The Comprehensive Center for Fanconi Anemia & The Cytogenetic Facility

Tumor Studies

Patients with Fanconi anemia are at increased risk of developing malignancies such as leukemias and solid tumors. Furthermore, once these malignancies develop, treatment is complicated by the increased sensitivity of Fanconi anemia patients to the side effects of chemotherapy and radiation. We are interested in understanding why malignancies develop in these patients. The goal of our studies is to develop better ways to prevent and treat cancers in Fanconi anemia patients. These studies may also shed light on why such malignancies develop in the general population.

The availability of tumor specimens from Fanconi anemia patients is critical for the advancement of these research studies. Tumor samples removed for clinical purposes can be sent to our laboratory. Tumors will be stored for analysis of genetic mutations that might contribute to cancer development. Tumors cells will also be grown in culture in order to study what regulates their growth and survival.

Specimen Instructions: Tumor samples should be immediately placed in sterile media (RPMI 1640 containing 20% fetal bovine serum) sent at room temperature in an insulated (Styrofoam) container via express mail. The samples cannot be processed without a signed consent. The consent form documents are available by contacting Lisa Moreau at 617.632.5792. Please send us the signed consent form together with the samples.

Prior to sending the samples, please contact Dr. D'Andrea's laboratory at 617.632.6302.