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1.
Blood ; 135(4): 274-286, 2020 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-31738823

RESUMO

Pediatric large B-cell lymphomas (LBCLs) share morphological and phenotypic features with adult types but have better prognosis. The higher frequency of some subtypes such as LBCL with IRF4 rearrangement (LBCL-IRF4) in children suggests that some age-related biological differences may exist. To characterize the genetic and molecular heterogeneity of these tumors, we studied 31 diffuse LBCLs (DLBCLs), not otherwise specified (NOS); 20 LBCL-IRF4 cases; and 12 cases of high-grade B-cell lymphoma (HGBCL), NOS in patients ≤25 years using an integrated approach, including targeted gene sequencing, copy-number arrays, and gene expression profiling. Each subgroup displayed different molecular profiles. LBCL-IRF4 had frequent mutations in IRF4 and NF-κB pathway genes (CARD11, CD79B, and MYD88), losses of 17p13 and gains of chromosome 7, 11q12.3-q25, whereas DLBCL, NOS was predominantly of germinal center B-cell (GCB) subtype and carried gene mutations similar to the adult counterpart (eg, SOCS1 and KMT2D), gains of 2p16/REL, and losses of 19p13/CD70. A subset of HGBCL, NOS displayed recurrent alterations of Burkitt lymphoma-related genes such as MYC, ID3, and DDX3X and homozygous deletions of 9p21/CDKN2A, whereas other cases were genetically closer to GCB DLBCL. Factors related to unfavorable outcome were age >18 years; activated B-cell (ABC) DLBCL profile, HGBCL, NOS, high genetic complexity, 1q21-q44 gains, 2p16/REL gains/amplifications, 19p13/CD70 homozygous deletions, and TP53 and MYC mutations. In conclusion, these findings further unravel the molecular heterogeneity of pediatric and young adult LBCL, improve the classification of this group of tumors, and provide new parameters for risk stratification.

2.
Cancer Lett ; 386: 196-207, 2017 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-27894957

RESUMO

Epigenetic modifications have been shown to be important in developmental tumors as Ewing sarcoma. We profiled the DNA methylation status of 15 primary tumors, 7 cell lines, 10 healthy tissues and 4 human mesenchymal stem cells lines samples using the Infinium Human Methylation 450K. Differential methylation analysis between Ewing sarcoma and reference samples revealed 1166 hypermethylated and 864 hypomethylated CpG sites (Bonferroni p < 0.05, δ-ß-value with absolute difference of >0.20) corresponding to 392 and 470 genes respectively. Gene Ontology analysis of genes differentially methylated in Ewing sarcoma samples showed a significant enrichment of developmental genes. Membrane and cell signal genes were also enriched, among those, 11 were related to caveola formation. We identified differential hypermethylation of CpGs located in the body and S-Shore of the PTRF gene in Ewing sarcoma that correlated with its repressed transcriptional state. Reintroduction of PTRF/Cavin-1 in Ewing sarcoma cells revealed a role of this protein as a tumor suppressor. Restoration of caveolae in the membrane of Ewing sarcoma cells, by exogenously reintroducing PTRF, disrupts the MDM2/p53 complex, which consequently results in the activation of p53 and the induction of apoptosis.


Assuntos
Neoplasias Ósseas/genética , Caveolina 1/genética , Metilação de DNA , Epigênese Genética , Perfilação da Expressão Gênica/métodos , Genes Supressores de Tumor , Proteínas de Ligação a RNA/genética , Sarcoma de Ewing/genética , Animais , Apoptose , Neoplasias Ósseas/metabolismo , Neoplasias Ósseas/patologia , Caveolina 1/metabolismo , Linhagem Celular Tumoral , Proliferação de Células , Regulação Neoplásica da Expressão Gênica , Humanos , Estimativa de Kaplan-Meier , Camundongos Nus , Fosforilação , Proteínas Proto-Oncogênicas c-mdm2/genética , Proteínas Proto-Oncogênicas c-mdm2/metabolismo , Proteínas de Ligação a RNA/metabolismo , Sarcoma de Ewing/metabolismo , Sarcoma de Ewing/patologia , Transdução de Sinais , Espanha , Transfecção , Carga Tumoral , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo
3.
Oncotarget ; 7(37): 58759-58767, 2016 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-27577084

RESUMO

Ewing sarcomas (ES) are pediatric bone tumors that arise from a driver translocation, most frequently EWS/FLI1. Current ES treatment involves DNA damaging agents, yet the basis for the sensitivity to these therapies remains unknown. Oncogene-induced replication stress (RS) is a known source of endogenous DNA damage in cancer, which is suppressed by ATR and CHK1 kinases. We here show that ES suffer from high endogenous levels of RS, rendering them particularly dependent on the ATR pathway. Accordingly, two independent ATR inhibitors show in vitro toxicity in ES cell lines as well as in vivo efficacy in ES xenografts as single agents. Expression of EWS/FLI1 or EWS/ERG oncogenic translocations sensitizes non-ES cells to ATR inhibitors. Our data shed light onto the sensitivity of ES to genotoxic agents, and identify ATR inhibitors as a potential therapy for Ewing Sarcomas.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias Ósseas/metabolismo , Sarcoma de Ewing/metabolismo , Animais , Apoptose , Proteínas Mutadas de Ataxia Telangiectasia/antagonistas & inibidores , Proteínas Mutadas de Ataxia Telangiectasia/genética , Neoplasias Ósseas/tratamento farmacológico , Neoplasias Ósseas/genética , Linhagem Celular Tumoral , Dano ao DNA , Regulação Neoplásica da Expressão Gênica , Humanos , Masculino , Camundongos , Camundongos SCID , RNA Interferente Pequeno/genética , Proteína EWS de Ligação a RNA/genética , Sarcoma de Ewing/tratamento farmacológico , Sarcoma de Ewing/genética , Transdução de Sinais , Ensaios Antitumorais Modelo de Xenoenxerto
4.
Dermatol Online J ; 22(3)2016 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-27136631

RESUMO

UNLABELLED: Cutaneous leishma iasis (CL) is zoonosis with a spectrum of cutaneous manifestations caused by protozoan parasites of thegenus Leishmania.Manifestation varies according to the parasite virulence and the host immune response. Pentavalent antimonials (sodium stibogluconate and meglumine antimoniate) have been used as a first-line therapy for the last 70 years around the world.We report a case of a 1-year-old boy with two small yellowish papules mimicking juvenile xantogranuloma diagnosed with cutaneous leishmaniasis after a biopsy. Patient underwent treatment with 2 sessions of intralesional (IL) meglumine antimoniate (Glucantime®) with complete clearance of both lesions. CONCLUSION: Cutaneous leishmaniasis treatment is difficult to standardize; treatment options in children include wound careand watchful waiting,  intralesional pentavalent antimonials, topical paramomycin, or oral miltefosine.


Assuntos
Dermatoses Faciais/patologia , Leishmaniose Cutânea/patologia , Antiprotozoários/uso terapêutico , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/tratamento farmacológico , Humanos , Lactente , Injeções Intralesionais , Leishmaniose Cutânea/diagnóstico , Leishmaniose Cutânea/tratamento farmacológico , Masculino , Meglumina/uso terapêutico , Antimoniato de Meglumina , Compostos Organometálicos/uso terapêutico , Pele/patologia
5.
Fetal Pediatr Pathol ; 34(5): 315-21, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26207391

RESUMO

Primary cutaneous Ewing's sarcoma is a rare entity. Although the diagnosis may be very difficult, it can be confirmed through molecular biology. We present the case of a 13-years old male with a lesion in the sole of the right foot, characterized by a monomorphous proliferation of small, round and blue cells. The histology and molecular biology allowed us to perform the diagnosis of cutaneous Ewing's sarcoma. This neoplasm must be distinguished from other round cell tumors with cutaneous involvement. The prognosis and treatment of this rare disease will also be discussed.


Assuntos
Sarcoma de Ewing/patologia , Neoplasias Cutâneas/patologia , Adolescente , Biomarcadores Tumorais/análise , Proteínas de Ligação a Calmodulina/genética , Pé/patologia , Rearranjo Gênico , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Proteína EWS de Ligação a RNA , Proteínas de Ligação a RNA/genética , Sarcoma de Ewing/genética , Neoplasias Cutâneas/genética
6.
Pediatr Dermatol ; 31(4): 523-5, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24846714

RESUMO

Prurigo pigmentosa (PP) is an inflammatory skin disease of unknown origin. The skin lesions in PP are symmetrically distributed on the back, chest, and neck. Pruritus is a prominent feature in many cases. We report on a 13-year-old girl with lesions typical of PP in a segmental arrangement on her left chest. A segmental distribution of PP has not been previously reported.


Assuntos
Transtornos da Pigmentação/etiologia , Prurigo/etiologia , Adolescente , Exantema/etiologia , Feminino , Humanos , Transtornos da Pigmentação/patologia , Prurigo/patologia
7.
J Am Acad Dermatol ; 70(2): 288-90, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24342755

RESUMO

BACKGROUND: Acquired hyperpigmented lesions in early childhood can be the presenting sign of serious diseases or benign conditions and often cause significant parental anxiety. OBJECTIVE: We sought to report a series of 25 young children with hyperpigmented macules on the forehead and temples without preceding erythema, edema, or desquamation. METHODS: We conducted a retrospective review of 25 children with similar clinical findings, seen from 2009 to 2013, from 5 medical centers in 3 countries. RESULTS: There were 13 boys and 12 girls of many races. Their ages ranged from 2 to 24 months (mean 12.2 months, median 6 months). The hyperpigmentation presented abruptly in the summer (12 cases), spring (5 cases), winter (5), and fall (2), and was not clearly specified in 1 case. Histopathologic analysis in 3 cases was consistent with postinflammatory hyperpigmentation. After a follow-up period ranging from 3 months to 4.5 years, the lesions persist to a variable degree in 19 cases in which follow-up was possible. LIMITATIONS: The age of our patients precluded patch testing and/or invasive diagnostic methods. CONCLUSIONS: The clinical features and prolonged clinical course over years do not correspond with any known or previously described cause of acquired facial hyperpigmented macules in young children.


Assuntos
Dermatoses Faciais/diagnóstico , Hiperpigmentação/diagnóstico , Hiperpigmentação/epidemiologia , Fatores Etários , Biópsia por Agulha , Colúmbia Britânica , California , Pré-Escolar , Estudos de Coortes , Dermatoses Faciais/epidemiologia , Dermatoses Faciais/patologia , Feminino , Seguimentos , Humanos , Hiperpigmentação/patologia , Imuno-Histoquímica , Lactente , Masculino , Estudos Retrospectivos , Medição de Risco , Fatores Sexuais , Espanha , Fatores de Tempo
8.
Int J Surg Pathol ; 21(2): 173-6, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22832109

RESUMO

Ewing sarcoma is the second most common pediatric malignant bone neoplasm after osteosarcoma. Ewing sarcoma comprises "small, round, blue-cell" tumors thought to arise from neural crest cells. The authors report the case of a 14-year-old boy that presented with a nonpainful circumscribed lesion. The radiographs showed a lytic lesion at the tibial epiphysis with a large soft tissue mass, best depicted in the magnetic resonance imaging scan that suggested an aggressive lesion. A needle biopsy of the lesion was performed. The diagnosis of Ewing sarcoma was made based on microscopic, immunohistochemical, polymerase chain reaction, and fluorescence in situ hybridization. This is the third case report about a primary epiphyseal Ewing sarcoma and the fist one with molecular confirmation.


Assuntos
Neoplasias Ósseas/genética , Neoplasias Ósseas/patologia , Epífises/patologia , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Adolescente , Proteínas de Ligação a Calmodulina/genética , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Imagem por Ressonância Magnética , Masculino , Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/genética , Proteína EWS de Ligação a RNA , Proteínas de Ligação a RNA/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Tíbia
9.
J Am Acad Dermatol ; 66(4): 617-21, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21839539

RESUMO

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin. OBJECTIVE: We sought to describe a new type of complex hamartoma in patients with TSC. METHODS: This was a retrospective clinical and histopathologic evaluation of 6 cases. RESULTS: The skin lesions consisted of large, painless, infiltrated plaques that were first noticed at birth or during early infancy on the abdomen, thigh, back, or scalp. In time, the plaques became studded with numerous follicular comedo-like openings and cysts containing and draining a keratinous or purulent material. The main histopathologic features were: abundant collagen deposition in the dermis and extending into the underlying fat; concentric, perifollicular fibrosis surrounding hair follicles; and comedones and keratin-containing cysts lined by infundibular epithelium, some of which were ruptured with secondary granulomatous reaction. Five of the 6 patients had a clinical diagnosis of TSC. LIMITATIONS: Genetic testing was performed in only one patient. CONCLUSION: This distinctive folliculocystic and collagen hamartoma has not been recognized previously in association with TSC.


Assuntos
Hamartoma/etiologia , Hamartoma/patologia , Dermatopatias/patologia , Esclerose Tuberosa/complicações , Colágeno/biossíntese , Hamartoma/metabolismo , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Dermatopatias/metabolismo
10.
J Cutan Pathol ; 38(12): 967-72, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21752049

RESUMO

Dermatomyofibroma represents a rare benign fibroblastic/ myofibroblastic cutaneous tumor that mostly occurs in young adult women. It has been seldom reported in pediatric patients. In this analysis, the clinical, histopathological and immunohistochemical findings of 12 dermatomyofibromas occurring in patients up to 16 years of age are compared with those reported in adults. Six patients were male and six were female. Nine lesions were located on the neck, two on the back and one involved the chest. The usual presentation was as an asymptomatic plaque composed of bland spindled cells arranged in dermal fascicles that were oriented parallel to the epidermis. Immunohistochemically, the lesional cells expressed calponin in 11 cases, smooth muscle actin in six and muscle-specific actin in three. In contrast to prior reports from adults, dermatomyofibromas in pediatric patients do not show a female predilection. In addition, they are mostly located on the neck (56%), while in adults the most frequent location is the shoulder (35%). Dermatomyofibromas seem to stabilize after an initial period of enlargement. Punch biopsy and clinical follow up could be an alternative approach to the surgical excision in some cases of dermatomyofibroma, particularly in instances in which surgery might inflict cosmetic defects.


Assuntos
Neoplasias de Cabeça e Pescoço/patologia , Histiocitoma Fibroso Benigno/patologia , Miofibroma/patologia , Neoplasias Cutâneas/patologia , Actinas/biossíntese , Adolescente , Adulto , Proteínas de Ligação ao Cálcio/biossíntese , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Seguimentos , Regulação Neoplásica da Expressão Gênica , Neoplasias de Cabeça e Pescoço/metabolismo , Neoplasias de Cabeça e Pescoço/cirurgia , Histiocitoma Fibroso Benigno/metabolismo , Histiocitoma Fibroso Benigno/cirurgia , Humanos , Imuno-Histoquímica/métodos , Masculino , Proteínas dos Microfilamentos/biossíntese , Miofibroma/metabolismo , Miofibroma/cirurgia , Proteínas de Neoplasias/biossíntese , Estudos Retrospectivos , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/cirurgia
11.
Pediatr Dermatol ; 26(6): 709-12, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20199446

RESUMO

Juvenile xanthogranuloma is a benign and self-limited disease which usually appears in the skin of children. Visceral involvement has been rarely reported, as has fatal outcome in some affected individuals. We report a case of systemic juvenile xanthogranuloma in a female newborn with mainly skin, bone marrow, and liver involvement, leading to death at the age of 2 months.


Assuntos
Falência Hepática/patologia , Pancitopenia/patologia , Pele/patologia , Xantogranuloma Juvenil/patologia , Biópsia , Evolução Fatal , Feminino , Histiócitos/patologia , Humanos , Recém-Nascido , Fígado/patologia
12.
J Pediatr Orthop B ; 17(6): 301-5, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18841064

RESUMO

Florid reactive periostitis ossificans is a well-known benign lesion classically described in hands and feet which histopathological features can lead to a misdiagnosis of osteosarcoma. To the best of our knowledge, there is only one previous report of this lesion in a long bone. In this study we report a case of florid reactive periostitis ossificans located in the distal metaphysis of the left femur that histologically mimicked an osteosarcoma and discuss the differential diagnosis between these two entities to warn about a diagnostic pitfall.


Assuntos
Neoplasias Ósseas/diagnóstico , Fêmur/patologia , Osteossarcoma/diagnóstico , Periostite/diagnóstico , Sedimentação Sanguínea , Criança , Diagnóstico Diferencial , Feminino , Fêmur/diagnóstico por imagem , Humanos , Joelho/diagnóstico por imagem , Joelho/patologia , Contagem de Leucócitos , Dor , Periostite/sangue , Periostite/diagnóstico por imagem , Tomografia Computadorizada por Raios X
13.
Clin Cancer Res ; 13(8): 2429-40, 2007 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-17438102

RESUMO

PURPOSE: Tumors of the Ewing family are characterized by chromosomal translocations that yield chimeric transcription factors, such as EWS/FLI1, which regulate the expression of specific genes that contribute to the malignant phenotype. In the present study, we show that cholecystokinin (CCK) is a new target of the EWS/FLI1 oncoprotein and assess its functional role in Ewing tumor pathogenesis. EXPERIMENTAL DESIGN: Relevant EWS/FLI1 targets were identified using a combination of cell systems with inducible EWS/FLI1 expression, Ewing tumors and cell lines, microarrays, and RNA interference with doxycycline-inducible small hairpin RNA (shRNA) vectors. A doxycycline-inducible CCK-shRNA vector was stably transfected in A673 and SK-PN-DW Ewing cell lines to assess the role of CCK in cell proliferation and tumor growth. RESULTS: Microarray analysis revealed that CCK was up-regulated by EWS/FLI1 in HeLa cells. CCK was overexpressed in Ewing tumors as compared with other pediatric malignancies such as rhabdomyosarcoma and neuroblastoma, with levels close to those detected in normal tissues expressing the highest levels of CCK. Furthermore, EWS/FLI1 knockdown in A673 and SK-PN-DW Ewing cells using two different doxycycline-inducible EWS/FLI1-specific shRNA vectors down-regulated CCK mRNA expression and diminished the levels of secreted CCK, showing that CCK is a EWS/FLI1 specific target gene in Ewing cells. A doxycycline-inducible CCK-specific shRNA vector successfully down-regulated CCK expression, reduced the levels of secreted CCK in Ewing cell lines, and inhibited cell growth and proliferation in vitro and in vivo. Finally, we show that Ewing cell lines and tumors express CCK receptors and that the growth inhibition produced by CCK silencing can be rescued by culturing the cells with medium containing CCK. CONCLUSIONS: Our data support the hypothesis that CCK acts as an autocrine growth factor stimulating the proliferation of Ewing cells and suggest that therapies targeting CCK could be promising in the treatment of Ewing tumors.


Assuntos
Neoplasias Ósseas/patologia , Colecistocinina/genética , Interferência de RNA , Sarcoma de Ewing/patologia , Neoplasias Ósseas/genética , Divisão Celular , Linhagem Celular Tumoral , Clonagem Molecular , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Substâncias de Crescimento , Células HeLa , Humanos , Análise de Sequência com Séries de Oligonucleotídeos , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sarcoma de Ewing/genética
14.
Pediatr Dermatol ; 23(5): 484-7, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17014648

RESUMO

A number of dermatoses have been reported to appear in close temporal or spatial relationship to the intramuscular injection of vaccines. We describe two young children who had morphea consistent with the deep morphea type (morphea profunda) that appeared at the site of a previous vaccination. Trauma has been implicated as an important trigger of morphea, both in children and in adults. Furthermore, vaccines might induce an immune response, which could lead to morphea in predisposed individuals.


Assuntos
Vacina contra Difteria, Tétano e Coqueluche/administração & dosagem , Injeções Intramusculares/efeitos adversos , Vacina contra Sarampo-Caxumba-Rubéola/administração & dosagem , Esclerodermia Localizada/etiologia , Vacinação/efeitos adversos , Pré-Escolar , Vacina contra Difteria, Tétano e Coqueluche/efeitos adversos , Feminino , Humanos , Lactente , Masculino , Vacina contra Sarampo-Caxumba-Rubéola/efeitos adversos , Esclerodermia Localizada/patologia
15.
Actas dermo-sifiliogr. (Ed. impr.) ; 96(3): 188-190, abr. 2005. ilus
Artigo em Espanhol | IBECS | ID: ibc-037605

RESUMO

El rabdomiosarcoma es el tumor maligno de partes blandas más frecuente en la edad pediátrica; sin embargo, la localización vulvar y la aparición congénita son excepcionales. Presentamos el caso de una niña recién nacida con un rabdomiosarcoma botrioides de vulva tratada con quimioterapia, cirugía conservadora y trasplante autólogo. El rabdomiosarcoma botrioides es una variante del tipo embrionario que crece típicamente en órganos huecos con revestimiento mucoso desde donde puede extenderse hacia la superficie corporal. El tratamiento del rabdomiosarcoma botriodes del área genitourinaria se basa en la poliquimioterapia y, si es necesario, se puede complementar con radioterapia y cirugía conservadora, consiguiéndose de este modo un pronóstico excelente y escasas secuelas funcionales a largo plaz


Rhabdomyosarcoma is the most frequent malignant soft tissue tumor in pediatric patients; however, the vulvar location and congenital appearance are exceptional. We present the case of a newborn girl with botryoid rhabdomyosarcoma of the vulva, treated with chemotherapy, conservative surgery and autologous transplant. Botryoid rhabdomyosarcoma is a variation of embryonal rhabdomyosarcoma that typically grows in mucosa-lined hollow organs, from where it can spread to the body surface. The treatment of botryoid rhabdomyosarcoma in the genito-urinary area is based on polychemotherapy, and it can be complemented with radiotherapy and conservative surgery if necessary, thus resulting in an excellent prognosis and few long-term functional sequelae


Assuntos
Recém-Nascido , Feminino , Humanos , Rabdomiossarcoma/diagnóstico , Rabdomiossarcoma/tratamento farmacológico , Quimioterapia Combinada , Imuno-Histoquímica/métodos , Imuno-Histoquímica , Rabdomiossarcoma , Rabdomiossarcoma/radioterapia , Vulva/anormalidades , Vulva/patologia , Tomografia Computadorizada de Emissão , Imagem por Ressonância Magnética , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/tratamento farmacológico
16.
Actas Dermosifiliogr ; 96(3): 188-90, 2005 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-16476365

RESUMO

Rhabdomyosarcoma is the most frequent malignant soft tissue tumor in pediatric patients; however, the vulvar location and congenital appearance are exceptional. We present the case of a newborn girl with botryoid rhabdomyosarcoma of the vulva, treated with chemotherapy, conservative surgery and autologous transplant. Botryoid rhabdomyosarcoma is a variation of embryonal rhabdomyosarcoma that typically grows in mucosa-lined hollow organs, from where it can spread to the body surface. The treatment of botryoid rhabdomyosarcoma in the genito-urinary area is based on polychemotherapy, and it can be complemented with radiotherapy and conservative surgery if necessary, thus resulting in an excellent prognosis and few long-term functional sequelae.


Assuntos
Rabdomiossarcoma/congênito , Neoplasias Vulvares/congênito , Feminino , Humanos , Recém-Nascido , Rabdomiossarcoma/patologia , Neoplasias Vulvares/patologia
18.
Diagn Cytopathol ; 30(1): 46-50, 2004 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-14696145

RESUMO

We report the FNA features of a congenital malignant extrarenal rhabdoid tumor (MERT) located in the right paratesticular area of a newborn full-term boy (39 wk gestation), with disseminated metastases in the liver and right parietal region. The diagnosis was suggested two days after birth by fine-needle aspiration biopsy (FNAB) of the parietal mass, which demonstrated an atypical large cell proliferation with vesicular nuclei, prominent nucleoli, and abundant cytoplasm exhibiting paranuclear dense inclusions. The diagnosis was confirmed by histopathologic and immunohistochemical examination of the primary paratesticular tumor. To the best of our knowledge, this is the third MERT reported in the paratesticular region, one of the few congenital extrarenal non-central nervous system cases, and the third congenital case (renal or extrarenal) primarily diagnosed by FNAB. We emphasize the characteristic cytologic features of a congenital rhabdoid tumor, which must be known by pathologists because of the clinical and prognostic implications. Diagn. Cytopathol. 2004;30:46-50.


Assuntos
Neoplasias Hepáticas/secundário , Tumor Rabdoide/congênito , Tumor Rabdoide/patologia , Neoplasias Testiculares/congênito , Neoplasias Testiculares/patologia , Biópsia por Agulha Fina , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Recém-Nascido , Masculino , Rabdomiossarcoma/genética , Rabdomiossarcoma/patologia
19.
Arch Pathol Lab Med ; 127(10): e409-10, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14521441

RESUMO

Although a xanthogranuloma is a relatively common benign cutaneous condition and ossification has been observed within many cutaneous lesions, the association between ossification and xanthogranuloma has not, to our knowledge, been reported previously. We believe we describe for the first time the case of a xanthogranuloma with marked osseous metaplasia on the trunk of a 41-year-old woman. Microscopically, the lesion showed typical features of a xanthogranuloma, with the exceptional feature of exuberant bone formation. The presence of bone within this lesion is likely secondary to a metaplastic process.


Assuntos
Histiocitose de Células não Langerhans/patologia , Ossificação Heterotópica/patologia , Adulto , Derme/patologia , Feminino , Humanos , Metaplasia
20.
Actas dermo-sifiliogr. (Ed. impr.) ; 94(7): 454-457, sept. 2003. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-24812

RESUMO

Introducción: El nevo sebáceo de Jadassohn es un hamartoma que afecta a la epidermis, las glándulas ectópicas ecrinas, las apocrinas y los folículos pilosos. Clásicamente se ha descrito asociado a muchos tipos de neoplasias cutáneas. Material y métodos: Analizamos retrospectivamente todos los casos de nevos sebáceos del archivo del Departamento de Anatomía Patológica del Hospital 12 de Octubre de Madrid desde 1986 hasta 2001. Resultados: De los 366 casos estudiados, 207 eran varones y 159 mujeres. La edad media en el momento de diagnóstico fue de 38 años (límites, 2-85). Se extirparon 28 en niños menores de 16 años. En nuestra serie, las cuatro lesiones más frecuentemente asociadas a nevo sebáceo fueron la verruga vírica (4,09%), siringocistadenoma papilífero (3,27%), tricoblastoma (2,18%) y carcinoma basocelular (1,91%). La verruga vírica fue el hallazgo más frecuente en menores de 10 años con nevo sebáceo (edad media: 18,8; límite: 4-44). No se encontraron neoplasias malignas asociadas en menores de 27 años. Discusión: Como conclusión, nuestra experiencia apoya la idea de que la mayoría de las lesiones asociadas a nevo sebáceo en menores de 10 años son verrugas víricas. La presencia de una verruga vírica en un nevo no excluye la posible malignidad del proceso, aunque esta complicación sea poco frecuente en menores de 30 años. Dermatólogos y patólogos deben tener en cuenta estos hechos para mejorar el cuidado de estos pacientes (AU)


Assuntos
Adolescente , Adulto , Idoso , Feminino , Pré-Escolar , Masculino , Pessoa de Meia-Idade , Criança , Humanos , Hamartoma/epidemiologia , Cisto Epidérmico/complicações , Siringoma/epidemiologia , Verrugas/epidemiologia , Estudos Retrospectivos
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