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1.
Artículo en Inglés | MEDLINE | ID: mdl-38991766

RESUMEN

BACKGROUND AND PURPOSE: Morning glory disc anomaly (MGDA) is a congenital malformation characterized by a funnel-shaped optic disc excavation with radiating vessels and a central glial tuft. Imaging is essential to evaluate associated cephalocele and steno-occlusive vasculopathy. The goal of this study was to assess optic nerve, chiasmatic, and sphenoid bone morphology in MGDA. MATERIALS AND METHODS: This retrospective study examined all subjects with funduscopically confirmed MGDA diagnosed and imaged with brain MR imaging between 2008 and 2023. RESULTS: Thirty-two children met inclusion criteria. Ocular involvement was unilateral in 29 subjects and bilateral in 3. Segmental optic nerve enlargement ipsilateral to the MGDA was seen in 21 subjects, with 3 also demonstrating a segmental reduction in the size of the ipsilateral optic nerve. Segmental reduction in the size of the ipsilateral optic nerve was present in 3 additional subjects, one with bilateral MGDA. The optic chiasm appeared asymmetrically thickened in 21 subjects, often with deformity. The optic nerves appeared normal in signal intensity in all subjects, with faint peripheral chiasmatic enhancement in 4 of 20 patients who received contrast. Optic nerve findings were stable in 15 subjects with multiple examinations. A persistent craniopharyngeal canal was identified in 17 subjects with sphenoid cephalocele in 1 and mild inferior pituitary gland displacement in 4. Tubular or nodular nasopharyngeal lesions were seen in 10 subjects. One subject had an off-midline sphenoid bone cleft, midbrain deformity, and abnormal thickening of and enhancement around the left oculomotor nerve; the oculomotor nerve finding was present in 1 additional patient. CONCLUSIONS: MGDA often manifests with ipsilateral optic nerve thickening, leading to a potential misdiagnosis as optic glioma. MGDA is also commonly associated with a persistent craniopharyngeal canal with variable pituitary gland and infundibular deformity, cephalocele, and tubular or nodular nasopharyngeal lesions.

2.
AJNR Am J Neuroradiol ; 37(5): 910-6, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26744443

RESUMEN

BACKGROUND AND PURPOSE: Juvenile xanthogranuloma is a non-Langerhans cell histiocytosis primarily affecting children. The purpose of this study was to characterize the imaging features of histologically confirmed pediatric head and neck juvenile xanthogranuloma. MATERIALS AND METHODS: A retrospective review was performed of medical records and imaging of histologically confirmed head and neck juvenile xanthogranuloma. RESULTS: Ten patients (6 girls, 4 boys) 1 month to 12 years of age were imaged with ultrasound only (n = 1), CT only (n = 2), CT and ultrasound (n = 1), MR imaging only (n = 3), or MR imaging and CT (n = 3). Masses were solitary in 9 patients and multiple in 1. Solitary masses were located in the external auditory canal, infra-auricular region, infratemporal fossa with intracranial extension, frontal scalp, and subperiosteal space eroding the calvaria and along the dura. One patient with disseminated disease had scalp-, calvarial-, and dural-based masses. Clinical presentation included a mass or alteration in function. On sonography, juvenile xanthogranuloma appeared hypoechoic. On contrast-enhanced CT, masses appeared homogeneous and isoattenuating with muscle and sometimes eroded bone. On MR imaging, compared with the cerebral cortex, the masses appeared hyper- or isointense on T1 and hypo- or isointense on T2, had decreased diffusivity, and enhanced homogeneously. Juvenile xanthogranuloma was not included in the differential diagnosis in any case. CONCLUSIONS: Head and neck juvenile xanthogranuloma has varied manifestations. Mild hyperintensity on T1, hypointensity on T2 compared with the cerebral cortex, decreased diffusivity, and homogeneous enhancement are characteristic. Awareness of these features should prompt radiologists to include juvenile xanthogranuloma in the differential diagnosis of pediatric head and neck masses.


Asunto(s)
Xantogranuloma Juvenil/diagnóstico por imagen , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Cabeza/diagnóstico por imagen , Cabeza/patología , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Imagen Multimodal , Cuello/diagnóstico por imagen , Cuello/patología , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Ultrasonografía
3.
Mucosal Immunol ; 8(3): 516-32, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25227985

RESUMEN

Antigen-mediated cross-linking of Immunoglobulin E (IgE) bound to mast cells/basophils via FcɛRI, the high affinity IgE Fc-receptor, is a well-known trigger of allergy. In humans, but not mice, dendritic cells (DCs) also express FcɛRI that is constitutively occupied with IgE. In contrast to mast cells/basophils, the consequences of IgE/FcɛRI signals for DC function remain poorly understood. We show that humanized mice that express FcɛRI on DCs carry IgE like non-allergic humans and do not develop spontaneous allergies. Antigen-specific IgE/FcɛRI cross-linking fails to induce maturation or production of inflammatory mediators in human DCs and FcɛRI-humanized DCs. Furthermore, conferring expression of FcɛRI to DCs decreases the severity of food allergy and asthma in disease-relevant models suggesting anti-inflammatory IgE/FcɛRI signals. Consistent with the improved clinical parameters in vivo, antigen-specific IgE/FcɛRI cross-linking on papain or lipopolysaccharide-stimulated DCs inhibits the production of pro-inflammatory cytokines and chemokines. Migration assays confirm that the IgE-dependent decrease in cytokine production results in diminished recruitment of mast cell progenitors; providing a mechanistic explanation for the reduced mast cell-dependent allergic phenotype observed in FcɛRI-humanized mice. Our study demonstrates a novel immune regulatory function of IgE and proposes that DC-intrinsic IgE signals serve as a feedback mechanism to restrain allergic tissue inflammation.


Asunto(s)
Asma/inmunología , Células Dendríticas/inmunología , Hipersensibilidad al Huevo/inmunología , Inmunoglobulina E/inmunología , Mastocitos/inmunología , Receptores de IgE/inmunología , Alérgenos/inmunología , Animales , Asma/genética , Asma/patología , Ensayos de Migración Celular , Movimiento Celular/efectos de los fármacos , Reactivos de Enlaces Cruzados/química , Citocinas/biosíntesis , Citocinas/metabolismo , Células Dendríticas/efectos de los fármacos , Células Dendríticas/patología , Hipersensibilidad al Huevo/genética , Hipersensibilidad al Huevo/patología , Retroalimentación Fisiológica , Regulación de la Expresión Génica , Humanos , Inmunidad Mucosa , Inmunoglobulina E/química , Inmunoglobulina E/genética , Lipopolisacáridos/farmacología , Mastocitos/efectos de los fármacos , Mastocitos/patología , Ratones , Ratones Transgénicos , Ovalbúmina/inmunología , Papaína/farmacología , Cultivo Primario de Células , Unión Proteica , Receptores de IgE/química , Receptores de IgE/genética , Transducción de Señal
4.
J Laryngol Otol ; 127(5): 528-30, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23406791

RESUMEN

BACKGROUND: Hairy polyps are rare congenital growths of the head and neck, mainly found in the nasopharynx and oropharynx. They are made up of two germ cell layers: the ectoderm and mesoderm. METHODS: This paper reports a four-month-old who presented with breathing and feeding difficulties. Clinical examination was unremarkable, but a video taken by the patient's mother on her smartphone showed a mass protruding from the infant's mouth. Laryngoscopy performed in the operating theatre showed that the mass emanated from the left posterior tonsillar pillar. RESULTS: The mass was removed transorally with no complications. Pathological examination showed a skin-covered pedunculated structure characteristic of a hairy polyp. The patient's follow up was unremarkable. CONCLUSION: To the best of our knowledge, this is the second English-language case report of a patient with a hairy polyp emanating from a posterior tonsillar pillar. This paper also highlights the growing usage of smartphones by patients to help physicians with their diagnosis and management.


Asunto(s)
Enfermedades Faríngeas/patología , Pólipos/patología , Femenino , Humanos , Lactante , Grabación en Video
5.
AJNR Am J Neuroradiol ; 31(2): 257-61, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19779003

RESUMEN

BACKGROUND AND PURPOSE: Pediatric upper airway carcinoma is uncommon, symptoms are nonspecific, and diagnosis is often delayed. In this study, we describe the imaging, cytogenetics, and clinical courses of 4 patients with pediatric upper airway carcinoma. MATERIALS AND METHODS: Four patients with upper airway carcinoma were identified during a 2.5-year period. CT (n = 4) and MR imaging (n = 3) studies, tumor histopathologic features and cytogenetics, patient treatment, and clinical course were reviewed. RESULTS: Patients were aged 12 to 15 years. One tumor involved the larynx with poorly defined margins and heterogeneous enhancement; 1 heterogeneously enhancing tumor involved the epiglottis with necrotic cervical lymphadenopathy. There were 2 enhancing sinonasal tumors with bony destruction in 1 tumor. Tumors had a relatively short relaxation time on FSEIR MR imaging. Histopathologic examination revealed poorly differentiated squamous cell carcinoma (n = 3) and well-differentiated squamous cell carcinoma (n = 1). Cytogenetic analysis revealed chromosomal abnormalities in 3 tumors: 2 showed a chromosomal translocation t(15;19), and 1 showed a chromosomal translocation t(1;5) and loss of a portion of chromosome 22q. Results of in situ hybridization for EBV were negative (n = 3). Treatment included tumor resection (n = 2), chemotherapy (n = 4), and radiation therapy (n = 3). Patients with t(15;19) died months after diagnosis. Two patients were alive at 8-year follow-up. CONCLUSIONS: Childhood carcinoma of the upper airway is uncommon but should be considered in the diagnosis of upper airway tumors that display aggressive imaging characteristics. Carcinoma with t(15;19) is rare but has been reported, usually in young patients with midline carcinoma of the neck or mediastinum, with a rapidly fatal course.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias Laríngeas , Neoplasias Nasales , Tomografía Computarizada por Rayos X , Translocación Genética , Adolescente , Carcinoma de Células Escamosas/diagnóstico por imagen , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patología , Niño , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 19 , Epiglotis/diagnóstico por imagen , Epiglotis/patología , Femenino , Glotis/diagnóstico por imagen , Glotis/patología , Humanos , Hibridación Fluorescente in Situ , Neoplasias Laríngeas/diagnóstico por imagen , Neoplasias Laríngeas/genética , Neoplasias Laríngeas/patología , Imagen por Resonancia Magnética , Masculino , Neoplasias Nasales/diagnóstico por imagen , Neoplasias Nasales/genética , Neoplasias Nasales/patología , Estudios Retrospectivos
6.
J Laryngol Otol ; 123(6): 635-41, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18761766

RESUMEN

OBJECTIVE: To provide an up to date review of the literature on aneurysmal bone cysts, including their diagnosis, pathology, pathophysiology, radiology and management. METHOD: Retrospective review of six cases over a 15-year period. RESULTS: Six patients (age range, eight months to 17 years; mean, 9.6 years) presented with an aneurysmal bone cyst in the mandible (n = 3), maxilla (n = 2) or occipital soft tissue (n = 1). Each patient underwent primary excision, with one subsequent recurrence. CONCLUSION: Aneurysmal bone cysts are benign but locally destructive entities which may occasionally present to otolaryngologists, since they can involve the head and neck region, in particular the mandible.


Asunto(s)
Quistes Óseos Aneurismáticos/cirugía , Enfermedades Mandibulares/cirugía , Enfermedades de los Senos Paranasales/cirugía , Adolescente , Quistes Óseos Aneurismáticos/diagnóstico por imagen , Quistes Óseos Aneurismáticos/patología , Niño , Femenino , Humanos , Lactante , Masculino , Enfermedades Mandibulares/diagnóstico por imagen , Enfermedades Mandibulares/patología , Cuello , Enfermedades de los Senos Paranasales/diagnóstico por imagen , Enfermedades de los Senos Paranasales/patología , Radiografía , Estudios Retrospectivos , Resultado del Tratamiento
7.
Lymphology ; 41(3): 103-10, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19013877

RESUMEN

Identification of lymphatic vessels in normal tissue and vascular malformations has been considerably enhanced by the recently discovered lymphatic endothelial markers D2-40 and LYVE-1. However, comparative analysis of these two antibodies in the evaluation of lymphatic malformations has not been widely reported. We evaluated twenty lymphatic malformations of skin/subcutis/soft tissue with immunostaining for D2-40 and LYVE-1. Ten high-power fields from each section were scored for total number of immunopositive vessels using identical fields with both markers. Vessels were grouped by diameter (< 225 microm and > 225 microm), with each vessel categorized according to the percentage of its lumen showing immunopositivity (< 25, 26-75, or > 75). Endothelial staining intensity was graded low or high in each case. We found no significant difference between total number of vessels stained with D2-40 or LYVE-1 or between the 2 markers in terms of the percentage of luminal circumference stained or intensity in vessels smaller than 225 microm. LYVE-1 stained a higher percentage of luminal circumference of channels greater than 225 microm at both low and high intensities. Large channels stained much less and sometimes not at all with either antibody. D2-40 and LYVE-1 are both effective for highlighting endothelium of lymphatic malformations, staining similar percentages of channels. LYVE-1 provides more luminal staining in channels larger than 225 microm but is less specific also staining macrophages and adipocytes. Both markers are expressed less strongly or sometimes not at all in large channels.


Asunto(s)
Anticuerpos Monoclonales , Biomarcadores/metabolismo , Sistema Linfático/anomalías , Sistema Linfático/metabolismo , Proteínas de Transporte Vesicular/metabolismo , Adolescente , Anticuerpos Monoclonales de Origen Murino , Niño , Preescolar , Endotelio/metabolismo , Femenino , Humanos , Inmunohistoquímica , Lactante , Masculino , Sensibilidad y Especificidad , Proteínas de Transporte Vesicular/inmunología , Adulto Joven
8.
Eur J Pediatr Surg ; 18(3): 192-4, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18493897

RESUMEN

PURPOSE: Pleuropulmonary blastoma (PPB) is a rare intrathoracic neoplasm of early childhood arising in the lung or visceral pleura. Approximately 150 cases have been reported in the literature, with only one previously documented case of PPB in siblings. PATIENTS AND METHODS: We present the case of two brothers diagnosed with PPB. RESULTS: A two month-old boy with an abnormal breathing pattern was referred for evaluation of a cystic mass discovered on chest radiograph. Computed tomography (CT) of the chest was performed at our institution which revealed findings compatible with congenital cystic adenomatoid malformation (CCAM) of the right middle and lower lobes. The patient underwent urgent thoracic exploration one week later after developing severe respiratory distress. Histological examination revealed PPB type I (cystic). The patient's 15-month-old brother was presumed to have a CCAM noted radiographically months earlier during an asthma exacerbation. He underwent elective cyst resection and was also found to have type I PPB. The index patient was treated with adjuvant chemotherapy due to the large size of the PPB and intraoperative spillage of cystic fluid during the emergent surgery. In contrast, the brother is being followed without adjuvant chemotherapy, given the much smaller size of the PPB, wide margins of resection, and lack of spillage. Family history included an uncle diagnosed at age 11 with an unusual form of T cell acute lymphoblastic leukemia. CONCLUSION: Although PPB is known to have a familial association with other neoplasms, this case represents only the second report of PPB occurring in siblings. The importance of thoroughly investigating and resecting pulmonary cystic masses in the pediatric population is highlighted by these cases.


Asunto(s)
Neoplasias Pulmonares/diagnóstico , Neoplasias Pleurales/diagnóstico , Blastoma Pulmonar/diagnóstico , Predisposición Genética a la Enfermedad , Humanos , Lactante , Neoplasias Pulmonares/cirugía , Masculino , Neoplasias Pleurales/cirugía , Neumonectomía , Blastoma Pulmonar/cirugía
9.
Transpl Infect Dis ; 9(2): 121-5, 2007 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-17461997

RESUMEN

BACKGROUND: Nebulized amphotericin B deoxycholate (AmBd) has been used to prevent invasive pulmonary aspergillosis after lung transplantation. METHODS: In this retrospective study we compared the safety and tolerability of nebulized AmBd and nebulized liposomal amphotericin B (L-AmB) in 38 consecutive lung transplant recipients. Progress notes, medication administration records, microbiology, and pulmonary function reports were reviewed. Histologic sections from lung tissue were examined. Plasma amphotericin B levels were measured. RESULTS: A total of 1206 doses of AmBd and 1149 doses of L-AmB were administered. Eighteen patients received AmBd only, 11 received L-AmB only, and 9 received the medications sequentially. The total number of complaints vs. the number of doses administered was 1.0% for AmBd-treated patients and 1.2% for L-AmB-treated patients. No differences were observed between the treatment groups on lung biopsy specimens. Plasma amphotericin B levels were <0.2-0.9 microg/mL in AmBd-treated patients and <0.2 microg/mL in L-AmB-treated patients. CONCLUSIONS: In lung transplant recipients, both inhaled AmBd and L-AmB were safe and well tolerated over a large number of medication exposures.


Asunto(s)
Anfotericina B/administración & dosificación , Antifúngicos/administración & dosificación , Ácido Desoxicólico/administración & dosificación , Trasplante de Pulmón/efectos adversos , Micosis/tratamiento farmacológico , Aerosoles , Anfotericina B/efectos adversos , Anfotericina B/sangre , Química Farmacéutica , Ácido Desoxicólico/efectos adversos , Ácido Desoxicólico/sangre , Combinación de Medicamentos , Farmacorresistencia Fúngica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
10.
Am J Pathol ; 159(6): 1987-92, 2001 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11733348

RESUMEN

Translocation t(15;19)(q13;p13.1) defines a lethal midline carcinoma arising adjacent to respiratory tract in young people. To characterize molecular alterations responsible for the distinctly aggressive biological behavior of this cancer, we mapped the chromosome 15 and 19 translocation breakpoints by fluorescence in situ hybridization (FISH) and Southern blotting. To evaluate preliminarily the frequency, anatomical distribution, and histological features of t(15;19) cancer, we developed a FISH assay for paraffin sections. Our findings reveal a novel oncogenic mechanism in which the chromosome 19 translocation breakpoint interrupts the coding sequence of a bromodomain gene, BRD4. These studies implicate BRD4 as a potential partner in a t(15;19)-associated fusion oncogene. In addition, we localized the chromosome 15 breakpoint to a 9-kb region in each of two cases, thereby identifying several candidate oncogenes which might represent the BRD4 fusion partner. FISH evaluation of 13 pediatric carcinomas revealed t(15;19) in one of four sinonasal carcinomas, whereas this translocation was not detected in thymic (n = 3), mucoepidermoid (n = 3), laryngeal (n = 2), or nasopharyngeal (n = 1) carcinomas. Our studies shed light on the oncogenic mechanism underlying t(15;19) and provide further evidence that this highly lethal cancer arises from respiratory mucosa.


Asunto(s)
Cromosomas Humanos Par 15/genética , Cromosomas Humanos Par 19/genética , Reordenamiento Génico/genética , Neoplasias Pulmonares/genética , Proteínas de Fusión Oncogénica/genética , Translocación Genética , Adolescente , Adulto , Empalme Alternativo , Southern Blotting , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patología , Proteínas de Ciclo Celular , Niño , Preescolar , ADN de Neoplasias/genética , Femenino , Genes/genética , Humanos , Hibridación Fluorescente in Situ , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Proteínas Nucleares , Isoformas de Proteínas/genética , Factores de Transcripción , Células Tumorales Cultivadas
11.
Am J Surg Pathol ; 25(11): 1438-42, 2001 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11684963

RESUMEN

Benign fibrous lesions of the umbilicus have not been previously studied in a formal series. Clinical and pathologic findings were reviewed in all patients under age 19 with lesions resected from the umbilical region at Children's Hospital (Boston, MA, USA) during an 8-year period. Fourteen lesions were characterized by a well-circumscribed dome-shaped or pedunculated dermal proliferation of moderately cellular fibrous tissue without significant inflammation. Fibroblastic cells were plump to elongate with abundant pale pink cytoplasm. In a subset of lesions, some cells showed atypia or ganglion cell-like morphology. Collagen ranged from sparse to long narrow bundles. Vascularity was sparse and the lesions were nonencapsulated. Loss of rete ridges and basket-weave hyperkeratosis was common in the overlying epidermis. Immunostaining showed focal staining for muscle-specific actin and desmin in a subset of cases and no staining for cytokeratin, epithelial membrane antigen, CD34, or S-100. Age ranged from 3 to 18 months (mean 9 months, median 8 months). Thirteen (93%) patients were boys. Recurrence was not observed. In conclusion, the "fibrous umbilical polyp" is a distinctive lesion of early childhood with an uncertain pathogenesis. It shows a marked predilection for boys, is not rare, and appears to represent a clinicopathologic entity. Perhaps the umbilicus, a midline defect that is normally filled by dense scar tissue after birth, contains unique fibrogenic factors responsible for the development of this distinct lesion.


Asunto(s)
Neoplasias Abdominales/patología , Fascitis/patología , Fibroma/patología , Pólipos/patología , Ombligo/patología , Neoplasias Abdominales/cirugía , Biomarcadores de Tumor , División Celular , Femenino , Fibroma/cirugía , Humanos , Inmunohistoquímica , Lactante , Masculino , Pólipos/cirugía , Factores Sexuales , Ombligo/cirugía
12.
Cancer ; 92(5): 1195-203, 2001 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-11571733

RESUMEN

BACKGROUND: Carcinoma of the upper respiratory tract is rare in childhood, and cytogenetic aberrations have not been characterized in this population. The chromosomal translocation 15;19 has been reported four times previously. All patients were young and had tumors arising in the thorax. The three reports that provide clinical follow-up all describe superior vena cava syndrome and death soon after presentation. All tumors were diagnosed as carcinoma (three undifferentiated, one mucoepidermoid), and the authors suggested thymus, lung, or germ cell origin. METHODS: The authors investigated the clinical and pathologic findings in two patients with poorly differentiated carcinoma showing evidence of t(15;19). This included a 13-year-old girl with a rapidly growing epiglottic mass, leading to superior vena cava syndrome and death and a 12-year-old girl with an aggressive nasopharyngeal mass showing intracranial extension. RESULTS: The laryngeal tumor was poorly differentiated, with vesicular nuclei, prominent nucleoli, extensive necrosis, and a lymphoplasmacytic infiltrate; cells were positive for cytokeratin and negative for lymphoma, melanoma, germ cell, and endocrine markers. Electron microscopy showed rare intermediate junctions and basal lamina. The nasopharyngeal tumor was poorly differentiated with areas of obvious squamous differentiation observed histologically, immunophenotypically, and ultrastructurally. Cytogenetic and fluorescent in situ hybridization studies were consistent with t(15;19)(q13;p13.1) in both cases. Both children received chemo- and radiotherapy. The first child died of disease after 36 weeks; autopsy revealed tumor in the larynx with spread to the skin/subcutis (neck and thorax) and lymph nodes (cervical, subcarinal, and pulmonary hilar). The second child developed widespread bony metastases and died of disease after 13 weeks. CONCLUSIONS: In conjunction with previous reports, the authors' findings show that t(15;19) is part of a distinct clinicopathologic entity characterized by young age, midline carcinoma of the neck or upper thorax, and a rapidly fatal course. Female gender and superior vena cava syndrome are common. The histogenesis of these distinctive tumors is unknown. The authors' findings suggest origin in the upper airway, perhaps from submucosal glands.


Asunto(s)
Carcinoma/genética , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 19 , Neoplasias Laríngeas/genética , Neoplasias Nasofaríngeas/genética , Translocación Genética , Adolescente , Neoplasias Encefálicas/patología , Carcinoma de Células Escamosas/genética , Niño , Epiglotis , Resultado Fatal , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Neoplasias Laríngeas/diagnóstico , Neoplasias Nasofaríngeas/diagnóstico , Neoplasias Nasofaríngeas/patología , Invasividad Neoplásica , Neoplasias del Sistema Respiratorio/genética , Neoplasias del Sistema Respiratorio/mortalidad , Síndrome de la Vena Cava Superior/etiología
13.
Am J Surg Pathol ; 25(2): 185-96, 2001 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-11176067

RESUMEN

Giant cell angioblastoma was described previously in a single case report as a congenital soft-tissue tumor with a unique morphology. In the current report, we describe three cases of giant cell angioblastoma found in three infants; one case was congenital and located in the hand, one appeared neonatally in the palate, and one on the scalp of an infant. Clinical findings and results of light microscopy, immunohistochemistry, and electron microscopy were evaluated. All tumors were ulcerated; the hand and palate tumors also infiltrated soft tissue and bone. They exhibited a solid, nodular, and plexiform proliferation of oval-to-spindle cells with a frequent striking, concentric aggregation around small vascular channels. These cells had characteristics of undifferentiated mesenchymal cells, fibroblasts, myofibroblasts, and pericytes. Co-mingled with these cells were large mononuclear and multinucleate giant cells with histiocytic features. The palatal giant cell angioblastoma, excised with positive margins, was managed with interferon-alpha and showed no progression after nearly 5 years. The hand tumor diminished in size after management with interferon-alpha, was subtotally excised, and did not progress after 27 months. Follow-up data are unavailable for the patient with the scalp lesion. Our findings validate the classification of giant cell angioblastoma as a distinct and rare entity that is locally infiltrative but slow growing. The morphology and diverse cellular differentiation are consistent with an unusual form of neoplastic angiogenesis.


Asunto(s)
Células Gigantes/patología , Hemangiosarcoma/patología , Neoplasias de los Tejidos Blandos/patología , Biomarcadores de Tumor/análisis , Femenino , Hemangiosarcoma/química , Hemangiosarcoma/congénito , Hemangiosarcoma/terapia , Humanos , Técnicas para Inmunoenzimas , Lactante , Recién Nacido , Masculino , Proteínas de Neoplasias/análisis , Pericitos/ultraestructura , Neoplasias de los Tejidos Blandos/química , Neoplasias de los Tejidos Blandos/congénito , Neoplasias de los Tejidos Blandos/terapia , Resultado del Tratamiento
14.
Pediatr Dev Pathol ; 4(5): 434-45, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11779045

RESUMEN

Pleuropulmonary blastoma, an aggressive tumor that is emerging as a distinct entity of childhood, is characterized by mesenchymal elements (including undifferentiated blastema and often cartilaginous, rhabdomyoblastic, or fibroblastic differentiation) and epithelium-lined spaces. We investigated two patients with pleuropulmonary blastoma, a 3-year-old boy and an 11-year-old girl, both with large cystic masses replacing one lung. In both children, the post-chemotherapy resection specimens showed more maturation of rhabdomyoblasts and more nuclear pleomorphism in all mesenchymal cell lines, compared with biopsies sampled before treatment. Karyotypic analysis demonstrated gains in chromosome 8 in both cases and 17p deletion in one case. Fluorescent in situ hybridization analysis demonstrated that the chromosome 8 gains were present in all mesenchymal elements, including undifferentiated blastematous, rhabdomyoblastic, fibroblastic, and chondroblastic areas. Epithelial cells showed no chromosome 8 gains. The chromosome 8 aberrations were not appreciably different in pre- versus post-chemotherapy tissue. Our findings substantiate previous reports that polysomy of chromosome 8 is a consistent feature of pleuropulmonary blastoma. Further, they indicate that clonal proliferation in pleuropulmonary blastoma is restricted to the malignant mesenchymal elements, supporting the notion that the epithelial components of this tumor are non-neoplastic.


Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 8 , Neoplasias Pulmonares/genética , Blastoma Pulmonar/genética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biomarcadores de Tumor/análisis , Niño , Preescolar , Cisplatino/administración & dosificación , Ciclofosfamida/administración & dosificación , Dactinomicina/administración & dosificación , Doxorrubicina/administración & dosificación , Femenino , Humanos , Técnicas para Inmunoenzimas , Hibridación Fluorescente in Situ , Cariotipificación , Neoplasias Pulmonares/química , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/terapia , Masculino , Blastoma Pulmonar/química , Blastoma Pulmonar/terapia , Vincristina/administración & dosificación
15.
Urology ; 56(1): 154, 2000 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-10869656

RESUMEN

We evaluate a rare case of a 5-year-old boy with granular cell tumor of the penis, located on the coronal margin. We discuss the anatomic distribution of granular cell tumors, noting the marked female predominance of genital involvement and reviewing the distribution of granular cell tumors by site in a pediatric series. We also discuss clinical implications, management, and histogenesis.


Asunto(s)
Tumor de Células Granulares/patología , Neoplasias del Pene/patología , Preescolar , Tumor de Células Granulares/etiología , Tumor de Células Granulares/terapia , Humanos , Masculino , Neoplasias del Pene/etiología , Neoplasias del Pene/terapia
16.
Am J Clin Pathol ; 112(3): 373-6, 1999 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-10478143

RESUMEN

Prior studies documenting the distribution of cancer in radical prostatectomy specimens were based on specimens resected before the advent of prostate-specific antigen (PSA) testing and were not specifically aimed at defining the incidence of cancer in precise regions of the gland. If localized therapy, such as brachytherapy or conformal radiation, could be minimized in areas of low cancer incidence, such as the anterior prostate, morbidity including injury to adjacent normal tissue might also be minimized. We examined 82 recent prostatectomy specimens and noted all areas of cancer in each gland. Distribution of involvement was evaluated with respect to preoperative serum PSA level, clinical stage, and pathologic features. Prostate cancer was present posteriorly in 78 of 82 cases and anteriorly in 53 of 82 cases. The presence of anterior cancer was strongly associated with elevated PSA level (P = .003), total cancer volume (P = .0002), and extraprostatic extension (P = .006), but was not associated with age, Gleason grade, or clinical stage. We conclude that the incidence of anterior prostate cancer is high. Its presence is strongly correlated with other variables, and thus strategies for selecting patients for limited localized therapy based on preoperative PSA and tumor volume estimates may be warranted.


Asunto(s)
Adenocarcinoma/diagnóstico , Antígeno Prostático Específico/sangre , Prostatectomía/métodos , Neoplasias de la Próstata/diagnóstico , Adenocarcinoma/sangre , Adenocarcinoma/terapia , Anciano , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Neoplasias de la Próstata/sangre , Neoplasias de la Próstata/terapia , Estudios Retrospectivos
17.
Mod Pathol ; 12(6): 635-45, 1999 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-10392641

RESUMEN

The limitations of post mortem detection of early myocardial infarction by hematoxylin and eosin staining stimulated a search for the development of improved diagnostic methods based on biochemical and morphologic changes. Methods used and/or investigated included electron microscopic examination, gross and microscopic histochemical stains (tetrazolium salts, phosphotungstic acid-hematoxylin, trichrome, periodic acid-Schiff, hematoxylin-basic fuchsin-picric acid), fluorescence, immunohistochemical techniques, and chemical analysis of pericardial fluid. This practical review, designed for both forensic and hospital-based autopsy pathologists, examines the methods available for post mortem diagnosis of myocardial infarction for cases in which death might have occurred before the evolution of changes detectable by hematoxylin and eosin staining. The status and potential usefulness of each adjunct to classical morphologic examination is summarized. Recent developments are highlighted, including the possibility of using apoptosis as a marker for acute ischemic injury.


Asunto(s)
Técnicas de Diagnóstico Cardiovascular , Infarto del Miocardio/diagnóstico , Miocardio/patología , Apoptosis , Creatina Quinasa/sangre , Humanos , Infarto del Miocardio/metabolismo , Miocardio/química , Potasio/análisis , Sodio/análisis
18.
Pediatr Dev Pathol ; 2(4): 371-6, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10347282

RESUMEN

Hematogones are benign immature B cells that commonly populate the bone marrow of children. Their presence has been noted to interfere with the flow-cytometric analysis of cases of suspected acute lymphoblastic leukemia (ALL) because their immunophenotype (positive for CD19, CD10, CD34, and terminal deoxynucleotidyl transferase) is similar to that of pre-B cell lymphoblasts. Here we report a case in which the presence of a discrete population of hematogones, characterized by low-intensity CD10 cell-surface staining compared with pre-B cell lymphoblasts, actually aided in the recognition of early relapsed ALL and disease progression over a 4-day period. We also review our experience with flow-cytometric immunophenotyping in pediatric cases of suspected leukemia to evaluate the frequency of this occurrence.


Asunto(s)
Linfocitos B/patología , Células Madre Hematopoyéticas/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Antígenos CD19/metabolismo , Linfocitos B/metabolismo , Niño , Citometría de Flujo/métodos , Fluoresceína-5-Isotiocianato , Células Madre Hematopoyéticas/metabolismo , Humanos , Inmunofenotipificación , Masculino , Neprilisina/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras/metabolismo , Pronóstico , Estándares de Referencia
19.
Transfusion ; 39(4): 387-91, 1999 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-10220265

RESUMEN

BACKGROUND: Transfusion of cells harvested from patients with chronic myelogenous leukemia (CML) as a therapeutic measure for patients with granulocytopenia was popular in the 1970s, when studies examining the persistence of transfused donor cells were limited by a lack of molecular techniques. Blood samples from a patient who recently received an inadvertent transfusion of CML cells were evaluated for the presence of the bcr/abl translocation characteristic of CML. CASE REPORT: The patient, a 67-year-old man with a history of congestive heart failure, myocardial infarct, hypertension, diabetes mellitus, and chronic renal failure, was transfused for bleeding from colonic angiodysplasia. A volunteer blood donor reported that he had been diagnosed with CML 10 days after his donation. Three days after the donation, blood components from the donor with CML had been administered to the patient as nonirradiated red cells and platelets. Evaluation of donor blood by a reverse-transcriptase polymerase chain reaction showed the b3a2 transcript, indicating a bcr/abl translocation. Periodic testing of the patient's peripheral blood by the same technique demonstrated the presence of the b3a2 transcript on Days 74 and 75 after transfusion. The patient died of congestive heart failure 8 months after the transfusion. CONCLUSION: In this rare case of accidental transfusion of neoplastic cells, the findings document the persistence of the donor's neoplastic clone in the recipient for 75 days.


Asunto(s)
Donantes de Sangre , Genes abl , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Proteínas Oncogénicas/genética , Proteínas Tirosina Quinasas , Proteínas Proto-Oncogénicas , Reacción a la Transfusión , Translocación Genética , Anciano , Humanos , Masculino , Proteínas Proto-Oncogénicas c-bcr , Factores de Tiempo
20.
Int J Radiat Oncol Biol Phys ; 43(3): 587-90, 1999 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-10078642

RESUMEN

PURPOSE: An increased incidence of acute urinary retention has been reported after interstitial prostate radiation therapy when the anterior base of the prostate gland receives 100% of the prescription dose. The frequency of prostate cancer in this location as a function of the pre-treatment prostate specific antigen (PSA), biopsy Gleason score, and 1992 American Joint Commission on Cancer Staging (AJCC) was determined. METHODS AND MATERIALS: One hundred four men treated at the Brigham and Women's Hospital with radical prostatectomy for clinically localized prostate cancer between 1995-1996 comprised the study population. Prostatectomy specimens were whole mounted and the location of each tumor foci enumerated. RESULTS: Of 269 foci of prostate cancer found in 39 low-risk prostate cancer patients (PSA < 10 ng/ml, biopsy Gleason score < or = 6, and 1992 AJCC clinical stage T1c,2a), a single focus (0.37%) was noted in the anterior base. Conversely, 20/355 (5.6%) and 18/251 (7.2%) tumor foci were noted in the anterior base in 43 patients with intermediate risk and 24 patients with high-risk disease, respectively. CONCLUSIONS: A new definition of the treatment volume excluding the anterior base for low-risk prostate cancer patients may be justified.


Asunto(s)
Braquiterapia/métodos , Antígeno Prostático Específico/sangre , Próstata/patología , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/radioterapia , Humanos , Masculino , Estadificación de Neoplasias , Prostatectomía , Neoplasias de la Próstata/sangre , Neoplasias de la Próstata/cirugía
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