Germline large genomic alterations on 7q in patients with multiple primary cancers.

Patients with multiple primary cancers (MPCs) are suspected to have a hereditary cancer syndrome. However, only a small proportion may be explained by mutations in high-penetrance genes. We investigate two unrelated MPC patients that met Hereditary Breast and Ovaria Cancer criteria, both presenting triple negative breast tumors and no mutations in BRCA1, BRCA2 and TP53 genes. Germline rearrangements on chromosome 7q, involving over 40 Mb of the same region, were found in both patients: one with mosaic loss (80% of cells) and the other with cnLOH (copy-neutral loss of heterozygosity) secondary to maternal allele duplication. Five children tested had no alterations on 7q. The patients shared 330 genes in common on 7q22.1-q34, including several tumor suppressor genes (TSGs) previously related to breast cancer risk and imprinted genes. The analysis of the triple negative BC from one patient revealed a mosaic gain of 7q translated for over-expressed cancer-related genes. The involvement of TSGs and imprinted genes, mapped on 7q, has the potential of being associated to MPC risk, as well as cancer progression. To our knowledge, this is the first description of patients with MPCs that harbor constitutive large alterations on 7q.

Primary diffuse large B-cell lymphoma of the lower eyelid.

An 80-year-old woman presented with a palpable mass in the central right lower eyelid, with no visible alterations of the overlying skin or eyelid margin, and no signs of inflammation. Eversion of the eyelid revealed an ulcerating lesion approximately 8 mm in diameter, suggesting malignant lesion. Excision with eyelid reconstruction using the Hughes technique was performed. Histopathological analysis revealed a diffuse infiltrate with large atypical lymphocytes. Borders of the surgical resection were free from infiltration. Histochemical staining of the proliferating cells with monoclonal antibodies was positive for CD20 and CD79a, and polyclonal antibodies were positive for Lambda chains, confirming a diffuse large B-cell lymphoma. After 24 months' follow-up there has been no local or systemic recurrence of the disease. Lymphoma may present as an ulcerating lesion of the tarsal conjunctiva. Complete surgical excision, with no evidence of systemic disease, may be considered to carry a good prognosis and survival.

[Onset of Behçet's disease as meningoencephalitis and sudden blindness]. / Debut de la enfermedad de Behçet como meningoencefalitis y amaurosis súbita.

CASE REPORT: A 41-year-old man presented a clinical picture characterized by lymphocytic meningoencephalitis, visual loss in both eyes and transverse sinus thrombosis. This picture was treated with prednisone and anticoagulation. Fundus examination showed complete occlusive arteritis, periphlebitis, peripheral ischemia and perfusion macular defects affecting both eyes. The picture was suggestive of Behçet's disease. Azathioprine was added to the treatment without improvement in visual acuity. Four months later oral aphthous ulcers developed, confirming the suspected diagnosis. DISCUSSION: Behçet's disease may appear with the sudden onset of visual loss secondary to massive occlusive retinal vasculitis. The critical state of neuro-Behçet disease may delay the diagnosis. This combination of visual and neurological symptoms is associated with a poor visual prognosis (Arch Soc Esp Oftalmol 2002; 77: 275-278).

Debut de la enfermedad de Behçet como meningoencefalitis y amaurosis súbita / Onset of Behçet's disease as meningoencephalitis and sudden blindness

Caso clínico: Paciente varón de 41 años debuta con cuadro de meningoencefalitis linfocitaria y pérdida visual bilateral, además de trombosis del seno transverso, iniciándose tratamiento mediante prednisona y anticoagulación. A nivel retiniano se apreció una arteritis oclusiva, signos de periflebitis, isquemia periférica y falta de perfusión macular en ambos ojos. El cuadro fue sugerente de enfermedad de Behçet añadiéndose Azatioprina a la terapéutica sistémica sin objetivarse mejoría visual. Cuatro meses más tarde el paciente desarrolló aftas orales lo que ayudó a confirmar el diagnóstico. Discusión: La enfermedad de Behçet puede debutar con pérdida súbita de la visión secundaria a una oclusión arterítica retiniana masiva. El estado crítico del debut como neuro-Behçet puede hacer retrasar el diagnóstico. Esta asociación conlleva un mal pronóstico visual (AU)

Apoprotein B in subretinal fluid.

We studied the presence of apolipoprotein B (apo B) by immunoelectrophoresis in subretinal fluid (SRF) and serum from 15 rhegmatogenous retinal detachments and 5 retinal detachments with proliferative vitreoretinopathy (PVR). Apo B concentration +/- standard deviation was 1.49 +/- 1.06 mg/dl in SRF and 108.41 +/- 40.22 mg/dl in serum. Only in four cases was apo B not detected in SRF. We found no significant correlation between apo B concentrations in SRF and apo B levels in serum. We did not find a positive correlation between apo B concentrations in SRF and the duration and size of the detachments. There was no statistical relationship between the presence of PVR and apo B levels. This phenomenon suggests the preservation of the outer blood retinal barrier during rhegmatogenous retinal detachment.