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1.
J Clin Endocrinol Metab ; 97(7): E1249-56, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22511796

RESUMO

CONTEXT: Runx2, a master gene of osteogenic differentiation, is also expressed in nonosseous cancer cells. Microcalcifications are characteristic of papillary thyroid carcinoma and represent a useful find for diagnosis. However, the molecular expression of osteogenic differentiation transcription factor Runx2 has been poorly investigated in this tumor. OBJECTIVE: The aim of this study was to investigate Runx2 mRNA expression in normal and pathological thyroid tissue, serum, and circulating non-hematopoietic cells. SETTING: The study was performed in the Endocrine Unit of Internal Medicine of "Azienda Ospedaliera Universitaria Integrata of Verona" (Verona, Italy). PATIENTS: We enrolled 12 patients with a papillary thyroid carcinoma (PTC), who had undergone total thyroidectomy performed by the same surgeon. The results, obtained by real-time RT-PCR, were compared with biological samples obtained from 13 sex- and age-matched normal donors. RESULTS: Our data demonstrated that Runx2 mRNA is overexpressed (7.81-fold expression) in pathological thyroid tissue than in normal tissue (P < 0.05). Runx2 mRNA overexpression was also observed in serum and circulating non-hematopoietic cells of PTC patients with respect to normal donors (5.91-fold expression, P < 0.001; 3.82-fold expression, P < 0.05, respectively). We also observed that patients with microcalcifications expressed significantly higher levels of Runx2 mRNA in serum with respect to patients without microcalcifications (P < 0.05). CONCLUSION: This study can open up new research perspectives in the diagnosis and follow-up of PTC, even if further and larger cohort studies will be necessary to validate the Runx2 expression as biomarkers in thyroid cancer.


Assuntos
Subunidade alfa 1 de Fator de Ligação ao Core/genética , Neoplasias da Glândula Tireoide/sangue , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/sangue , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Células Sanguíneas/metabolismo , Calcinose/complicações , Calcinose/genética , Calcinose/metabolismo , Carcinoma , Carcinoma Papilar , Estudos de Casos e Controles , Subunidade alfa 1 de Fator de Ligação ao Core/sangue , Subunidade alfa 1 de Fator de Ligação ao Core/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/fisiologia , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas B-raf/metabolismo , RNA Mensageiro/sangue , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide/complicações , Distribuição Tecidual , Adulto Jovem
2.
J Mol Diagn ; 14(1): 30-7, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22026958

RESUMO

The BIOMED-2 protocol is widely used for detecting clonality in lymphoproliferative disorders. The protocol requires multiple PCR reactions, which are analyzed by either capillary electrophoresis (GeneScan analysis) or heteroduplex PAGE analysis. We tested a microfluidic chip-based electrophoresis device (Agilent 2100 Bioanalyzer) for the analysis of B-cell clonality using PCR for the three framework subregions (FR) of the Ig heavy chain gene (IGH) and PCR for two rearrangements occurring in the Ig κ chain gene (IGK-VJ and IGK-DE). We analyzed 62 B-cell lymphomas (33 follicular and 29 nonfollicular) and 16 reactive lymph nodes. Chip-based electrophoresis was conclusive for monoclonality in 59/62 samples; for 20 samples, it was compared with GeneScan analysis. Concordant results were obtained in 45/55 IGH (FR1, FR2, and FR3) gene rearrangements, and in 34/37 IGK gene rearrangements. However, when the chip device was used to analyze selected IGK gene rearrangements (biallelic IGK rearrangements or IGK rearrangements in a polyclonal background), its performance was not completely accurate. We conclude, therefore, that this microfluidic chip-based electrophoresis device is reliable for testing cases with dominant PCR products but is less sensitive than GeneScan in detecting clonal peaks in a polyclonal background for IGH PCR, or with complex IGK rearrangement patterns.


Assuntos
Linfócitos B/metabolismo , Linfoma de Células B/diagnóstico , Linfócitos B/patologia , Eletroforese em Microchip/economia , Rearranjo Gênico , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Imunoglobulinas/genética , Linfonodos/metabolismo , Linfonodos/patologia , Linfoma de Células B/patologia , Sensibilidade e Especificidade
3.
Cell Oncol (Dordr) ; 34(2): 141-53, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21394647

RESUMO

BACKGROUND: Mantle cell lymphoma (MCL) is currently an incurable entity, and new therapeutic approaches are needed. We have applied a high-throughput phospho-proteomic technique to MCL cell lines to identify activated pathways and we have then validated our data in both cell lines and tumor tissues. METHODS: PhosphoScan analysis was performed on MCL cell lines. Results were validated by flow cytometry and western blotting. Functional validation was performed by blocking the most active pathway in MCL cell lines. RESULTS: PhosphoScan identified more than 300 tyrosine-phosporylated proteins, among which many protein kinases. The most abundant peptides belonged to proteins connected with B-cell receptor (BCR) signaling. Active BCR signaling was demonstrated by flow cytometry in MCL cells and by western blotting in MCL tumor tissues. Blocking BCR signaling by Syk inhibitor piceatannol induced dose/time-dependent apoptosis in MCL cell lines, as well as several modifications in the phosphorylation status of BCR pathway members and a collapse of cyclin D1 protein levels. CONCLUSION: Our data support a pro-survival role of BCR signaling in MCL and suggest that this pathway might be a candidate for therapy. Our findings also suggest that Syk activation patterns might be different in MCL compared to other lymphoma subtypes.


Assuntos
Linfoma de Célula do Manto/metabolismo , Fosfoproteínas/metabolismo , Proteômica/métodos , Receptores de Antígenos de Linfócitos B/metabolismo , Western Blotting , Linhagem Celular Tumoral , Sobrevivência Celular/efeitos dos fármacos , Sobrevivência Celular/fisiologia , Ativação Enzimática/efeitos dos fármacos , Citometria de Fluxo , Imunofluorescência , Humanos , Isoenzimas/antagonistas & inibidores , Isoenzimas/genética , Isoenzimas/metabolismo , Linfoma de Célula do Manto/genética , Linfoma de Célula do Manto/patologia , Modelos Biológicos , Fosfoproteínas/genética , Fosforilação , Receptores Proteína Tirosina Quinases/antagonistas & inibidores , Receptores Proteína Tirosina Quinases/genética , Receptores Proteína Tirosina Quinases/metabolismo , Receptores de Antígenos de Linfócitos B/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Transdução de Sinais/efeitos dos fármacos , Transdução de Sinais/fisiologia , Estilbenos/farmacologia , Tirosina/metabolismo
5.
Pathology ; 42(1): 1-5, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20025473

RESUMO

AIMS: High intensity focused ultrasound (HIFU) is an emerging alternative for the treatment of prostate adenocarcinoma. Alpha-methylacyl-CoA racemase (AMACR) has been shown to be a sensitive immunomarker for prostate cancer, however, there is no information available concerning its utility and that of other immunomarkers for the detection of malignancy after HIFU therapy. METHODS: AMACR expression was examined in 11 cases of prostatic carcinoma treated by HIFU, with histological evidence of residual carcinoma. In seven cases tumour was examined from thin core biopsies and in four cases from tissue fragments obtained by transurethral resection of prostate (TURP). In addition to AMACR, immunostaining was also undertaken for p63, cytokeratin 34betaE12, cytokeratin 5, cytokeratin 8-18, prostate specific alkaline phosphatase (PSAP), prostate specific antigen (PSA), chromogranin and CD56. RESULTS: In two of the cases foci of tumour were cut out in serial sections. AMACR was expressed in eight of nine evaluable cases (4/5 biopsies and 4/4 TURP specimens). Cytokeratin 8-18 and PSAP were positive in all cases, whereas PSA was positive in five of nine cases. Cytokeratin 34betaE12, cytokeratin 5, and p63 marked the basal layer in normal prostatic glands, but were negative in neoplastic glands. In four cases we found tumour cells with positive staining for CD56 and chromogranin. CONCLUSIONS: A panel with positive markers for AMACR, and negative markers for p63/cytokeratin 5/cytokeratin 34betaE12 confirms the neoplastic nature of the residual glands on biopsies or TURP fragments sampled after HIFU therapy.


Assuntos
Adenocarcinoma/enzimologia , Adenocarcinoma/terapia , Biomarcadores Tumorais/metabolismo , Neoplasias da Próstata/enzimologia , Neoplasias da Próstata/terapia , Racemases e Epimerases/metabolismo , Terapia por Ultrassom/métodos , Técnicas de Ablação/métodos , Adenocarcinoma/patologia , Terapia Combinada , Técnica Direta de Fluorescência para Anticorpo , Humanos , Técnicas Imunoenzimáticas , Queratina-5/metabolismo , Queratinas/metabolismo , Masculino , Necrose/diagnóstico por imagem , Necrose/patologia , Neoplasias da Próstata/patologia , Ressecção Transuretral da Próstata , Ultrassonografia
6.
Am J Clin Pathol ; 133(1): 116-26, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20023267

RESUMO

We investigated the usefulness of interphase fluorescence in situ hybridization (FISH) analysis to differentiate between 11 chromophobe renal carcinomas and 12 renal oncocytomas, showing different clinical outcomes, when compared with conventional metaphase cytogenetics by karyotyping. Karyotypically, 3 chromophobe renal cell carcinomas showed losses of chromosomes, 3 were polyploid, 1 was normal, and 4 failed to grow. Of 12 oncocytomas, 5 showed a normal numeric karyotype and 6 additional structural rearrangements. FISH on chromophobe renal cell carcinomas showed a high percentage of cases (10/11 [91%]) with multiple numeric losses among chromosomes 1, 2, 6, 10, and 17; this interphase pattern was observed irrespective of the 3 different metaphase karyotypes. Of 12 oncocytomas, 11 (92%) revealed a normal numeric chromosomal status showing at least 2 chromosomes without aneusomy by interphase FISH. The study demonstrates that indeed FISH performed on formalin-fixed, paraffin-embedded tissue can provide clinically useful information more reliably than karyotyping of most of these tumors.


Assuntos
Adenoma Oxífilo/diagnóstico , Carcinoma de Células Renais/diagnóstico , Aberrações Cromossômicas , Hibridização in Situ Fluorescente , Neoplasias Renais/diagnóstico , Adenoma Oxífilo/genética , Carcinoma de Células Renais/genética , DNA de Neoplasias/análise , Diagnóstico Diferencial , Humanos , Interfase/genética , Neoplasias Renais/genética , Metáfase/genética , Análise Serial de Tecidos
7.
J Cutan Pathol ; 36(6): 702-5, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19515052

RESUMO

Sister Mary Joseph's nodule (SMJN) involving the umbilicus can often be a clinical sign of metastatic cancer, but rarely cancer originating from the breast. We report a rare case of umbilical metastases from breast cancer and reviewed the literature. A 54-year-old woman was referred to a pre-surgery clinic for an examination of an umbilical nodule. The patient had a history of ductal breast carcinoma. Cytological smear from fine needle aspiration showed epithelial neoplastic cells resembling those of breast carcinoma. Neoplastic cells from tissue were positive for cytokeratin 8-18, estrogen and progesterone receptor and negative for E-cadherin and had a low proliferative index. Her-2/neu immunodetection showed a 2+ equivocal positive rate, but Her-2/neu gene amplification was found on the cytological smear by fluorescence in situ hybridization analysis. Similar results were obtained within a tissue section. Concordant findings have been obtained when comparing the recent American Society of Clinical Oncology/College of American Pathologists scoring system. Fine needle aspiration from the SMJN is a useful tool for the diagnosis of metastatic breast cancer. Furthermore, the predictive biomarkers for tumors of the breast, hormonal receptors and Her-2/neu not only assist with the identification of the source of the metastatic disease but also provide clinical information for patient management.


Assuntos
Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/secundário , Receptor ErbB-2/metabolismo , Umbigo/patologia , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Biópsia por Agulha Fina , Neoplasias da Mama/genética , Carcinoma Ductal de Mama/genética , Feminino , Amplificação de Genes , Expressão Gênica , Genes erbB-2 , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Pessoa de Meia-Idade , Receptor ErbB-2/genética
8.
Infect Agent Cancer ; 4: 6, 2009 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-19371403

RESUMO

BACKGROUND: A possible association between human cytomegalovirus (HCMV) infection and colorectal cancer progression has been inferred by the identification in tumour tissues of HCMV antigens and specific viral DNA or RNA sequences. To further investigate the relationship between HCMV and colorectal cancers we developed qualitative and quantitative PCR assay to detect HCMV DNA in 56 formalin-fixed paraffin-embedded (FFPE) tissue samples from patients belonging to 4 different histological phenotypes: adenoma; poorly, moderately and well differentiated adenocarcinomas. RESULTS: Of the 56 FFPE tested tissue samples, 6 (11%) were positive for HCMV nested PCR amplification, and more precisely 1 (5%) of 20 cases of adenoma and 5 (21%) of 24 cases of moderately differentiated adenocarcinoma. No PCR positivity was obtained in samples from well and poorly differentiated adenocarcinomas. CONCLUSION: Our observations suggest that there is no evidence of a direct association between HCMV and colorectal cancer. Moreover, the results obtained are not supportive of a causal role of HCMV in the processes of carcinogenesis and/or progression of colorectal cancer. However, the fact that the virus may present a "hit and run" like-mechanism and HCMV can thus only be detectable at a particular stage of a processing adenocarcinoma, suggests that a significant number of colorectal cancers might have been the subject of HCMV infection that could contribute to trigger the oncogenic differentiation. Our analysis does not exclude the possibility of HCMV infection subsequent viral clearance.

9.
Int J Surg Pathol ; 17(3): 264-7, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19164409

RESUMO

The Antopol-Goldman lesion is a subepithelial pelvic hematoma simulating a renal neoplasm. We report the clinico-pathological features of a single case and a review of the literature. A 76-year-old man presented with flank pain and hematuria. Computed tomography showed a hypodense lesion of 6 cm at the left kidney with filling defect at pyelogram. The patient underwent nephroureterectomy for suspected neoplasm. Macroscopically, a mass of 6 cm was present impinging on the pelvi-caliceal system. Microscopically, the lesion was composed by hemorragic material with feature of an hematoma. A diffuse eosinophilic amorphous material suspicious for amyloid was observed among intra- and extraparenchymal vessels. The Congo-Red staining verified the presence of amyloid. The diagnosis was subepithelial pelvic hematoma with severe amyloidosis. Antopol-Goldman lesion should be kept in mind as a possible differential diagnosis of upper urinary tract lesion to avoid unnecessary nephrectomies. The anamnestic knowledge of amiloydosis may increase this diagnostic hypothesis.


Assuntos
Hematoma/patologia , Neoplasias Renais/patologia , Pelve Renal/patologia , Idoso , Amiloidose/complicações , Amiloidose/patologia , Diagnóstico Diferencial , Hematoma/complicações , Hematoma/cirurgia , Humanos , Pelve Renal/cirurgia , Masculino , Nefrectomia , Tomografia Computadorizada por Raios X
10.
Ann Diagn Pathol ; 12(4): 301-303, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18621001

RESUMO

Sarcoma of the kidney is uncommon and represents between 1% and 3% of all malignant renal tumors. Primary rhabdomyosarcoma of the kidney in adult age is unusual, and only sporadic cases have been reported. This is a very aggressive tumor with dismal prognosis. We report a new case of pleomorphic rhabdomyosarcoma of the kidney in an adult patient.


Assuntos
Neoplasias Renais/patologia , Rabdomiossarcoma/patologia , Adulto , Feminino , Humanos , Imuno-Histoquímica
13.
Int J Surg Pathol ; 16(1): 101-3, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18203797

RESUMO

Dirofilariasis is a zoonotic infection, which is occasionally seen in humans and rarely found as a subcutaneous orbital swelling. The authors report a case of a 62-year-old woman presented with a 3-month history of a right periorbital subcutaneous nodule. Treatment with antibiotics and corticosteroids was not satisfactory. Magnetic resonance imaging analysis showed a nodule with a central colliquative area. The lesion displaced the eyeball superiorly but did not affect the intraorbital muscles. The patient was subjected to excisional biopsy and the nodule measured 15 mm. Histological findings showed microabscess reaction with heterogeneous lymphoid infiltration. Additional consecutive sections finally showed Dirofilaria repens, curled up in spirals with external cuticular ridges in an environment characterized by epithelioid cells. The lesion did not recur for 5 months. Periorbital swelling can be rarely caused by Dirofilaria repens; therefore, this diagnosis should be considered in all cases of subcutaneous inflammatory or tumor-like lesion of unknown etiology.


Assuntos
Dirofilariose/patologia , Infecções Oculares Parasitárias/patologia , Doenças Orbitárias/patologia , Doenças Orbitárias/parasitologia , Animais , Cistos/patologia , Diagnóstico Diferencial , Dirofilaria , Dirofilariose/cirurgia , Infecções Oculares Parasitárias/cirurgia , Feminino , Humanos , Inflamação/patologia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Doenças Orbitárias/cirurgia , Neoplasias Orbitárias/patologia , Tela Subcutânea/parasitologia , Tela Subcutânea/patologia , Tela Subcutânea/cirurgia
14.
Mod Pathol ; 21(1): 1-6, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17906617

RESUMO

Loss of chromosome 9p has been implicated in the progression of renal cell carcinoma. We evaluated the clinical utility of fluorescence in situ hybridization analysis of loss of chromosome 9p in 73 patients with clear cell renal cell carcinomas with varied stage, size, grade, necrosis (SSIGN) scores. Loss of chromosome 9p was observed in 13 tumors (18%). The 5-year cancer-specific survival of patients without loss of chromosome 9p was 88% and was 43% in those with loss of chromosome 9p (P<0.001). Local extension of the primary tumor according to the 2002 TNM staging system, lymph node involvement, the presence of distant metastases, and the SSIGN score were the other variables that predicted cancer-specific survival in univariate analysis. Loss of chromosome 9p was an independent prognostic factor in multivariate analysis. Our data indicate that the detection of chromosome 9p loss by fluorescence in situ hybridization analysis of clear cell renal cell carcinoma adds prognostic information beyond the pathological factors included in the current predictive models for renal cell carcinoma, such as SSIGN score.


Assuntos
Carcinoma de Células Renais/genética , Deleção Cromossômica , Cromossomos Humanos Par 9 , Regulação Neoplásica da Expressão Gênica , Hibridização in Situ Fluorescente , Neoplasias Renais/genética , Idoso , Carcinoma de Células Renais/mortalidade , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/terapia , Feminino , Humanos , Estimativa de Kaplan-Meier , Neoplasias Renais/mortalidade , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Estadiamento de Neoplasias , Prognóstico , Fatores de Tempo , Resultado do Tratamento
15.
Expert Opin Med Diagn ; 2(6): 665-76, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23495777

RESUMO

BACKGROUND: The classification of renal cell neoplasms includes different subtypes of tumors characterized by different outcome. Some overlapping morphological features and the increasing recognition of new entities are making the traditional histologic distinction of renal cell neoplasms difficult and more tools improving the specificity of the correct identification are needed. Among molecular analyses, immunohistochemistry and fluorescence in situ hybridization have become the most helpful procedures, solving many issues in the differential diagnosis of the renal cell neoplasms. OBJECTIVE: The aim of this review is to merge the large amount of recent knowledge regarding molecular markers of renal cell neoplasms into a helpful diagnostic algorithm. CONCLUSION: It is proposed that immunoreactions for CD10, Alpha-methylacyl-CoA racemase, cytokeratin 7, parvalbumin and S100A1, and the cytogenetical analysis of chromosomes 3p, 1, 2, 6, 7, 10, 17 and Y can now offer the most specific tools for the classification of renal cell tumors.

17.
Mod Pathol ; 20(8): 843-55, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17491597

RESUMO

The current TNM classification considers a tumor nodule in the pericolic/perirectal adipose tissue as venous invasion if the nodule has an irregular contour and as regional lymph node metastasis if the nodule has the form and smooth contour of a lymph node. However, detailed studies on the clinico-pathological implications of pericolonic tumor deposits and of extranodal extension are still lacking. We investigated the impact of these metastatic deposits in the pericolic fat in a series of 228 patients with advanced colon cancer. The pericolonic tumor deposits were characterized by their appearance, size, distance from the primary tumor and by their relation with the lymphatic tissue not organized in lymph nodes. These features were then compared with the clinico-pathological characteristics of the tumors and with the patients' survival. All these lesions were associated with reduced disease-free and overall survivals in a univariate analysis, but only pericolonic tumor deposits retained an independent prognostic role in the multivariate analysis. Our findings suggest that pericolonic tumor deposits are a destructive type of venous invasion different from other types of vessel involvement, and that these lesions may rather be included in the M category for staging purposes.


Assuntos
Adenocarcinoma/patologia , Colo/patologia , Neoplasias do Colo/patologia , Adenocarcinoma/classificação , Adenocarcinoma/mortalidade , Adenocarcinoma/terapia , Neoplasias do Colo/classificação , Neoplasias do Colo/mortalidade , Neoplasias do Colo/terapia , Intervalo Livre de Doença , Humanos , Gordura Intra-Abdominal/patologia , Estimativa de Kaplan-Meier , Metástase Linfática , Invasividade Neoplásica , Estadiamento de Neoplasias , Prognóstico , Fatores de Tempo , Veias/patologia
18.
Mod Pathol ; 20(7): 722-8, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17483815

RESUMO

S100A1 is a calcium-binding protein, which has been recently found in renal cell neoplasms. We evaluated the diagnostic utility of immunohistochemical detection of S100A1 in 164 renal cell neoplasms. Forty-one clear cell, 32 papillary, and 51 chromophobe renal cell carcinomas, and 40 oncocytomas, 164 samples of normal renal parenchyma adjacent to the tumors and 13 fetal kidneys were analyzed. The levels of S100A1 mRNA detected by quantitative RT-PCR analysis of frozen tissues from seven clear cell, five papillary, and six chromophobe renal cell carcinomas, four oncocytomas, and nine samples of normal renal tissues adjacent to neoplasms were compared with the immunohistochemical detection of protein expression. Clear cell and papillary renal cell carcinomas showed positive reactions for S100A1 in 30 out of 41 tumors (73%) and in 30 out of 32 (94%) tumors, respectively. Thirty-seven renal oncocytomas out of 40 (93%) were positive for S100A1, whereas 48 of 51 (94%) chromophobe renal cell carcinomas were negative. S100A1 protein was detected in all samples of unaffected and fetal kidneys. S100A1 mRNA was detected by RT-PCR in all normal kidneys and renal cell neoplasms, although at very different levels. Statistical analyses comparing the different expression of S100A1 in clear cell and chromophobe renal cell carcinomas observed by immunohistochemical and RT-PCR methods showed significant values (P<0.001), such as when comparing by both techniques the different levels of S100A1 expression in chromophobe renal cell carcinomas and oncocytomas (P<0.001). Our study shows that S100A1 protein is expressed in oncocytomas, clear cell and papillary renal cell carcinomas but not in chromophobe renal cell carcinomas. Its immunodetection is potentially useful for the differential diagnosis between chromophobe renal cell carcinoma and oncocytoma. Further, S100A1 protein expression is constantly detected in the normal parenchyma of the adult and fetal kidney.


Assuntos
Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Proteínas S100/genética , Adenoma Oxífilo/diagnóstico , Adenoma Oxífilo/genética , Adenoma Oxífilo/metabolismo , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/metabolismo , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Rim/química , Rim/metabolismo , Rim/patologia , Neoplasias Renais/genética , Neoplasias Renais/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Proteínas S100/metabolismo , Sensibilidade e Especificidade
19.
J Mol Diagn ; 9(2): 151-7, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17384206

RESUMO

Gastrointestinal stromal tumors (GISTs) frequently harbor mutations in the KIT and PDGFRA genes, the presence and type of which correlate with the response to the kinase inhibitor imatinib mesylate. Because most GIST mutations are deletions/insertions, we used a microfluidic apparatus to detect these size variations in polymerase chain reaction-amplified DNA. This approach, termed microfluidic deletion/insertion analysis (MIDIA), identified mutations in 30 of 50 DNA samples from paraffin-embedded CD117-positive GISTs (60%), comprising 25 deletions and five insertions. Sequencing of 14 MIDIA-positive samples confirmed the deletions/insertions, including two 3-bp alterations. Sequencing of all 20 MIDIA-negative samples also showed highly consistent results with MIDIA because 10 cases were wild type and eight displayed a single base substitution in which detection by MIDIA was not expected. Sequencing also revealed a 3-bp deletion undetected by MIDIA, thus establishing the resolution limit of MIDIA at deletions/insertions >or=3 bp. Denaturing high-pressure liquid chromatography analysis confirmed all mutations detected by MIDIA and sequencing. We pro-pose MIDIA as the first step in mutational screening of GIST because it allowed the detection of 75% of mutated cases (94% of deletions/insertions) in less than 30 minutes after polymerase chain reaction amplification and at a lower cost compared with denaturing high-pressure liquid chromatography and sequencing, which might then be used only for MIDIA-negative cases.


Assuntos
Tumores do Estroma Gastrointestinal/diagnóstico , Testes Genéticos/métodos , Microfluídica/métodos , Mutagênese Insercional/genética , Proteínas Proto-Oncogênicas c-kit/genética , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Deleção de Sequência/genética , Sequência de Bases , Cromatografia Líquida de Alta Pressão , Custos e Análise de Custo , Análise Mutacional de DNA , Primers do DNA , DNA de Neoplasias/genética , Éxons/genética , Reações Falso-Negativas , Reações Falso-Positivas , Tumores do Estroma Gastrointestinal/genética , Humanos , Microfluídica/economia , Dados de Sequência Molecular , Desnaturação de Ácido Nucleico , Proteínas Proto-Oncogênicas c-kit/análise , Sensibilidade e Especificidade , Fatores de Tempo
20.
Anal Quant Cytol Histol ; 29(1): 41-9, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17375873

RESUMO

It has been demonstrated that different renal cell neoplasms have characteristic morphologic and genetic features. Histologic subtyping of renal epithelial neoplasms has been shown to be of prognostic value; therefore they must be correctly classified. Although adequate sampling and a good understanding of the morphologic features usually minimize diagnostic errors, the use of immunohistochemical and chromosomal analysis on formalin-fixed, paraffin-embedded tissues can be necessary. These techniques can facilitate diagnosis on small biopsies, which are increasingly obtained from renal masses. An immunohistochemical panel including CD10, parvalbumin, AMACR, CK7 and S100A1 seems the most promising; fluorescence in situ hybridization analysis using centromeric probes to evaluate the gains and losses of the chromosomes can be helpful in selected cases. A wide variety of molecular markers have been examined, but further research is required to prove their value as prognostic tools.


Assuntos
Biomarcadores Tumorais/análise , Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Carcinoma de Células Renais/classificação , Carcinoma de Células Renais/patologia , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente/métodos , Neoplasias Renais/classificação , Neoplasias Renais/patologia , Prognóstico , Sensibilidade e Especificidade
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