Aims: To study 19 cases of primary thymic carcinoma in order to define the clinicopathological features and the precise histochemical profile of this rare and heterogeneous group of tumours of the anterior mediastinum. Methods and results: The study group consisted of 13 males and six females, with a mean age of 58.5 years (range 29–75 years). Superior vena cava syndrome and chest pain were the main presenting symptoms. Three patients were asymptomatic. No patient had myasthenia gravis. Six different histological types were identified: neuroendocrine tumours (six patients), epidermoid carcinoma (five patients), sarcomatoid carcinoma (three patients), lymphoepithelioma‐like carcinoma (two patients), mucoepidermoid carcinoma, clear cell carcinoma, and undifferentiated carcinoma (one patient each). The clear cell carcinoma was associated with a thymic cyst. No association with thymoma was observed. Surgical resection, performed in 10 cases, was complete in two. Sixteen patients received thoracic radiation, and 11 received systemic chemotherapy. Follow‐up information was available in 16 cases; 12 patients presented with local or metastatic relapse, and 10 patients died of their tumour. The overall 5‐year survival was 14.5%. Conclusion: Primary thymic carcinoma is a very heterogeneous group of tumours of the anterior mediastinum with an aggressive clinical behaviour, and a poor overall prognosis.
Lymphangioleiomyomatosis (LAM), a slowly progressive disease affecting mostly young and middle-aged females [1], is one of the few orphan lung diseases that has attracted major attention in recent years from both clinicians and researchers [2], with rapidly evolving progress. With an estimated prevalence of one in 400,000 adult females aged 20–69 yrs for the sporadic form [3] and ∼30% of patients with tuberous sclerosis complex [4] (tuberous sclerosis complex itself has a prevalence of one in 5,800 live births [5]), LAM is indeed a rare disease according to the European definition (prevalence was less than one out of 2,000 persons). However, similar to what has been witnessed for idiopathic pulmonary hypertension some years ago, the organisation and care of LAM patients has improved considerably. Reference centres have been established in many countries for the care of patients suffering from rare diseases, either for rare pulmonary diseases as a whole including LAM, or specifically for LAM (LAM clinics). One initiative funded by the 7th Framework Programme of the European Commission is in the progression to establish European networks of centres of expertise (coordinator: T.O.F. Wagner, Frankfurt, Germany; LAM coordinator: S.J. Johnson, Nottingham, UK). Furthermore, basic and translational research has made tremendous progress, and some medical therapy may be envisioned in the near future. Hence the hope is forming that LAM may no longer be orphan in the coming years; the sooner the better.
Since the first reports of LAM in 1937 and the first comprehensive descriptions of LAM patients in 1974 to 1975 [6, 7], our understanding of the disease has dramatically improved (table 1). Further progress in disease description has been obtained from retrospective series of patients [9–13] and from registries [16 …
Introduction. Pulmonary arterial hypertension (PAH) is a major cause of mortality in SSc. NT-proBNP may be a useful biomarker of prevalent PAH but its role in screening for incident PAH has not been evaluated. Methods. Patients recruited into the Australian Scleroderma Cohort Study undergo annual echocardiography, pulmonary function tests (PFTs), 6-min walk test (6MWT) and have serum NT-proBNP measured (ElecsysproBNP II). The diagnosis of PAH is based on Dana point criteria at right heart catheterization (RHC). Patients with LV dysfunction or eGFR <30 ml/min were excluded from this study. Four clinical groups were selected. Group 1 (n = 20) had definite PAH with pre-treatment sera assayed. Group 2 (n = 30) were considered ‘at risk’ for PAH based on (i) sPAP on echo >36 mmHg, (ii) FVC/DLCO% >1.6 and no significant ILD, (iii) DLCO <50% or (iv) resting mPAP of 20–25 mmHg at RHC. Group 3 (n = 19) had interstitial lung disease (ILD) but no evidence of PAH on echo or RHC. Group 4 (n = 31) were SSc patients without cardiopulmonary disease. Analysis of variance with two-group comparisons were used to determine differences in clinical characteristics and NT-proBNP level among groups. Simple and multiple linear regression were used to determine correlates of NT-proBNP. ROC curve analysis was performed to determine the optimal NT-proBNP threshold for detection of PAH. NT-proBNP level according to group. NT-proBNP level according to group. Conclusions. Our findings suggest that in absence of LV dysfunction, NT-proBNP is a useful screening biomarker for PAH in SSc, with levels >189.2 pg/ml and <82.9 pg/ml defining patients with a high and low likelihood of PAH, respectively. Further prospective studies are required in unselected patients in order to confirm these findings.
