The pattern of cancer occurrence in Turner syndrome

Mette Viuff; Agnethe Berglund; Svend Juul; Kirstine Stochholm; Claus H Gravholt

doi:10.1530/endoabs.63.OC14.5

Background: Studies have shown that the overall risk of cancer is not increased in Turner syndrome (TS). However, the pattern of cancer occurrence may be different than in the background population.

Aim: To describe the cancer morbidity pattern in TS.

Design: Nationwide epidemiological study using Danish registries on morbidity.

Methods: 1,156 Females with TS diagnosed during 1960–2014 were identified using The Danish Cytogenetic Central Registry. Subsequently they were linked with personal-level data from the Danish National Patient Registry. Statistics Denmark randomly identified 115,578 controls matched on sex and age. Stratified Cox regression were used to analyze cancer morbidity, computing proportional hazard ratios (HR).

Results: The overall risk of cancer was not elevated with a HR of 1.04 (Table 1). We observed an increased risk of skin cancer, but not melanoma. In addition, we also observed an increased risk benign skin neoplasms. We also observed a decreased risk of breast cancer, while all remaining cancer types occurred with a frequency equal to that observed in the background population.

Table 1
	All karyotypes
Neoplasm	Cases n (%)	Controls n (%)	HR (95%CI)
All cancers	67	7,876	1.04 (0.80–1.36)
All benign neoplasms	164	16,318	1.09 (0.91–1.30)
Lip, oral cavity and pharynx cancer	3	168	1.69 (0.42–6.84)
Cancer of the digestive tract	13	1,163	1.58 (0.89–2.80)
Cancer of respiratory organs	4	849	0.63 (0.24–1.70)
Bone cancer	0	22	NA
Melanoma of the skin	4	626	0.67 (0.22–2.09)
Skin cancer	12	682	2.23 (1.19–4.17)
Benign skin neoplasm	36	2231	2.03 (1.43–2.90)
Malignant mesothelial neoplasms	1	29	5.51 (0.73-41.44)
Benign mesothelial neoplasm	0	19	NA
Breast cancer	11	2518	0.44 (0.22–0.88)
Female genitalia	13	1299	1.53 (0.88–2.64)
Uterus cancer	7	855	1.25 (0.59–2.64)
Ovarian cancer	4	545	1.08 (0.40–2.89)
Urinary tract cancers	5	253	1.70 (0.54–5.35)
Malignant CNS tumors	2	212	1.12 (0.28–4.52)
Benign CNS tumors	7	455	1.48 (0.55–3.97)
Cancers of endocrine glands	0	139	NA

Conclusion: In this large cohort of females with TS, we confirm that cancer is not seen more frequently, but that the pattern of cancer occurrence is different from what is observed in the general population. The risk of breast cancer is lower than in the general population. Whether this is due to insufficient treatment with female sex hormone replacement therapy or specific characteristics of females with TS remains to be determined.

Endocrine Abstracts

OC14.5