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Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome

MedGen UID:
1653315
•Concept ID:
C4744472
•
Neoplastic Process

Definition

Chromophobe renal cell carcinoma that develops in a patient with Birt-Hogg-Dube syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome

Professional guidelines

PubMed

A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM
Am J Med Genet A 2023 Feb;191(2):490-497. Epub 2022 Dec 13 doi: 10.1002/ajmg.a.63049. PMID: 36513625Free PMC Article
Treatment Strategies for Hereditary Kidney Cancer: Current Recommendations and Updates.
Singh S, Chaurasia A, Gopal N, Malayeri A, Ball MW
Discov Med 2022 Nov-Dec;34(173):205-220. PMID: 36602871
Genetic testing by cancer site: skin.
Gabree M, Seidel M
Cancer J 2012 Jul-Aug;18(4):372-80. doi: 10.1097/PPO.0b013e3182624664. PMID: 22846740

Recent clinical studies

Etiology

PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
Schmidt LS, Vocke CD, Ricketts CJ, Blake Z, Choo KK, Nielsen D, Gautam R, Crooks DR, Reynolds KL, Krolus JL, Bashyal M, Karim B, Cowen EW, Malayeri AA, Merino MJ, Srinivasan R, Ball MW, Zbar B, Marston Linehan W
Urology 2023 Sep;179:58-70. Epub 2023 Jun 16 doi: 10.1016/j.urology.2023.04.035. PMID: 37331486Free PMC Article
Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI
Hematol Oncol Clin North Am 2023 Oct;37(5):841-848. Epub 2023 May 29 doi: 10.1016/j.hoc.2023.04.013. PMID: 37258351
Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.
Geilswijk M, Bendstrup E, Madsen MG, Sommerlund M, Skytte AB
Mol Genet Genomic Med 2018 May;6(3):332-338. Epub 2018 Feb 13 doi: 10.1002/mgg3.373. PMID: 29439288Free PMC Article
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
Schmidt LS, Linehan WM
Nat Rev Urol 2015 Oct;12(10):558-69. Epub 2015 Sep 1 doi: 10.1038/nrurol.2015.206. PMID: 26334087Free PMC Article
Birt-Hogg-Dubé syndrome.
Lencastre A, Ponte P, Apetato M, Nunes L, Lestre S
An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):203-5. doi: 10.1590/abd1806-4841.20132199. PMID: 24346920Free PMC Article

Diagnosis

Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI
Hematol Oncol Clin North Am 2023 Oct;37(5):841-848. Epub 2023 May 29 doi: 10.1016/j.hoc.2023.04.013. PMID: 37258351
Birt-Hogg-Dubé syndrome: Another mTOR phenomenon.
Shah RR, Lambert WC, Schwartz RA
Clin Dermatol 2022 Nov-Dec;40(6):700-705. Epub 2022 Jul 28 doi: 10.1016/j.clindermatol.2022.07.014. PMID: 35907578
Birt-Hogg-Dubé syndrome-associated renal cell carcinoma: Histopathological features and diagnostic conundrum.
Furuya M, Hasumi H, Yao M, Nagashima Y
Cancer Sci 2020 Jan;111(1):15-22. Epub 2019 Dec 17 doi: 10.1111/cas.14255. PMID: 31777168Free PMC Article
Birt-Hogg-Dubé syndrome.
Lencastre A, Ponte P, Apetato M, Nunes L, Lestre S
An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):203-5. doi: 10.1590/abd1806-4841.20132199. PMID: 24346920Free PMC Article
Birt-Hogg-Dubé Syndrome.
Welsch MJ, Krunic A, Medenica MM
Int J Dermatol 2005 Aug;44(8):668-73. doi: 10.1111/j.1365-4632.2004.02095.x. PMID: 16101870

Therapy

A Case of Recurrent Pneumothorax Associated with Birt-Hogg-Dubé Syndrome Treated with Bilateral Simultaneous Surgery and Total Pleural Covering.
Takegahara K, Yoshino N, Usuda J
Ann Thorac Cardiovasc Surg 2017 Dec 20;23(6):309-312. Epub 2017 Jul 10 doi: 10.5761/atcs.cr.16-00295. PMID: 28690286Free PMC Article
Skin manifestations associated with kidney cancer.
Amin A, Burgess EF
Semin Oncol 2016 Jun;43(3):408-12. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.016. PMID: 27178696
Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
Hasumi H, Baba M, Hasumi Y, Furuya M, Yao M
Int J Urol 2016 Mar;23(3):204-10. Epub 2015 Nov 25 doi: 10.1111/iju.13015. PMID: 26608100

Prognosis

PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
Schmidt LS, Vocke CD, Ricketts CJ, Blake Z, Choo KK, Nielsen D, Gautam R, Crooks DR, Reynolds KL, Krolus JL, Bashyal M, Karim B, Cowen EW, Malayeri AA, Merino MJ, Srinivasan R, Ball MW, Zbar B, Marston Linehan W
Urology 2023 Sep;179:58-70. Epub 2023 Jun 16 doi: 10.1016/j.urology.2023.04.035. PMID: 37331486Free PMC Article
Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome.
Johannesma PC, van de Beek I, van der Wel TJWT, Reinhard R, Rozendaal L, Starink TM, van Waesberghe JHTM, Horenblas S, Gille HJJP, Jonker MA, Meijers-Heijboer HEJ, Postmus PE, Houweling AC, van Moorselaar JRA
PLoS One 2019;14(3):e0212952. Epub 2019 Mar 7 doi: 10.1371/journal.pone.0212952. PMID: 30845233Free PMC Article
Genetic predisposition to kidney cancer.
Schmidt LS, Linehan WM
Semin Oncol 2016 Oct;43(5):566-574. Epub 2016 Sep 22 doi: 10.1053/j.seminoncol.2016.09.001. PMID: 27899189Free PMC Article
Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
Hasumi H, Baba M, Hasumi Y, Furuya M, Yao M
Int J Urol 2016 Mar;23(3):204-10. Epub 2015 Nov 25 doi: 10.1111/iju.13015. PMID: 26608100
Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects.
Kuroda N, Furuya M, Nagashima Y, Gotohda H, Kawakami F, Moritani S, Ota S, Hora M, Michal M, Hes O, Nakatani Y
Pol J Pathol 2014 Jun;65(2):93-9. doi: 10.5114/pjp.2014.43958. PMID: 25119168

Clinical prediction guides

PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
Schmidt LS, Vocke CD, Ricketts CJ, Blake Z, Choo KK, Nielsen D, Gautam R, Crooks DR, Reynolds KL, Krolus JL, Bashyal M, Karim B, Cowen EW, Malayeri AA, Merino MJ, Srinivasan R, Ball MW, Zbar B, Marston Linehan W
Urology 2023 Sep;179:58-70. Epub 2023 Jun 16 doi: 10.1016/j.urology.2023.04.035. PMID: 37331486Free PMC Article
Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.
Jikuya R, Johnson TA, Maejima K, An J, Ju YS, Lee H, Ha K, Song W, Kim Y, Okawa Y, Sasagawa S, Kanazashi Y, Fujita M, Imoto S, Mitome T, Ohtake S, Noguchi G, Kawaura S, Iribe Y, Aomori K, Tatenuma T, Komeya M, Ito H, Ito Y, Muraoka K, Furuya M, Kato I, Fujii S, Hamanoue H, Tamura T, Baba M, Suda T, Kodama T, Makiyama K, Yao M, Shuch BM, Ricketts CJ, Schmidt LS, Linehan WM, Nakagawa H, Hasumi H
EBioMedicine 2023 Jun;92:104596. Epub 2023 May 12 doi: 10.1016/j.ebiom.2023.104596. PMID: 37182269Free PMC Article
Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.
Ray A, Chattopadhyay E, Singh R, Ghosh S, Bera A, Sarma M, Munot M, Desai U, Rajan S, Prabhudesai P, Prakash AK, Roy Chowdhury S, Bhowmick N, Dhar R, Udwadia ZF, Dey A, Mitra S, Joshi JM, Maitra A, Roy B
Orphanet J Rare Dis 2022 Apr 27;17(1):176. doi: 10.1186/s13023-022-02326-5. PMID: 35477461Free PMC Article
Skin manifestations associated with kidney cancer.
Amin A, Burgess EF
Semin Oncol 2016 Jun;43(3):408-12. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.016. PMID: 27178696
Birt-Hogg-Dubé syndrome.
Lencastre A, Ponte P, Apetato M, Nunes L, Lestre S
An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):203-5. doi: 10.1590/abd1806-4841.20132199. PMID: 24346920Free PMC Article

Recent systematic reviews

Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.
Carlo MI, Hakimi AA, Stewart GD, Bratslavsky G, Brugarolas J, Chen YB, Linehan WM, Maher ER, Merino MJ, Offit K, Reuter VE, Shuch B, Coleman JA
Eur Urol 2019 Dec;76(6):754-764. Epub 2019 Jul 18 doi: 10.1016/j.eururo.2019.06.015. PMID: 31326218Free PMC Article

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