Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand.

Aims: To evaluate (a) the diagnostic yield of genetic testing for monogenic diabetes when using single gene and gene panel-based testing approaches in the New Zealand (NZ) population, (b) whether the MODY (Maturity Onset Diabetes of the Young) pre-test probability calculator can be used to guide referrals for testing in NZ, (c) the number of referrals for testing for Māori/Pacific ethnicities compared to NZ European, and (d) the volume of proband vs cascade tests being requested.

Methods: A retrospective audit of 495 referrals, from NZ, for testing of monogenic diabetes genes was performed. Referrals sent to LabPlus (Auckland) laboratory for single gene testing or small multi-gene panel testing, or to the Exeter Genomics Laboratory, UK, for a large gene panel, received from January 2014 - December 2021 were included.

Genomic characterisation of diffuse large B-cell lymphoma.

Diffuse large B-cell lymphoma (DLBCL) is a genomically heterogenous disease comprised of many subtypes that display significantly different clinical outcomes, in the context of treatment with conventional immunochemotherapy. Poor clinical outcomes in some subtypes, and imperfect identification of high risk individuals in otherwise low risk subgroups, demonstrate there is room for improvement in the subclassification and risk stratification of DLBCL. In addition, more comprehensive profiling may lead to improved molecular testing guided treatment selection.

Type 2 diabetes presenting with hyperglycaemic hyperosmolar state in an adolescent renal transplant patient.

Hyperglycaemic hyperosmolar state (HHS) is a life-threatening condition rarely seen in paediatrics. It is becoming increasingly recognised with the growing incidence of childhood type 2 diabetes mellitus (T2DM). We present a 16-year-old boy with Bardet-Biedl syndrome, with comorbidities including chronic renal impairment requiring renal transplant, isolated growth hormone (GH) deficiency and obesity, who presented on routine follow-up with new onset T2DM and in HHS.