potentially life-threatening disease. The initial presentation may include non-specific symptoms, such as vomiting, constipation and abdominal pain; however, intestinal stenosis, gangrene and perforation may occur without appropriate management. The present report describes the case of a 56-year-old male with abdominal pain and constipation. Imaging studies revealed thread-like calcifications involving almost the entire colon, which had markedly progressed over a three-year period, and changes consistent with colonic ischemia. Angiography revealed decreased blood flow in the mesenteric veins. The patient underwent emergent subtotal colectomy, and pathological examination revealed gangrene of the colon and calcifications of the mesenteric veins. The patient's postoperative course was uneventful. In conclusion, PC is a potentially life-threatening condition that may be diagnosed by the presence of serpentine calcifications on imaging studies. Management depends on the severity of the disease, ranging from close follow-up to prompt surgical intervention.
Asunto(s)
Adenomioma/diagnóstico , Antineoplásicos Hormonales/uso terapéutico , Leuprolida/uso terapéutico , Pólipos/diagnóstico , Neoplasias Uterinas/diagnóstico , Adenomioma/tratamiento farmacológico , Adulto , Femenino , Humanos , Pólipos/tratamiento farmacológico , Neoplasias Uterinas/tratamiento farmacológicoRESUMEN
We report two cases of hepatobiliary cystadenoma. Case 1. A 58-year-old male presented with dull abdominal pain and recurrent jaundice. Abdominal echo revealed biliary tracts dilatation; ERCP revealed amorphous filling defect inside the dilated CBD, a cystic tumor in the left lobe communicated with bile duct was disclosed by MRI/MRCP. He received left lobectomy and microscopic findings proved hepatobiliary cystadenoma. Case 2. Abdominal ultrasound detected a huge cystic tumor over the left hepatic lobe in a 69-year-old male. Abdominal CT revealed a large cystic mass lesion over the left hepatic lobe with septations and multiple papillary projections. A liver biopsy was performed and microscopic findings proved biliary cystadenoma. An abdominal ultrasound 6 months later revealed intrahepatic spread of cystadenocarcinoma over both lobes. Hepatobiliary cystadenoma is a rare benign cystic tumor of the liver. It usually occurs in middle-aged women and can undergo malignant change and become lethal. It is frequently misdiagnosed and should be suspected when a uni- or multilocular cystic lesion with papillary infoldings is detected in the liver by CT or ultrasound. ERCP/MRCP have a role in pre-operative evaluation. Elevated serum and cystic fluid tumor markers CA19-9 are only seen in some patients; cystic fluid cytology does not provide adequate diagnostic aid. Its morphologic features maybe confused with biliary papillomatosis or IPMN of bile duct. Its prognosis is excellent after complete resection.
Asunto(s)
Conductos Biliares Intrahepáticos , Neoplasias del Sistema Biliar/diagnóstico , Cistoadenoma/diagnóstico , Neoplasias Hepáticas/diagnóstico , Anciano , Neoplasias del Sistema Biliar/cirugía , Biopsia , Colangiopancreatografia Retrógrada Endoscópica , Colecistectomía , Cistoadenoma/cirugía , Diagnóstico Diferencial , Estudios de Seguimiento , Hepatectomía , Humanos , Neoplasias Hepáticas/cirugía , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: CD24, a mucin like cell surface adhesion molecule and a ligand for P-selectin, has been reported as a prognostic factor in a variety of human cancers. However, the role of CD24 in gastric adenocarcinoma remains largely unknown. METHODS: The expression pattern of CD24 in 103 gastric adenocarcinomas (31 diffuse type, 60 intestinal type, and 12 mixed type) was analyzed by immunohistochemistry. RESULTS: Cytoplasmic CD24 expression occurred in 50% of the gastric adenocarcinoma patients and was associated with high-stage tumor (Stage III-IV, P = .023), serosal invasion (SI, P = .010), lymphovascular invasion (LVI, P = .039), and lower 10-year survival (P = .0238). The CD24 staining pattern was different in intestinal and diffuse-type gastric adenocarcinomas. However, the tumor thrombi in lymphovascular spaces exhibited strong cytoplasmic CD24 expression in both types. Further analysis showed that cytoplasmic CD24 expression was, in fact, correlated with high-stage tumor, SI, LVI, and lower 10-year survival significantly (P = .020, P = .007, P = .018, P = .0285, respectively) in diffuse-type gastric adenocarcinoma. Moreover, multivariate analysis showed that cytoplasmic CD24 expression was an independent risk factor of SI and LVI respectively (P = .0083 and P = .0019), and thus it contributed to high-stage tumor and poor patient survival in diffuse- or mixed-type gastric adenocarcinoma. CONCLUSIONS: Cytoplasmic expression of CD24 was associated with invasiveness and poorer prognosis and can serve as a novel target for prognostic prediction and adjuvant treatment of patients with diffuse-type gastric adenocarcinoma after tumor resection.
Asunto(s)
Adenocarcinoma/patología , Biomarcadores de Tumor/análisis , Antígeno CD24/análisis , Citoplasma/patología , Neoplasias Gástricas/patología , Adenocarcinoma/mortalidad , Adenocarcinoma/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Técnicas para Inmunoenzimas , Ganglios Linfáticos/patología , Metástasis Linfática/patología , Masculino , Persona de Mediana Edad , Invasividad Neoplásica/patología , Estadificación de Neoplasias , Pronóstico , Membrana Serosa/patología , Estómago/patología , Neoplasias Gástricas/mortalidad , Neoplasias Gástricas/cirugía , Análisis de SupervivenciaRESUMEN
Presented herein is a case of primary retroperitoneal teratoma with adenocarcinomatous transformation predominantly composed of signet ring cell carcinoma and intestinal-type adenocarcinoma in a 36-year-old woman. Retroperitoneum is an infrequent location for teratoma in adults and malignant transformation is exceptionally rare. Clinical manifestations, radiological studies, laboratory investigation, and pathological findings of this case are described. To the best of the authors' knowledge, 16 adult cases of primary retroperitoneal teratoma with malignant change have been reported in the literature. Herein is reported the first case of malignant teratoma with prominent component of signet ring cell carcinoma.
Asunto(s)
Adenocarcinoma/patología , Neoplasias Primarias Múltiples/patología , Neoplasias Retroperitoneales/patología , Teratoma/patología , Adenocarcinoma/diagnóstico por imagen , Adenocarcinoma/secundario , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Metástasis Linfática , Neoplasias Primarias Múltiples/diagnóstico por imagen , Neoplasias Retroperitoneales/diagnóstico por imagen , Teratoma/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVES: p27Kip1 (p27) is a member of the cyclin-dependent kinase inhibitor family. The level of p27 protein expression decreases during tumor development and progression in some epithelial tumors. To identify the potential implications of the p27 gene in the development of cervical carcinoma and explore the clinical importance of change in gene expression, we assessed the level of p27 protein in precancerous lesions and carcinomas of the cervix. METHODS: In our study, 20 low-grade squamous intraepithelial lesions (LSIL), 35 high-grade squamous intraepithelial lesions (HSIL), 12 microinvasive carcinomas, and 103 invasive carcinomas were evaluated. The expression of p27 was studied by immunohistochemistry using a monoclonal antibody specific for the protein. RESULTS: p27 was expressed in all samples of normal epithelium, LSIL, and HSIL, and the mean values of expression were 55.1, 52.8, and 45.4%, respectively. Conversely, the expression of p27 was significantly reduced in microinvasive (15.9%) and invasive carcinomas (11.2%). Furthermore, loss of p27 expression was significantly associated with lymph node metastasis (P = 0.009). However, p27 down-regulation had no influence on overall survival using univariate analysis. CONCLUSIONS: The trend of reduced p27 expression in microinvasive and invasive carcinomas suggests that down-regulation of p27 expression is strongly linked to neoplastic transformation of cervical epithelium, and inactivation of p27 may be an early event in cervical carcinogenesis. Moreover, loss of p27 expression was related to lymph node metastasis in cervical carcinoma. These results imply that inactivation of p27 is associated with highly aggressive phenotype of cervical carcinoma.