Retrospective study assessing the role of MRI in the diagnostic procedures for early breast carcinoma: a correlation of new foci in the MRI with tumor pathological features.

BACKGROUND: Use of breast magnetic resonance imaging (MRI) to detect breast cancer has generated significant debate. We analyze the role of breast MRI in the detection of additional disease and the need to perform additional biopsies in early breast carcinoma patients. In addition, we correlate the detection of new foci with tumor pathological features. METHODS: Early breast carcinoma patients that had undergone an MRI as well as a mammography as diagnostic procedures were included in the study. The following pathologic features were studied: carcinoma type, histological grade, estrogen receptors (ER), progesterone receptors (PR), HER2 and Ki67. Univariate analysis was conducted to ascertain significant correlation among detection of new foci and each of the tumor pathological features. RESULTS: Data from 98 patients have been analyzed: median age 49 years (range 35-79); carcinoma type: (a) infiltrative ductal carcinoma (n = 73, 74 %), (b) infiltrative lobular cancer (n = 12, 12 %), (c) ductal carcinoma in situ (n = 6, 6 %); amplified HER2 (n = 18, 18 %); grade III (n = 33, 33 %); Ki67 ≥ 25 % (n = 33, 33.67 %); positive ER and PR (n = 79, 80 %); triple negative tumors (n = 8, 8 %). MRI detected additional disease in 38 cases (39.58 %), and 20 led to an additional biopsy (20.4 %). Thirty-eight patients (39 %) underwent mastectomy. We found a statistically significant correlation between new foci in MRI and high Ki67 ≥ 25 % (p < 0.005). No other statistically significant correlation was established. CONCLUSION: MRI detected additional disease in 39 % cases, requiring an additional biopsy 20 %. Tumors with high proliferative index were significantly correlated with the detection of new foci in MRI.

A comparison of three methods for detecting KRAS mutations in formalin-fixed colorectal cancer specimens.

BACKGROUND: KRAS mutation testing is required to select patients with metastatic colorectal cancer (CRC) to receive anti-epidermal growth factor receptor antibodies, but the optimal KRAS mutation test method is uncertain. METHODS: We conducted a two-site comparison of two commercial KRAS mutation kits - the cobas KRAS Mutation Test and the Qiagen therascreen KRAS Kit - and Sanger sequencing. A panel of 120 CRC specimens was tested with all three methods. The agreement between the cobas test and each of the other methods was assessed. Specimens with discordant results were subjected to quantitative massively parallel pyrosequencing (MPP). DNA blends were tested to determine detection rates at 5% mutant alleles. RESULTS: Reproducibility of the cobas test between sites was 98%. Six mutations were detected by cobas that were not detected by Sanger, and five were confirmed by MPP. The cobas test detected eight mutations which were not detected by the therascreen test, and seven were confirmed by MPP. Detection rates with 5% mutant DNA blends were 100% for the cobas and therascreen tests and 19% for Sanger. CONCLUSION: The cobas test was reproducible between sites, and detected several mutations that were not detected by the therascreen test or Sanger. Sanger sequencing had poor sensitivity for low levels of mutation.

Composite anatomical-clinical-molecular prognostic model in non-small cell lung cancer.

The objective of the present study was to elaborate a survival model that integrates anatomic factors, according to the 2010 seventh edition of the tumour, node and metastasis (TNM) staging system, with clinical and molecular factors. Pathologic TNM descriptors (group A), clinical variables (group B), laboratory parameters (group C) and molecular markers (tissue microarrays; group D) were collected from 512 early-stage nonsmall cell lung cancer (NSCLC) patients with complete resection. A multivariate analysis stepped supervised learning classification algorithm was used. The prognostic performance by groups was: areas under the receiver operating characteristic curve (C-index): 0.67 (group A), 0.65 (Group B), 0.57 (group C) and 0.65 (group D). Considering all variables together selected for each of the four groups (integrated group) the C-index was 0.74 (95% CI 0.70-0.79), with statistically significant differences compared with each isolated group (from p = 0.006 to p < 0.001). Variables with the greatest prognostic discrimination were the presence of another ipsilobar nodule and tumour size > 3 cm, followed by other anatomical and clinical factors, and molecular expressions of phosphorylated mammalian target of rapamycin (phospho-mTOR), Ki67cell proliferation index and phosphorylated acetyl-coenzyme A carboxylase. This study on early-stage NSCLC shows the benefit from integrating pathological TNM, clinical and molecular factors into a composite prognostic model. The model of the integrated group classified patients with significantly higher accuracy compared to the TNM 2010 staging.

Expression signatures in lung cancer reveal a profile for EGFR-mutant tumours and identify selective PIK3CA overexpression by gene amplification.

The development of targeted therapies creates a need to discriminate tumours accurately by their histological and genetic characteristics. Here, we aim to identify gene expression profiles and single markers that recapitulate the pathological and genetic background of non-small cell lung cancer (NSCLC). We performed cDNA microarray analysis on a series of 69 NSCLCs, with known mutation status for important genes, and six normal lung tissues. Unsupervised cluster analysis segregated normal lungs from lung tumours and lung tumours according to their histopathology and the presence of EGFR mutations. Several transcripts were highly overexpressed (by approximately 20 times) in squamous cell carcinomas (SCCs) relative to adenocarcinomas (ACs) and confirmed by immunohistochemistry in an independent cohort of 75 lung tumours. Expression of 13 genes constituted the most prominent hallmarks of EGFR-mutant tumours, including increased levels of proline dehydrogenase (PRODH) and down-regulation of X-box binding protein 1 (XBP1). No genes were differentially expressed, with a fold change >or= 4 or

[An unusual presentation of a pilomatrixoma in the eyelid]. / Presentación inusual en el párpado de pilomatricoma.

CASE REPORT: A 32-year-old man developed a lesion, over a period of 1 year, at the margin of the right upper eyelid. The presumed diagnosis was a pyogenic granuloma. An excision biopsy was performed and the histopathologic diagnosis was a pilomatrixoma. DISCUSSION: Eyelid pilomatrixoma is commonly misdiagnosed preoperatively and is extremely rare in middle-aged patients.

[Meningioangiomatosis: report of two cases and literature review]. / Meningioangiomatosis. Descripción de dos casos y revisión de la literatura.

Meningioangiomatosis (MA) is a rare benign intracraneal lesion. The majority of cases are sporadic although the association of this lesion with familial neurofibromatosis (NF) type 2 is well known. NF-associated MA may be multifocal and is often asymptomatic and diagnosed at autopsy. Non-associated cases are usually symptomatic, occurs in children and young adults and frequently arise in leptomeninges and underlying cerebral cortex. In the present work, we describe two new non-associated cases of MA in two boys, seven and one year old with seizures that disappeared after surgical excision. Histopathologically, the lesion was predominantly cellular in one case and more fibrous in the other. From the literature review we concluded that sporadic cases present as single lesions which manifest by seizures or persistent headaches. Rarely MA has been described to coexist with meningiomas. Histopathologically, MA is characterized by a plaque-like proliferation of meningothelial and fibroblast- like cells surrounding small vessels and trapping islands of gliotic cortical tissue. The lesion does not show significant atypia, mitosis or necrosis. Although all cases of MA share unifying features, there are different degrees of histological presentation with cases predominantly cellular and others more fibrous and calcified. This could correspond to different stages in the evolution of the MA. Symptoms disappear with the complete excision of the lesion.

[Unusual cortical compromise in a case of Wernicke's encephalopathy]. / Afectación cortical inusual en un caso de encefalopatía de Wernicke.

INTRODUCTION: Wernicke's encephalopathy (WE) is a metabolic disease due to thiamine deficiency; only 10% of cases are diagnosed pre-mortem. Symptoms of WE include ophthalmoplegia, nistagmus, ataxia and mental confusion; post-mortem examination shows characteristic symmetrical lesions in the mamillary bodies (MB), hypothalamus, thalamus, brain stem and cerebellum with spongiosis, demyelination, vascular proliferation and relative preservation of neurons. CASE REPORT: 50 years-old male with alcoholic hepatopathy and orthotopic hepatic transplant who suffered a second surgical intervention 10 days after due to problems in the biliar anastomosis. After this second surgery he showed an altered mental status, with fluctuating global confusion, disorientation and agitation. He died 52 days after the hepatic transplantation. Autopsy study showed bilateral broncopneumonia, brown discoloration of the MB and bilateral linear lesions in the cortex of both motor gyri, which histologically showed identical to the MB lesions with demyelination, capillary and glial proliferation and preservation of neurons. Alzheimer type II astrocytes were also found in basal nuclei and cortex. CONCLUSIONS: Typical WE lesions affect MB, hypothalamus, thalamus, brain stem and cerebellum; cortical lesions, when found, are due to hepatocerebral degeneration with Alzheimer type II astrocytes or to the citopathic effects of ethanol. In our case, cortical lesions were identical to the lesions found in MB, an extraordinary finding which we have not found reported in the literature.