Individuals with Down syndrome (DS) are at elevated risk for acute leukemia, whereas solid tumors are uncommon, and most types, including breast cancers, have significantly lower-than-expected age-adjusted incidence rates. This article reports on a man with DS and breast cancer, thought to be the first in the literature, and presents the management of his cancer. The literature on malignancies in patients with DS is reviewed and the major epidemiologic studies that have examined the spectrum of cancer risk in individuals with DS are summarized. Potential environmental and genetic determinants of cancer risk are discussed, and the potential role of chromosomal mosaicism in cancer risk among patients with DS is explored. Trisomy of chromosome 21, which causes DS, provides an extra copy of genes with tumor suppressor or repressor functions. Recent studies have leveraged mouse and human genetics to uncover specific candidate genes on chromosome 21 that mediate these effects. In addition, global perturbations in gene expression programs have been observed, with potential effects on proliferation and self-renewal.
Scott V. Bratman, Kathleen C. Horst, Robert W. Carlson and Daniel S. Kapp
Benjamin E. Greer, Wui-Jin Koh, Nadeem Abu-Rustum, Michael A. Bookman, Robert E. Bristow, Susana M. Campos, Kathleen R. Cho, Larry Copeland, Marta Ann Crispens, Patricia J. Eifel, Warner K. Huh, Wainwright Jaggernauth, Daniel S. Kapp, John J. Kavanagh, John R. Lurain III, Mark Morgan, Robert J. Morgan Jr, C. Bethan Powell, Steven W. Remmenga, R. Kevin Reynolds, Angeles Alvarez Secord, William Small Jr and Nelson Teng
Uterine Neoplasms Clinical Practice Guidelines in OncologyNCCN Categories of Evidence and ConsensusCategory 1: The recommendation is based on high-level evidence (e.g., randomized controlled trials) and there is uniform NCCN consensus.Category 2A: The recommendation is based on lowerlevel evidence and there is uniform NCCN consensus.Category 2B: The recommendation is based on lowerlevel evidence and there is nonuniform NCCN consensus (but no major disagreement).Category 3: The recommendation is based on any level of evidence but reflects major disagreement.All recommendations are category 2A unless otherwise noted.Clinical trials: The NCCN believes that the best management for any cancer patient is in a clinical trial. Participation in clinical trials is especially encouraged.OverviewAdenocarcinoma of the endometrium is the most common malignancy in the female genital tract in the United States. An estimated 40,100 new diagnoses of uterine cancer and 7470 deaths from this disease will occur in 2008.1 Uterine sarcomas are uncommon and account for approximately 1 in 12 of all uterine cancers.2 These guidelines describe epithelial carcinomas and uterine sarcomas; each of these major categories contains specific histologic groups that require different management (see page 500).By definition, these guidelines cannot incorporate all possible clinical variations and are not intended to replace good clinical judgment or individualization of treatments. Exceptions to the rule were discussed among panel members during the process of developing these guidelines.For patients with suspected uterine neoplasms, initial preoperative evaluation includes a history and physical examination, endometrial biopsy, chest radiograph, a CBC,...
Benjamin E. Greer, Wui-Jin Koh, Nadeem R. Abu-Rustum, Sachin M. Apte, Susana M. Campos, John Chan, Kathleen R. Cho, Larry Copeland, Marta Ann Crispens, Nefertiti DuPont, Patricia J. Eifel, David K. Gaffney, Warner K. Huh, Daniel S. Kapp, John R. Lurain III, Lainie Martin, Mark A. Morgan, Robert J. Morgan Jr., David Mutch, Steven W. Remmenga, R. Kevin Reynolds, William Small Jr., Nelson Teng and Fidel A. Valea
Overview An estimated 12,200 new cases of cervical cancer will be diagnosed in the United States in 2010, and 4200 people will die of the disease.1 Cervical cancer rates are decreasing among women in the United States, although incidence remains high among Hispanic/Latino, black, and Asian women.2–5 However, cervical cancer is a major world health problem for women. The global yearly incidence of cervical cancer for 2002 was 493,200; the annual death rate was 273,500. It is the third most common cancer in women worldwide,6,7 with 78% of cases occurring in developing countries, where cervical cancer is the second most frequent cause of cancer death in women. Persistent human papillomavirus (HPV) infection is regarded as the most important factor contributing to the development of cervical cancer. A relationship seems to exist between the incidence of cervical cancer and the prevalence of HPV in the population. The prevalence of chronic HPV in countries with a high incidence of cervical cancer is 10% to 20%, whereas its prevalence in low-incidence countries is 5% to 10%.6 Immunization against HPV prevents infection with certain types of HPV and, thus, is expected to prevent specific HPV cancer in women (see NCCN Clinical Practice Guidelines in Oncology [NCCN Guidelines] for Cervical Cancer Screening, in this issue; to view the most recent version of these guidelines, visit the NCCN Web site at www.NCCN.org).8–12 Other epidemiologic risk factors associated with cervical cancer are a history of smoking, parity, contraceptive use, early age at onset of coitus, larger number...