A tumor profile in Down syndrome

Abstract

We conducted a review of cancers in Down syndrome (DS), because solid tumors are poorly understood in DS. Cancers are in excess in this condition because of the 20-fold excess of leukemias, whereas malignant solid tumors seem to be globally underrepresented as compared with those in the general population. However, among these tumors, some tumors are in excess: lymphomas, gonadal and extragonadal germ cell tumors, and possibly retinoblastomas and pancreatic and bone tumors. Neoplasms in excess are seen earlier, sometimes in fetal life (leukemias and testicular germ cell tumors) or neonatally (leukemias and lymphoma) and affect mainly male subjects. There seems to exist an excess of rare karyotypes. Other tumors are underrepresented, particularly neuroblastomas and nephroblastomas, in young children, and perhaps common epithelial tumors in adults. These observations suggest that DS has a particular tumor profile, with some tissues more affected by malignant diseases (hematopoietic tissue and germ cells) and others that seem to be protected (central and peripheral nervous system, renal tissue, and epithelial tissues). The mechanism is mainly genetic, but differences in exposure to exogenous agents compared with the general population must be kept in mind. These findings are of interest for the management of these patients and early detection of cancers. Better knowledge of this tumor profile could help us to understand the mechanisms of carcinogenesis and should be compared to the current knowledge of genes on chromosome 21.

Molecular genetic analysis of Down syndrome

“…Individuals with DS also have an increased risk of lymphoma (Satgé et al 1998). Until recently, none of the mouse models of DS had been associated with increased risk of lymphoma.…”

Aspects of Digestive Tract Tumors in Down Syndrome: A Literature Review

“…In fact, solid neoplasms are poorly documented and have not been particularly studied. The important and complex genetic imbalance caused by the supernumerary chromosome 21 [4] leads to differences in leukemias and solid tumors compared to the general population for [5,6]. Many solid tumors are less frequent in persons with DS, particularly cerebral and embryonal tumors in children and carcinomas in adults.…”

“…The latter are mainly of the ear, nose, and throat region, the respiratory tract, the urinary tract, the skin, and the breast. On the other hand, lymphomas and germ cell tumors are overrepresented [5,6]. Some digestive tract neoplasms are not easily detected in the general population.…”

The incidence of cancer in people with intellectual disabilities

“…There are some specific conditions in which the risk of both cancer and ID are high. For example, persons with Down syndrome have an increased risk of leukaemia and testicular cancer [9][10][11]; WAGR syndrome (Wilm's tumour, aniridia, genitourinary abnormalities and retardation) is typified by both cancer and ID [12]; tuberous sclerosis is associated with brain tumours and renal cell carcinomas [13]; neurofibromatosis is characterised by multiple cutaneous tumours and tumours of the peripheral and central nervous system which may metastasise [14]; and ataxia telangiectasia may cause ID and is associated with increased risk of cancer, particularly of the lymphoid system [15]. Furthermore, tumours of the brain (both malignant and benign) can cause ID.…”