RESUMO
We report a case of clear cell sarcoma that arose in the ileum and metastasized to the liver. The tumor cells did not contain melanin or glycogen; expressed S-100 protein, but not HMB45; and contained possible atypical melanosomes when examined by electron microscopy. They carried a clonal chromosomal rearrangement: 50,XY,t(2;7)(q37;q22),+8,+8,+9,+11, t(12;22)(q13;q12). The diagnosis was greatly facilitated by the cytogenetic analysis. The translocation t(12;22)(q13;q12-13) has been reported as specific for clear cell sarcomas.
Assuntos
Neoplasias do Íleo/patologia , Neoplasias Hepáticas/secundário , Sarcoma de Células Claras/secundário , Adulto , Biomarcadores Tumorais , Aberrações Cromossômicas , Citogenética , Humanos , Neoplasias do Íleo/genética , Neoplasias do Íleo/metabolismo , Cariotipagem , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/metabolismo , Masculino , Organelas/ultraestrutura , Proteínas S100/metabolismo , Sarcoma de Células Claras/genética , Sarcoma de Células Claras/metabolismoRESUMO
Immunohistochemical and ultrastructural studies of an ossifying fibromyxoid tumor of soft parts have been performed. Immunoreactivity of neoplastic cells for S-100 protein and glial fibrillary acidic protein, lack of immunoreactivity for type II collagen, and presence of basal lamina indicate that the tumor is of Schwann cell and not cartilaginous origin.
Assuntos
Fibroma/ultraestrutura , Neoplasias de Tecidos Moles/ultraestrutura , Idoso , Feminino , Humanos , Imuno-Histoquímica , Ossificação Heterotópica/patologia , Células de Schwann/patologiaRESUMO
We report a case of inflammatory myofibroblastic tumor (inflammatory pseudotumor) arising in the soft tissue of the right forearm and progressing into frank spindle cell sarcoma after five recurrences and a total span of 12 years. Myofibroblastic nature of the neoplastic spindle cells was shown by electron microscopy and immunohistochemistry. The patient developed multiple pulmonary metastases and died. Although five cases of metastasizing inflammatory myofibroblastic tumors were reported, association of sarcomatous transformation of this entity with metastatic capability was not previously described.
Assuntos
Granuloma de Células Plasmáticas/patologia , Sarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Progressão da Doença , Evolução Fatal , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/secundário , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Recidiva , Sarcoma/secundário , Sarcoma/ultraestrutura , Neoplasias de Tecidos Moles/secundário , Neoplasias de Tecidos Moles/ultraestruturaRESUMO
Recent years have witnessed considerable advances in cytogenetics and molecular biology of small round-cell tumors. These advances are summarized and discussed in this article.
Assuntos
Neoplasias/genética , Criança , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Humanos , Cariotipagem , Meduloblastoma/genética , Neuroblastoma/genética , Tumores Neuroectodérmicos Primitivos Periféricos/genética , Osteossarcoma/genética , Rabdomiossarcoma/genética , Sarcoma de Ewing/genéticaRESUMO
Pathologists should be aware of the existence of diagnostically useful chromosomal rearrangements in several soft tissue and bone tumors. They include rearrangement of 8q12 in lipoblastomas, ring chromosomes in atypical lipomas, ring and giant marker chromosomes in well differentiated liposarcomas, t(12;16)(q13;p11) in myxoid liposarcomas, rearrangement of 7p21-22 in low-grade endometrial stromal sarcomas, t(2;13)(q37;q14) in alveolar rhabdomyosarcomas, t(X;18)(p11.2;q11.2) in synovial sarcomas, t(12;22) (q13;q13) in clear cell sarcomas, t(11;22)(q24;q12) in Ewing's sarcomas and peripheral neuroepitheliomas, and t(9;22)(q21-31;q11-12) in extraskeletal myxoid chondrosarcomas.
Assuntos
Neoplasias Ósseas/genética , Neoplasias Ósseas/patologia , Aberrações Cromossômicas , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , HumanosRESUMO
A pigmented choroid plexus carcinoma was studied. The pigment was Fontana-positive, and the neoplastic cells focally expressed melanosomal marker HMB45 and contained probable aberrant melanosomes. The tumor was composed of two pseudodiploid clones, having the karyotypes 46,XY,inv(4)(q12q35),t(6;15)(q21;q22),inv(7)(p11.2q22),t(19; 22) (q13.4;q11.2)[15]/46,XY,t(4;14)(q31.1; p11.2),t(12;13)(p11.1;q34)[6]. The available data seem to indicate that rearrangements of 7p11-12, 9q11-12, 15q22, and 19q13.4 may play a role in the development of choroid plexus carcinomas.
Assuntos
Carcinoma/genética , Neoplasias do Plexo Corióideo/genética , Carcinoma/ultraestrutura , Criança , Neoplasias do Plexo Corióideo/ultraestrutura , Humanos , Cariotipagem , Masculino , Microscopia EletrônicaRESUMO
This article describes a case of nodular fasciitis with the karyotype 47,XY,+4/46,XY,add(15)(p11.2), t(16;16)(p13.3;p11.2). The presence of clonal chromosomal abnormalities in this case, as well as in three previously reported cases, indicates that nodular fasciitis is a benign neoplasm and not a reactive lesion.
Assuntos
Cromossomos Humanos Par 15/ultraestrutura , Cromossomos Humanos Par 16/ultraestrutura , Fasciite/patologia , Fibroblastos/ultraestrutura , Neoplasias de Tecidos Moles/patologia , Transformação Celular Neoplásica , Bandeamento Cromossômico , Cromossomos Humanos Par 3/ultraestrutura , Células Clonais/ultraestrutura , Fasciite/classificação , Fasciite/genética , Traumatismos da Mão/patologia , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecidos Moles/classificação , Neoplasias de Tecidos Moles/genética , CicatrizaçãoRESUMO
A case of sclerosing epithelioid fibrosarcoma was studied. The tumor cells expressed vimentin, focally epithelial membrane antigen and CD34, contained cisternae of rough endoplasmic reticulum, large Golgi apparatus, many pinocytotic vesicles, and were devoid of basal lamina. Their composite karyotype was 45,Y,t(X;6)(q13;q15), t(6;13)(p11.2;q13),-22¿2/46,Y,t(X;6)(q13;q15),add(13)(p12), add(22)(q13)¿3/44 approximately 46,der(X)t(X;6)(q13;q21),-Y, t(13;14)(q10;q10),-22,add(22)(q13)¿7/46,XY¿8.
Assuntos
Fibrossarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Antígenos CD34/análise , Biomarcadores Tumorais/análise , Cromossomos Humanos Par 12/genética , Células Clonais , Fibrossarcoma/química , Fibrossarcoma/classificação , Fibrossarcoma/imunologia , Amplificação de Genes , Humanos , Cariotipagem , Antígeno Ki-67/análise , Perna (Membro) , Masculino , Pessoa de Meia-Idade , Proteínas de Neoplasias/análise , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/imunologia , Transativadores/genéticaRESUMO
We describe a case of low-grade myxofibrosarcoma with the karyotype 46,XX,t(2;15)(p23;q21.2), del(7)(q?11.2q?22). Only six of these tumors have been previously studied and all were cytogenetically different.
Assuntos
Cromossomos Humanos Par 15 , Cromossomos Humanos Par 2 , Cromossomos Humanos Par 7 , Fibrossarcoma/genética , Deleção de Genes , Translocação Genética , Idoso , Neoplasias Ósseas/secundário , Neoplasias Ósseas/cirurgia , Mapeamento Cromossômico , Feminino , Fibrossarcoma/patologia , Fibrossarcoma/secundário , Fibrossarcoma/cirurgia , Humanos , Cariotipagem , Neoplasias Musculares/secundário , Neoplasias Musculares/cirurgia , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgiaRESUMO
We describe a case of botryoid rhabdomyosarcoma with the karyotype 53,XX,+2,+5,+8,+12,+13, i(17)(q10),+19,+20. Only two cytogenetically analyzed cases of this tumor were previously reported and structural chromosomal abnormalities in each tumor were different.
Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 17/genética , Isocromossomos/genética , Rabdomiossarcoma/genética , Neoplasias Vaginais/genética , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Aberrações Cromossômicas/patologia , Transtornos Cromossômicos , Análise Citogenética , Feminino , Humanos , Prognóstico , Rabdomiossarcoma/tratamento farmacológico , Rabdomiossarcoma/patologia , Neoplasias Vaginais/tratamento farmacológico , Neoplasias Vaginais/patologiaRESUMO
A case of mesenchymal chondrosarcoma was studied. The tumor was near-tetraploid and the clonal structural chromosomal abnormalities included add(7)(p13), add(22)(q13), markers, and double minutes. The ultrastructural and immunohistochemical findings were consistent with the diagnosis. Strong immunoreactivity for desmin was an unusual, not previously reported, feature of the neoplasm.
Assuntos
Neoplasias Ósseas/genética , Condrossarcoma Mesenquimal/genética , Neoplasias Ósseas/patologia , Neoplasias Ósseas/ultraestrutura , Condrossarcoma Mesenquimal/patologia , Condrossarcoma Mesenquimal/ultraestrutura , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 7 , Humanos , Imuno-Histoquímica , Lactente , Cariotipagem , Masculino , PloidiasRESUMO
A solitary fibrous tumor of the pleura was studied. Its karyotype was 46,XY,t(6;17) (p11.2;q23),ins(9;12)(q22;q15q24.1),inv(16)(p13.1q24). The rearrangement of 12q13-15 was also described in a subset of hemangiopericytomas of soft tissue and meninges. Because both types of tumors are morphologically and immunophenotypically quite similar, and because some of them share rearrangement of 12q13-15, the possibility of their histogenetical relatedness should be considered.
Assuntos
Aberrações Cromossômicas , Fibroma/genética , Neoplasias Pleurais/genética , Idoso , Antígenos CD34/metabolismo , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 17 , Cromossomos Humanos Par 6 , Colágeno/metabolismo , Fibroma/patologia , Fibroma/cirurgia , Rearranjo Gênico , Humanos , Masculino , Neoplasias Pleurais/patologia , Neoplasias Pleurais/cirurgia , Translocação Genética , Vimentina/metabolismoRESUMO
A case of malignant rhabdoid tumor of the liver associated with hypercalcemia of malignancy was studied. The karyotype of the liver primary was 46,XY,t(8;13)(q24.2;q33)[7]/46,XY[13], and of the brain metastasis 46,XY,t(8;13)(q24;q33)[5]/46,XY,t(7;13)(p14;q22) [3]/46,XY,t(1;2;3)(q25;q21;p21) [2]/46,XY[13], respectively. Band 8q24 was previously reported to be rearranged in two malignant rhabdoid tumors, one renal and one hepatic.
Assuntos
Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 8/genética , Neoplasias Hepáticas/genética , Tumor Rabdoide/genética , Translocação Genética/genética , Humanos , Hipercalcemia/complicações , Lactente , Cariotipagem , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/terapia , Masculino , Tumor Rabdoide/complicações , Tumor Rabdoide/patologia , Tumor Rabdoide/terapiaRESUMO
We report a case of cytokeratin-positive, CD45-negative primary polymorphic centroblastic lymphoma of the adrenal gland. Additional immunostaining, which demonstrated positivity for CD20 and kappa light chain, as well as detection of the monoclonal rearrangement of the immunoglobulin heavy chain gene, helped to establish the diagnosis of lymphoma and to rule out an initially favored diagnosis of poorly differentiated carcinoma.
Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Queratinas/análise , Antígenos Comuns de Leucócito/análise , Linfoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/patologia , Idoso , Antígenos CD20/análise , Nucléolo Celular/patologia , Núcleo Celular/patologia , Cromatina/patologia , Citoplasma/patologia , Rearranjo Gênico , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Cadeias kappa de Imunoglobulina/análise , Imuno-Histoquímica , Linfoma/patologia , Masculino , Tomografia Computadorizada por Raios XRESUMO
A case of peritoneal papillary serous carcinoma which developed after total abdominal hysterectomy and bilateral salpingo-oophorectomy for a benign condition is presented. The patient was treated with platinum-based chemotherapy to which she initially responded, but then the tumor progressed. High dose paclitaxel (250 mg/m2) was given. The patient tolerated this treatment well, achieving a rapid partial response with good palliation of symptoms. Paclitaxel should be considered for patients with a platinum resistant peritoneal papillary serous carcinoma.
Assuntos
Cistadenocarcinoma Papilar/tratamento farmacológico , Paclitaxel/uso terapêutico , Neoplasias Peritoneais/tratamento farmacológico , Carboplatina/uso terapêutico , Resistência a Medicamentos , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
The authors describe two cases of the Tolosa-Hunt syndrome and come to the conclusion that the pathological process in the disease (largely in the meninges) may also involve other sites located distantly from the cavernous sinus. The genesis of this syndrome appears to be largely infectious-allergic in nature.