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  • May 26, 2017
  • 05:08 AM
  • 45 views

The PI3K/mTOR inhibitor GSK2126458 is effective for treating TSC solid renal tumours

by Joana Guedes in BHD Research Blog

Tuberous sclerosis (TSC) is an inherited tumour syndrome that shares clinical similarities with Birt-Hogg-Dube Syndrome. It is caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR, affecting multiple organs, including the kidney and lung. In the kidney, lesions such as multiple renal cysts and renal cell carcinoma (RCC) can occur. Tumour reduction in TSC patients after treatment with rapamycin, an inhibitor of mTOR, is partial and reversible probably due to feedback activ........ Read more »

  • May 19, 2017
  • 05:13 AM
  • 104 views

Characterization of a FLCN mutation associated with RCC

by Joana Guedes in BHD Research Blog

Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by renal cell carcinoma (RCC), pneumothorax and fibrofolliculomas. In their new study, Bartram et al. (2017) identify a heterozygous mutation in the FLCN gene in a patient with RCC. DNA from tumour and a metastasis was analysed and the authors demonstrated skipping of exon 11 as the consequence of this mutation leading to a shift in the reading frame and the insertion of a premature sto........ Read more »

Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S.... (2017) Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. BMC medical genetics, 18(1), 53. PMID: 28499369  

  • April 7, 2017
  • 06:22 AM
  • 269 views

Novel FLCN mutations in Chinese patients

by Joana Guedes in BHD Research Blog

The gene FLCN is inactivated in individuals with BHD syndrome. The FLCN gene encodes the protein Folliculin, which is a putative tumour suppressor. Over 150 different FLCN mutations have been identified, most of which are likely to be pathogenic (LOVD-hosted FLCN mutation database). The majority of these mutations are frameshift, nonsense, insertion/deletion, or splice site mutations, resulting in truncation and inactivation of the encoded protein folliculin. FLCN consists of 14 exons spanning a........ Read more »

  • March 24, 2017
  • 07:58 AM
  • 240 views

Ammonium regulates mTOR signalling

by Joana Guedes in BHD Research Blog

mTORC1 and mTORC2 are two distinct mammalian TOR (target of rapamycin) complexes that regulate cell growth and metabolism. In cancer, genetic alterations lead to activation of mTOR signalling impacting tumour metabolism. Upregulated glutaminolysis is part of the metabolic reaction occurring in cancer that liberates high levels of ammonium, a toxic waste product. Although the importance of glutamine as a tumour nutrient is recognized, little is known about the potential effects of ammonium produc........ Read more »

  • March 3, 2017
  • 05:14 AM
  • 230 views

Rare Disease Day – Findacure Scientific Conference: Drug Repurposing for Rare Diseases

by Joana Guedes in BHD Research Blog

This year’s Findacure Scientific Conference took place in London on Rare Disease Day and was again focused on Drug Repurposing for Rare Diseases. The conference brought together over 100 representatives from patient groups, researchers and members of the healthcare industry to discuss the importance and the latest developments in drug repurposing for rare diseases.... Read more »

  • February 10, 2017
  • 07:19 AM
  • 332 views

BHD in patients undergoing chest CT and characteristics of BHD in Korea.

by Joana Guedes in BHD Research Blog

To date, there have been no prospective studies attempting to diagnose BHD syndrome or literature reviews on BHD in Korea. Park et al. (2017) address this in their new study that aims to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to classify the characteristics of BHD in Korea.... Read more »

  • January 27, 2017
  • 05:13 AM
  • 565 views

TSC1 expression is affected by VHL alterations and HIF-1α production in clear-cell RCC

by Joana Guedes in BHD Research Blog

VHL genetic alterations do not affect the production of HIF-α in clear-cell renal cell carcinoma (ccRCC). However, their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expression are currently unknown. In a recent study, Damjanovic et al. (2016) evaluated the impact of VHL genetic alterations and HIF-α production on the expression of TSC proteins and Hsp90 in 47 sporadic ccRCCs and corresponding normal tissues.... Read more »

  • January 26, 2017
  • 07:14 AM
  • 152 views

Research evaluates growth patterns of Criollo foals

by SciELO in SciELO in Perspective | Press Releases

Researchers at the Federal University of Pelotas (UFPel) in Pelotas, Rio Grande do Sul, Brazil, tested the methods of measuring growth rates of Criollo foals and showed that body height and chest circumference can be assessed by means of nonlinear models simultaneously in males and females. … Read More →... Read more »

Pimentel, A., Rodrigues, W., Martins, C., Montanez, N., Boligon, A., & Souza, J. (2017) Gender on the growth of Criollo foals from birth to three years of age. Ciência Rural, 47(1). DOI: 10.1590/0103-8478cr20150989  

  • January 20, 2017
  • 05:19 AM
  • 397 views

RCC: Updates on Guidelines for Adjuvant Therapy and new drug combination

by Joana Guedes in BHD Research Blog

The European Association of Urology (EAU) Renal Cell Carcinoma (RCC) guidelines panel has recently updated its recommendation on adjuvant therapy with sunitinib in non-metastatic RCC after surgical tumour removal (Bex et al., 2016). These clinical guidelines provide urologists with evidence-based information and recommendations for the management of RCC and the panel includes urological surgeons, oncologists, pathologists, radiologists and patient advocates. Based on the conflicting results of t........ Read more »

  • January 16, 2017
  • 12:50 PM
  • 421 views

Five things to consider when designing a policy to measure research impact [Originally published in The Conversation]

by SciELO in SciELO in Perspective

The move of the Australian government to measure the impact of university research on society introduces many new challenges that were not previously relevant when evaluation focused solely on academic merit. … Read More →... Read more »

  • January 14, 2017
  • 04:35 AM
  • 478 views

No significant difference in circulating cytokines in autism vs controls?

by Paul Whiteley in Questioning Answers

"As compared with 54 typically developing controls, we found no evidence of differences in the blood profile of immune mediators supportive of active systemic inflammation mechanisms in participants with autism."That was the unexpected research bottom-line published by Carlos Pardo and colleagues [1] (open-access) examining whether various immune-related chemicals - "cytokines, chemokines, or growth factors in serum and cerebrospinal fluid" - might be linked to autism following longitudinal........ Read more »

  • January 13, 2017
  • 05:11 AM
  • 384 views

Nutrient-dependent FNIP degradation regulates FLCN localization and promotes renal cancer progression

by Joana Guedes in BHD Research Blog

Birt-Hogg-Dubé (BHD) syndrome is a rare disorder caused by mutations in FLCN and associated with increased risk of kidney cancer. It has been shown that FLCN-interacting protein 1 and 2 (FNIP1 and FNIP2) double knockout mice, like the FLCN knockout mice, develop renal carcinoma (Hasumi et al., 2015). However, the molecular mechanisms linking FNIP and FLCN remain unknown. In their new study, Nagashima et al. (2016) show that FNIP2 undergoes proteasome-dependent degradation via β-TRCP ........ Read more »

  • January 11, 2017
  • 08:00 AM
  • 495 views

DNA Methylation in the Placenta: accelerated aging in pregnancy complications

by Tina Bianco-Miotto in EpiBeat

The placenta is a unique organ as it is an extra-embryonic tissue primarily regulated by the fetal genome and shared between mother and fetus. However, it is a transient organ that is only needed throughout pregnancy and gestation and then is discarded after delivery. The essential role of the placenta in pregnancy is unquestionable but, surprisingly, as highlighted by the NIH NICHD Human Placenta Project (https://www.nichd.nih.gov/research/HPP/Pages/default.aspx), it is the human organ we know ........ Read more »

Bianco-Miotto T, Mayne BT, Buckberry S, Breen J, Rodriguez Lopez CM, & Roberts CT. (2016) Recent progress towards understanding the role of DNA methylation in human placental development. Reproduction (Cambridge, England), 152(1). PMID: 27026712  

Ehrlich M, Gama-Sosa MA, Huang LH, Midgett RM, Kuo KC, McCune RA, & Gehrke C. (1982) Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells. Nucleic acids research, 10(8), 2709-21. PMID: 7079182  

Fuke C, Shimabukuro M, Petronis A, Sugimoto J, Oda T, Miura K, Miyazaki T, Ogura C, Okazaki Y, & Jinno Y. (2004) Age related changes in 5-methylcytosine content in human peripheral leukocytes and placentas: an HPLC-based study. Annals of human genetics, 68(Pt 3), 196-204. PMID: 15180700  

Schroeder DI, Blair JD, Lott P, Yu HO, Hong D, Crary F, Ashwood P, Walker C, Korf I, Robinson WP.... (2013) The human placenta methylome. Proceedings of the National Academy of Sciences of the United States of America, 110(15), 6037-42. PMID: 23530188  

Robinson WP, & Price EM. (2015) The human placental methylome. Cold Spring Harbor perspectives in medicine, 5(5). PMID: 25722473  

Marioni RE, Shah S, McRae AF, Chen BH, Colicino E, Harris SE, Gibson J, Henders AK, Redmond P, Cox SR.... (2015) DNA methylation age of blood predicts all-cause mortality in later life. Genome biology, 25. PMID: 25633388  

  • January 9, 2017
  • 04:48 AM
  • 363 views

H255Y and K508R missense mutations in FLCN promote kidney neoplasia

by Joana Guedes in BHD Research Blog

The germline FLCN missense mutations H255Y (Hasumi et al., 2009) and K508R (Toro et al., 2008) have been identified in patients with bilateral multifocal (BMF) kidney tumours and other clinical symptoms of Birt-Hogg-Dube (BHD) syndrome, or with BMF kidney tumours as the only manifestation. Building on their previous work identifying the H255Y mutation in human BHD kidney tumour, Hasumi et al. (2016) investigated whether these mutations have an impact on FLCN function. The authors evaluated the F........ Read more »

  • December 30, 2016
  • 07:05 AM
  • 429 views

Annual review 2016

by Joana Guedes in BHD Research Blog

2016 has been a busy year for BHD research. With the new year approaching, this week’s blog will review the studies we’ve particularly enjoyed writing about and revisit the year’s highlights.... Read more »

Gupta, N., Sunwoo, B., & Kotloff, R. (2016) Birt-Hogg-Dubé Syndrome. Clinics in Chest Medicine, 37(3), 475-486. DOI: 10.1016/j.ccm.2016.04.010  

  • December 23, 2016
  • 06:43 AM
  • 468 views

Establishment of a new BHD Syndrome cell line

by Joana Guedes in BHD Research Blog

Birt-Hogg-Dubé syndrome is caused by mutations in the FLCN gene. The FLCN protein acts as a tumour suppressor and BHD patients have a high risk of developing renal cell carcinoma (RCC). The mechanisms of tumour formation in BHD have been investigated using mouse models and human RCC tissues. However, in vitro signalling studies of human renal cells with mutant FLCN are still scarce. In a recent study, Furuya et al. (2016) established a new cell line from a BHD patient’s chromophobe ........ Read more »

  • December 16, 2016
  • 05:25 AM
  • 456 views

Patient participation in clinical trials

by Joana Guedes in BHD Research Blog

Clinical trials are crucial to help doctors and scientists understand how to safely treat a particular condition, to evaluate new treatments and to test drug safety and efficacy. They have an important role in every step of managing a condition with different clinical trials helping with prevention, diagnosis, treatments and follow-up support.... Read more »

  • December 2, 2016
  • 07:48 AM
  • 449 views

Case studies: BHD syndrome associated with pulmonary malformation and with lung neoplasm

by Joana Guedes in BHD Research Blog

Matsutani et al. (2016) reported for the first time BHD syndrome accompanied by pulmonary arteriovenous malformation. The patient, a young male with no significant medical history, presented with chest pain. Chest X-ray and CT revealed emphysematous changes in both lungs and a tumour with pleural fluid. A thoracoscopy revealed dark red pleural fluid and multiple cysts in the lung. The tumour lesion was resected and identified as a non-malignant intrapulmonary hematoma caused by a significant hae........ Read more »

Matsutani, N., Dejima, H., Takahashi, Y., Uehara, H., Iinuma, H., Tanaka, F., & Kawamura, M. (2016) Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. Journal of Thoracic Disease, 8(10). DOI: 10.21037/jtd.2016.09.68  

Gunji-Niitsu, Y., Kumasaka, T., Kitamura, S., Hoshika, Y., Hayashi, T., Tokuda, H., Morita, R., Kobayashi, E., Mitani, K., Kikkawa, M.... (2016) Benign clear cell “sugar” tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report. BMC Medical Genetics, 17(1). DOI: 10.1186/s12881-016-0350-y  

  • November 25, 2016
  • 08:00 PM
  • 520 views

Three mechanisms of dark selection for ruxolitinib resistance

by Artem Kaznatcheev in Evolutionary Games Group

Last week I returned from the 6th annual IMO Workshop at the Moffitt Cancer Center in Tampa, Florida. As I’ve sketched in an earlier post, my team worked on understanding ruxolitinib resistance in chronic myelomonocytic leukemia (CMML). We developed a suite of integrated multi-scale models for uncovering how resistance arises in CMML with no apparent […]... Read more »

Merlevede, J., Droin, N., Qin, T., Meldi, K., Yoshida, K., Morabito, M., Chautard, E., Auboeuf, D., Fenaux, P., Braun, T.... (2016) Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents. Nature Communications, 10767. PMID: 26908133  

  • November 25, 2016
  • 06:40 AM
  • 463 views

FLCN haploinsufficiency leads to lung fibroblast dysfunction in patients with BHD syndrome

by Joana Guedes in BHD Research Blog

Birt–Hogg–Dubé syndrome (BHD) is caused by germline mutations in the FLCN gene and characterized by fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. The stretch hypothesis for pulmonary cyst formation proposes that cysts in BHD arise from defects in cell–cell adhesion, leading to repeated respiration-induced physical stretch-induced stress and, over time, expansion of alveolar spaces particularly in vulnerable regions of lung (Kennedy et al., 20........ Read more »

Hoshika, Y., Takahashi, F., Togo, S., Hashimoto, M., Nara, T., Kobayashi, T., Nurwidya, F., Kataoka, H., Kurihara, M., Kobayashi, E.... (2016) Haploinsufficiency of the gene leads to impaired functions of lung fibroblasts in patients with Birt–Hogg–Dubé syndrome . Physiological Reports, 4(21). DOI: 10.14814/phy2.13025  

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