Journal of the neurological sciences · 2025
A novel discovery of elevated risk of neuroendocrine tumors in patients with myotonic dystrophy.
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Hameed Bilal, Ahmadzada Muzzammil, McNeel Timothy S, DiCapua Daniel B, Gadalla Shahinaz M
Аннотация
OBJECTIVE: Cancer risk is higher in patients with myotonic dystrophy (DM) compared to the general population. We aimed to determine the frequency, types and associated risk of cancers in patients with myotonic dystrophy type 1 and type 2 and to evaluate possible associations with cardiovascular phenotypes.
METHODS: We retrospectively studied 211 patients with DM at Yale New Haven Hospital from 1/1/2013 to 5/31/2023 and calculated Standardized Incidence Ratio of cancers by anatomic site comparing DM patients to the general population using Connecticut cancer registry. Novel findings were validated using the SEER-Medicare database.
RESULTS: 167 patients had DM type 1 (DM1), and 44 patients had DM type 2 (DM2). We ascertained 53 cancers in 44 patients (28 of DM1 and 16 of DM2). We observed increased risk of gastrointestinal (GI) neuroendocrine tumors (NETs; N = 4; p < .001) and thyroid cancers (N = 4; p = .05) in patients with DM1 and of hematologic malignancies (N = 9; p = .002) in patients with DM2, compared to the general population. In SEER-Medicare analysis, the odds of NETs versus adenocarcinoma were higher in 69 patients with DM and GI cancer than SEER population with GI cancers (odds ratio, OR = 2.6, p = .007). The length of repeat expansion or presence of cardiovascular phenotype were not associated with the cancer.
CONCLUSION: The noted increased risk of certain cancers in DM1 and DM2 strengthens the likelihood that myotonic dystrophy is a cancer susceptibility syndrome. The association between DM1 and neuroendocrine tumors is novel and calls for assessing GI symptoms in DM patients with a possibility of cancer.
METHODS: We retrospectively studied 211 patients with DM at Yale New Haven Hospital from 1/1/2013 to 5/31/2023 and calculated Standardized Incidence Ratio of cancers by anatomic site comparing DM patients to the general population using Connecticut cancer registry. Novel findings were validated using the SEER-Medicare database.
RESULTS: 167 patients had DM type 1 (DM1), and 44 patients had DM type 2 (DM2). We ascertained 53 cancers in 44 patients (28 of DM1 and 16 of DM2). We observed increased risk of gastrointestinal (GI) neuroendocrine tumors (NETs; N = 4; p < .001) and thyroid cancers (N = 4; p = .05) in patients with DM1 and of hematologic malignancies (N = 9; p = .002) in patients with DM2, compared to the general population. In SEER-Medicare analysis, the odds of NETs versus adenocarcinoma were higher in 69 patients with DM and GI cancer than SEER population with GI cancers (odds ratio, OR = 2.6, p = .007). The length of repeat expansion or presence of cardiovascular phenotype were not associated with the cancer.
CONCLUSION: The noted increased risk of certain cancers in DM1 and DM2 strengthens the likelihood that myotonic dystrophy is a cancer susceptibility syndrome. The association between DM1 and neuroendocrine tumors is novel and calls for assessing GI symptoms in DM patients with a possibility of cancer.