RESUMO
CONTEXT: Pancreatic involvement in systemic light chain (AL)-amyloidosis is exceedingly rare. Prior reports of endoscopic ultrasound (EUS) for the diagnosis of amyloidosis are also limited. CASE REPORT: We report the first description of EUS-guided fine needle aspiration (FNA) for the diagnosis of primary AL-amyloidosis involving the pancreas. CONCLUSION: EUS-FNA can be effectively utilized for the characterization and cytologic diagnosis of pancreatic amyloidosis and potentially other accessible extraluminal amyloid deposits.
Assuntos
Amiloide/metabolismo , Amiloidose/metabolismo , Amiloidose/patologia , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Pâncreas/patologia , Amiloide/química , Amiloidose/diagnóstico , Vermelho Congo/química , Humanos , Cadeias Leves de Imunoglobulina/metabolismo , Amiloidose de Cadeia Leve de Imunoglobulina , Masculino , Pessoa de Meia-Idade , Coloração e Rotulagem/métodosRESUMO
BACKGROUND: Translocations involving the MYC gene and increased MYC mRNA levels are associated with poor outcome in diffuse large B-cell lymphoma. However, the presence of increased MYC gene copy number and/or polysomy of chromosome 8 have not been previously described. DESIGN AND METHODS: Utilizing dual color chromogenic in situ hybridization, we investigated MYC gene copy and chromosome 8 centromere numbers in 52 cases of diffuse large B-cell lymphoma. Cases were divided into those with "increased" or "not increased" MYC gene copy number for comparison with MYC mRNA levels, Ki-67 values, and survival. RESULTS: Increased MYC gene copy number was present in 38% of cases. Overall, the average MYC mRNA level was 2398 (range, 342 - 9783) and the percentage of nuclei positive for Ki-67 was 57.5% (range, 20-87%). Within the group with increased MYC copy number, the MYC mRNA values ranged from 816 to 5912 (average, 2843) and the Ki-67 values ranged from 23% to 83% (average, 57%). Within the group with not increased MYC copy number, MYC mRNA values ranged from 342 to 9783 (average, 2118) and the Ki-67 values ranged from 20% to 87% (average, 58%). There was a statistically significant relationship between increased MYC gene copy number and increased MYC mRNA (P=0.034) and a trend toward a relationship between increased mRNA and higher Ki-67 values. CONCLUSIONS: This is the first report that low level copy number increases are common in diffuse large B-cell lymphoma and that these changes correlate with MYC mRNA in a statistically significant manner. MYC copy number changes are an additional possible molecular mechanism that may result in increased mRNA and, likely, high proliferation and poor outcome.
Assuntos
Dosagem de Genes , Genes myc/genética , Linfoma Difuso de Grandes Células B/genética , Proteínas Proto-Oncogênicas c-myc/genética , RNA Mensageiro/genética , Proliferação de Células , Cromossomos Humanos Par 8/genética , Amplificação de Genes , Humanos , Técnicas Imunoenzimáticas , Hibridização in Situ Fluorescente , Antígeno Ki-67/metabolismo , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/metabolismo , Proteínas Proto-Oncogênicas c-myc/metabolismo , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise Serial de Tecidos , Translocação GenéticaRESUMO
Salivary gland malignancies are rare tumors that comprise multiple histologic entities with diverse clinical behavior. Mucoepidermoid carcinoma is the most frequent primary salivary malignancy, followed by adenoid cystic and acinic cell carcinoma. Although most salivary malignancies are asymptomatic, presentation with a rapidly enlarging mass may be accompanied by pain, functional neurologic deficits, soft-tissue invasion, or nodal enlargement. Assessment of clinical behavior and physical exam greatly contributes to diagnostic workup. Preoperative imaging, to include ultrasound, computed tomography, or magnetic resonance imaging, may assist with surgical planning. Limitations of preoperative fine-needle aspiration cytology mean that, in some cases, definitive histologic diagnosis may not be established until therapeutic surgery is undertaken. Treatment strategies rely on oncologic resection of the primary site with negative margins as well as adjuvant radiotherapy in patients with high-risk features, such as high-grade histology, advanced T class, or perineural invasion. Regional lymphadenectomy is recommended for involved nodal basins. Patients with clinically node-negative disease at high risk for occult nodal metastases may be considered for elective lymphadenectomy or radiotherapy. Use of chemotherapy in the adjuvant setting, in combination with radiotherapy, remains controversial. The rate of objective response to palliative chemotherapy in recurrent or metastatic salivary gland malignancy remains low. In studies that include a significant proportion of adenoid cystic carcinomas, whether disease stability represents an indolent disease process or the true effect of a therapeutic drug may be difficult to discern. Recognition of genetic alterations and protein expression unique to salivary malignancies presents exciting new opportunities for molecularly targeted therapy, although the response to molecularly targeted therapy in studies has been modest thus far.