Management of the Case of a Young Female Patient with Multiple Malignancies and Germline R24P CDKN2A Gene Mutation


The case of a young female patient with metachronous primary melanomas, advanced breast and pancreatic cancers is reported. The 5 different tumors diagnosed within six years, were managed with curative intent. Genetic analysis revealed the mutation of the R24P CDKN2A gene in a heterozygote form in both the patient and her father. Careful tertiary prevention during the follow-up of the patient is needed.

Share and Cite:

G. Uhercsák, Á. Dobi, R. Gyulai, J. Oláh, L. Kaizer, K. Ormándi, A. Cserháti, G. Lázár, G. Farkas and Z. Kahán, "Management of the Case of a Young Female Patient with Multiple Malignancies and Germline R24P CDKN2A Gene Mutation," Journal of Cancer Therapy, Vol. 4 No. 7A, 2013, pp. 18-20. doi: 10.4236/jct.2013.47A004.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] C. G. Demandante, D. A. Troyer and T. P. Miles, “Multiple Primary Malignant Neoplasms: Case Report and a Comprehensive Review of the Literature,” American Journal of Clinical Oncology, Vol. 26, No. 1, 2003, pp. 79-83. doi:10.1097/00000421-200302000-00015
[2] A. Irimie, P. Achimas-Cadariu, C. Burz and E. Puscas, “Multiple Primary Malignacies—Epidemiological Analysis at a Single Tertiary Institution,” Journal of Gastrointestinal and Liver Diseases, Vol. 19, No. 1, 2010, pp. 69-73.
[3] R. Agrawal, “Synchronous Dual Malignancy: Successfully Treated Cases,” Journal of Cancer Research and Therapy, Vol. 3, No. 3, 2007, pp. 153-156. doi:10.4103/0973-1482.37408
[4] G. Moertel, “Multiple Primary Malignant Neoplasms: Historical Perspectives,” Cancer, Vol. 40, 1977, pp. 1786-1792. doi:10.1002/1097-0142(197710)40:4+<1786::AID-CNCR2820400803>3.0.CO;2-2
[5] K. Balogh, E. Nemes, G. Uhercsák, Zs. Kahán, Gy. Lázár, Gy. Farkas, H. Polyánka, E. Kiss, R. Gyulai, E. Varga, E. Kereszt-Határvolgyi, L. Kaizer, L. Haracska, L. Tiszlavicz, L. Kemény, J. Oláh and M. Széll, “Melanoma-PreDisposing CDKN2A Mutations in Association with Breast Cancer: A Case-Study and a Meta-Analysis,” In: M. Murph, Ed., Melanoma in the Clinic—Diagnosis, Management and Complications of Malignancy, InTech, Rijeka, 2011, pp. 211-224.
[6] C. Monnerat, A. Chompret, C. Kannengiesser, M. F. Avril, N. Janin, A. Spatz, J. M. Guinebretiere, C. Marian, M. Barrois, F. Boitier, G. M. Lenoir and B. Bressac-de Paillerets, “BRCA1, BRCA2, TP53, and CDKN2A Germline Mutations in Patients with Breast Cancer and Cutaneous Melanoma,” Familial Cancer, Vol. 6, No. 4, 2007, pp. 453-461. doi:10.1007/s10689-007-9143-y
[7] M. Goldstein, “Familial Melanoma, Pancreatic Cancer and Germline CDKN2A Mutations,” Human Mutation, Vol. 23, No. 6, 2004, pp. 630-642. doi:10.1002/humu.9247
[8] M. Goldstein, M. C. Fraser, J. P. Struewing, C. J. Hussussian, K. Ranade, D. P. Zametkin, L. S. Fontaine, S. M. Organic, N. C. Dracopoli and W. H. Clark, “Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds with p16INK4 Mutations,” The New England Journal of Medicine, Vol. 333, No. 15, 1995, pp. 970-974. doi:10.1056/NEJM199510123331504
[9] P. Ghiorzo, G. Fornarini, S. Sciallero, et al., “CDKN2A Is the Main Susceptibility Gene in Italian Pancreatic Cancer Families,” Journal of Medical Genetics, Vol. 49, No. 3, 2012, pp. 164-170. doi:10.1136/jmedgenet-2011-100281
[10] S. Solomon, S. Das, R. Brand and D. C. Whitcomb, “Inherited Pancreatic Cancer Syndromes,” The Cancer Journal, Vol. 18, No. 6, 2012, pp. 485-491. doi:10.1097/PPO.0b013e318278c4a6
[11] J. E. Axilbund and E. A. Wiley, “Genetic Testing by Cancer Site: Pancreas,” The Cancer Journal,, Vol. 18, No. 4, 2012, pp. 350-354. doi:10.1097/PPO.0b013e3182624694
[12] V. Heinemann, D. Quietzsch, F. Gieseler, M. Gonnermann, H. Sch?nek?s, A. Rost, H. Neuhaus, C. Haag, M. Clemens, B. Heinrich, U. Vehling-Kaiser, M. Fuchs, D. Fleckenstein, W. Gesierich, D. Uthgenannt, H. Einsele, A. Holstege, A. Hinke, A. Schalhorn and R. Wilkowski, “Randomized Phase III Trial of Gemcitabine plus Cisplatin Compared with Gemcitabine Alone in Advanced Pancreatic Cancer,” Journal of Clinical Oncology, Vol. 24, No. 24, 2006, pp. 3946-3952. doi:10.1200/JCO.2005.05.1490
[13] H. J. Stemmler, D. diGioia, W. Freier, H. W. Tessen, G. Gitsch, W. Jonat, W. Brugger, E. Kettner, W. Abenhardt, H. Tesch, H. J. Hurtz, S. Rosel, O. Brudler and V. Heinemann, “Randomised Phase II Trial of Gemcitabine plus Vinorelbine vs Gemcitabine plus Cisplatin vs Gemcitabine plus Capecitabine in Patients with Pretreated Metastatic Breast Cancer,” British Journal of Cancer, Vol. 104, No. 7, 2011, pp. 1071-1078. doi:10.1038/bjc.2011.86
[14] L. G. Brito, J. M. de Andrade, T. Lins-Almeida, F. E. Zola, M. N. Pinheiro, H. R. Marana, D. G. Tiezzi and F. M. Peria, “Safety and Efficacy of Gemcitabine plus Cisplatin Combination in Pretreated Metastatic Breast Cancer Patients,” Medical Oncology, Vol. 29, No. 1, 2012, pp. 33-38. doi:10.1007/s12032-010-9793-8
[15] W. M. Rumancik, A. J. Megibow and M. A. Bosniak, “Metastatic Disease to the Pancreas: Evaluation by Computed Tomography,” Journal of Computer Assisted Tomography, Vol. 8, No. 5, 1984, pp. 829-834. doi:10.1097/00004728-198410000-00003
[16] S. Charfi, S. K. Makni, A. Khanfir, K. Abbes, N. Gouiaa, I. Fakhfakh, M. Guermazi, J. Daoud, M. Frikha and T. Sellami-Boudawara, “Breast Metastasis: Anatomoclinical Study of Six Cases,” Journal de Gynécologie Obstétrique et Biologie de la Reproduction (Paris), Vol. 37, No. 4, 2008, pp. 346-352. doi:10.1016/j.jgyn.2008.02.002

Copyright © 2024 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.