Rinze Reinhard

Prevalence of Birt–Hogg–Dubé syndrome in patients with apparently primary spontaneous pneumothorax

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]. Birt–Hogg–Dubé syndrome is probably the cause of pneumothorax in 5–10% of primary spontaneous pneumothorax patients http://ow.ly/FiIGS

Whole-body-MR imaging including DWIBS in the work-up of patients with head and neck squamous cell carcinoma: A feasibility study

OBJECTIVES To assess the feasibility of whole-body magnetic resonance imaging (WB-MRI) including diffusion-weighted whole-body imaging with background-body-signal-suppression (DWIBS) for the evaluation of distant malignancies in head and neck squamous cell carcinoma (HNSCC); and to compare WB-MRI findings with (18)F-fluorodeoxyglucose positron emission tomography/computed tomography ((18)F-FDG-PET/CT) and chest-CT. METHODS Thirty-three patients with high risk for metastatic spread (26 males; range 48-79 years, mean age 63 ± 7.9 years (mean ± standard deviation) years) were prospectively included with a follow-up of six months. WB-MRI protocol included short-TI inversion recovery and T1-weighted sequences in the coronal plane and half-fourier acquisition single-shot turbo spin-echo T2 and contrast-enhanced-T1-weighted sequences in the axial plane. Axial DWIBS was reformatted in the coronal plane. Interobserver variability was assessed using weighted kappa and the proportion specific agreement (PA). RESULTS Two second primary tumors and one metastasis were detected on WB-MRI. WB-MRI yielded seven clinically indeterminate lesions which did not progress at follow-up. The metastasis and one second primary tumor were found when combining (18)F-FDG-PET/CT and chest-CT findings. Interobserver variability for WB-MRI was κ=0.91 with PA ranging from 0.82 to 1.00. For (18)F-FDG-PET/CT κ could not be calculated due to a constant variable in the table and PA ranged from 0.40 to 0.99. CONCLUSIONS Our WB-MRI protocol with DWIBS is feasible in the work-up of HNSCC patients for detection and characterization of distant pathology. WB-MRI can be complementary to (18)F-FDG-PET/CT, especially in the detection of non (18)F-FDG avid second primary tumors.

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Birt–Hogg–Dubé syndrome (BHD) is an autosomal dominant condition due to germline FLCN (folliculin) mutations, characterized by skin fibrofolliculomas, lung cysts, pneumothorax and renal cancer. We identified a de novoFLCN mutation, c.499C>T (p.Gln167X), in a patient who presented with spontaneous pneumothorax. Subsequently, typical skin features and asymptomatic renal cancer were diagnosed. Probably, de novo FLCN mutations are rare. However, they may be under-diagnosed if BHD is not considered in sporadic patients who present with one or more of the syndromic features. Genetic and immunohistochemical analysis of the renal tumour indicated features compatible with a tumour suppressor role of FLCN. The finding that mutant FLCN was expressed in the tumour might indicate residual functionality of mutant FLCN, a notion which will be explored in future studies.

Differences in patterns of survival in metastatic adenoid cystic carcinoma of the head and neck

We examined the assumption in conventional teaching about metastatic adenoid cystic carcinoma (ACC) being an indolent type of disease.

750OEARLY DETECTION OF HEREDITARY RENAL CELL CANCER BY IMPROVED EVALUATION OF SPONTANEOUS PNEUMOTHORAX PATIENTS

ABSTRACT Aim: Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition due to germline mutations in the folliculin (FLCN) gene, clinically characterized by skin fibrofolliculomas, lung cysts, (recurrent) spontaneous pneumothorax (SP) and an increased risk of renal cell cancer (RCC). Families with BHD are most often identified through recognition of fibrofolliculomas A less common way to identify a BHD family is through (recurrent) SP. The characteristic pulmonary cystsare generally not visible on standard chest X-ray, and therefore will be missed in the standard – according to British Thoracic Society guidelines - diagnostic work-up for SP cases. We hypothesize that supplementing the diagnostic work-up of SP patients with CT imaging will result in the identification of BHD patients presenting with SP. This provides the opportunity of the identification of (asymptomatic) RCC at an early stage by screening of identified FLCN mutation carriers. Methods: We retrospectively collected clinical and radiological data of 55 families, including 200 BHD patients with a proven pathogenic FLCN mutation. Our database started in 2004; the mean follow-up time of mutation carriers is 5 years (1-10 years). Results: Sixty patients in 33 families had (recurrent) SP. In 14 out of 30 families we detected one or more patients with RCC. In total 19 patients had a history of RCC, 7 of them had a history of (recurrent) SP and 15 patients had a positive familial history for SP. We found in 14 cases RCC at an early stage, 5 patients died due metastases. Histological diagnosis were mainly (a combination of) clear cell carcinoma and chromophobe carcinoma. Conclusions: Based on these results, we suggest that including (low dose) thoracic CT in the standard SP work up should result in the identification of BHD families. In these families annual screening for RCC should be offered to affected relatives, which was shown to result in early detection of BHD associated RCC. We show that a limited period of observation of these families has resulted in detection of 14 patients with RCC at an early stage. Disclosure: All authors have declared no conflicts of interest.

44 Soorten beeldvormend onderzoek

Radiologie is het medisch specialisme dat zich bezighoudt met beeldvormende diagnostiek en beeldgestuurde minimaal invasieve percutane behandelingen (interventieradiologie). Hiervoor zijn diverse soorten onderzoek beschikbaar, waarvan conventioneel rontgenonderzoek, echografie, CT (computertomografie), MRI (magnetic resonance imaging) en DSA (digitale subtractie-angiografie) de belangrijkste zijn. Skeletscintigrafie is een onderzoek dat wordt uitgevoerd op de afdeling Nucleaire Geneeskunde en zal daarom niet hier worden behandeld. PET-CT wordt wel behandeld aangezien dit een belangrijk onderzoek is binnen de oncologie en omdat het een samenwerking is tussen de afdelingen Radiologie en Nucleaire Geneeskunde.

45 Orgaangericht beeldvormend onderzoek

Radiologie is het medisch specialisme dat zich bezighoudt met alle facetten van diagnostiek door middel van gebruik van diverse beeldvormende technieken. Welke beeldvormende techniek het onderzoek van eerste keuze is, hangt met name af van de vraagstelling. Maar ook leeftijd, voorgeschiedenis en de klinische toestand van de patient spelen hierbij een rol. Het komt verder regelmatig voor dat verschillende soorten onderzoek worden gebruikt om een vraagstelling te beantwoorden.