European BHD Consortium (EBC) – Third Meeting

19th December 2008

Location: Naturalia et Biologia, Paris, France

Present: Stéphane Richard (host) (Hôpital de Bicêtre et Institut de Cancérologie Gustave Roussy

Tijs Claessens (Maastricht University)

Lennart Friis-Hansen (University of Copenhagen)

Sophie Gad (Institut de Cancerologie Gustave Roussy)

Sophie Giraud (Hôpital Edouard Herriot, Lyon)

Eamonn Maher (Birmingham University)

Fred Menko (VU University)

Martijn Ploeger (VU University)

Maurice van Steensel (Maastricht University)

Sherry Weppler (Maastricht University)

John Solly (Myrovlytis Trust)

Apologies: Thomas van Overeem Hansen (University of Copenhagen)

Date: 19th December 2008

Location: Naturalia et Biologia, Paris, France

Welcome by Stéphane Richard and a brief introduction by all attendees

1. Treatment/Diagnosis guidelines (led by Fred Menko)


Summary of guidelines discussion at the Symposium at Roskilde. This included a discussion of at what age to start, how and how often, to carry out renal surveillance. The idea of publishing European BHD Consortium guidelines as ‘expert recommendations’ rather than ‘evidence-based recommendations’ was discussed. This paper could be followed by a second one presenting combined European BHD patient data.

2. Familial trichodiscomas (led by Fred Menko)


Discussion of whether familial ‘trichodiscomas’ is necessarily BHD syndrome and whether fibrofolliculomas in childhood is automatically not BHD. For example, there are families in the Netherlands with no identified FLCN mutation: biopsies and functional studies would give insight as to whether the same pathways are involved here and in BHD syndrome.

3. Kidney tumours for research


The EBC should organise collection and distribution of kidney samples for research within the Consortium. Stéphane Richard already has a collaboration with Bin-Teh that involves sharing tissue. Important to identify how to:

a) Collect renal tumours in BHD patients and FLCN mutation carriers;

b) Describe clinical data and pathology;

c) Describe/analyse clinical case/therapy/outcome;


d) Treat metastasized BHD associated chromophobe renal cancer.

4. Talk from Professor Jean-Michel Corréas on radiofrequency ablation (RFA) of kidney tumours.


Renal tumours are found more often and at a smaller size (6-8mm) than previously. Indicators for RFA include a renal cancer plus:

a) One functioning kidney or renal failure or

b) Solid renal tumour (<4 cm in diameter) or

c) Hereditary cancer (e.g. BHD)

Previously, the approach was to find a tumour, wait until it grew to 3cm, then cut it out: now: RFA at 2cm gives 98% success cf. only 85% success at 3cm.

RFA involves two days in hospital and occurs under conscious sedation with local anesthetic. Contrast-enhanced ultrasound is used in real-time and guides positioning of the electrodes. Placement is controlled using non-enhanced CT. Post-procedure, contrast-enhance CT is used (this is the ‘reference technique’) but repeated exposure to ionization can be an issue because most patients are young. Up to seven repetitions of RFA have been done on the same –kidney

Its effectiveness depends on the tumour position. It seems to be more effective with hereditary tumours. In France, two BHD patients have been treated with RFA to date. BHD tumours are a good target because low tumour vascularisation is not an issue and susceptibility to pneumothorax is not a contra-indication. RFA is also used in several other European countries, including the UK, Germany, Italy and Spain, as well as in five centres in France. It is widely used for liver tumours.

5. Patient Data


Overview of Dutch BHD patient data (Martijn Ploeger). There are 43 families: 35 have BHD and 8 have no mutation. Of those 8, 3 have other diagnoses and 5 have insufficient data.

The Consortium patient database needs adjustment then will be opened up for more centres to enter data. Each member of the Consortium can publish his/her own data separately from the EBC. Eamonn Maher suggested two databases: a patient database and a mutation database: the succinate dehydrogenase database is a great format. John Solly: the Myrovlytis Trust is happy to host the database – e.g. on the EBC website.

6. Resources:

Sophie Gad: It would be very useful to have other cell lines available.

7. E-Rare


MvS suggested that the EU ‘E-Rare’ call might be appropriate for BHD. Everyone agreed that it was worth applying for funding.

8. Next meeting


Perhaps in six months – maybe in the UK (Birmingham/London)? Consider expanding it to include research – i.e. not purely clinical.

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