Hematology

David Murray, M.D., Ph.D., explains how Mayo Clinic Laboratories' MASS-FIX Quantitation assay provides next-generation screening for M-proteins, which are associated with multiple myeloma and other diseases. The assay better quantitates the blood proteins, for improved patient care and simpler test ordering.

On the brink of losing her battle with acute myeloid leukemia, Shannon Camlek arrived at Mayo Clinic as a last hope. Her chances didn’t look good, but with the help of specialized genetic testing, particularly FISH (fluorescence in situ hybridization) studies, doctors were able to detect the specific gene mutations responsible for her symptoms and disease. The test results also helped Shannon’s care team target her treatment accordingly, and finally put an end to what Shannon likens as starring in her own personal horror movie while in search of hope and healing.

One summer morning, James Kypuros awoke to find his toes stiffened like claws. Then he started having falls, which culminated in losing his ability to walk or even sit up without help. Diagnosed with stiff-person syndrome, James wouldn’t find hope or relief until he was treated for glycine receptor antibody syndrome following specialized testing by Mayo Clinic.

Lisa Rimsza, M.D., explains how Mayo Clinic Laboratories' unique PM3CX test can accurately determine subtypes of large B-cell lymphoma. Precise diagnosis is critical to choosing appropriate chemotherapy.

Mayo Clinic Laboratories is excited to participate in the 65th ASH Annual Meeting & Exposition, which will take place in San Diego on Dec. 9–12, 2023.

In this month's "Hot Topic," Patricia Greipp, D.O., discusses fluorescence in situ hybridization, or FISH testing, particularly related to pediatric patients with hematologic malignancies.

In a recent discovery by Mayo Clinic Laboratories, a novel hemoglobinopathy category was identified and termed epsilon gamma thalassemia. The first instance of the disorder was found in 2017 when an obstetric patient underwent a routine screening for blood-related illnesses such as sickle cell disease and thalassemia. Upon completion of additional tests, doctors found an abnormality they had never seen before.

PACE / State of FL
In this month's "Virtual Lecture," Anand Padmanabhan provides a general overview and science in the field related to heparin-induced thrombocytopenia (HIT), vaccine-induced thrombotic thrombocytopenia (VITT), and monoclonal gammopathy of thrombotic significance (MGTS), and focuses on impacts related to diagnosis for anti-platelet factor 4-mediated thrombotic syndromes.

This conference will provide reviews and updates about the laboratory and clinical aspects of bleeding and thrombosing disorders. Informational presentations will be supplemented with panel discussions and case presentations, followed by time for participant questions.

This conference will provide a comprehensive approach to the evaluation of frequently encountered blood count abnormalities, along with an update on the diagnosis and management of common and rare nonmalignant blood disorders. The conference will also illustrate the practical application of testing algorithms derived from the Mayo Clinic practice, showing how unnecessary, redundant, and costly laboratory tests can be eliminated while maintaining the highest quality medical care.

PACE / State of FL
This month’s “Virtual Lecture” discusses the clinical diagnosis and management, summarizes the testing modalities that guide diagnosis and management, and recognizes the utility of genetic testing as it relates to complement testing in diagnosing and managing thrombotic microangiopathy.

VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome — somatic mutations in the UBA1 gene of blood cells — was discovered at the National Institutes of Health (NIH) in 2020. Within six months, Mayo Clinic Laboratories was able to add a UBA1 test to the MayoComplete panel, as the team simultaneously worked on a single gene assay to allow doctors to test specifically for UBA1 mutations to screen patients for VEXAS syndrome. The team opted for a droplet digital PCR test — a novel and highly accurate approach to testing for UBA1 gene mutations.

Get ready for the 18th Bleeding and Thrombosing Diseases conference! This conference will provide reviews and updates about the laboratory and clinical aspects of bleeding and thrombosing disorders. It will take place Oct. 4–6, 2023, in Rochester, Minnesota.