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1.
Indian J Pathol Microbiol ; 62(4): 614-617, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31611454

RESUMO

Pediatric small round cell tumors (PSRCTs) constitute a large proportion of childhood malignancies with overlapping diagnostic and clinical features but radically different therapies. Here, we report a case of 16-year-old male child presenting with diffuse abdominal and mediastinal mass, axillary lymphadenopathy, and pleural effusion. Bone marrow aspirate showed near total replacement by small round malignant cells. The bone marrow biopsy showed interstitial infiltration by malignant cells, which were CD45- CD3- CD20- MIC2+ FLI1+ and diagnosis of Ewing's sarcoma was established. In contrast, flowcytometric immunophenotyping of the bone marrow aspirate showed CD45- cells, which were CD19+ cytCD79a+ CD10+ CD81+ CD38+ HLA-DR+ CD22+ CD20- consistent with B-cell acute lymphoblastic leukemia (B-ALL). The extended immunostaining panel on bone marrow biopsy also showed positivity for cytCD79a, CD10, CD19, and BCL-2, whereas fluorescent in-situ hybridization for EWSR1 gene rearrangement was negative. Thus, a final diagnosis of CD45- FLI1+ MIC2+ B-ALL was established. Rare cases of CD45- B-ALL with immunoreactivity for MIC2 and Friend leukemia virus integration 1 (FLI1) have posed a diagnostic challenge for PSRCTs in the recent past. This case report highlights the role of multimodality approach in establishing a correct diagnosis in CD45- PSRCTs to ensure definitive therapy and better clinical outcome.


Assuntos
Antígeno 12E7/genética , Linfoma de Burkitt/patologia , Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proteína Proto-Oncogênica c-fli-1/genética , Adolescente , Biópsia , Medula Óssea/patologia , Neoplasias Ósseas , Tumor Desmoplásico de Pequenas Células Redondas/genética , Citometria de Fluxo , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Sarcoma de Ewing
3.
Int Ophthalmol ; 39(2): 471-475, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29383463

RESUMO

PURPOSE: Desmoplastic small round cell tumor is a rare malignant neoplasm that most often occurs in the abdomen or pelvis of young men. We herein describe a rare case of desmoplastic small round cell tumor arising from the left orbit in a 16-year-old male. METHODS AND RESULTS: A biopsy was performed and the histology showed the nests of tumor cells with small round cell morphology. The tumor cells showed immunopositivity for desmin, CD99, CD56, SMA, NSE, CgA, SYN, Ki67 and vimentin. Fluorescence in situ hybridization study using EWSR1 break-apart probe was positive for EWSR1 gene rearrangement. After complete surgical resection of the tumor, we did not find tumor recurrence or metastasis with one-year follow-up. Furthermore, a review of the relevant English literature has been discussed. CONCLUSIONS: In the present study, for the first time, we report a case of desmoplastic small round cell tumor which is located in the orbital region.


Assuntos
Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Neoplasias Orbitárias/diagnóstico , Biomarcadores Tumorais/análise , Biópsia , Tumor Desmoplásico de Pequenas Células Redondas/metabolismo , Tumor Desmoplásico de Pequenas Células Redondas/cirurgia , Humanos , Procedimentos Cirúrgicos Oftalmológicos/métodos , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Tomografia Computadorizada por Raios X
5.
Medicine (Baltimore) ; 97(17): e0494, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29703011

RESUMO

RATIONALE: Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive and malignant tumor. This report describes a case involving DSRCT of the middle ear which no case has been reported in the literature till date. PATIENT CONCERN: A 59-year-old Chinese man with a 40-year history of repeated suppuration of his right ear and 1-year history of drooping of the angle of mouth. The CT of the middle ear and brain scan and enhanced MRI showed space occupying lesion in the right middle ear. DIAGNOSES: Desmoplastic small round cell tumor of the middle ear. INTERVENTIONS: After relevant examinations, radical mastoidectomy and subtotal temporal bone resection were performed on the right ear under general anesthesia. The patient underwent postoperative adjuvant chemoradiation therapy. OUTCOMES: The patient was counterchecked regularly,there was norecurrence of DSRCT of the middle ear. Four years after surgery, the CT and MRI of the middle ear mastoid showed right middle ear soft tissue shadow,but postoperative pathological results showed proliferative fibrous and vascular tissues with chronic inflammatory cell infiltration and necrosis. LESSONS: DSRCT is a relatively aggressive, malignant mesenchymal tumor, with a very poor prognosis.The diagnosis of DSRCT relies on immunohistological data. Early diagnosis, radical surgery, chemotherapy, and radiotherapy are considered a reasonable way to prolong survival.


Assuntos
Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Tumor Desmoplásico de Pequenas Células Redondas/patologia , Tumor Desmoplásico de Pequenas Células Redondas/terapia , Neoplasias da Orelha , Orelha Média , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico
6.
BMC Cancer ; 18(1): 338, 2018 03 27.
Artigo em Inglês | MEDLINE | ID: mdl-29587657

RESUMO

BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare malignant sarcoma with poor prognosis due to lack of effective treatments. Apatinib is a new potent oral small-molecule tyrosine kinase inhibitor, and targets the intracellular domain of vascular endothelial growth factor receptor 2 (VEGFR-2). In this study, we presented a case of intra-abdominal DSRCT which was effectively treated by apatinib. CASE PRESENTATION: A 32-year-old man was admitted due to increasing urination frequency and palpable mass in right lower abdomen for 2 months. The mass was resected and diagnosed DSRCT. The patient refused chemotherapy and radiotherapy,and used Chinese medicine only. Six months after the surgery, the patient re-hospitalized due to growing abdominal mass and ascites. Intraperitoneal cisplatin treatment showed little effect. Apatinib was then recommended. Apatinib revealed outstanding effect on reducing mass size and ascites during 2-month treatment. Apatinib therapy continued for additional 2 months, and the patient was in good condition. The only toxicity was hand-food syndrome, which was controllable and well tolerated. CONCLUSION: It is the first report that apatinib is effective on DSRCT. This report may provide an additional option for the treatment of metastatic DSRCT.


Assuntos
Antineoplásicos/uso terapêutico , Tumor Desmoplásico de Pequenas Células Redondas/tratamento farmacológico , Inibidores de Proteínas Quinases/uso terapêutico , Piridinas/uso terapêutico , Adulto , Antineoplásicos/farmacologia , Biópsia , Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Tumor Desmoplásico de Pequenas Células Redondas/metabolismo , Humanos , Imuno-Histoquímica , Imagem por Ressonância Magnética , Terapia de Alvo Molecular , Inibidores de Proteínas Quinases/farmacologia , Piridinas/farmacologia , Tomografia Computadorizada por Raios X , Resultado do Tratamento
7.
Digit J Ophthalmol ; 24(4): 31-35, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30800012

RESUMO

Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive malignancy that primarily involves the serosal surfaces of the abdomen and pelvis and has a poor prognosis. Orbital involvement is extremely rare. We report the case of a 2-month-old boy who presented with a right infraorbital mass consistent with a DSRCT and causing mass effect and superonasal globe displacement. To our knowledge, this is the first case of orbital DSRCT in an infant.


Assuntos
Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Neoplasias Orbitárias/diagnóstico , Diagnóstico Diferencial , Humanos , Lactente , Masculino
9.
Rev. bras. cancerol ; 64(4): 575-579, 2018.
Artigo em Português | LILACS | ID: biblio-1025129

RESUMO

Introdução: O tumor desmoplásico de pequenas células redondas é uma rara neoplasia que se inicia e se espalha pela superfície peritoneal. Foi descrito pela primeira vez em 1989 e, em 1991, houve seu reconhecimento como entidade clínica e patológica distintas. Relato do caso: Homem de 34 anos apresentou quadro de dor abdominal e perda de peso, evoluindo para obstrução intestinal dois meses após. A laparotomia demonstrou grande massa abdominopélvica irressecável. O laudo anatomopatológico associado à imuno-histoquímica evidenciou diagnóstico de tumor desmoplásico de pequenas células redondas. A tomografia computadorizada confirmou derrame pleural bilateral, implantes peritoneais e massas abdominais e pélvicas. Realizou-se quimioterapia com carbo/taxol com intervalo de 21 dias. Substituiu-se o esquema para VAC/IE com intervalo de 21 dias, com resposta parcial, porém ainda se mantendo um tumor irressecável. Houve piora progressiva da performance do paciente, com evolução ao óbito por obstrução intestinal no 15º mês de seguimento. Conclusão: O tumor desmoplásico de pequenas células redondas, em razão da sua raridade, continua sendo um desafio para o diagnóstico e o tratamento.


Introduction: The desmoplastic small round cell tumor is a rare neoplasm that starts and spreads through the peritoneal surface. It was first described in 1989 and in 1991 was recognized as a distinct clinical and pathological entity. Case report: A 34-year-old man presented with abdominal pain and weight loss, progressing to an intestinal obstruction after two months. Laparotomy showed an unresectable abdominopelvic mass. Anatomopathological an immunohistochemistry analysis showed a desmoplastic small-round-cell tumor. Computerized Tomography showed bilateral pleural effusion, peritoneal implants, along with masses in the abdominal and pelvic region. Chemotherapy with carbo/taxol was administered at intervals of 21-days. Later, the chemotherapy was changed to VAC/IE at a 21-day interval, with a partial response, but it was still an unresectable tumor. There was a worsening in patient performance, and he died of an abdominal obstruction on the 15º month of follow-up. Conclusion: Due to its rarity, the desmoplastic small-round-cell tumor, is still a diagnostic and treatment challenge.


Introducción: El tumor desmoplásico de células pequeñas y redondas es una neoplasia rara que comienza y se disemina a través de la superficie peritoneal. Fue descrito por primera vez en 1989 y en 1991 fue reconocido como una entidad clínica y patológica distintas. Relato del caso: Un hombre de 34 años presentó dolor abdominal y pérdida de peso, progresando a una obstrucción intestinal después de dos meses. La laparotomía mostró una masa abdominopélvica irresecable. El análisis anatomopatológico e inmunohistoquímico mostró un tumor desmoplásico de células pequeñas y redondas. La tomografía computarizada mostró derrame pleural bilateral, implantes peritoneales y masas en la región abdominal y pélvica. Se administró quimioterapia con carbo/taxol en un intervalo de 21 días. Más tarde, la quimioterapia cambió a VAC/IE con un intervalo de 21 días, con una respuesta parcial, pero seguía siendo un tumor irresecable. Hubo un empeoramiento en el estado del paciente, y murió de una obstrucción intestinal en el 15º mes de seguimiento. Conclusión: Debido a su rareza, tumor desmoplásico de células pequeñas y redondas, sigue siendo un desafío de diagnóstico y tratamiento.


Assuntos
Humanos , Masculino , Adulto , Cavidade Peritoneal/anormalidades , Neoplasias Peritoneais , Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Tecido Conjuntivo
10.
Virchows Arch ; 471(5): 631-640, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28748349

RESUMO

Desmoplastic small round cell tumor (DSRCT) is a rare, biologically aggressive soft tissue neoplasm of uncertain differentiation, most often arising in the abdominal and pelvic cavities of adolescents and young adults with a striking male predominance. Histologically, it is characterized by islands of uniform small round cells in prominent desmoplastic stroma, and it has a polyimmunophenotypic profile, typically expressing WT1 and cytokeratin, desmin, and neural/neuroendocrine differentiation markers to varying degrees. Tumors at other sites and with variant morphology are more rarely described. DSRCT is associated with a recurrent t(11;22)(p13;q12) translocation, leading to the characteristic EWSR1-WT1 gene fusion. Fluorescence in situ hybridization (FISH), to detect EWSR1 rearrangement, and reverse transcription-polymerase chain reaction (RT-PCR) to assess for EWSR1-WT1 fusion transcripts are routine diagnostic ancillary tools. We present a large institutional comparative series of FISH and RT-PCR for DSRCT diagnosis. Twenty-six specimens (from 25 patients) histologically diagnosed as DSRCT were assessed for EWSR1 rearrangement and EWSR1-WT1 fusion transcripts. Of these 26 specimens, 24 yielded positive results with either FISH or RT-PCR or both. FISH was performed in 23 samples, with EWSR1 rearrangement seen in 21 (91.3%). RT-PCR was performed in 18 samples, of which 13 (72.2%) harbored EWSR1-WT1 fusion transcripts. The sensitivity of FISH in detecting DSRCT was 91.3%, and that of RT-PCR was 92.8% following omission of four technical failures. Therefore, both methods are comparable in terms of sensitivity. FISH is more sensitive if technical failures for RT-PCR are taken into account, and RT-PCR is more specific in confirming DSRCT. Both methods complement each other by confirming cases that the other method may not. In isolation, FISH is a relatively non-specific diagnostic adjunct due to the number of different neoplasms that can harbor EWSR1 rearrangement, such as Ewing sarcoma. However, in cases with appropriate morphology and a typical pattern of immunostaining, FISH is confirmatory of the diagnosis.


Assuntos
Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Hibridização in Situ Fluorescente/métodos , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Adolescente , Adulto , Proteínas de Ligação a Calmodulina/análise , Proteínas de Ligação a Calmodulina/genética , Criança , Tumor Desmoplásico de Pequenas Células Redondas/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas de Fusão Oncogênica/análise , Proteínas de Fusão Oncogênica/genética , Proteína EWS de Ligação a RNA , Proteínas de Ligação a RNA/análise , Proteínas de Ligação a RNA/genética , Adulto Jovem
11.
Semin Pediatr Surg ; 25(5): 299-304, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27955733

RESUMO

Desmoplastic small round cell tumor (DSRCT) is a soft tissue sarcoma of mesenchymal cell origin that typically presents with multiple intra-abdominal tumors and exhibits a multi-phenotypic pattern of immunohistochemical staining. The specific organ or tissue type of origin has yet to be identified. DSRCT rarely arises as a singular tumor in the abdomen; in most cases, there are dozens to hundreds of abdominal peritoneal tumors that are detected on diagnosis. One very large dominant mass is usually present in the omentum, with an additional one or two large conglomerates of tumors in the pelvis and right peritoneum, respectively. Despite an often overwhelmingly large number of abdominal tumors, symptoms of bowel obstruction are rare. Ascites may be present. In late stages, pleural effusions, pleural implants, mediastinal adenopathy, supraclavicular adenopathy, or bone metastasis may be present. With this challenging disease, multidisciplinary therapy, including aggressive surgery, is warranted. This review will address DSRCT biology and treatment options and discuss outcomes.


Assuntos
Tumor Desmoplásico de Pequenas Células Redondas , Neoplasias Peritoneais , Antineoplásicos/uso terapêutico , Quimioterapia Adjuvante , Procedimentos Cirúrgicos de Citorredução , Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Tumor Desmoplásico de Pequenas Células Redondas/patologia , Tumor Desmoplásico de Pequenas Células Redondas/terapia , Humanos , Estadiamento de Neoplasias , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/patologia , Neoplasias Peritoneais/terapia , Peritônio/cirurgia , Radioterapia Adjuvante
12.
Malays J Pathol ; 38(2): 149-52, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27568672

RESUMO

A 50-year-old male of Indian descent presented with jaundice and right hypochondrium pain. Following a computed tomography (CT) scan of the abdomen, a segment 7 liver lesion was visualized, accompanied by extensive peritoneal tumour deposits. An ultrasound guided liver biopsy was performed and histology showed loose nests and sheets of tumour cells with a small blue round cell morphology. The tumour cells showed patchy strong immunopositivity for cytokeratins (AE1/3, CK7, CK19) and synaptophysin, while showing diffuse strong perinuclear positivity for desmin. Interphase fluorescence in-situ hybridization (FISH) study using EWSR1 breakapart probe was positive for EWSR1 gene rearrangement. Desmoplastic small round cell tumour is a rare but aggressive intra-abdominal mesenchymal tumour. While the primary sites of involvement are usually the peritoneum and omentum, visceral involvement can occur. We wish to highlight the importance of considering this entity when evaluating a liver biopsy especially in a less than classical clinical context.


Assuntos
Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Neoplasias Hepáticas/diagnóstico , Biomarcadores Tumorais/análise , Biópsia , Proteínas de Ligação a Calmodulina/genética , Tumor Desmoplásico de Pequenas Células Redondas/genética , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica/patologia , Proteína EWS de Ligação a RNA , Proteínas de Ligação a RNA/genética , Translocação Genética
13.
APMIS ; 124(4): 245-51, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26994733

RESUMO

Desmoplastic nested spindle cell tumour of liver (DNSTL), nested stromal-epithelial tumour (NSET) and calcifying nested stromal-epithelial tumour (CNSET) are recently described entities with similar morphology, immunohistochemistry and molecular genetics. These are rare entities with only three large case series described till date. These tumours commonly present in the paediatric age group. NSETs, in addition have been described to be associated with ectopic adrenocorticotropic hormone (ACTH) production and Cushingoid features. It is important to discuss this rare group of tumours with a low malignant potential as the most common radiological differential diagnosis is hepatoblastoma, which has a relatively poorer prognosis. Thus, a pathologist needs to keep this entity in mind, so as to offer a correct histological diagnosis.


Assuntos
Carcinoma/diagnóstico , Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Hepatoblastoma/diagnóstico , Neoplasias Hepáticas/diagnóstico , Fígado/patologia , Adolescente , Hormônio Adrenocorticotrópico/genética , Hormônio Adrenocorticotrópico/metabolismo , Carcinoma/genética , Carcinoma/metabolismo , Carcinoma/patologia , Criança , Pré-Escolar , Tumor Desmoplásico de Pequenas Células Redondas/genética , Tumor Desmoplásico de Pequenas Células Redondas/metabolismo , Tumor Desmoplásico de Pequenas Células Redondas/patologia , Diagnóstico Diferencial , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Expressão Gênica , Hepatoblastoma/genética , Hepatoblastoma/metabolismo , Hepatoblastoma/patologia , Humanos , Fígado/metabolismo , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/metabolismo , Neoplasias Hepáticas/patologia , Prognóstico , Células Estromais/metabolismo , Células Estromais/patologia , Adulto Jovem
15.
J Radiol Case Rep ; 9(8): 1-7, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26629298

RESUMO

Desmoplastic small round cell tumor is a rare, aggressive tumor primarily affecting young males. It is considered a childhood cancer, and is characterized by a unique chromosomal translocation which leads to failure to suppress tumor growth. It is classified as a soft tissue sarcoma, sharing some features with other small round cell tumors such as Ewing's Sarcoma and primitive neuroectodermal tumor. Typical imaging findings include multiple heterogeneous, lobular abdominal masses, which can grow very large. Often there is a dominant mass with additional peritoneal, omental, retroperitoneal and retrovesical masses. Prognosis is relatively poor with a 3 year survival rate of 50% in those treated aggressively with surgical resection, chemotherapy, and radiation therapy. The clinical presentation, imaging characteristics and pathology are discussed in regards to a recent case.


Assuntos
Neoplasias Abdominais/diagnóstico , Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Neoplasias Abdominais/patologia , Neoplasias Abdominais/terapia , Adulto , Terapia Combinada , Tumor Desmoplásico de Pequenas Células Redondas/patologia , Tumor Desmoplásico de Pequenas Células Redondas/terapia , Diagnóstico Diferencial , Diagnóstico por Imagem , Humanos , Masculino , Resultado do Tratamento
16.
J Cancer Res Ther ; 11(3): 650, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26458624

RESUMO

The purpose of this study is to describe the aggressive clinical behavior of desmoplastic small round cell tumor (DSRCT) of the testis and review of the literature. A 17-year-old male having painless testicular mass and neck swelling diagnosed to have metastatic DSRCT of the testis. Patient received aggressive chemotherapy with P6 protocol. The patient progressed on treatment and died due to extensive metastasis. Primary DSRCT of the testis is extremely rare mesenchymal tumor occurring in adolescence, with a tendency for extensive metastases. Management should be multimodal approach with aggressive polychemotherapy, surgical tumor debulking and radiotherapy. However the overall prognosis is very poor with <20% survival rates at 2 years.


Assuntos
Tumor Desmoplásico de Pequenas Células Redondas/terapia , Prognóstico , Neoplasias Testiculares/terapia , Adolescente , Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Tumor Desmoplásico de Pequenas Células Redondas/patologia , Humanos , Masculino , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/patologia
20.
Clin Imaging ; 39(5): 904-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26093512

RESUMO

Desmoplastic small round cell tumor (DSRCT) is a rare, high-grade sarcoma seen in children and young adults. DSRCT of the kidney is extremely uncommon, but has been described in both pediatric and adult populations. Here we present an unusual manifestation of renal DSRCT in a boy whose imaging studies revealed a well-circumscribed mass confined to the urinary collecting system, rather than a large aggressive-appearing mass typically associated with DSRCT, which highlights the varied clinical and imaging features of this disease.


Assuntos
Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Diagnóstico por Imagem/métodos , Neoplasias Renais/diagnóstico , Imagem por Ressonância Magnética/métodos , Criança , Diagnóstico Diferencial , Humanos , Rim/diagnóstico por imagem , Rim/patologia , Masculino , Tomografia Computadorizada por Raios X , Ultrassonografia
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