Asunto(s)
Neoplasias Encefálicas/patología , Neurilemoma/patología , Lóbulo Parietal/patología , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/cirugía , Niño , Femenino , Humanos , Neurilemoma/radioterapia , Neurilemoma/cirugía , Lóbulo Parietal/efectos de la radiación , Lóbulo Parietal/cirugíaRESUMEN
This is a case report of a previously undescribed 20q chromosomal deletion (del(20q)) in marginal zone lymphoma (MZL). A 54-year-old Caucasian male presented with an enlarging neck mass and multiple violaceous skin nodules over his chest. Biopsy of the neck mass and cervical lymph nodes revealed MZL. Cytogenetic evaluation of both lymph node and bone marrow tissue revealed del(20q). This was an unexpected finding, as del(20q) is associated with myelodysplastic syndromes and myeloproliferative neoplasms and rarely seen in diffuse large B-cell lymphoma, follicular lymphoma, and T-cell lymphoma, but has not previously been described in MZL. We describe the case presentation and histologic findings and discuss the significance of this novel finding.
RESUMEN
Low-grade fibromyxoid sarcoma (previously known as Evans tumor) is a rare soft tissue neoplasm characterized by a deceptively bland appearance despite the potential for late metastasis or recurrence. We describe a 13-year-old patient with a popliteal fossa mass initially thought to be benign that, because of array-comparative genomic hybridization findings and subsequent immunohistochemistry, was diagnosed as low-grade fibromyxoid sarcoma. The array-comparative genomic hybridization demonstrated a loss of 11p11.2p15.5 and a gain of 16p11.2p13.3 with breakpoints involving the CREB3L1 (cAMP responsive element-binding protein 3-like 1) and FUS (fused in sarcoma) genes, respectively. Subsequent fluorescence in situ hybridization analysis of a dual-labeled break-apart FUS probe on interphase cells was positive. Our case highlights the importance of using genetic information obtained via array-comparative genomic hybridization to classify accurately pediatric soft tissue tumors.
Asunto(s)
Hibridación Genómica Comparativa , Fibrosarcoma/genética , Fibrosarcoma/patología , Análisis de Secuencia por Matrices de Oligonucleótidos , Adolescente , Hibridación Genómica Comparativa/métodos , Proteína de Unión a Elemento de Respuesta al AMP Cíclico/genética , Fibrosarcoma/diagnóstico , Humanos , Masculino , Proteínas del Tejido Nervioso/genética , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Proteínas Serina-Treonina Quinasas/genéticaRESUMEN
Skin metastasis associated with lung cancer is an uncommon manifestation and usually portends an aggressive clinical course. It can be either synchronous with the underlying malignancy or be the sign of recurrence. Solitary metastases can be treated with surgical resection or radiation therapy, but multiple lesions are usually treated with palliative chemotherapy. With standard platinum-based doublet regimens, treatment results are usually poor. With the advent of newer agents like pemetrexed, bevacizumab and erlotinib, perhaps results may improve with ongoing clinical trials.