Therapeutic challenges in treating patients with fragile X syndrome and neoplasia

Abstract

The administration of cytotoxic therapy to patients with fragile X syndrome (FXS) presents several unique therapeutic challenges. The existence of fragile sites poses a theoretical risk of tumorigenesis and potentially increased treatment associated toxicity, however, controversy exists. We review the 42 previously reported cases of neoplasia in patients with FXS and report two novel neoplasms in patients treated with radiation therapy or combined chemoradiation. Our experience suggests that radiation therapy can be delivered safely in these patients without an expectation for increased acute/sub-acute normal tissue toxicity; however, treatment requires specialized facilities with the resources to deliver this care safely.

Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review

“…In a recent report by Paulino and colleagues, 42 cases of neoplasia in patients with FXS were reviewed and three describe the use of RT [Farach et al, 2013]. Review of each primary source reveals no commentary on RT toxicity [Ferrari et al, 2000Rodewald et al, 2005Garre et al, 2009].…”

Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature Survey

“…Some reports on the diagnosis and treatment of malignant neoplasm in FXS have been published. A recent survey presented 40 cases (115). Another study describes an increased risk for the development of lip cancer in FXS (43).…”

“…Therapy and prognosis of FXS patients do not seem to differ from that of a normal population. Bone tumors are extremely rare in FXS patients developing cancer (115). The individual reports of an increased risk of breast cancer in patients with FXS (44) [or FD (92)] suggest that the patient should be advised to undergo regular gynecological examinations at an early age.…”

Breast cancer and screening in persons with an intellectual disability living in institutions in France

“…However, the frequency of BC is not homogeneous, since certain genetic conditions associated with ID are associated with an increased risk of BC, such as Cowden syndrome (Brownstein et al 1978), neurofibromatosis 1 (Sharif et al 2007) or Saethre-Chotzen syndrome (Sahlin et al 2007), whereas other conditions are associated with a decreased risk of BC, e.g. Down syndrome (Satgé et al 2001) or Fragile X syndrome (Farach et al 2013).…”