RESUMO
BACKGROUND: Thyroid Metastases (TM) represent a rare entity with an estimated variability ranging between 0 and 24%. Fine needle aspiration cytology (FNAC) might be useful in discriminating between primary and TM nodules especially when ancillary techniques (i.e., immunocytochemistry-ICC) are carried out. METHODS: We herein appraised a series of 20 TM on FNAC analyzed between 2000 and 2013. We included eight male and 12 female patients. The cytological cases were processed with both liquid based (LBC) and conventional cytology. RESULTS: We reported 2.2% TM out of 910 malignancies. Our TM cases resulted as: six lung (LG), five gastro-intestinal (GI), five breast (B), three larynx (LX), and one clear cell renal carcinoma (CCRC) metastases. All the patients had a previous known cancer history. Although the cytological features were likely to suspect a TM, the application of ICC panels was contributive in 100% cases. None of TMs resulted as a unique localization whereby two cases underwent total thyroidectomy (including one B and one CCRC) and 18 TM were treated with radio-chemotherapy approaches. CONCLUSIONS: FNAC empowered the diagnostic workup of patients with TM avoiding useless surgical approach. The low sensitivity of cytology might be reinforced by the application of ancillary techniques. In contrast with the reported predominant rate of kidney metastatic carcinomas, our findings underlined that intestinal cancer as well as lung and breast are the most common TM. TM are frequently multifocal and in a contest of a systemic disease so that a tailored therapy seems to be the best treatment.
Assuntos
Neoplasias da Mama/diagnóstico , Carcinoma de Células Renais/diagnóstico , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Laríngeas/diagnóstico , Neoplasias Pulmonares/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha Fina , Neoplasias da Mama/secundário , Neoplasias da Mama/cirurgia , Carcinoma de Células Renais/secundário , Carcinoma de Células Renais/cirurgia , Feminino , Neoplasias Gastrointestinais/secundário , Neoplasias Gastrointestinais/cirurgia , Humanos , Imuno-Histoquímica , Neoplasias Laríngeas/secundário , Neoplasias Laríngeas/cirurgia , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade , Glândula Tireoide/patologia , Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/cirurgia , TireoidectomiaRESUMO
The pathogenesis of AIDS-related non-Hodgkin lymphomas (AIDS-NHLs) is associated with chromosomal translocations that deregulate the expression of various oncogenes. Recently, a novel mechanism of genetic lesion, termed aberrant hypermutation, has been identified in diffuse large B-cell lymphoma (DLBCL) of immunocompetent hosts. In these tumors, the somatic hypermutation (SHM) process that normally targets immunoglobulin V (IgV) genes in B cells appears to misfire and causes mutations in the 5' sequences of multiple proto-oncogenes, including PIM-1, PAX-5, RhoH/TTF, and c-MYC. To investigate whether aberrant hypermutation occurs also in AIDS-NHL, we studied the mutation profile of these 4 genes in various histologic subtypes. Mutations in 1 gene or more were detected in 19 of 39 (48.7%) AIDS-NHL cases (10 of 18 AIDS-diffuse large B-cell lymphoma; 4 of 11 AIDS-Burkitt lymphoma; 4 of 6 AIDS-primary effusion lymphoma; 1 of 4 AIDS-primary central nervous system lymphoma), with 9 of 39 (23.1%) cases carrying mutations in 2 or more genes. Overall, PIM-1 was mutated in 5 of 39 (12.8%), PAX-5 in 8 of 39 (20.5%), RhoH/TTF in 9 of 39 (23.1%), and c-MYC in 7 of 27 (25.9%) AIDS-NHL cases. Mutations were represented mainly by single base pair substitutions (n = 63) with rare deletions/insertions (n = 5) and displayed features typical of the IgV-associated SHM process. In addition, a number of mutations in PIM-1 and c-MYC were found to affect coding exons, leading to amino acid substitutions with likely functional consequences. Analysis of intraclonal heterogeneity documented that the aberrant hypermutation activity may be ongoing in at least some cases. These data indicate that aberrant hypermutation is associated with various subtypes of AIDS-NHL and may represent a major contributor to their pathogenesis.
Assuntos
Linfoma Relacionado a AIDS/genética , Linfoma Relacionado a AIDS/imunologia , Linfoma não Hodgkin/genética , Linfoma não Hodgkin/imunologia , Hipermutação Somática de Imunoglobulina , Sequência de Aminoácidos , Linfócitos B/fisiologia , Análise Mutacional de DNA , Proteínas de Ligação a DNA/genética , Regulação Neoplásica da Expressão Gênica/imunologia , Humanos , Região Variável de Imunoglobulina/genética , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Fator de Transcrição PAX5 , Proteínas Serina-Treonina Quinases/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas c-bcl-6 , Proteínas Proto-Oncogênicas c-myc/genética , Proteínas Proto-Oncogênicas c-pim-1 , Fatores de Transcrição/genética , Proteínas rho de Ligação ao GTP/genéticaRESUMO
Although the craniocervical junction is involved in a variety of conditions including trauma, neoplastic lesions, and inflammatory processes, isolated inflammatory conditions involving the occipital condyle exclusively are not known. The authors report this unusual condition in two cases. Unless the patient is of poor medical risk, excision of the lesion is the treatment of choice to decompress the neural structures.