A population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy

Abstract

Introduction The risk of cancer in patients diagnosed with myotonic dystrophy (DM) is reported for the homogeneous Utah population. Methods Clinical data accessed from the largest Utah healthcare providers have been record-linked to the Utah Population Database (UPDB), a population-based resource also linked to the Utah Cancer Registry. Relative risks were estimated for 36 cancers of different types in 281 DM patients. Results Testicular cancer (RR=10.74; 95% CI: 1.91, 38.79), endometrial cancer (6.98; 1.24, 25.22), and Non-Hodgkins lymphoma (4.25; 1.16, 12.43) were all observed at significant excess in DM patients. Discussion This study confirms an overall increased risk of cancer in DM. Individuals diagnosed with DM might benefit from risk counseling.

Cancer phenotype in myotonic dystrophy patients: Results from a meta‐analysis

“…(307 DM patients) replicated the elevated risks of thyroid and eye cancer, and suggested a possible testicular cancer risk (SIR = 5.1, P = 0.06) . Two subsequent smaller studies, from France ( n = 109) and the United States ( n = 281), replicated the endometrial cancer finding (both studies), and that of testicular cancer (only the USA study) . The study by Abbott et al .…”

“…Those 4 cancers present a pattern reminiscent of that seen in Lynch syndrome, raising the possibility that an abnormality of DNA mismatch repair may underlie their occurrence. Several subsequent smaller studies validated some, but not all, of the original findings, and suggested the possibility of other affected organs . Inconsistencies between studies regarding specific cancer associations may be due to selection bias in clinic‐based studies, diagnosis misclassification in registry studies, or differences in patient characteristics, such as DM severity or DM subtype.…”

“…The study by Abbott et al . also suggested that DM patients may be at excess risk of non‐Hodgkin lymphoma (SIR = 4.25, 95% CI 1.16–12.43), whereas Mohamed et al . suggested an association with lung cancer (relative risk [RR] = 6, 95% CI 1.2–17.7) .…”

“…Case reports and small case series have suggested that cancer may be part of the DM clinical phenotype . Recently, several epidemiologic studies provided quantitative support for this notion . However, there are interstudy inconsistencies regarding the specific sites of increased cancer involvement.…”

Benign and malignant tumors in the UK myotonic dystrophy patient registry

“…Published case reports have speculated that patients with DM are at increased risk of benign and malignant tumors, most commonly pilomatricoma (a rare benign calcifying cutaneous neoplasm) . Recent large epidemiological studies have provided evidence that patients with DM are at increased risk of cancers of the endometrium, ovary, eye, thyroid, brain, and testes . Excess risk of colon, lung, and, possibly, melanoma and nonmelanoma skin cancers have also been reported .…”