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Yale Pathology Validates Immunohistochemistry for Quick Assessment of NPM1-Mutated Acute Myeloid Leukemia

August 15, 2023

Members of the Yale Pathology Immunohistochemistry Laboratory are drawing praise for the validation of NPM1 immunohistochemistry of NPM1-mutated Acute Myeloid Leukemia (AML). Knowing the mutational status changes cancer treatment options immediately, particularly with targeted menin inhibitors, a novel class of agents that target the underlying biology of acute leukemias.

Clinical Technologist Samantha St. Clair was singled out for her work, completed under the direction of Dr. Deepika Kumar, MD, Assistant Professor of Pathology, and with guidance from Mina Xu, MD, Associate Professor of Pathology and Director of Hematopathology. In addition, Immunohistochemistry (IHC) Lab Manager Joshua Crane and Joseph Misdraji, MD, Associate Professor of Pathology and Director of the IHC Lab, provided crucial support for this work.

NPM1-mutated acute myeloid leukemia account for 40% of AML. The clone used for this IHC picks up mutated NPM1 only, and has demonstrated specificity of 100% and sensitivity of 80%. Orthogonal molecular testing, which typically results in a few days, is strongly recommended at initial diagnosis and when IHC is negative, according to recent studies.

Dr. Xu said this test will also allow identification of this mutation in myeloid sarcomas that, until now, were sent externally for testing. On initial rollout, Dr. Xu was able to use it to detect residual disease for trial enrollment within six hours.

Oncologists commenting on the initiative said:

“Amazing turnaround.”

“Truly outstanding especially now we have very promising drugs such as menin inhibitors for these NPM1 patients.”

“We are so lucky to have such an amazing and collaborative group.”

Submitted by Terence P. Corcoran on August 15, 2023