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7.
Oncotarget ; 7(21): 30492-503, 2016 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-27127180

RESUMO

The biological and molecular events that underlie bone marrow fibrosis in patients with myelodysplastic syndromes are poorly understood, and its prognostic role in the era of the Revised International Prognostic Scoring System (IPSS-R) is not yet fully determined. We have evaluated the clinical and biological events that underlie bone marrow fibrotic changes, as well as its prognostic role, in a well-characterized prospective patient cohort (n=77) of primary MDS patients. The degree of marrow fibrosis was linked to parameters of erythropoietic failure, marrow cellularity, p53 protein accumulation, WT1 gene expression, and serum levels of CXCL9 and CXCL10, but not to other covariates including the IPSS-R score. The presence of bone marrow fibrosis grade 2 or higher was associated with the presence of mutations in cohesin complex genes (31.5% vs. 5.4%, p=0.006). By contrast, mutations in CALR, JAK2, PDGFRA, PDGFRB,and TP53 were very rare. Survival analysis showed that marrow fibrosis grade 2 or higher was a relevant significant predictor for of overall survival, and independent of age, performance status, and IPSS-R score in multivariate analysis.


Assuntos
Medula Óssea/metabolismo , Análise Mutacional de DNA/métodos , Mutação , Síndromes Mielodisplásicas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Medula Óssea/patologia , Quimiocina CXCL10/sangue , Quimiocina CXCL9/sangue , Feminino , Fibrose , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/metabolismo , Síndromes Mielodisplásicas/patologia , Prognóstico , Estudos Prospectivos , Análise de Sobrevida , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo , Proteínas WT1/genética , Proteínas WT1/metabolismo
14.
Am J Dermatopathol ; 34(8): 800-9, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22668577

RESUMO

Granular cell tumors (GCT) are nerve sheath neoplasms composed of Schwann cells with granular cytoplasm. Perineurial cells are the cellular component of the perineurium and of perineuriomas, neoplasms supposedly derived from perineurial cells. However, perineurial cells have also been found in other Schwann cell-derived tumors. These cells have not been well studied in GCTs. We studied the presence of perineurial cells in a series of 24 GCTs with EMA, claudin-1, and Glut-1, which are immunohistochemical markers for perineurial cells. Three cases lacked nerve fascicles. Three cases showed no perineurial proliferation (grade 0), 7 showed grade 1 proliferation, and 11 showed grade 2 proliferation. For comparison, we studied 17 cases of neoplasms with perineural invasion (PNI): 7 cutaneous neoplasms [squamous cell carcinomas (n = 3), cutaneous lymphoma, malignant melanoma, eccrine carcinoma, congenital neurotropic nevus (n = 1 each)] and 10 noncutaneous tumors [prostatic (n = 2), gastric (n = 2), and colonic (n = 2) adenocarcinomas; invasive ductal carcinoma of breast (n = 2); urothelial carcinoma of bladder (n = 1); and oral squamous cell carcinoma (n = 1)] with the same antibodies for perineurial cells. We found perineurial cell proliferation in 10 cases, 6 grade 1, and 4 grade 2. These perineurial cells were limited to the areas around the nerve fascicles. Most of the tumor was devoid of perineurial cells. Thus, it was interpreted more as a hyperplastic or reactive phenomenon than a neoplastic component. Claudin-1 was the most sensitive of the 3 markers that we used. Such proliferation was less intense in non-GCTs. In conclusion, proliferation of perineurial cells in GCTs and neoplasms with PNI is a common finding that had not been previously studied. It seems to be a non-neoplastic phenomenon.


Assuntos
Tumor de Células Granulares/patologia , Nervos Periféricos/patologia , Células Satélites Perineuronais/patologia , Adolescente , Adulto , Biomarcadores Tumorais/análise , Criança , Feminino , Tumor de Células Granulares/metabolismo , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias de Bainha Neural/metabolismo , Neoplasias de Bainha Neural/patologia , Nervos Periféricos/metabolismo , Células Satélites Perineuronais/metabolismo , Células de Schwann/patologia , Adulto Jovem
18.
Int J Surg Pathol ; 19(4): 506-9, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19687027

RESUMO

The authors describe a case of renal cell carcinoma with t(6; 11) (p21; q12) in a 22-year-old man. The tumor showed typical histological features of this neoplasm with 2 types of cells and hyaline nodules surrounded by small cells. Characteristically, the tumor showed cystic lumina with hyaline-papillary structures inside and in some areas large and irregular intratumoral vessels. On immunohistochemical study, the tumoral cells were positive for melanocytic markers and transcription factor EB, as also for AE1-AE3 and Cam5.2 anticytokeratin antibodies. The expression of epithelial markers in this neoplasm is uncommon, and we think it is an important finding because otherwise, if melanocytic markers such as HMB45 or Melan A are not used, some renal cell carcinomas with the t(6; 11) (p21; q12) may be mistaken for other more common renal cell carcinomas.


Assuntos
Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Carcinoma de Células Renais , Cromossomos Humanos Par 11 , Cromossomos Humanos Par 6 , Neoplasias Renais , Translocação Genética , Antígenos de Neoplasias/metabolismo , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/metabolismo , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/patologia , Humanos , Neoplasias Renais/genética , Neoplasias Renais/metabolismo , Neoplasias Renais/patologia , Masculino , Antígenos Específicos de Melanoma/metabolismo , Adulto Jovem
19.
Case Rep Dermatol ; 2(2): 69-75, 2010 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-21103191

RESUMO

We describe a case of papillated Bowen disease (PBD), associated with a clear cell atypical fibroxanthoma (CCAFXA). The epidermal lesion showed a bowenoid papillomatous growth pattern with histologic features suggestive of infection by human papilloma virus (HPV). In the dermis a neoplasm made up by spindled or polygonal cells with wide clear cytoplasm and moderate nuclear pleomorphism was found. Immunohistochemical characteristics of these two lesions were clearly different. The atypical cells of the intraepidermal proliferation were positive for AE1-AE3 anticytokeratin antibody, EMA, p16, p53 and p63. The dermal tumor was positive for vimentin, CD10, CD68, CD99, alpha-1-antitrypsin and c-kit. Histological features and immunohistochemical profile of the dermal tumor corresponded to a CCAFXA, a very uncommon neoplasm of which only 10 cases have been reported. In situ hybridization for numerous types of HPVs was negative in both lesions.

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