In 2019, the University of Otago LAM research team developed a truly special relationship with one of NZ’s few LAM patients. This relationship culminated in a special meeting at the University of Otago in Dunedin on September 27th, 2019, which fostered collaboration between the University of Otago LAM research team, the LAM patient, the patient’s lead oncologist, and the Director of the New Zealand LAM Trust. In addition to LAM, this patient has had multiple other malignancies including renal angiomyolipoma, a metastatic duodenal adenocarcinoma and multiple hyperplastic polyps. Although LAM patients are known to be susceptible to these malignancies, our Otago LAM research team is now focused on determining whether these malignancies are genetically related to LAM, and if so, are they derived from the same progenitor cell?
To answer this question, we are now performing a unique case study on this LAM patient. No previous genotyping has been performed on this patient, and their oncologist affirmed that genetic information from the varied malignancies will likely be incredibly valuable for treatment decisions that need to be made in the very near future. Therefore, this case presents a rare and exceptionally valuable opportunity to identify the genetic aberrations underlying this patient’s malignancies. Any identified aberrations may reveal new targeted treatment options for this LAM patient, which could have significant implications for their lifespan and overall quality of life. Determining the elusive genetic underpinnings of LAM will also translate to improved health outcomes for the wider LAM community.