Deficiencies in germline genetic testing in young-onset colorectal cancer patients.

BACKGROUND: Young-onset colorectal cancer (YO-CRC) patients have high rates of pathologic genetic variants on germline testing, however it is unclear what factors are associated with genetic testing completion. METHODS: We performed a retrospective review of YO-CRC patients aged ≤50 years between 2014 and 2021 who received the entirety of their cancer care at a single institution. The primary outcome was completion of germline multigene panel testing. Variables were examined for association with germline multigene panel testing. RESULTS: Among 100 YO-CRC patients, only 31 â€‹% (n â€‹= â€‹31) completed genetic testing. Testing rates did not differ by colorectal cancer stage but were significantly higher among patients who received chemotherapy (39.8 â€‹% vs 5.9 â€‹%; p â€‹= â€‹0.01) and in patients with increasing number of relatives with a family history of cancer (p â€‹< â€‹0.01). CONCLUSIONS: Only one-third of YO-CRC patients completed genetic testing. Patients seen by oncology or with increasingly strong family cancer history were more likely to complete genetic testing.

Neuroleptic Malignant Syndrome: A Potential Etiology of Multisystem Organ Failure in a Burn Patient.

Neuroleptic malignant syndrome (NMS) is described in the medical literature but rarely seen among acutely ill trauma patients. A 44-year-old man with burns to the hands and back after a chemical explosion was transported to an outside facility where he received treatment for presumed acute coronary syndrome after developing ventricular tachycardia and elevated serum troponins after the exposure. His cardiac catheterization was unremarkable, but an echocardiogram revealed severe cardiomyopathy, and he was also in multisystem organ failure. He was transferred to our facility after hospital day 2 for treatment of his multisystem organ failure and 2% total body surface area burns. His laboratory results were remarkable for a creatine kinase of >100 000 units/L, and he required 14 g of intravenous calcium. Upon further investigation, the patient reported taking ziprasidone for his bipolar disorder, and he had a core temperature of 103.5 °F on his initial presentation to the outside facility. As he convalesced, the unifying diagnosis was NMS. NMS is a side effect of antipsychotic therapy and is manifested by hyperpyrexia, rigidity, autonomic instability, and altered consciousness. An elevated creatine kinase >100 000 units/L is almost pathognomonic for NMS. Patients can also present with leukocytosis, organ failure, and electrolyte disturbances including hypocalcemia. We hypothesized that dehydration, the warm environmental conditions at our patient's job, and immense stress resulting in a catecholamine surge following his trauma were inciting triggers to this event. This case highlights the importance of considering alternate diagnoses in patients whose clinical presentation does not fit the most "obvious cause."