Non-Secretory Multiple Myeloma Associated With High-Risk Phenotype and Complex Cytogenetics Including t(8;22).

Multiple myeloma (MM) is a plasma cell dyscrasia which is typically characterized by identifiable paraprotein in the blood or urine. However, the minority of patients in whom paraprotein cannot be identified are designated non-secretory MM (NSM). Evaluation of treatment response is more difficult in these patients as paraprotein levels cannot be followed. A dearth of clinical trials including these patients exists because of an inability to measure response by classical serum and urine measurement mechanisms as well as seemingly decreased overall survival compared to secretory MM. NSM is subdivided into four subgroups: "non-producers", "true non-secretors", "oligosecretors" and "false non-secretors". The "non-producers" phenotype is associated with more aggressive disease course. Translocations such as those involving the proto-oncogene c-MYC (chromosome 8) and the lambda light chain gene IGL (chromosome 22) - more commonly associated with Burkitt lymphoma - are rare in MM. We describe a 60-year-old male with NSM who was identified as having multiple high-risk features including complex cytogenetics and a non-producer phenotype, which are features not considered in conventional MM staging and risk stratification. This case highlights the need for awareness of phenotypes and cytogenetics associated with higher clinical risk that are not included in the revised International Staging System.

Descrição, constituição e aspectos associados à formação dos fetos Perosomus elumbis / Description, composition and aspects associated with the formation of fetus Perosomus elumbis / Descripción, composición y aspectos asociados a la formación de fetos Perosomus elumbis

O feto Perosomus elumbis está inserido num vasto grupo de doenças congênitas raras e de etiologias desconhecidas dentro da medicina veterinária. Por ser de baixa ocorrência, e de difícil acesso e investigação científica, há dificuldade em realizarem-se estudos e conclusões sobre a doença. Com sobrevida máxima de dois dias, sendo a maioria dos fetos natimortos, a anomalia caracteriza-se principalmente por agenesia (ausência ou formação incompleta de um órgão) parcial da medula espinhal, terminando em fundo cego nas últimas vértebras torácicas, e ausência de vértebras lombares, sacrais e coccígeas, convergindo para anomalias secundárias que envolvem artrogripose (flexão ou contratura congênita de uma articulação), atrofia muscular de membros pélvicos e outras malformações subsequentes. Observa-se também a possibilidade de ocorrer anormalidades congênitas concomitantemente à formação desses fetos.

The fetus Perosomus elumbis is inserted in a wide group of rare diseases congenital of etiology unknown in medicine veterinary. Being of low occurrence, hinder study and conclusions about the disease. With maximum survival of two days, being the most of stillbirth fetus, the anomaly is characterized principally by agenesis partial of spinal cord, finishing in the last thoracic vertebrae, and absence of formation of vertebra, diverging to malformation secondary that involve arthrogryposis, atrophy muscular of articulations pelvic and others malformations subsequent. It is also observed the possibility of congenital abnormalities occur concurrently with the formation of these fetuses.

El feto Perosomus elumbis se inserta en una amplia gama de enfermedades congénitas raras y con etiologías desconocidas en Medicina Veterinaria. Debido a su baja incidencia, y de difícil acceso e investigación científica, hay dificultad en realizar estudios y conclusiones acerca de la enfermedad. Con un máximo de supervivencia de dos días, la mayoría de los fetos nacidos muertos, la anomalía se caracteriza principalmente por agenesia parcial de la médula espinal (ausencia o formación incompleta de un órgano), que termina ciegamente en la última vértebra torácica, y ausencia de vértebras lumbares, sacras y coccígeas, que convergen en anomalías secundarias involucrando artrogriposis (flexión o contractura congénita de una articulación), atrofia muscular de miembros pélvicos y otras malformaciones subsecuentes. También se observa la posibilidad de ocurrir anormalidades congénitas concomitantemente a la formación de esos fetos.

Associação de mielomeningocele e mielocistocele: relato de caso / Association of myelomeningocele and myelocystocele: case report

Relatamos um caso de mielomeningocele dorsolombar associada à mielocistocele na região dorsal, interescapular em recém-nascido do sexo feminino. As correções cirúrgicas dos defeitos foram realizadas nas primeiras 24 horas. São revisadas as teorias de fechamento do tubo neural visando a uma justificativa para a associação dessas malformações.

We report a case of dorsal-lumbar myelomeningocele associated with a dorsal myelocistocele in a female newborn. The defects were surgically corrected in the first 24 hours. Revision of the neural tube closure theory was done, to justify the association of these malformation.

Oligodendroglial tumors with marked desmoplasia: clinicopathologic and molecular features of 7 cases.

Oligodendroglial tumors may rarely display striking desmoplasia resulting in unusual histologic patterns that have not been completely characterized. We reviewed the clinicopathologic findings of 7 such cases. Patients included 4 men and 3 women. Mean age at the time of primary surgery was 49 years (range, 31 to 57 y). All tumors were of World Health Organization grade III (4 anaplastic oligodendrogliomas and 3 anaplastic oligoastrocytomas). Characteristic morphologic features included tumor nests/nodules with surrounding fibrosis/desmoplasia (n=5), cords/single-cell infiltration (n=2), minigemistocytes (n=5), endothelial hypertrophy (n=6), and necrosis (n=1). Mean mitotic index was 9 mitoses per 10 high-power fields. Immunohistochemical studies demonstrated immunoreactivity for PDGFRα 1 to 3+ (5 of 6), PDGFRß 3+ (n=3 of 3), and EGFR 1 to 2+ (n=5 of 6). p53 protein expression was 1-2+ and MIB-1 labeling index was moderate. Four tumors showed 1p19q codeletion, 1 tumor showed 1p deletion only, and 2 tumors showed intact 1p19q loci. t(1:19) was identified in 2 (of 3) tested cases, both also with 1p19q codeletion, and was absent in the case with 1p loss only. IDH1R132H mutant protein was detected in 3 (of 6) cases, and an IDH mutation (R132S) was identified in an additional case by pyrosequencing. Clinical follow-up was available in 6 (of 7) patients (mean follow-up of 64.2 mo). Five (of 6) developed recurrence/progression at a mean interval of 49.2 months after primary diagnosis. Only 1 patient died of disease, 22.5 months after primary diagnosis. Oligodendroglial tumors with prominent desmoplasia are rare. Most cases demonstrate 1p19q codeletion and IDH1 mutations, and behave as expected for anaplastic oligodendroglial tumors.

Interphase cytogenetics for 1p19q and t(1;19)(q10;p10) may distinguish prognostically relevant subgroups in extraventricular neurocytoma.

Co-deletion of chromosome arms 1p and 19q, characteristic of oligodendroglial tumors, was recently found to be mediated by t(1;19)(q10;p10). To evaluate the prevalence of 1p19q co-deletion and t(1;19) in extraventricular neurocytomas (EVN), we studied tumors from 23 patients, including 13 females and 10 males (median age at diagnosis 34 years, range 2-76 years). Fluorescence in situ hybridization (FISH) studies were performed with probes targeting 1p36/1q25 and 19q13/19p13 to assess for 1p19q co-deletion, as well as chromosome 1 alpha-satellite and 19p12 to detect t(1;19)(q10;p10). FISH was successful in 21 (91%) cases and demonstrated 1p19q co-deletion in five cases (24%) or isolated 1p loss in two cases (10%). Evidence for t(1;19) was found in four (of five) cases with 1p19q co-deletion. Three tumors with 1p19q loss and t(1;19) demonstrated atypical histologic features, compared with one (of 17) tumors without 1p19q co-deletion (P = 0.01, Fisher exact test). In addition, tumors with t(1;19) showed increased mitotic activity compared with tumors without t(1;19) (P = 0.045; Wilcoxon rank sum test). The four patients with t(1;19) developed tumor recurrence (n = 3), or expired (n = 2) 3.5 to 5.5 years after first resection. These results suggest that 1p19q loss and t(1;19) occur in a subset of EVN, and may be associated with aggressive histology in these tumors.