Lizzie Perdeaux

169 posts · 58,371 views

BHD Research Blog
169 posts

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  • October 24, 2014
  • 03:00 AM
  • 28 views

Somatic mutations in FLCN can cause cancer

by Lizzie Perdeaux in BHD Research Blog

The majority of research on FLCN is within the context of BHD syndrome, which is caused by heterozygous germline mutations in the FLCN gene. However, two recent papers have reported that somatic FLCN mutations may be a factor in the … Continue reading →... Read more »

Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ.... (2014) Response and acquired resistance to everolimus in anaplastic thyroid cancer. The New England journal of medicine, 371(15), 1426-33. PMID: 25295501  

  • October 17, 2014
  • 03:00 AM
  • 71 views

BHD lung cysts are not degenerative, but may cause pneumothorax

by Lizzie Perdeaux in BHD Research Blog

Although 90% of BHD patients develop lung cysts, there is very little information about the natural history of BHD lung cysts. In order to determine how lung cysts change over time, Johannesma et al. (2014a) compared the results of two … Continue reading →... Read more »

Johannesma PC, Houweling AC, van Waesberghe JH, van Moorselaar RJ, Starink TM, Menko FH, & Postmus PE. (2014) The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19(8), 1248-50. PMID: 25302759  

  • October 10, 2014
  • 03:00 AM
  • 77 views

The Amsterdam Patient Charter for Global Kidney Cancer Care

by Lizzie Perdeaux in BHD Research Blog

Kidney cancer patients face a number of challenges, such as lack of awareness both by patients and their doctors, difficulty getting a diagnosis, limited access to treatment, inappropriate treatment, lack of information and lack of support. Given that there were … Continue reading →... Read more »

Giles RH, Maskens D, & the International Kidney Cancer Coalition. (2014) Amsterdam Patient Charter for Global Kidney Cancer Care. European urology. PMID: 25257033  

  • October 3, 2014
  • 05:17 AM
  • 89 views

Routine screening of lung resections taken during surgery for pneumothorax may help identify unrecognised cases of BHD

by Lizzie Perdeaux in BHD Research Blog

In many cases, early diagnosis means treatments are more effective, cost less and save more lives. Screening programmes aid early diagnosis and can be used to screen whole populations, such as the fetal anomaly screening given to all pregnant women … Continue reading →... Read more »

  • September 26, 2014
  • 02:53 AM
  • 128 views

Telomere shortening may cause genetic anticipation in VHL syndrome

by Lizzie Perdeaux in BHD Research Blog

Genetic anticipation describes the situation where younger generations of a family with a genetic disease develop symptoms at a younger age, develop more severe symptoms, or both. A study earlier this year showed that there is evidence of genetic anticipation … Continue reading →... Read more »

  • September 19, 2014
  • 05:06 AM
  • 140 views

Air travel may cause pneumothorax in BHD patients

by Lizzie Perdeaux in BHD Research Blog

One concern many BHD patients have is whether it is safe to take commercial flights, or whether this would increase the chances of a pneumothorax. A recently published study, by Professor Pieter Postmus and his team at the VU Medical … Continue reading →... Read more »

Postmus PE, Johannesma PC, Menko FH, & Paul MA. (2014) In-Flight Pneumothorax: Diagnosis May Be Missed because of Symptom Delay. American journal of respiratory and critical care medicine, 190(6), 704-5. PMID: 25221882  

  • September 12, 2014
  • 04:38 AM
  • 127 views

Survivorship is an increasingly important component of cancer care

by Lizzie Perdeaux in BHD Research Blog

A cancer survivor is defined as anyone who is living with cancer, or whose cancer has gone into remission. Traditionally cancer care has concentrated on diagnosing and treating the disease, and comparatively little support has been given to patients once … Continue reading →... Read more »

  • September 5, 2014
  • 04:49 AM
  • 112 views

FLCN modulates autophagy via its interactions with GABARAP and ULK1

by Lizzie Perdeaux in BHD Research Blog

A number of studies have suggested that FLCN regulates autophagy, although precisely how was unknown. A recent study by Dr Elaine Dunlop and Dr Andy Tee from Cardiff University report that FLCN regulates autophagy through interactions with GABARAP and ULK1. … Continue reading →... Read more »

Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, Kemp AJ, Nookala RK, Blenis J, Coull BJ.... (2014) FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10(10). PMID: 25126726  

  • August 29, 2014
  • 09:09 AM
  • 115 views

Folliculin function is highly cell-specific

by Lizzie Perdeaux in BHD Research Blog

Whilst trying to elucidate the role of FLCN, a number of studies have reported opposing results. FLCN has been shown to both activate and inhibit mTOR signalling, AMPK signalling and RhoA signalling and to both potentiate and abrogate cell-cell adhesion. … Continue reading →... Read more »

Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ.... (2014) Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2(8). PMID: 25121506  

  • August 15, 2014
  • 02:00 AM
  • 80 views

Guidelines for HLRCC kidney cancer risk, surveillance and treatment published

by Lizzie Perdeaux in BHD Research Blog

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare kidney cancer susceptibility syndrome caused by autosomal dominant mutations in the FH gene. The three main symptoms of HLRCC are red skin papules called cutaneous piloleiomyomas; multiple early-onset uterine leiomyomas; … Continue reading →... Read more »

  • August 8, 2014
  • 05:54 AM
  • 124 views

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

by Lizzie Perdeaux 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
  • 06:26 AM
  • 213 views

Investing in cancer research pays off

by Lizzie Perdeaux 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
  • 10:07 AM
  • 204 views

BHD causes pneumothoraces during childhood in rare cases

by Lizzie Perdeaux 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
  • 03:00 AM
  • 76 views

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

by Lizzie Perdeaux 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
  • 04:53 AM
  • 159 views

FLCN is important for cardiomyocyte development

by Lizzie Perdeaux 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
  • 05:10 AM
  • 218 views

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

by Lizzie Perdeaux 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
  • 03:00 AM
  • 303 views

FNIP1 is required for iNKT cell maturation

by Lizzie Perdeaux 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
  • 07:00 AM
  • 122 views

Topical Rapamycin might not be an effective treatment for fibrofolliculomas

by Lizzie Perdeaux 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
  • 04:51 AM
  • 238 views

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

by Lizzie Perdeaux 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
  • 02:30 AM
  • 208 views

Understanding Animal Research

by Lizzie Perdeaux 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  

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