RESUMO
BACKGROUND: Universal mismatch repair immunohistochemistry (MMR IHC) tumour testing in endometrial cancer (EC) for Lynch syndrome (LS) was introduced in Auckland, New Zealand, in January 2017. Identifying patients with LS allows them and their families to access risk reduction strategies. Universal MMR IHC testing aids in the molecular classification of EC and has prognostic and therapeutic implications. AIM: We aimed to determine the incidence of LS in women with EC in Auckland, New Zealand, following the introduction of MMR testing and the impact of universal screening on local genetic services. MATERIALS AND METHODS: This is a retrospective clinicopathological evaluation of women with a new EC diagnosis referred to the Auckland Gynaecological Oncology Unit from 1/1/17 to 31/12/18. Patient data were extracted from the Gynaecological Oncology Unit database and electronic records, and analysed using descriptive statistics. RESULTS: During the study period, 409 patients were diagnosed with EC, with an over-representation of Pacific Islanders (32.5%). Of these, 82.6% underwent MMR IHC testing, 20% were MMR-deficient (MMRd), and 71% had somatic hypermethylation. The Pacific Islander population had a 64% (odds ratio 0.36, P = 0.005) reduction in the odds of having MMRd tumours compared with Europeans. Of the patients who underwent MMR IHC testing, 5.5% were referred to a genetic clinic for germline testing. LS was confirmed in eight patients (2.3%). CONCLUSION: LS was diagnosed in 2.3% of patients. There was an over-representation of Pacific Islanders in the EC group but not among those diagnosed with LS.
RESUMO
AIM: High and low gestational weight gain (GWG) adversely affects perinatal outcomes, and impacts long-term maternal and child health. Our aim is to report i) GWG categories by 2009 Institute of Medicine guidelines in the multi-ethnic population in Counties Manukau Health, ii) demographic factors and iii) adverse perinatal outcomes associated with high and low GWG. METHOD: Women with singleton pregnancy and weight recorded at ≤20 weeks and again in the third trimester comprised the study population. GWG categories (weight gain per week) were defined as low, normal or high. Maternal characteristics and pregnancy outcomes were compared between GWG categories. RESULTS: Study population comprised 604 women: 39.7% Pacific, 19.9% Maori, 21.5% European. 70.5% were overweight or obese, and 65.1% lived in the highest deprivation decile areas. 70.7% had high, 16.1% had normal and 13.2% had low GWG. Pacific [OR 3.58 (95% CI 1.82, 7.03)] had increased odds of high GWG and Para 2/3+ had reduced odds of high GWG [OR 0.50 (95% CI 0.26, 0.99), OR 0.36 (95% CI 0.17, 0.74) respectively]. Low GWG was associated with increased SGA [ OR 2.48 (95% CI 1.11, 6.44)] and with GDM [OR 2.74 (95%CI 1.06, 8.79)]. We demonstrated a linear association between GWG and birthweight with 126g (95% CI: 90g, 162g) increase per 250g increase in weekly GWG. CONCLUSION: The majority of participants had high GWG, which is clinically relevant as this was associated with increased infant weight, with potential to perpetuate intergenerational obesity. The association between low GWG and GDM may reflect care in the GDM clinic.