Sleep features in Lymphangioleiomyomatosis and their relationship with disease severity: a pilot study.

Lymphangioleiomyomatosis (LAM) is a rare pulmonary disease characterized by progressive airflow limitation. We conducted a pilot trial to investigate the incidence of sleep disorders, sleep quality and their relationship with disease severity. We performed pulmonary function tests, blood gas analysis, overnight 12-channels polysomnography and clinical assessments in 15 consecutive LAM patients. For statistics, p values < 0.05 were considered significant. Sleep efficiency (SE) was inversely correlated with RV/TLC (p = 0.035) and positively with daytime SpO2 (p = 0.010) and PaO2 (p = 0.011). Three cases had obstructive sleep apnea (OSA); seven patients (46.7%) showed a REMOSA. AHIREM was correlated with FEV1% (r = 0.75, p = 0.003), TLC% (r = 0.57, p = 0.026), RV% (r = 0.8, p=<0.0001) and RV/TLC (r = 0.77, p = 0.001). No correlations were observed between anxiety/depression and SE, CAP rate, pulmonary function test variables and AHIREM (p > 0.05). four subjects had nocturnal hypoxia (T90 ≥ 1% of TST) showing lower values of DLCO%, daytime SpO2%, PaO2, FEV1% and a higher value of VR/TLC comparing with the subgroup with normal T90 (p < 0.05). This pilot study shows that sleep alterations could be frequent in LAM and associated to disease severity. Nocturnal hypoxemia and SE were related to lung function impairment. A dysregulation of sleep seems to involve exclusively REM phase, while NREM appears to be preserved. This phenomenon might be linked to the pathophysiology of disease: our study, even with the limits of the small sample size, showed that the presence of REMOSA is related to the disease severity, in particular to the degree of airflow limitation and hyperinflation. More studies are needed to assess this topic.

Colon Sarcoidosis Mimicking Cancer at 18F-FDG PET/CT.

This 68-year-old woman with a 9-year history of skin sarcoidosis presented with abdominal pain, bloating, and diarrhea. Following positive occult fecal blood, a diagnosis of ascending colon sarcoidosis was pathologically confirmed after colonoscopy. FDG PET/CT was performed for sarcoid staging, and the ascending colon demonstrated the only focal site of active sarcoidosis (SUVmax = 10).

Small cell lung cancer transformation and the T790M mutation: A case report of two acquired mechanisms of TKI resistance detected in a tumor rebiopsy and plasma sample of EGFR-mutant lung adenocarcinoma.

The present study describes the case of a 45-year-old man diagnosed with metastatic lung adenocarcinoma, which harbored a deletion within exon 19 of the epidermal growth factor receptor (EGFR) gene. The patient was subsequently treated with gefitinib (250 mg/day orally from May 2013 to March 2014), but developed acquired resistance to the drug following 11 months of treatment. Tumor burden molecular analysis was performed on a tumor rebiopsy and plasma sample, and histological analysis was also performed on the tumor rebiopsy. A small cell transformation retaining the original EGFR mutation was detected in the tumor rebiopsy, while the T790M mutation together with the activating ex19del mutation were identified only in the plasma sample. The patient was treated with cytotoxic chemotherapy (off-label schedule with epirubicin 80 mg/mq and paclitaxel 160 mg/mq every 21 days for 6 cycles) and radiation (50.4 Gy administered in 28 fractions of 1.8 Gy once daily for 5.5 weeks) specific for small cell lung cancer, and may also have benefitted from treatment with a third generation T790M-specific EGFR-TKI. To better describe the mechanisms of resistance to TKI inhibitors and to optimize therapeutic regimens, the simultaneous analysis of tumor biopsies and circulating tumor DNA should be considered.