Sources – Birt-Hogg-Dubé Syndrome

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]Pavlovich et al., 2005. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol, 173 (5), 1482-6 [PMID: 15821464]

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Claessens et al., 2010. Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nat Rev Urol, 7 (10), 583-7 [PMID: 20842188]

Houweling et al., 2011. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer, 105 (12), 1912-9 [PMID: 22146830] [BHD Article Library]

Nakamura et al., 2013. A case of metastatic renal cell carcinoma associated with birt-hogg-dubé syndrome treated with molecular-targeting agents. Hinyokika Kiyo, 59 (8), 503-6 [Article in Japanese] [PMID: 23995526]

Links:

Kidney cysts (Kidney cancer institute website): http://www.kidneycancerinstitute.com/kidney-cyst.html

Kidney cysts

Links:

Kidney cysts (Kidney cancer institute website): http://www.kidneycancerinstitute.com/kidney-cyst.html

Kidney cancer

Pavlovich et al., 2005. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol, 173 (5), 1482-6 [PMID: 15821464]

Benusiglio et al., 20014. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet Journal of Rare Diseases, 9 (1) [DOI: 10.1186/s13023-014-0163-z] [BHD Article Library]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Symptoms of kidney cancer

Kidney cancer symptoms (NHS website): http://www.nhs.uk/Conditions/Cancer-of-the-kidney/Pages/Symptoms.aspx

Diagnosis

Pavlovich et al., 2005. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol, 173 (5), 1482-6 [PMID: 15821464]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]Gatalica et al., 2009

Links:

Kidney cancer stages (CRUK website): http://www.cancerresearchuk.org/about-cancer/type/kidney-cancer/treatment/stages-of-kidney-cancer

Cancer grade (CRUK website): http://www.cancerresearchuk.org/about-cancer/cancers-in-general/what-is-cancer/cells/the-cancer-cell#grade

Treatment overview

Pavlovich et al., 2005. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol, 173 (5), 1482-6 [PMID: 15821464]

Claessens et al., 2010. Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nat Rev Urol, 7 (10), 583-7 [PMID: 20842188]

Links:

Nephrectomy (NHS website): http://www.nhs.uk/Conditions/Cancer-of-the-kidney/Pages/Treatment.aspx#nephrectomy

Kidney cancer prevention (NHS website): http://www.nhs.uk/Conditions/Cancer-of-the-kidney/Pages/Prevention.aspx

Surgical kidney treatment

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]

Eyraud et al., 2013. Robot-assisted transrectal hybrid natural orifice translumenal endoscopic surgery nephrectomy and adrenalectomy: initial investigation in a cadaver model. Urology, 81 (5), 1090-4 [PMID: 23490523]

Laydner et al., 2013. Robotic retroperitoneal transvaginal natural orifice translumenal endoscopic surgery (NOTES) nephrectomy: feasibility study in a cadaver model. Urology, 81 (6), 1232-7 [PMID: 23541230]

Ramanathan & Leveillee, 2010. Ablative therapies for renal tumors. Therapeutic advances in urology, 2 (2), 51-68 [PMID: 21789083]

Goldfarb et al., 1997. Results of renal transplantation in patients with renal cell carcinoma and von Hippel-Lindau disease. Transplantation, 64 (12), 1726-9 [PMID: 9422410]

Links:

Kidney cancer treatment (NHS website): http://www.nhs.uk/Conditions/Cancer-of-the-kidney/Pages/Treatment.aspx

Kidney dialysis (UKGTN report): http://ukgtn.nhs.uk/uploads/tx_ukgtn/BHD_FLCN_GD_Sept_13.pdf

Advanced kidney cancer treatments

Brayer & Fishman, 2014. Regression of metastatic clear cell kidney cancer with interleukin-2 treatment following nivolumab (anti-PD-1) treatment. Journal of immunotherapy (Hagerstown, Md. : 1997), 37 (3), 187-91 [PMID: 24598453]

Carvallo & Childs, 2003. Nonmyeloablative stem cell transplantation as immunotherapy for kidney cancer and other metastatic solid tumors. Cytotechnology, 41 (2-3), 197-206 [PMID: 19002956]

Links:

Targeted therapies for kidney cancer (NHS website): http://www.nhs.uk/Conditions/Cancer-of-the-kidney/Pages/Treatment.aspx#targetedtherapies

Immunotherapy (NHS website): http://www.nhs.uk/Conditions/Cancer-of-the-kidney/Pages/Treatment.aspx#immunotherapy

Chemotherapy for kidney cancer (CRUK website): http://www.cancerresearchuk.org/about-cancer/type/kidney-cancer/treatment/chemotherapy-for-kidney-cancer

Radiotherapy for kidney cancer (CRUK website): http://www.cancerresearchuk.org/about-cancer/type/kidney-cancer/treatment/radiotherapy-for-kidney-cancer

IMA901 vaccine (CRUK website): http://www.cancerresearchuk.org/about-cancer/trials/a-trial-looking-at-ima901-vaccine-and-gmcsf-with-or-without-cyclophosphamide-for-advanced-kidney-cancer

Other causes of hereditary kidney cancer

Shuch et al., 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]

Frantzen et al., 1993. Von Hippel-Lindau Disease. [PMID: 20301636]

Pithukpakorn et al., 2006. Hereditary Leiomyomatosis and Renal Cell Cancer [PMID: 20301430]

Zbar et al., 1995. Hereditary papillary renal cell carcinoma: clinical studies in 10 families. The Journal of urology, 153 (3 Pt 2), 907-12 [PMID: 7853572]

Northrup et al., 1999. Tuberous Sclerosis Complex [PMID: 20301399]

Harris et al., 1993. Polycystic Kidney Disease, Autosomal Dominant. [PMID: 20301424]

Sweeney et al., 1993. Polycystic Kidney Disease, Autosomal Recessive. [PMID: 20301501]

Ricketts et al., 2010. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Human mutation, 31 (1), 41-51 PMID: 19802898

Bonné et al., 2004. Chromosome 3 translocations and familial renal cell cancer. Current molecular medicine, 4 (8), 849-54 [PMID: 15579032]

Linehan, 2009. Genetic basis of bilateral renal cancer: implications for evaluation and management. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 27 (23), 3731-3 [PMID: 19597019]

Zbar et al., 2007. Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development. The Journal of urology, 177 (2) [PMID: 17222609]

Publication date: December 2014
Review date: December 2017