BHD Research Blog

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265 posts · 172,538 views

BHD Research Blog is the official blog of, the primary online resource for anyone interested in Birt-Hogg-Dubé Syndrome, a rare genetic condition linked to benign skin growths, collapsed lung and kidney cancers. In the BHD Research Blog, we focus on analysing current research in BHD and related fields, as well as considering wider issues relating to rare diseases.

Joana Guedes
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  • August 8, 2014
  • 06:54 AM

Doctors should consider germline genetic testing in kidney cancer patients under 46

by Joana Guedes in BHD Research Blog

It is estimated that between 5 and 8% of kidney cancers are hereditary (Linehan et al., 2010). There are several clues that help clinicians diagnose these cases: patients who present with multifocal and/or bilateral tumours; who have a family history … Continue reading →... Read more »

Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, Metwalli AR, Srinivasan R, & Linehan WM. (2014) Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32(5), 431-7. PMID: 24378414  

  • August 1, 2014
  • 07:26 AM

Investing in cancer research pays off

by Joana Guedes in BHD Research Blog

In the UK, a significant amount of medical research funding – an estimated £2.9 billion in 2012/13 – comes from the public purse through taxes and charitable donations, or from the Wellcome Trust, so it is important to see whether … Continue reading →... Read more »

  • July 25, 2014
  • 11:07 AM

BHD causes pneumothoraces during childhood in rare cases

by Joana Guedes in BHD Research Blog

Birt-Hogg-Dubé Syndrome is caused by inactivating mutations in the FLCN gene, characterised by skin lesions on the face and upper body; lung cysts and predisposition to pneumothorax; and kidney cancer. Although symptoms typically appear in the third and fourth decade … Continue reading →... Read more »

Johannesma PC, van den Borne BE, Gille JJ, Nagelkerke AF, van Waesberghe JT, Paul MA, van Moorselaar RJ, Menko FH, & Postmus PE. (2014) Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 171. PMID: 24994497  

  • July 18, 2014
  • 04:00 AM

Intratumoral peripheral small papillary tufts might be a diagnostic clue of BHD

by Joana Guedes in BHD Research Blog

Contrary to other hereditary kidney cancer conditions, BHD-associated renal tumours are known to be histologically diverse and discordant within families, meaning that members of the same family do not necessarily get the same type of kidney tumour (Pavlovich et al., … Continue reading →... Read more »

Kuroda N, Furuya M, Nagashima Y, Gotohda H, Moritani S, Kawakami F, Imamura Y, Bando Y, Takahashi M, Kanayama HO.... (2014) Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome. Annals of diagnostic pathology, 18(3), 171-6. PMID: 24767893  

  • July 11, 2014
  • 05:53 AM

FLCN is important for cardiomyocyte development

by Joana Guedes in BHD Research Blog

Cardiac hypertrophy is an adaptive response that occurs following increased stress on the heart wall, and can be caused by strenuous exercise, hypertension, heart attack or heart valve disease. In some cases, this can lead to heart failure. Although the … Continue reading →... Read more »

Hasumi Y, Baba M, Hasumi H, Huang Y, Lang M, Reindorf R, Oh HB, Sciarretta S, Nagashima K, Haines DC.... (2014) Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation. Human molecular genetics. PMID: 24908670  

  • July 4, 2014
  • 06:10 AM

Public awareness of cancer and federal funding of research in the US is affected by how cancer is reported in the American media

by Joana Guedes in BHD Research Blog

The link between having a good understanding of your health and of disease (health literacy) and health outcomes is well documented (Berkman et al., 2011). However, access to accurate and unbiased information is required for the public to be able … Continue reading →... Read more »

  • June 27, 2014
  • 04:00 AM

FNIP1 is required for iNKT cell maturation

by Joana Guedes in BHD Research Blog

In 2012, two independent studies found that the FLCN-interacting protein FNIP1 is required for proper β-cell maturation, and were the first studies to suggest a role for FLCN and its partners in the immune system. Following their 2012 discovery that … Continue reading →... Read more »

Park H, Tsang M, Iritani BM, & Bevan MJ. (2014) Metabolic regulator Fnip1 is crucial for iNKT lymphocyte development. Proceedings of the National Academy of Sciences of the United States of America, 111(19), 7066-71. PMID: 24785297  

  • June 20, 2014
  • 08:00 AM

Topical Rapamycin might not be an effective treatment for fibrofolliculomas

by Joana Guedes in BHD Research Blog

Last week, the results of a clinical trial testing the effectiveness of topical rapamycin as a treatment for BHD were published in PLOS ONE (Gijezen et al., 2014). The study was performed by Professor Dr Maurice van Steensel’s team at the Maastricht … Continue reading →... Read more »

  • June 13, 2014
  • 05:51 AM

The three Rs of animal research: replacement, refinement, reduction

by Joana Guedes in BHD Research Blog

Following on from last week’s blog discussing animal research, this week’s blog discusses the work of the National Centre for the Replacement, Refinement & Reduction of Animals in Research (NC3Rs). But before discussing how NC3Rs are reducing the numbers of … Continue reading →... Read more »

Huch M, Dorrell C, Boj SF, van Es JH, Li VS, van de Wetering M, Sato T, Hamer K, Sasaki N, Finegold MJ.... (2013) In vitro expansion of single Lgr5 liver stem cells induced by Wnt-driven regeneration. Nature, 494(7436), 247-50. PMID: 23354049  

Huh D, Leslie DC, Matthews BD, Fraser JP, Jurek S, Hamilton GA, Thorneloe KS, McAlexander MA, & Ingber DE. (2012) A human disease model of drug toxicity-induced pulmonary edema in a lung-on-a-chip microdevice. Science translational medicine, 4(159). PMID: 23136042  

  • June 6, 2014
  • 03:30 AM

Understanding Animal Research

by Joana Guedes in BHD Research Blog

A 2012 IPSOS Mori poll showed that although UK public support for the use of animals in medical research was high at 85%, support had fallen slightly from previous years.  Additionally, two thirds of respondents felt they were not well … Continue reading →... Read more »

Hendrickx AG, Axelrod LR, & Clayborn LD. (1966) 'Thalidomide' syndrome in baboons. Nature, 210(5039), 958-9. PMID: 4960026  

Homburger F, Chaube S, Eppenberger M, Bogdonoff PD, & Nixon CW. (1965) Susceptibility of certain inbred strains of hamsters to teratogenic effects of thalidomide. Toxicology and applied pharmacology, 7(5), 686-93. PMID: 5866808  

Smithells RW. (1973) Defects and disabilities of thalidomide children. British medical journal, 1(5848), 269-72. PMID: 4631040  

  • May 30, 2014
  • 06:24 AM

FLCN protects cells from tumorigenic metabolic transformation by directly binding, and thus inhibiting, AMPK

by Joana Guedes in BHD Research Blog

A study recently published in the Journal of Clinical Investigation draws together a number of earlier observations of how FLCN functions: that FLCN binds AMPK via the FNIPs, that loss of FLCN leads to HIF hyperactivity and metabolic transformation, and … Continue reading →... Read more »

Yan M, Gingras MC, Dunlop EA, Nouët Y, Dupuy F, Jalali Z, Possik E, Coull BJ, Kharitidi D, Dydensborg AB.... (2014) The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. The Journal of clinical investigation. PMID: 24762438  

  • May 23, 2014
  • 06:20 AM

Loss of FLCN leads to constitutive AMPK activation, increased autophagy and stress resistance in C. elegans

by Joana Guedes in BHD Research Blog

As discussed on this blog previously, dysregulated autophagy seems to be a common feature of many hereditary kidney cancers. A study from Professor Arnim Pause’s laboratory at McGill University in Canada has shown that the loss of FLCN leads to … Continue reading →... Read more »

Possik E, Jalali Z, Nouët Y, Yan M, Gingras MC, Schmeisser K, Panaite L, Dupuy F, Kharitidi D, Chotard L.... (2014) Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS genetics, 10(4). PMID: 24763318  

  • May 16, 2014
  • 03:40 AM

FLCN is necessary for the survival and function of Type II alveolar epithelial cells

by Joana Guedes in BHD Research Blog

Roughly 90% of BHD patients develop lung cysts, which are thought to also cause spontaneous pneumothorax in 1 in 4 BHD patients (Houweling et al., 2011, Predina et al., 2011). However, although lung cysts are a highly penetrant symptom of … Continue reading →... Read more »

Goncharova EA, Goncharov DA, James ML, Atochina-Vasserman EN, Stepanova V, Hong SB, Li H, Gonzales L, Baba M, Linehan WM.... (2014) Folliculin Controls Lung Alveolar Enlargement and Epithelial Cell Survival through E-Cadherin, LKB1, and AMPK. Cell reports, 7(2), 412-23. PMID: 24726356  

  • May 9, 2014
  • 04:00 AM

Lysosome dysregulation may be a shared feature of some kidney cancers

by Joana Guedes in BHD Research Blog

Lysosomes are enzyme-containing organelles that break down macromolecules in order to recycle their components and maintain cellular homeostasis. Lysosome dysfunction can cause an array of diseases, including Gaucher’s Disease, Niemann Pick Disease and even some cancers (Appelqvist et al., 2013). … Continue reading →... Read more »

  • May 2, 2014
  • 04:00 AM

Evidence of genetic anticipation in HLRCC

by Joana Guedes in BHD Research Blog

Genetic anticipation describes the phenomenon where symptoms appear at an earlier age or are more severe, or both, in subsequent generations of families with a genetic disease. This phenomenon is commonly seen in neurodegenerative diseases (Trottier et al., 1994), and … Continue reading →... Read more »

  • April 25, 2014
  • 04:00 AM

The European Cancer Patient’s Bill of Rights: a catalyst for change

by Joana Guedes in BHD Research Blog

In 28 European countries, cancer is now the leading cause of premature death, having overtaken cardiovascular disease (WHO European health report, 2012), and in 2012 there were 1.75 million cancer-related deaths in Europe (Ferlay et al., 2013). Cancer survival rates … Continue reading →... Read more »

De Angelis R, Sant M, Coleman MP, Francisci S, Baili P, Pierannunzio D, Trama A, Visser O, Brenner H, Ardanaz E.... (2014) Cancer survival in Europe 1999-2007 by country and age: results of EUROCARE--5-a population-based study. The lancet oncology, 15(1), 23-34. PMID: 24314615  

Ferlay J, Steliarova-Foucher E, Lortet-Tieulent J, Rosso S, Coebergh JW, Comber H, Forman D, & Bray F. (2013) Cancer incidence and mortality patterns in Europe: estimates for 40 countries in 2012. European journal of cancer (Oxford, England : 1990), 49(6), 1374-403. PMID: 23485231  

Lawler M, Le Chevalier T, Murphy MJ Jr, Banks I, Conte P, De Lorenzo F, Meunier F, Pinedo HM, Selby P, Armand JP.... (2014) A Catalyst for Change: The European Cancer Patient's Bill of Rights. The oncologist, 19(3), 217-24. PMID: 24493667  

Luce BR, Mauskopf J, Sloan FA, Ostermann J, & Paramore LC. (2006) The return on investment in health care: from 1980 to 2000. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research, 9(3), 146-56. PMID: 16689708  

  • April 18, 2014
  • 04:00 AM

Potential for personalised medicine in kidney cancer

by Joana Guedes in BHD Research Blog

Precision medicine, or personalised medicine, describes the use of therapies that are specifically chosen for the patient based on the molecular characteristics of their disease. It is an emergent field in healthcare, made possible by recent advances in molecular and … Continue reading →... Read more »

Escudier B, Eisen T, Porta C, Patard JJ, Khoo V, Algaba F, Mulders P, Kataja V, & ESMO Guidelines Working Group. (2012) Renal cell carcinoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. PMID: 22997456  

Junker K, Ficarra V, Kwon ED, Leibovich BC, Thompson RH, & Oosterwijk E. (2013) Potential role of genetic markers in the management of kidney cancer. European urology, 63(2), 333-40. PMID: 23040205  

Mountain CF. (2000) The international system for staging lung cancer. Seminars in surgical oncology, 18(2), 106-15. PMID: 10657912  

Serohijos AW, Hegedus T, Aleksandrov AA, He L, Cui L, Dokholyan NV, & Riordan JR. (2008) Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function. Proceedings of the National Academy of Sciences of the United States of America, 105(9), 3256-61. PMID: 18305154  

  • April 11, 2014
  • 04:00 AM

Highlights from the 4th International Kidney Cancer Coalition Conference

by Joana Guedes in BHD Research Blog

In the first week of April, the International Kidney Cancer Coalition (IKCC) held its 4th Expanding Circles conference in Amsterdam. The meeting brought together kidney cancer patient advocates from all over the world to discuss current and future treatments, best … Continue reading →... Read more »

De Angelis R, Sant M, Coleman MP, Francisci S, Baili P, Pierannunzio D, Trama A, Visser O, Brenner H, Ardanaz E.... (2014) Cancer survival in Europe 1999-2007 by country and age: results of EUROCARE--5-a population-based study. The lancet oncology, 15(1), 23-34. PMID: 24314615  

Ko JJ, Choueiri TK, Rini BI, Lee JL, Kroeger N, Srinivas S, Harshman LC, Knox JJ, Bjarnason GA, Mackenzie MJ.... (2014) First-, second-, third-line therapy for mRCC: benchmarks for trial design from the IMDC. British journal of cancer. PMID: 24691425  

  • April 4, 2014
  • 04:00 AM

Why are patient registries important?

by Joana Guedes in BHD Research Blog

How many people have BHD? Who will develop which symptoms, when?  How severe will they be? These are very straightforward questions, but there is not sufficient information to accurately answer them at the moment. This is where patient registries are … Continue reading →... Read more »

  • March 28, 2014
  • 09:00 AM

FLCN may act as a molecular switch

by Joana Guedes in BHD Research Blog

Chromosome translocations involving the transcription factor TFE3, leading to its overexpression, cause roughly 15% of renal cell carcinomas in patients under 45 years of age (Kuroda et al., 2012). TFE3 is constitutively activated in FLCN-null cells (Hong et al., 2010), … Continue reading →... Read more »

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