SUMMARY
Ellen D. McPhail, M.D., studies the diagnosis of amyloidosis and malignant lymphoma. Amyloidosis is a serious condition where irregular protein deposits lead to organ failure. There are 42 recognized different amyloid types. Treatment depends on amyloid type, and treatment plans may vary dramatically. It is essential to determine the correct diagnosis to tailor therapy appropriately. Dr. McPhail's amyloidosis research leverages laser microdissection followed by liquid chromatography with tandem mass spectrometry. This unique clinical test was developed at Mayo Clinic. It precisely identifies all amyloid types in a single assay using shotgun proteomics. This test characterizes the clinicopathologic and proteomic features of amyloidosis.
Malignant lymphomas are cancers that arise from immune system cells called lymphocytes. Like amyloidosis, there are scores of different types of malignant lymphomas, and it is essential to determine the correct diagnosis to tailor therapy appropriately. Dr. McPhail's lymphoma research has focused on the use of ancillary testing, such as cytogenetic and immunohistochemical testing, in diagnosing lymphomas.
Focus areas
- Amyloid typing. One groundbreaking study, which is over 25 times larger than the next largest similar study, documented the relative frequency of 21 different established amyloid types across 31 different organs. This study was based on the analysis of 16,175 amyloidosis samples over an 11-year period. Additional studies described the clinicopathologic and proteomic features of amyloidosis in a variety of individual anatomic sites, including prostate, urinary bladder, tenosynovium, bone marrow, spleen and gastrointestinal tract.
- New amyloid types. Dr. McPhail has written several studies describing new amyloid types, including AEFEMP1, ASom, AGLP1 and AIL1RAP.
- Hereditary amyloidoses. Dr. McPhail has provided crucial contributions to the descriptions of several new hereditary amyloidoses, including AApoCII, AA and ABeta2M.
- Lymphoma diagnostics. Dr. McPhail's research has focused on the clinicopathologic and cytogenetic features of several specific types of lymphomas. These types of lymphomas include MALT lymphoma, mantle cell lymphoma, follicular lymphoma, high-grade B-cell lymphoma with MYC gene, and BCL2 gene rearrangements known as double-hit lymphomas and large B-cell lymphomas with IRF4 gene rearrangements.
Significance to patient care
The amyloid typing technology developed at Mayo Clinic is now considered the gold standard for establishing amyloid type and is more accurate and reproducible than any other modality. It is vitally important to know the correct amyloid type to determine the correct therapy. Use of this modality has revolutionized the diagnosis and treatment of patients with amyloidosis around the world.
An emerging theme of Dr. McPhail's research is the presence of a common, underrecognized but serious amyloid type that can arise in different places in the body. This amyloid type is called ATTR-type amyloidosis. The presence of this insidious ATTR-type amyloidosis often signals whole-body conditions. Dr. McPhail expects that wider access to this information may lead to earlier diagnosis and treatment of this very harmful condition.
The goal of Dr. McPhail's comprehensive studies of lymphoma diagnosis is to find more precise therapeutics and improved outcomes for patients with lymphoma.
Professional highlights
- Associate editor, Amyloid, 2023-present.
- Member, amyloidosis expert panel, College of American Pathologists, 2023-present.
- Associate editor, Human Pathology, 2019-present.
- Chair, Lymphoid Disease-Oriented Group, Mayo Clinic, 2017-present.
- Lab director, Tissue Proteomics Clinical Laboratory, 2017-present.
- Member, Mayo Clinic Team Science Award, Mayo Clinic, 2022.