Healing of tumor-induced osteomalacia as assessed by high-resolution peripheral quantitative computed tomography is not similar across the skeleton in the first years following complete tumor excision.

Tumor-induced osteomalacia is caused by excessive fibroblast growth factor 23 production mainly from phosphaturic mesenchymal tumors. Surgical excision or tumor ablation are the preferred treatment. Information on bone microarchitecture parameters assessed by high-resolution peripheral quantitative computed tomography is limited. We report a woman with hypophosphatemic osteomalacia with generalized pain, weakness and recurrent fractures, and a large thoracic vertebral mass extending to the posterior mediastinum. Detailed radiologic and histopathologic evaluation revealed a phosphaturic mesenchymal tumor. Two surgeries were necessary for complete removal of the mass. Clinical symptoms improved after attaining normophosphatemia. Four-year post-surgical HR-pQCT parameters, compared to baseline, showed in the left distal radius, stable trabecular and cortical volumetric bone mineral density although below reference range. There was stability of trabecular number and thickness. Both stiffness and failure load decreased. A shift in cortical parameters was noted in year 2. In the left distal tibia, trabecular volumetric bone mineral density decreased whereas cortical volumetric bone mineral density markedly increased, as did cortical area. There was stability in the trabecular number and thickness. Both stiffness and failure load improved. Findings from HR-pQCT measurements in this patient disclosed that the healing of osteomalacia is not similar across the peripheral skeletal sites in the first years following tumor removal. Results contrasted low but stable volumetric bone mineral density in the distal radius with increase in the distal tibia at the expense of cortical bone. Our report helps further delineate the pattern of bone healing after treatment of this rare bone disorder.

Measurement of extracapsular extension in sentinel lymph node as a possible predictor of residual axillary disease in breast cancer

Abstract Background The presence of Extracapsular Extension (ECE) in the Sentinel Lymph Node Biopsy (SLNB) is still a doubt in the literature. Some studies suggest that the presence of ECE may be related to a greater number of positive axillary lymph nodes which could impact Disease Free Survival (DFS) and Overall Survival (OS). This study searches for the clinical significance of the ECE. Methods Retrospective cohort comparing the presence or absence of ECE in T1-2 invasive breast cancer with positive SLNB. All cases treated surgically at the Cancer Institute of the State of São Paulo (ICESP) between 2009 and 2013 were analyzed. All patients with axillary disease in SLNB underwent AD. Outcomes Identify the association between the presence and length of ECE and additional axillary positive lymph nodes, OS and DFS between both groups. Results 128 patients with positive SLNB were included, and 65 had ECE. The mean metastasis size of 0.62 (SD = 0.59) mm at SLNB was related to the presence of ECE (p < 0.008). The presence of ECE was related to a higher mean of positive sentinel lymph nodes, 3.9 (± 4.8) vs. 2.0 (± 2.1), p = 0.001. The median length of follow-up was 115 months. The OS and DFS rates had no differences between the groups. Conclusion The presence of ECE was associated with additional positive axillary lymph nodes in this study. Therefore, the OS and DFS were similar in both groups after 10 years of follow-up. It is necessary for additional studies to define the importance of AD when SLNB with ECE.

Doege-Potter syndrome associated to metastatic solitary fibrous tumor

ABSTRACT Solitary fibrous tumor (SFT) is a rare fibroblastic mesenchymal neoplasm with an estimated annual incidence of 0.35 per 100,000 individuals. Doege-Potter syndrome is a paraneoplastic syndrome related to solitary fibrous tumor clinically characterized by hypoglycemia, occurring in less than 5% of cases. Herein, we report a case of metastatic SFT associated with recurrent severe hypoglycemia. A 43-year-old male with a noncontributory medical history presented with a painless and progressive growing mass in the right thigh. The histological evaluation rendered the diagnosis of SFT, and tumor resection was performed. One year after the operation, on the oncological follow-up, he was admitted to the emergency unit, manifesting an early-morning seizure associated with a severe hypoglycemia. The laboratory findings of non-islet cell tumor hypoglycemia (NICTH) in the background of a relapsed metastatic solitary fibrous tumor were consistent with the diagnosis of Doege-Potter syndrome. Hepatic embolization associated with oral glucocorticoid was an efficient palliative treatment to control the hypoglycemic crisis and allow hospital discharge.

Avaliação gênica de isocitrato desidrogenase 1, alfa-internexina, fator de crescimento epidérmico, O6-metilguanina-DNA metiltransferase e codeleção 1p/19q como fator prognóstico em astrocitomas anaplásicos / Isocitrate dehydrogenase 1, alpha-internexin, epidermal growth factor receptor, O6-methylguanine-DNA methyltransferase and 1p / 19q codeletion as prognostic factors in anaplastic astrocytomas

INTRODUÇÃO e OBJETIVOS: Os astrocitomas anaplásicos (AAs) são gliomas classificados como grau III pela OMS, constituindo um grupo intermediário de agressividade e uma zona cinzenta na atuação clínica e interpretação histológica. Além disso, o material obtido nas neurocirurgias muitas vezes é pouco representativo, seja por amostras exíguas, seja por amostragem da periferia da lesão. Metodologias como imuno-histoquímica, hibridização in situ e/ou sequenciamento tem sido amplamente utilizadas para analisar a expressão e a validação de marcadores biológicos de agressividade, reclassificar as entidades e avaliar as vias de tumorigênese, com o intuito também de direcionar a terapêutica. Nos gliomas, algumas alterações moleculares têm sido pesquisadas, como em IDH1, alfa-internexina (INA), EGFR, MGMT e nos cromossomos 1p/19q, sem caracterização precisa nos AAs. O presente estudo pretendeu avaliar tais alterações moleculares em material parafinado e correlacionar com dados clínicos e anátomo-patológicos. MATERIAL E MÉTODOS: Estudamos 22 casos de AA, com diagnóstico histopatológico confirmado por 2 patologistas. Os dados clínicos e demográficos (idade, gênero, localização, KPS ao diagnóstico, dimensão e tratamento utilizado) foram obtidos dos prontuários. A pesquisa de expressão de IDH1, INA e MGMT foi realizada por imuno-histoquímica (IHQ). A determinação do estatus 1p/19q foi realizada por FISH. A pesquisa do gene EGFR e sua expressão proteica foi realizada pelos 2 métodos (IHQ e FISH). RESULTADOS: Os pacientes incluídos neste estudo apresentaram média de idade de 41,7 anos, sendo 14 mulheres e 8 homens. A maioria dos casos era de localização intracerebral. 13 casos foram considerados "de novo" (primários) e 9 provenientes de recidivas de astrocitomas difusos. Terapia adjuvante foi realizada em 20 pacientes, sendo que em 14 pacientes a radio (RT) e a quimioterapia (QT) foram concomitantes, em 3 casos foram tratados exclusivamente com QT e 3 exclusivamente com RT. A positividade para IDH1 (R132H) foi identificado em metade dos casos. A positividade forte e de membrana para EGFR foi identificada em 4 casos. A positividade para MGMT foi identificada em praticamente todos os casos. Não foi observado nenhum caso de codeleção 1p/19q, mas 9 casos apresentaram ganhos de 1p e 7 casos ganhos de 19q. Não foi identificada positividade para INA. Foi observada associação entre ressecção cirúrgica parcial, amplificação e expressão imuno- histoquímica forte e padrão membrana de EGFR, imunonegatividade para IDH1-mutado, ganho de 19q e ausência de terapia adjuvante como fatores associados à redução da taxa de sobrevida global. Assim, status de EGFR, IDH1 e 19q, tipo de cirurgia e tratamento adjuvante parecem ser fatores prognósticos em AAs.

INTRODUCTION and AIMS: Anaplastic astrocytomas (AAs) are classified as grade III gliomas by WHO, constituing an intermediate group of malignancy and a gray zone for clinical management and histological interpretation. In addition, through technical difficulties, the material obtained from neurosurgery is often suboptimal, either by too small samples or by sampling the periphery of the lesion. Immunohistochemistry, in situ hybridization and / or sequencing has been widely used to analyze the biomarkers expression and validation, to predict aggressiveness, reclassify and evaluate tumorigenesis pathways and guide the therapeutics. In gliomas, some molecular alterations have been researched, such as IDH1, alphainternexin (INA), EGFR, MGMT and status 1p / 19q, without precise characterization in AAs. This study aimed to evaluate such molecular changes in paraffin embedded material and correlate with clinical and pathological data. MATERIALS AND METHODS: We studied 22 cases of AA, with histopathological diagnosis confirmed by two pathologists. Clinical and demographic data (age, gender, tumor location, KPS at diagnosis, size and treatment used) were obtained from medical records. IDH1 (R132H), INA and MGMT expression were evaluated by immunohistochemistry (IHC). The determination of the status 1p / 19q was evaluated by FISH. The number of EGFR gene copies and its protein expression were obtained by both methods (IHC and FISH). RESULTS: The patients included in this study had a mean age of 41.7 years, being 14 women and 8 men. Most cases were intracerebral. 13 cases were considered "de novo" (primary) and 9 relapses from diffuse astrocytomas. Adjuvant therapy was performed in 20 patients: 14 had radio (RT) and chemotherapy (CT) simultaneously, 3 were treated exclusively with CT and 3 exclusively with RT. Immunopositivity for IDH1 (R132H) was identified in half of the cases. The strong and membrane pattern positivity of EGFR was identified in 4 cases. The positivity for MGMT was identified in virtually all cases. There were no cases of 1p / 19q codeletion, but 9 cases showed gains of 1p and 7 had 19q gains. None case was positive for INA. Association was observed between partial surgical resection, amplification and strong membrane pattern EGFR imunoexpression, imunonegativity for IDH1-mutated, 19q gain and absence of adjuvant therapy as factors associated with reduced overall survival rate. Thus, status of EGFR, IDH1 and 19q, extension of surgery and adjuvant treatment appear to be prognostic factors in AA.

Angioleiomyoma of the nasal cavity.

Introduction Vascular leiomyoma of the nasal cavity is an extremely rare tumor that represents less than 1% of all vascular leiomyomas. It is more prevalent in women between the fourth and sixth decades, reaching primarily the inferior nasal turbinates. Objectives Reporting and assisting the systematization of more accurate diagnostic methods in clinical and complementary investigation of vascular leiomyoma in the nasal cavity. Resumed Report We present the case of a 49-year-old woman diagnosed with vascular leiomyoma in the nasal cavity, which manifested mainly with nasal obstruction. During investigation, computer tomography was not diagnostic, the cytologic study was not conclusive, and according to the biopsy, it was a squamous papilloma. Conclusion We suggest that the technical difficulty in obtaining an adequate amount of material for preoperative biopsy, associated with the topography of the lesion in the vestibular nasal region, may have contributed to changing the postoperative diagnosis. Thus, pathologic study of the surgical fragment is the more accurate method for diagnosis.

Angioleiomyoma of the Nasal Cavity

Introduction Vascular leiomyoma of the nasal cavity is an extremely rare tumor that represents less than 1% of all vascular leiomyomas. It is more prevalent in women between the fourth and sixth decades, reaching primarily the inferior nasal turbinates. Objectives Reporting and assisting the systematization of more accurate diagnostic methods in clinical and complementary investigation of vascular leiomyoma in the nasal cavity. Resumed Report We present the case of a 49-year-old woman diagnosed with vascular leiomyoma in the nasal cavity, which manifested mainly with nasal obstruction. During investigation, computer tomography was not diagnostic, the cytologic study was not conclusive, and according to the biopsy, it was a squamous papilloma. Conclusion We suggest that the technical difficulty in obtaining an adequate amount of material for preoperative biopsy, associated with the topography of the lesion in the vestibular nasal region, may have contributed to changing the postoperative diagnosis. Thus, pathologic study of the surgical fragment is the more accurate method for diagnosis...

Results of a control quality strategy in cervical cytology / Resultados de uma estratégia de controle de qualidade em colpocitologia

Objective: To determine the efficacy of a quality control strategy in cervical cytology in the detection of high-grade squamous intraepithelial lesions. Methods: Forty-two patients were selected who underwent a Pap smear and cervical uterine biopsy between April 2008 and December 2009, with evidence of a high-grade squamous intraepithelial lesion in one or both tests. The statistical parameters of the smear test were calculated before and after systematic meetings for review of the archived test results (6 years), in which the following was done: interobserver diagnostic consensus; cytohistological correlation, with the latter as gold standard; and evaluation of the therapeutic status of each patient. Results: Once these controls were applied, it was noted that sensitivity and positive likelihood ratio of the test for high-grade squamous intraepithelial lesion increased 9.5% (34.5 to 44%) and 0.45% (1.64 to 2.09%), respectively, while specificity remained at 79%. Reduction in interference of false-negative results associated with errors in the analytical phase of the cytological productive process gave an estimate of failures in collection of the specimens (pre-analytical phase). Conclusion: In addition to improving the performance of the cytological diagnosis of the high-grade squamous intraepithelial lesion, the proposed quality control strategy allows a reflection on the causes of incorrect or conflicting scrutiny.

Objetivo: Determinar a eficácia de uma estratégia de controle de qualidade em colpocitologia na detecção da lesão intraepitelial escamosa de alto grau. Métodos: Foram selecionadas 42 pacientes que realizaram Papanicolaou e biópsia cervicouterina entre abril de 2008 e dezembro de 2009, com evidência de lesão intraepitelial escamosa de alto grau em um ou em ambos os exames. Os parâmetros estatísticos do esfregaço foram calculados antes e após reuniões sistematizadas de revisão dos exames arquivados (6 anos), nas quais se procedeu a: consensualização diagnóstica interobservadores; correlação cito-histológica, sendo a última padrão-ouro; e avaliação do status terapêutico de cada paciente. Resultados: Aplicados tais controles, observou-se que a sensibilidade e a likelihood ratio positiva do teste para lesão intraepitelial escamosa de alto grau aumentaram 9,5% (34,5 para 44%) e 0,45% (1,64 para 2,09%), respectivamente, enquanto sua especificidade se manteve em 79%. A redução da interferência dos falso-negativos associados a erros na fase analítica do processo produtivo citológico traz estimativa das falhas de coleta do material (fase pré-analítica). Conclusão: Além de melhorar o desempenho do diagnóstico colpocitológico de lesão intraepitelial escamosa de alto grau, a estratégia de controle de qualidade proposta permite refletir sobre as causas de escrutínio incorreto ou discordante.