Determining personalized treatment by gene expression profiling in metastatic breast carcinoma patients: a pilot study.

PURPOSE: The present study evaluates the massive study of gene expression in metastatic breast carcinoma (MBC) patients using microarray gene expression profiling (MAGE) complemented with conventional sequencing, immunohistochemistry (IHC) and fluorescent "in situ" hybridization (FISH), seeking to optimize the treatment in a subset of heavily pretreated patients and with limited life expectancy. PATIENTS, MATERIAL AND METHODS: MBC patients in hormone therapy progression with survival expectancy of at least 3 months (m) have been included. The MAGE contains gene probes representing genes known to potentially interact with available drugs as cited in the literature. RESULTS: Thirty-nine procedures were performed from October 2010 to April 2016. Within the 30 evaluable procedures, considering all hormonal manipulations as a single line, the patients had received a median of 4 treatment lines prior to MAGE (range 1-7). Progression was observed in 6 cases, stable disease (SD) in 7 cases and partial response (PR) in 16 cases, which implies a clinical benefit rate (SD + PR) of 76%. Actuarial median progression-free survival (PFS) was 6 m (95% CI 2.5-9.5) in patients with clinical benefit. The median overall survival (OS) for the entire series was 11 m (95% CI 2.2-19.8). CONCLUSION: Data presented here indicate that the use of MAGE provides relevant information to establish personalized treatment in frail patients with limited life expectancy in which therapeutic futility is a particularly difficult burden to assume.

Nephrotic syndrome as paraneoplastic manifestation of a primary pulmonary lymphoepithelioma-like carcinoma.

We present a case of nephrotic syndrome secondary to a membranous glomerulonephritis (MG), in a nonsmoking female with a solitary pulmonary nodule, which did not show growth during 2 years of followup. A biopsy by videothoracoscopy showed a granulomatous non-neoplastic process with giant multinucleated cells. The appearance of a nephrotic syndrome and its interpretation as paraneoplastic revealed the existence of a primary pulmonary lymphoepithelioma-like carcinoma (LELC), a very rare pulmonary tumor. After resection of tumor there was a complete recovery from the nephrotic syndrome. This case highlights how the investigation of paraneoplastic syndromes can help in the early diagnosis of some malignancies.

A novel EGFR nonsense mutation in a non-small-cell lung cancer (NSCLC) patient who did not derive any clinical benefit with combination chemotherapy and erlotinib.

Most of the somatic epidermal growth factor receptor (EGFR) mutations described to date in non-smallcell lung cancer (NSCLC) patients are located in the kinase domain and are considered activating mutations. Some of these mutations are associated with response to specific EGFR tyrosine kinase inhibitors (TKI) such as gefitinib and erlotinib. Here we report a case of a previously undescribed EGFR nonsense mutation in a lung adenocarcinoma patient who did not derive any clinical benefit with combination chemotherapy and erlotinib. To the best of our knowledge this is the second report in the literature describing an EGFR nonsense mutation in lung cancer patients.

A novel EGFR nonsense mutation in a non-small-cell lung cancer (NSCLC) patient who did not derive any clinical benefit with combination chemotherapy and erlotinib

Most of the somatic epidermal growth factor receptor (EGFR) mutations described to date in non-smallcell lung cancer (NSCLC) patients are located in the kinase domain and are considered activating mutations. Some of these mutations are associated with response to specific EGFR tyrosine kinase inhibitors (TKI) such as gefitinib and erlotinib. Here we report a case of a previously undescribed EGFR nonsense mutation in a lung adenocarcinoma patient who did not derive any clinical benefit with combination chemotherapy and erlotinib. To the best of our knowledge this is the second report in the literature describing an EGFR nonsense mutation in lung cancer patients (AU)

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Solitary focus in the liver in a thyroid cancer patient after a whole body scan with 131 iodine.

A 51-year-old woman diagnosed with follicular variant of papillary thyroid carcinoma underwent a total thyroidectomy followed four weeks later by an ablative dose of 3.7 GBq of 131I. A whole body scan 5 days after ablation showed an intense uptake within the thyroid bed and a focal uptake located in the right lung base or liver dome. Computed tomography examination revealed a hypodense hepatic node in segment VII resembling a liver metastasis. Histological examination after ultrasound-guided fine-needle aspiration characterized the lesion as a liver abscess. The abscess regressed after antibiotic therapy. Liver metastases from papillary thyroid carcinoma are uncommon. On the other hand, false positive findings of 131I whole body scans have been described. A focal hepatic uptake might represent a metastasis (rare in papillary carcinomas) or be related to other causes (cysts, inflammation or infection, non-thyroidal neoplasms, etc.).

Controversial origin of Pseudomyxoma peritonei

Pseudomyxoma peritonei describes the accumulation of mucinous material in the abdominal cavity. The main diagnostic problem appears when the primary site of origin could be appendix or ovary. In this paper describe clinicopathological features and biological markers that support appendiceal origin (AU)