Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study

Abstract

Background:The neurofibromatoses (NF) are genetic disorders. Increased risks of some cancers in people with NF are well recognised, but there is no comprehensive enumeration of the risks across the whole range of site-specific cancers. Our aim was to provide this.Methods:A linked data set of hospital admissions and deaths in England was used to compare rates of tumours in an NF cohort with rates in a comparison cohort, with results expressed as rate ratios (RR).Results:The RR for all cancers combined, in people with both types of NF combined, was 4.3 (95% confidence interval (CI): 4.0–4.6), based on 769 cases of cancer in 8003 people with NF. Considering only people with presumed NF1 (as defined in the main article), the RR for all cancers excluding nervous system malignancies remained elevated (2.7, 95% CI: 2.4–2.9); and risks were significantly high for cancer of the oesophagus (3.3), stomach (2.8), colon (2.0), liver (3.8), lung (3.0), bone (19.6), thyroid (4.9), malignant melanoma (3.6), non-Hodgkin's lymphoma (3.3), chronic myeloid leukaemia (6.7), female breast (2.3) and ovary (3.7).Conclusion:Neurofibromatosis was associated with an increased risk of many individual cancers. The relationships between NF and cancers may hold clues to mechanisms of carcinogenesis more generally.

Risk of individual malignant neoplasms in patients with sickle cell disease: English national record linkage study

“…This study is part of a broader programme of work on associations between different diseases, 10 including studies of the possibility of altered risk of cancers in people with some genetic disorders. [11][12][13] Methods Hospital Episode Statistics (HES) is the routinely collected all-England administrative dataset that contains a statistical record of every hospital day case and inpatient admission in the NHS in England (population about 53 million). Records of successive admissions for each individual and data from the death registration record, if death occurred, were linked together into a cumulative record of care for each individual from 1999 (when linkable data first became available nationally) to December 2011.…”

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor

“…Patients with NF1 may also be at an increased risk of developing secondary cancers following radiation exposure, and it is important to consider this risk in the treatment of this predisposed population 21 . In addition, patients with NF1 have an increased risk of developing several adult cancers 22 . An analysis of UK death certificates found that patients with NF1 may also be at an increased risk of cancers of the gastrointestinal tract, liver, lung, bone, thyroid, breast and ovary 22 .…”

Male breast cancer with neurofibromatosis- a rare presentation

“…It represents a risk factor for development of various malignancies, including female breast cancer. 8 Association between NF1 and malignant tumors has been widely described, most common reported are with gliomas, malignant peripheral nerve sheath tumors, leukaemia, and rhabdomyosarcoma. Concerning the association between NF1 and breast cancer, only a few cases have been reported.…”