RESUMO
The authors review their 20-year (1985-2004) experience with fine-needle aspiration biopsy (FNAB) in 829 children (all but 1 younger than 18 years), from whom 899 samples were obtained. All patients presented with clinical data suggesting malignancy. The procedure followed standard methods (22- to 24-gauge needle; mean of six alcohol-fixed and/or air-dried, H&E- or Giemsa-like-stained smears/procedure; leftover clots processed as a biopsy). Interpretation of cytologic smears was performed taking into consideration the clinical, laboratory, and imaging data. Smears diagnosed as positive for malignant cells were reported in 510 samples (56.7%) (463 patients); 1.89% of the smears were found inadequate for diagnosis. Positive for malignancy cases included 467 primary tumors, 52% of which were localized to the abdomen. NMYC status was determined on neuroblastoma samples by fluorescent in situ hybridization. Overall sensitivity of the procedure was 98% (500/510 FNAB); specificity was 92.6% (463/500 FNAB); positive predictive value was 1 and negative predictive value was 0.99. All FNABs diagnosed as benign tumors or inflammatory lesions correlated with histology and/or clinical outcome. FNAB proved to be highly cost-effective, avoiding a surgical biopsy. The procedure was found to be extremely helpful when deciding on preoperative chemotherapy.
Assuntos
Biópsia por Agulha Fina , Neoplasias/patologia , Neoplasias Abdominais/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Lactente , Masculino , Neoplasias/classificação , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Neoplasias Torácicas/patologiaRESUMO
AIM: To compare the expression of p57 as indirect marker of genomic imprinting of CDKN1C in a series of infantile hemangiomas (IH) of patients with and without Beckwith-Wiedemann syndrome. MATERIALS AND METHODS: Cases of mammary, salivary gland, liver (one each), and placental (2 cases) capillary hemangiomas all with histological features akin to IH as well as typical examples of cutaneous (8 cases) IH were analyzed by immunohistochemistry with antibody against p57(KIP2). This protein is the product of CDKN1C an imprinted, maternally expressed gene. The liver hemangioma and both chorioangiomas were from patients with Beckwith-Wiedemann syndrome. Positive and negative controls included normal placental tissue and complete hydatidiform mole, respectively. Positive staining was localized to nuclei. RESULTS: Endothelial cells from the skin, breast and salivary gland hemangiomas were p57(KIP2) positive while chorioangiomas and liver IH presenting in patients with Beckwith-Wiedemann syndrome were negative. Controls reacted appropriately. CONCLUSIONS: Endothelial cells of IH not associated with BWS normally express p57(KIP2) while chorioangiomas and IH of the liver associated with BWS do not. These results suggest that the BWS IH may result from dysregulation of the cell cycle.
Assuntos
Hemangioma/metabolismo , Proteínas Nucleares/biossíntese , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/metabolismo , Síndrome de Beckwith-Wiedemann/patologia , Biomarcadores , Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Ciclo Celular/fisiologia , Criança , Pré-Escolar , Inibidor de Quinase Dependente de Ciclina p57 , Feminino , Hemangioma/genética , Hemangioma/patologia , Humanos , Imuno-Histoquímica , Lactente , Recém-Nascido , Masculino , Proteínas Nucleares/genética , Doenças Placentárias/genética , Doenças Placentárias/metabolismo , Doenças Placentárias/patologia , Gravidez , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Fixação de TecidosRESUMO
Testicular microlithiasis (TM) is being recognized with increasing frequency because of the extensive use of ultrasound. TM has been linked to several pathological conditions of the testis, mainly with an increased risk for developing germ cell tumors. The pathogenesis of the microcalcospherites is unknown. We report a detailed morphologic and immunohistochemical analysis of 11 patients (age: 3 to 15 years) with TM. The microliths were related neither to the age of the children nor to the developmental stage of the testis. The microcalcospherites were PAS positive or collagen IV positive or surrounded by a collagen IV-positive band, extratubular structures consistently associated with double-layered annular tubules. Immature, smaller Sertoli cells commonly lined the inner layer of the annular tubules. Some microcalcospherites showed an interposed thin band of connective tissue cells between the concretion and the tubular basement membrane. The annular tubules seemed to result from progressive wrapping of the growing tubules around the concretions. Our findings favor the interpretation that the microliths are located outside the tubules and have been present there since very early stages of testicular development. The association of the calcospherites with Sertoli cells and annular tubules formation, like that of gonadal stromal tumor with annular tubules of the ovary and large cell-calcifying Sertoli cell tumor of the testis, favors the hypothesis that microliths may result from multifocal Sertoli cell dysfunction. Since both tumors are related to the Peutz-Jeghers syndrome, it is proposed that TM may result from the same genetic abnormalities. It is unclear how this may be related to the development of germ cell tumors. However, the presence of calcospherites in gonadoblastoma may indicate a combined Sertoli cell and germ cell derangement in the genesis of TM.
Assuntos
Litíase/metabolismo , Litíase/patologia , Doenças Testiculares/metabolismo , Doenças Testiculares/patologia , Adolescente , Criança , Pré-Escolar , Colágeno Tipo IV/metabolismo , Humanos , Imuno-Histoquímica , Masculino , Reação do Ácido Periódico de Schiff , Células de Sertoli/patologiaRESUMO
We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral Wilms tumor. She was born with bilateral ankyloblepharon. The mother and maternal grandmother presented similar ectodermal defects. Skin biopsies of the patient and her mother proved to contain cells overexpressing p63 by immunohistochemistry. Karyotypes of the patient and her mother, and FISH studies on lymphocytes and tumor cells of the girl demonstrated a mosaic 11p15.5 deletion. These findings suggest a relationship between familial ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome (Hay-Wells syndrome) and familial reticulate pigmentation of the skin. In addition the development of Wilms tumor and 11p15.5 region involvement expand the genetic relationship between these conditions and the enlarging group of genetic entities related to nephroblastoma.
Assuntos
Anormalidades Múltiplas/patologia , Displasia Ectodérmica/patologia , Neoplasias Renais/patologia , Transtornos da Pigmentação/patologia , Tumor de Wilms/patologia , Anormalidades Múltiplas/genética , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 11/genética , Saúde da Família , Feminino , Humanos , Hibridização in Situ Fluorescente , Pele/patologia , SíndromeRESUMO
We report on 2 patients with congenital malignant rhabdoid tumor, one located to the kidney and the other to the soft parts of the cheek. Initial diagnosis was performed through percutaneous fine-needle aspiration biopsies, which yielded cytologic smears exhibiting highly characteristic rhabdoid cells, i.e., cells with a large, vesicular nucleus with a prominent nucleolus and cytoplasm exhibiting a large, dense, paranuclear inclusion. Interphase FISH demonstrated only one signal (heterozygous deletion) for the BCR gene in both cases, supporting the diagnosis. Surgical pathology and immunohistochemistry of both cases confirmed the diagnosis. Both patients died within the following 6 mo to 1 yr.
Assuntos
Bochecha/patologia , Neoplasias Renais/patologia , Rim/patologia , Proteínas Tirosina Quinases , Proteínas Proto-Oncogênicas , Tumor Rabdoide/patologia , Biópsia por Agulha , Bochecha/fisiologia , Evolução Fatal , Deleção de Genes , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Neoplasias Renais/congênito , Neoplasias Renais/metabolismo , Proteínas Oncogênicas/biossíntese , Proteínas Proto-Oncogênicas c-bcr , Tumor Rabdoide/congênito , Tumor Rabdoide/metabolismoRESUMO
En trabajos previos hemos relatado el reconocimiento de la presencia de ADN del HPV en casos de hepatitis gigantocelular neonatal idiopática (HGNI) y atresia de vías biliares (AVB) en material de archivo usando la técnica de PCR. A fin de investigar una posible transmisión vertical estudiamos la presencia de ADN del HPV en hisopados cervicales de madres así como un tejido hepático fijado en formol e incluído en parafina, de 3 lactantes con HGNI y 4 con AVB mediante la técnica de nested-PCR. En dos casos los extendidos cervicales presentaron coilocitos, compatibles con infección por HPV. Excepto en uno el parto fué por vía vaginal en todos. Todos los lactantes eran del sexo masculino. En todos los casos se demostró amplificación del ADN del HPV, siendo concordante los tipos en los lactantes y sus madres. Aunque este es un grupo pequeño los hallazgos están de acuerdo con nuestros datos previos. La presencia del mismo tipo de HPV en el hígado de los lactantes y en hisopados de sus madres es otro argumento que apoya la posibilidad de una transmisión vertical del virus.
Assuntos
Feminino , Humanos , Lactente , Recém-Nascido , Atresia Biliar/etiologia , DNA Viral/análise , Células Gigantes , Hepatite/congênito , Papillomaviridae/isolamento & purificação , Peso ao Nascer , Hepatite/etiologia , Transmissão Vertical de Doenças Infecciosas , Fígado/patologia , Fígado/virologia , Papillomaviridae/genética , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/transmissão , Análise de Sequência de DNARESUMO
En trabajos previos hemos relatado el reconocimiento de la presencia de ADN del HPV en casos de hepatitis gigantocelular neonatal idiopática (HGNI) y atresia de vías biliares (AVB) en material de archivo usando la técnica de PCR. A fin de investigar una posible transmisión vertical estudiamos la presencia de ADN del HPV en hisopados cervicales de madres así como un tejido hepático fijado en formol e incluído en parafina, de 3 lactantes con HGNI y 4 con AVB mediante la técnica de nested-PCR. En dos casos los extendidos cervicales presentaron coilocitos, compatibles con infección por HPV. Excepto en uno el parto fué por vía vaginal en todos. Todos los lactantes eran del sexo masculino. En todos los casos se demostró amplificación del ADN del HPV, siendo concordante los tipos en los lactantes y sus madres. Aunque este es un grupo pequeño los hallazgos están de acuerdo con nuestros datos previos. La presencia del mismo tipo de HPV en el hígado de los lactantes y en hisopados de sus madres es otro argumento que apoya la posibilidad de una transmisión vertical del virus. (AU)
Assuntos
Feminino , Humanos , Lactente , Recém-Nascido , Papillomavirus Humano/isolamento & purificação , Hepatite/congênito , Atresia Biliar/etiologia , DNA Viral/análise , Células Gigantes , Fígado/patologia , Fígado/virologia , Papillomavirus Humano/genética , Hepatite/etiologia , Análise de Sequência de DNA , Peso ao Nascer , Transmissão Vertical de Doenças Infecciosas , /complicações , /transmissãoRESUMO
Ménétrier's disease (MD) is a rare form of hypertrophic or hyperplastic gastropathy characterized by conspicuous thickening of the gastric mucosal folds and foveolar (crypt) hyperplasia. We examined the presence of cytomegalovirus (CMV) in 2 cases of MD in adults, one associated with gastric carcinoma, using the polymerase chain reaction (PCR). None of the cases showed intranuclear inclusions consistent with CMV infection. Both revealed, besides the features of MD, a peculiar pattern of "chronic active plasmacellular gastritis". Although the samples had been-stored in formalin for more than 10 years CMV-DNA was recovered with good yield from both samples. The demonstration of CMV in MD in adults may helps to explain present knowledge of the complex relationships between this virus and gastric mucosa, and strongly suggests a pathogenetic role of the virus with variable phenotypic expression along the years.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Infecções por Citomegalovirus/complicações , Gastrite Hipertrófica/virologia , Mucosa Gástrica/patologia , Mucosa Gástrica/virologia , Neoplasias Gástricas/complicações , Reação em Cadeia da PolimeraseRESUMO
Ménétriers disease (MD) is a rare form of hypertrophic or hyperplastic gastropathy characterized by conspicuous thickening of the gastric mucosal folds and foveolar (crypt) hyperplasia. We examined the presence of cytomegalovirus (CMV) in 2 cases of MD in adults, one associated with gastric carcinoma, using the polymerase chain reaction (PCR). None of the cases showed intranuclear inclusions consistent with CMV infection. Both revealed, besides the features of MD, a peculiar pattern of "chronic active plasmacellular gastritis". Although the samples had been-stored in formalin for more than 10 years CMV-DNA was recovered with good yield from both samples. The demonstration of CMV in MD in adults may helps to explain present knowledge of the complex relationships between this virus and gastric mucosa, and strongly suggests a pathogenetic role of the virus with variable phenotypic expression along the years.(AU)
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Gastrite Hipertrófica/virologia , Infecções por Citomegalovirus/complicações , Reação em Cadeia da Polimerase , Neoplasias Gástricas/complicações , Mucosa Gástrica/virologia , Mucosa Gástrica/patologiaRESUMO
El ileo meconial se reconoce principalmente en recien nacidos y se le considera como una manifestación precoz de la fibrosis quística. Presentamos un caso de ileo meconial en un mortinato de 26 semanas de edad gestacional, cuatrillizos, con bajo peso para la edad gestacional probablemente secundario a un síndrome de transfusión feto-fetal.
Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Morte Fetal/etiologia , Doenças do Íleo/etiologia , Íleo/patologia , Mecônio , Obstrução Intestinal/etiologia , Complicações na Gravidez/etiologia , Gravidez MúltiplaRESUMO
En esta comunicación relatamos el caso de un niño que presentóSHU recurrente desde los 2 hsta los 20 meses de edad. Tardiamente en el curso de la enfermedad desarrolló hipertensión pulmonar e insuficiencia cardiaca derecha. La neoplasia mostró una arteriopata plexogénica avanzada, una lesión no descrita previamente en casos de SHU recurrente. La conbinación de hallazgos sugiere un mecanismo de daño endotelial combinado renal y arterial pulmonar.
Assuntos
Humanos , Masculino , Recém-Nascido , Hipertensão Pulmonar/fisiopatologia , Insuficiência Cardíaca/fisiopatologia , Síndrome Hemolítico-Urêmica/fisiopatologia , Síndrome Hemolítico-Urêmica/mortalidadeRESUMO
Se presentaron dos casos de enfermedad injerto contra huésped asociada a transfusiones (Eichat) en los que la biopsia de piel jugó un papel central en la orientación diagnóstica. El primero correspondió a una niña de 2 años con anemia de Blackfan-Diamond que desarrolló el proceso inmune dos semanas después de recibir dos transfusiones de glóbulos rojos sedimentados. El estudio del HLA linfocitario mostró la presencia de 3 HLA-A, dos de los cuales estaban en los dadores. El segundo caso transfusiones de sangre completa.Ambos casos se acompañaron de un grave compromiso medular y en la biopsia de piel se reconoció el patrón de apoptosis de queratinocitos con satelitosis linfocitaria. Estos hallazgos histológicos, aunque altamente sugestivos, deen ser evaluados en el contexto clínico del paciente
Assuntos
Humanos , Lactente , Pré-Escolar , Masculino , Feminino , Doença Enxerto-Hospedeiro/etiologia , Transfusão de Sangue/efeitos adversos , Medula Óssea/patologia , Doença Enxerto-Hospedeiro/patologia , Antígenos HLA-A/análise , Pele/patologiaRESUMO
Se presentaron dos casos de enfermedad injerto contra huésped asociada a transfusiones (Eichat) en los que la biopsia de piel jugó un papel central en la orientación diagnóstica. El primero correspondió a una niña de 2 años con anemia de Blackfan-Diamond que desarrolló el proceso inmune dos semanas después de recibir dos transfusiones de glóbulos rojos sedimentados. El estudio del HLA linfocitario mostró la presencia de 3 HLA-A, dos de los cuales estaban en los dadores. El segundo caso transfusiones de sangre completa.Ambos casos se acompañaron de un grave compromiso medular y en la biopsia de piel se reconoció el patrón de apoptosis de queratinocitos con satelitosis linfocitaria. Estos hallazgos histológicos, aunque altamente sugestivos, deen ser evaluados en el contexto clínico del paciente (AU)