Brachial plexus schwannoma mimicking advanced breast carcinoma.

BACKGROUND: Schwannoma is an extremely rare benign tumour of the peripheral nervous system; its association with breast cancer is sporadic, and its association with the brachial plexus is extremely rare. CASE DESCRIPTION: The authors report a case of a patient with breast cancer associated with nodulation in the left supraclavicular fossa, and due to the clinical and radiological features, it was considered metastatic lymph node disease. The patient underwent neoadjuvant chemotherapy, with partial response of the breast. Surgical treatment included resection of the supraclavicular nodule, which was found to be a supraclavicular fossa schwannoma. The correct diagnosis, influences the radiotherapeutic planning. The unusual presentation led to diagnostic confusion in the present case, a fact that changed the breast treatment. CONCLUSION: The best of our knowledge it is the third description of brachial plexus schwannoma associated with breast cancer and the first with a synchronous association. The knowledge of this pathology and its potential to alter treatment justify the reporting of the present case.

microRNA-138-5p as a Worse Prognosis Biomarker in Pediatric, Adolescent, and Young Adult Osteosarcoma.

Osteosarcoma (OS) is the most common primary malignant bone tumor with two peaks of incidence, in early adolescence and the elderly. Patients affected with this malignancy often present metastatic disease at diagnosis, and despite multimodality therapy, survival has not improved substantially over the past 3 decades. Recently, miR-138-5p, proposed as a crucial intracellular mediator of invasion, has been recognized to target the Rho-associated coiled-coil containing protein kinase 2 (ROCK2). Dysregulation of ROCK1 and ROCK2 was also described in OS, being associated to higher metastasis incidence and worse prognosis. Nonetheless, the specific roles of miR-138-5p in pediatric and young adult OS and its ability to modulate these kinases remain to be established. Thus, in the present study, the expression levels miR-138-5p were evaluated in a consecutive cohort of exclusively pediatric and young adult primary OS samples. In contrast to previous reports that included adult tissues, our results showed upregulation of miR-138-5p associated with reduced event-free survival and relapsed cases. In parallel, ROCK1 mRNA levels were significantly reduced in tumor samples and negatively correlated with miR-138-5p. Similar correlations were observed after studying the profiles of ROCK1 and ROCK2 by immunohistochemistry. Our data present miR-138-5p as a consistent prognostic factor in pediatric and young adult OS, reinforcing its participation in the post-transcriptional regulation of ROCK kinases.

Unsuspected Stewart-Treves syndrome clinically mimicked by apparent bullous erysipelas and a systematic review of dermatological presentations of the classical Stewart-Treves syndrome.

BACKGROUND: Stewart Treves-Syndrome (STS) was first characterized as angiosarcoma in the homolateral limb of a patient with breast cancer and lymphedema. Now, other conditions represent STS. It's a rare condition. The diagnosis is easier in the presence of single or multiple purple nodules. Even though other dermatological aspects have been reported, no study has grouped its characteristics. AIM: Evaluate the dermatological characteristics of classical STS (c-STS). METHODS AND RESULTS: We report a patient with chronic lymphedema with a history of recurrent erysipelas that rapidly developed multiple papules in the superior limb. It was initially diagnosed as bullous erysipelas, but unsatisfactory evolution led to biopsy, which demonstrated an unsuspected epithelioid angiosarcoma. We have also performed a review of dermatologic aspects of c-STS using PubMed and Lilacs databases. PICTOS methodology and PRISMA flow chart were considered. The main dermatological aspects associated with c-CTS were summarized. Using a systematic evaluation from 109 articles, 29 were selected and 44 patients were described to whom we added one case. The mean time with lymphedema was 10 years. Of the patients analyzed, 97.2% were female; 95.6% were submitted to radical mastectomy; 81.2% presented with multiple lesions, 67.4% of the lesions were reported as nodules or tumors, 53.4% were purple, 33.4% were associated with an ecchymotic halo, and 33.4% were ulcerated lesions. CONCLUSION: When evaluating patients with chronic lymphedema with new dermatological abnormalities, clinical suspicion, or unfavorable evolution, the knowledge of clinical signs is important for diagnosis, and a biopsy must be considered. Papules associated with erythematous-wine color and bluish hematoma aspect must raise clinical suspicion.

Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report.

BACKGROUND: Paraneoplastic pemphigus is a rare multiorgan disease of autoimmune causes, usually triggered by neoplasias, mainly of lymphoproliferative origin, such as leukemia and lymphoma. This disorder is categorized by the presence of autoantibodies that react against proteins, such as desmoplakins, desmogleins, desmocollins, and others that exist in cellular junctions. Paraneoplastic pemphigus can manifest clinically in a variety of ways, ranging from mucositis to lesions involving the skin and pulmonary changes. The diagnosis depends on the correlation between the clinical and histopathologic evaluations. Currently, the treatment of this disease is still very difficult and ineffective. The prognosis is poor, and the mortality rate is very high. CASE PRESENTATION: We report a case of a Caucasian patient who had chronic lymphocytic leukemia and developed paraneoplastic pemphigus with severe impairment of skin and mucosa. The initial diagnostic hypothesis was Stevens-Johnson syndrome. The histopathological examination of the skin biopsy was compatible with paraneoplastic pemphigus, and the definitive diagnosis was made on the basis of clinical-pathological correlation. CONCLUSIONS: With the presence of multiorgan lesions in patients with lymphoproliferative neoplasia, paraneoplastic pemphigus should always be considered among the possible diagnostic hypotheses, because diagnosis and early treatment may allow a better prognosis for the patient.

Incidental enchondromas at knee magnetic resonance imaging: intraobserver and interobserver agreement and prevalence of imaging findings / Encondromas incidentais nos exames de ressonância magnética do joelho: concordância intraobservador e interobservador e prevalência das características de imagem

Objective To evaluate intra- and interobserver agreement in the identification of incidental enchondromas at knee magnetic resonance imaging, and to assess the prevalence of imaging findings. Materials and Methods Retrospective study reviewing 326 knee magnetic resonance images acquired in the period between November 2009 and September 2010. The images were independently and blindly analyzed by two specialists in musculoskeletal radiology, with the objective of identifying incidental enchondromas, presence of foci with signal similar to bone marrow and foci of signal absence suggestive of calcifications within the enchondromas. Inter- and intraobserver agreements were analyzed. Results Eleven lesions compatible with enchondromas (3.3%) were identified. The interobserver agreement for the presence of enchondroma was high. Prevalence of foci of bone marrow signal inside the enchondromas was of 54.55%, and foci suggestive of calcification corresponded to 36.36%. The intraobserver agreement for foci of bone marrow signal in enchondromas was perfect, and interobserver agreement was high. Conclusion The prevalence of incidental enchondromas in the current study was compatible with data in the literature. Excellent agreement was observed in the identification of enchondromas and in the assessment of imaging findings. A higher prevalence of fat signal foci was observed as compared with signal absence suggestive of calcifications. .

Objetivo Avaliar a confiabilidade intra e interobservador na identificação de encondromas incidentais na ressonância magnética de joelho e estudar a prevalência das características de imagens destas lesões. Materiais e Métodos Estudo retrospectivo, com revisão de 326 ressonâncias magnéticas do joelho realizadas entre novembro de 2009 e setembro de 2010. As imagens foram analisadas por dois médicos especialistas em radiologia musculoesquelética, de forma independente e às cegas, visando a identificar encondromas incidentais, presença de focos com sinal semelhante à medula óssea e focos de ausência de sinal sugestivos de calcificações no interior dos encondromas. Foram realizadas análises das concordâncias inter e intraobservador. Resultados Foram identificadas 11 lesões compatíveis com encondromas (3,3%). A concordância interobservador para presença de encondroma foi alta. A prevalência de focos de sinal de medula óssea no interior dos encondromas foi 54,55% e de focos sugestivos de calcificação foi 36,36%. A concordância intraobservador para focos de sinal de medula óssea nos encondromas foi perfeita, e a concordância interobservador foi alta. Conclusão A prevalência de encondromas incidentais no trabalho atual foi consistente com a literatura. Foi observada excelente concordância no estudo de confiabilidade da identificação de encondromas e de suas características, notando-se maior prevalência de focos com sinal de gordura do que de calcificações. .

Clinico-genetic aspects of a pediatric non-neurofibromatosis type 1 malignant triton tumor with loss of chromosome X.

Malignant triton tumor (MTT) is an aggressive peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Less than 100 cases have been described, being mostly male children with type 1 neurofibromatosis. We report a 6-year-old female with MTT and no diagnostic criteria for neurofibromatosis type 1. Cytogenetic analysis showed a 46,X,-X[4]/46,XX[16] karyotype. She underwent a transfemoral amputation and chemotherapy and is free of disease 15 months after diagnosis. The few cytogenetic studies of MTT described in the literature have been inconclusive. Further cytogenetic analyses are needed to understand the role of chromosome X monosomy in the pathogenesis of this rare tumor.