Hereditary Cancer Syndromes in Children

In this age of advanced molecular testing and discovery, the importance of identifying and understanding hereditary cancer syndromes is greater than ever. Patients of any age may develop a malignancy that can be linked to a genetic syndrome that was first described decades before or just months ago. These determinations impact not just the patient, but also his or her family members, as patients may be at risk of developing cancer themselves or for passing on disease risk to their children.

Thankfully, neoplasms are relatively infrequent in children, most likely because they have not spent the decades accumulating environmental risk factors that adults typically have. Therefore, it is unsurprising that pediatric malignancies can more often be traced to a congenital cause. This special journal issue covers some of the most common, or at least most famous, heritable cancer syndromes that result in pediatric malignancies: familial adenomatous polyposis, Li–Fraumeni syndrome, the multiple endocrine neoplasia syndromes, the neurofibromatosis syndromes, and von Hippel–Lindau disease. Two relatively new and interesting syndromes are discussed as well: rhabdoid tumor predisposition syndrome and pleuropulmonary blastoma syndrome. Additionally, there is an organ-based overview of pediatric tumors that can arise in the setting of a hereditary syndrome, offering this issue breadth as well as depth.

The articles in this issue are written from a surgical pathology perspective, with an emphasis on histologic findings and accompanying photomicrographs. The history and molecular findings relevant to each syndrome will be given proper attention as well. While patient treatment will receive relatively little focus, we can unreservedly recommend consultation with a medical geneticist for any patient with a confirmed or suspected cancer syndrome.

Humanity's knowledge of molecular genetics continues to expand at a rapid rate, and some of the information in these pages may become outdated sooner than anyone can imagine. Still, we hope these articles are of assistance to pediatricians, surgeons, and pathologists caring for young patients with hereditary cancer syndromes.