Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the US Food and Drug Administration (FDA) for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.
Mayo Clinic Laboratories is the only laboratory in the world to offer testing for a novel form of autoimmune meningoencephalomyelitis. Known as autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy, the condition was identified by Mayo Clinic in 2016. The GFAP antibody test is offered as part of Mayo Clinic Laboratories’ encephalitis and myelopathy evaluations.
Rondell P. Graham, M.B.B.S., gives an overview of this test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing improves upon previous testing approaches, what clinical action can be taken due to the results of this testing.
Patients with autoimmune myelopathy present with subacute onset and rapid progression of spinal cord symptoms (weakness, gait difficulties, loss of sensation, neuropathic pain, and bowel and bladder dysfunction). Autoimmune myelopathy evaluation of serum and spinal fluid can assist in the diagnosis and aid distinction from other causes of myelopathy (multiple sclerosis, sarcoidosis, and vascular disease). Early diagnosis may assist in diagnosis of occult cancer, prompt initiation of immune therapies, or both.
The standard test for the diagnosis of narcolepsy is the multiple sleep latency test (MSLT). The MSLT is a complex test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy.
The presence NTRK gene fusions is one of the eligibility requirements for the recently FDA-approved therapy Vitrakvi (larotrectinib), a therapy indicated in adult and pediatric patients with solid tumors regardless of the type of tumor. NTRK gene fusions have been described in many cancers at various frequencies including common cancers such as lung, thyroid, and colorectal cancers.
As the world leader in the diagnosis and treatment of gastrointestinal conditions for the last 28 years, we know the importance of laboratory testing in a patient’s care. Visit us at Digestive Disease Week 2019, May 19—21, Booth #2927.
Joseph Yao, M.D., gives an overview of this new test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing improves upon other testing approaches, and what clinical action can be taken due to the results of this testing.
Neuro-oncology is a complex field undergoing rapid changes with the advancement and evolution of sophisticated genetic testing. Evidence continues to grow in support of broad molecular and cytogenetic analysis for patients with brain tumors.
The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.