Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.
Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting in greater cumulative years of life lost. Improved understanding of the underpinnings of the genetic pathways underlying these syndromes and the rapid evolution of targeted therapies in general have made it possible to develop therapeutic options for these patients and other genetic cancer syndromes. Targeted therapies especially antiangiogenics and inhibitors of the PIK3CA/AKT/mTOR signaling pathway have shown activity in selected group of patients affected by these syndromes or in patients harboring specific sporadic mutations which are otherwise characteristic of these syndromes. Unfortunately due to the rare nature, patients with these syndromes are not the focus of clinical trials and unique results seen in these patients can easily go unnoticed. Most of the data suggesting benefits of targeted therapies are either case reports or small case series. Thus, a literature review was indicated. In this review we explore the use of molecularly targeted therapy options in Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.
Department of Medicine Division of Hematology/Oncology, University of Cincinnati, Cincinnati, OH 45267, USA.
Rishi
R
Agarwal
UT Health, University of Texas - Houston, Houston, TX 77030, USA.
Sarah
S
Liebe
CollabRx Inc., San Francisco, CA 94104, USA.
Michelle L
ML
Turski
CollabRx Inc., San Francisco, CA 94104, USA.
Smruti J
SJ
Vidwans
Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Filip
F
Janku
Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Ignacio
I
Garrido-Laguna
Banner MD Anderson Cancer Center, Gilbert, AZ 85234, USA.
Javier
J
Munoz
Center for Personalized Cancer Therapy, Moores Cancer Center, University of California, San Diego, CA 92093, USA.
Richard
R
Schwab
Vall d'Hebron Institut d'Oncologia and Universitat Autonoma of Barcelona, Barcelona, 08035, Spain.
Jordi
J
Rodon
Center for Personalized Cancer Therapy, Moores Cancer Center, University of California, San Diego, CA 92093, USA.
Razelle
R
Kurzrock
Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Vivek
V
Subbiah
D006223:Hamartoma Syndrome, Multiple / Q000628:therapy*; D006801:Humans; D058990:Molecular Targeted Therapy; D009369:Neoplasms / Q000235:genetics* / Q000628:therapy*; D016715:Proteus Syndrome / Q000628:therapy*; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000628:therapy*