Pneumothorax is classified "spontaneous pneumothorax" if there is no external force causing it and is classified as "primary spontaneous pneumothorax" (PSP) if there is no underlying lung disease. ...According to the guidelines of the British Thoracic Society (BTS), "no underlying lung disease" is based on history, physical examination and chest radiography 1.
Abstract
Background
Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the
FLCN
gene. One of the characteristics is the increased risk for spontaneous ...pneumothorax, likely due to the presence of pulmonary cysts mainly distributed under the carina. Due to variable expression and lack of awareness, BHD is likely to be underdiagnosed
.
We aimed to examine the prevalence of BHD in patients presenting with an apparent primary spontaneous pneumothorax and to evaluate the contribution of chest CT in establishing the diagnosis.
Methods
Patients who presented with apparent primary spontaneous pneumothorax between 2004 and 2017 in a large Dutch teaching hospital were enrolled in this quantitative cross-sectional study. A questionnaire was sent to eligible patients. Patients who completed the questionnaire and consented to further participation were invited to visit the hospital for genetic testing and low dose, volumetric chest CT.
Results
Genetic testing was performed in 88 patients with apparent primary spontaneous pneumothorax. Three patients were found to have a pathogenic variant in the
FLCN
gene (3.4%). No variants of unknown significance were detected. Pulmonary cysts were detected in 14 out of 83 participants with an available chest CT, six had more than one cyst. All three patients with BHD had multiple pulmonary cysts.
Conclusions
Based on previous literature and the present study, we believe that performing a chest CT in every patient presenting with primary spontaneous pneumothorax is justified. Subsequent genetic testing of the FLCN gene should be considered when multiple pulmonary cysts are present.
Trial registration
The study was registered at clinicaltrials.gov with reference NCT02916992.
Summary at a glance
Three out of 88 patients with an apparent primary spontaneous pneumothorax were diagnosed with Birt-Hogg-Dubé syndrome in this study and all three had multiple pulmonary cysts. We believe that performing a chest CT in every patient with an apparent primary spontaneous pneumothorax is justified to identify underlying diseases.
Objectives
Core biopsy underestimates invasion in more than 20% of patients with preoperatively diagnosed ductal carcinoma in situ (DCIS) without evidence of invasion (pure DCIS). The aim of the ...current study was to evaluate the efficacy of preoperative magnetic resonance imaging (MRI) to discriminate between patients with DCIS who are at high risk of invasive breast cancer and patients at low risk.
Methods
One hundred and twenty-five patients, preoperatively diagnosed with pure DCIS (128 lesions; 3 bilateral) by core-needle biopsy, were prospectively included. Clinical, mammographic, histological (core biopsy) and MRI features were assessed. All patients underwent breast surgery. Analyses were performed to identify features associated with presence of invasion.
Results
Eighteen lesions (14.1%) showed invasion on final histology. Seventy-three lesions (57%) showed suspicious enhancement on MRI with a type 1 (
n
= 12, 16.4%), type 2 (
n
= 19, 26.0%) or type 3 curve, respectively (
n
= 42, 57.5%). At multivariate analysis, the most predictive features for excluding presence of invasive disease were absence of enhancement or a type 1 curve on MRI (negative predictive value 98.5%; A
Z
0.80,
P
= 0.00006).
Conclusion
Contrast medium uptake kinetics at MRI provide high negative predictive value to exclude presence of invasion and may be useful in primary surgical planning in patients with a preoperative diagnosis of pure DCIS.
Key Points
•
It is important to determine invasion in breast DCIS.
•
MRI contrast medium uptake kinetics can help exclude the presence of invasion
.
•
However, the positive predictive value for the presence of invasion is limited
.
•
MRI features were more accurate at predicting invasion than mammographic features alone
.
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