Hospital Clinic Barcelona, IDIBAPS


Our institution

Hospital Clinic Barcelona
Villarroel 170
08036 Barcelona

Our group

Department of Dermatology
Melanoma Unit
Hospital Clinic Barcelona, IDIBAPS
Villarroel 170
08036 Barcelona

Genetics Service (Laboratory)
Hospital Clinic Barcelona, IDIBAPS
Villarroel 170
08036 Barcelona

The name, address and contact e-mail, tel of the group leader

Dr. Susana Puig, MD. PhD
Department of Dermatology
Hospital Clinic Barcelona, IDIBAPS
Villarroel 170
08036 Barcelona

Phone: +34 93 227 54 00 ext 2422
Fax: +34 93 227 54 38

The Melanoma Unit research program of the Dept. of Dermatology includes three main lines of research: 1. Genetic susceptibility to malignant melanoma and nevogenicity. Somatic genetics of melanoma and nevus development; 2. Immunotherapy and new therapies for melanoma 3. Dermoscopy, new diagnosis and prognosis techniques.

1. The melanoma group has focused particularly on the genetic aspects of the Familial Atypical Multiple Mole-Melanoma syndrome. FAMMM is an excellent example of a multi-factorial disorder in which gene-gene and gene-environment interactions play a crucial role. Our studies on a large collection of families with the FAMMM syndrome have demonstrated that 20% of the families had a mutation in the cell cycle regulator gene CDKN2A. 18% of patients with multiple primary melanomas in our setting are also carriers of CDKN2A mutations. In contrast, the incidence of mutations in sporadic melanomas is very low (1-2%). We have furthermore evaluated variants of the melanocortin 1 receptor (MC1R) gene as a modifier of melanoma risk. In addition, the role of UV light, DNA repair capacity, type of skin and degree of pigmentation in relation to melanoma risk is being investigated. Other genodermatosis and multifactorial cutaneous diseases are also investigated.

2. Our research in melanoma therapy is mainly focused on investigating new therapeutic strategies such as whole attenuated cell vaccines or autologous dendritic cell vaccines. Immunological assays are being performed to investigate host response to these vaccines and clinical trials are being developed to evaluate clinical responses. Furthermore, several therapeutic protocols of chemotherapy, biochemotherapy and/or radiotherapy are being conducted to investigate new treatment strategies.

3. Dermoscopy is a non-invasive technique focused on the diagnosis of pigmented tumors. The accuracy of melanoma diagnosis improves with the use of this technique. Special surveillance programs including total body photography and digital dermoscopy follow-up are being developed for the early diagnosis of melanoma in melanoma kindreds and in individuals with high risk to develop melanoma. Exhaustive analysis of false-negative and false-positive melanomas (by naked eye and dermoscopy), morphological description of non-melanocytic cutaneous tumors and the application of dermoscopy in non-tumoral diseases are also being investigated.

Melanoma research

In the melanoma group, lead by Professor Newton Bishop, we have studied high penetrance genes from families with multiple cases of melanoma. To investigate lower penetrance genes and the interaction between genes and the environment, we are currently recruiting a large cohort of melanoma patients, their families and matched population controls. We have also been studying patients who have relapsed with melanoma and will compare them to controls who have not relapsed in order to look at factors associated with prognosis.

Related Links

Institut de Recerca Biomèdica August Pi i Suñer (IDIBAPS)

Hospital Clínic de Barcelona

The names and e-mail addresses of the group members

Principal researchers

Susana Puig, MD. PhD

Josep Malvehy, MD

Genetics service

Montserrat Mila

Celia Badenas


Paula Aguilera

Cristina Carrera

Francisco Cuellar (Latin America coordinator)

Zighe Ogbah

Joan-Anton Puig-Butille

Pedro Zaballos


Remedios Cervera

Research nurse / Data Managers

Pablo Iglesias

Dani Gabriel

Psychologist/Genetic Counselling

Melinda Gonzlez


A Ruiz, S Puig, J Malvehy, C Lazaro, M Lynch, A.M. Gimenez-Arnau, Ll Puig, J Sanchez-Conejo, X Estivill, T Castel.

“CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia”

J Med Genet 36; 490-494 (1999)

Ruiz A, Nadal M, Puig S, Estivill X.
“Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region”
Gene 239: 155-161 (1999)

S Puig, J Castro, PJ Ventura, C Ascaso, J Malvehy, X Estivill, A Vilalta, M Lecha, T Castel.
“Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases”
Melanoma Research; 10: 231-236 (2000)

Moral A, Lafuente MJ, Lafuente A, Castel T, Balesta AM, Lecha M; Trias M, The MMM Group.
The Use Erytrocyte Glutathione as a predictive marker for malignant melanoma.
Anticancer Research 20: 4757-4760 (2000)

Rizos H*, Puig S*, Badenas C, Malvehy J, Darmanian AP, Jiménez L, Milà M, Kefford RF.
A melanoma-associated germline mutation in exon 1ß inactivates p14ARF.
Oncogene 20: 5543-7 (2001)

C Ferrandiz, Bordas X, García-Patos V, Puig S, Pujol R, Smandia A.
Prevalence of Psoriasis in Spain.
EJAD 15: 20-23 (2001)

E Serra, E Ars, A Ravella, A Sanchez, S Puig, T Rosenbaum, X Estivill, C Lazaro.
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.
Human Genet 108: 416-429 (2001)

Asumalahti K, Veal C, Laitinen T, Suomela S, Allen M, Elomaa O, Moser M, de Cid R, Ripatti S, Vorechovsky I, Marcusson JA, Nakagawa H, Lazaro C, Estivill X, Capon F, Novelli G, The psoriasis consortium, et al.
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus.
Hum Mol Genet 2002; 11: 589-597.

Kefford R, Bishop JN, Tucker M, Bressac-de Paillerets B, Bianchi-Scarra G, Bergman W, Goldstein A, Puig S, Mackie R, Elder D, Hansson J, Hayward N, Hogg D, Olsson H.
Genetic testing for melanoma.
Lancet Oncol (2002) 3:653-654

Malvehy J, Puig S.
“Follow up of melanocytic skin lesions with digital dermoscopy”.
Clin Dermatol (2002) 20:297-304

Vidal-Sicart S, Pons F, Puig S, Ortega M, Vilalta A, Martín F, Rull R, Palou J, Castel T.
Identification of the sentinel lymph node in patients with malignant melanoma: what are the reasons for mistakes?
Eur J Nucl Med Mol Imaging 2003; 30(3):362-6

Vilella R, Benitez D, Mila J, Vilalta A, Rull R, Cuellar F, Conill C, Vidal-Sicart S, Costa J, Yachi E, Palou J, Malvehy J, Puig S, Martí R, Mellado B, Castel T.
Treatment of patients with progressive unresectable metastatic melanoma with a heterologous polyvalent melanoma whole cell vaccine.
Int J Cancer 2003 Sep 10; 106(4):626-31.

Argenziano G, Soyer HP, Chimenti S, Malvehy J, Puig S et al.
Dermoscopy of pigmented skin lesions. Results of a Consensus Meeting via Internet.
J Am Acad Dermatol (2003) 48: 679-93

Yakobson E, Eisenberg S, Isacson R, Halle D, Levy-Lahad E, Catane R, Safro M, Sobolev V, Huot T, Peters G, Ruiz A, Malvehy J, Puig S, Chompret A, Avril MF, Shafir R, Peretz H, Paillerets BB. Eur J
A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.
Hum Genet. 2003 Apr;11(4):288

Zalaudek I, Argenziano G, Ferrara G, Soyer HP, Corona R, Sera F, Cerroni L, Carbone A, Chiominto A, Cicale L, De Rosa G, Ferrari A, Hoffmann-Wellenhof R, Malvehy J, Peris K, Pizzichetta MA, Puig S, Scaqlvenzi M, Staibano S and Ruocco V.
Clinically equivocal melanocytic skin lesions with features of regression: a dermoscopic-pathologycal study.
Br J Dermatol (2004) 150: 64-71

Malvehy J, Puig S.
Dermoscopic Patterns of benign volar melanocytic lesions in patients with atypical mole syndrome.
Arch Dermatol (2004) 140: 538-44

Conill C, González-Cao M, Jorcano S, Puig S, Malvehy J, Martí R and Castel T.
Temozolomide as profilaxis of melanoma brain metastases.
Mel Res 2004: 14; 73-4

R. Vilella, D. Benítez, J. Milà, M. Lozano, R. Vilana, J. Pomes, X. Tomas, J. Costa, A. Vilalta, J. Malvehy, S. Puig, B. Mellado, R. Martí and T. Castel.
Pilot study of treatment of biochemotherapy-refractory stage IV melanoma patients with autologous dendritic cells pulsed with a heterologous melanoma cell line lysate.
Cancer immunology immunotherapy 2004; 53: 651-8

Zalaudek I, Argenziano G, Leinweber B, Luigi Citarella,3 MD; Rainer Hofmann-Wellenhof,1 MD; Josep Malvehy,4 MD; Susana Puig,4 MD; Maria Antonietta Pizzichetta,5 MD; Luc Thomas,6 MD; H. Peter Soyer,1 MD; H. Kerl,1 MD
Dermoscopy OF Bowen´s disease.
Br J Dermatol 2004; 150: 64-71

Gonzalez Cao M, Puig S, Mellado B.
Survivin expression in sentinel lymp nodes from melanoma patients.
J Clin Oncol 2004; 22: 2751-2

Vidal-Sicart S, Pons F, Fuertes S, Vilalta A, Rull R, Puig S, Palou J, Ortega M, Castel T.
Is the identification of in transit sentinel lymph nodes in malignant melanoma patients really necessary?
Eur J Nucl Med Mol Imaging 2004; 31: 945-9

Best 5 publications: 1, 3, 5, 12, 16.