Multiple desmoplastic melanomas in Birt-Hogg-Dubé syndrome and a proposed signaling link between folliculin, the mTOR pathway, and melanoma susceptibility

Archives of Dermatology

Volumn 146, Issue 11, 2010, Pages 1316-1318

  Cocciolone, Raymond A ^a   Crotty, Kerry A ^a   Andrews, Lesley ^a   Haass, Nikolas K ^a,b,c   Moloney, Fergal J ^a,c  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^b CENTENARY INSTITUTE   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRONE; MAMMALIAN TARGET OF RAPAMYCIN;

ADULT; ARTICLE; BIRT HOGG DUBE SYNDROME; CASE REPORT; CERVICAL LYMPH NODE; DISEASE PREDISPOSITION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LYMPH NODE METASTASIS; LYMPHADENECTOMY; MALE; MELANOMA; MULTIPLE DESMOPLASTIC MELANOMA; PRIORITY JOURNAL;

BIRT-HOGG-DUBE SYNDROME; ESTRONE; HUMANS; MALE; MELANOMA; MIDDLE AGED; MUTATION; NEOPLASM RECURRENCE, LOCAL; SIGNAL TRANSDUCTION; SKIN NEOPLASMS; TOR SERINE-THREONINE KINASES;

EID: 78349260874     PISSN: 0003987X     EISSN: 15383652     Source Type: Journal    
DOI: 10.1001/archdermatol.2010.333     Document Type: Article

References (6)

1. Leter EM, Koopmans AK, Gille JJ, et al. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. J Invest Dermatol. 2008;128(1):45-49.
2. Toro JR, Wei MH, Glenn GM, et al. 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. 2008;45(6):321-331.
3. Baba M, Furihata M, Hong SB, et al. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst. 2008;100(2):140-154.
4. Karbowniczek M, Spittle CS, Morrison T, Wu H, Henske EP. mTOR is activated in the majority of malignant melanomas. J Invest Dermatol. 2008;128(4):980-987.
5. Welsch MJ, Krunic A, Medenica MM. Birt-Hogg-Dubé Syndrome. Int J Dermatol. 2005;44(8):668-673.
6. Meier F, Guenova E, Clasen S, et al. Significant response after treatment with the mTOR inhibitor sirolimus in combination with carboplatin and paclitaxel in metastatic melanoma patients. J Am Acad Dermatol. 2009;60(5):863-868.