Original ArticlesFLT3 Mutations in Myeloproliferative Neoplasms The Beaumont ExperienceWilliams, Lindsay MD*; Kelley, Harlan H. MD†; Meng, Xiuling MT (ASCP)‡; Prada, Anne MB(ASCP)CM*; Crisan, Domnita MD, PhD* Author Information *Department of Clinical Pathology, William Beaumont Health System, Royal Oak, MI †Northern Navajo Medical Center, Shiprock, NM ‡University of Massachusetts Memorial Hospital, Worcester, MA Funding for this project was provided in part by a resident research minigrant from the William Beaumont Health System Research Institute, Grant # RI-12-05 (L.W.). This work was performed independently of the funding source. The authors declare no conflict of interest. Reprints: Lindsay Williams, MD, Department of Anatomic and Clinical Pathology, William Beaumont Health System, 3601 West Thirteen Mile Road, Royal Oak, MI 48073 (e-mail: [email protected]). Diagnostic Molecular Pathology 22(3):p 156-160, September 2013. | DOI: 10.1097/PDM.0b013e31828564fe Buy Metrics Abstract FLT3 is one of the most frequently mutated genes in acute myeloid leukemia. Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive. The goal of our study is to evaluate the mutational status of the FLT3 gene in patients with an MPN or MDS/MPN, in correlation with the JAK2 mutational status. Patient specimens were retrospectively identified on the basis of MPN or MDS/MPN diagnosis and JAK2 analysis from February 2006 to December 2011. FLT3 mutation analysis was performed on DNA extracted from 152 patients using polymerase chain reaction amplification and analysis of amplicons by gel electrophoresis for internal tandem duplication mutations and by restriction endonuclease digestion fragment analysis for the D835 point mutation. FLT3 mutation analysis was performed on 90 cases of JAK2-negative MPN or MDS/MPN and 62 cases of JAK2-positive MPN. One FLT3 internal tandem duplication mutation was identified in the JAK2-negative group (1.1%), and none were identified in the JAK2-positive group, confirming the absence of FLT3 mutations in JAK2-positive specimens. The FLT3-positive MPN patient was diagnosed with MPN, unclassifiable, and was later found to have myeloid sarcoma; thus, FLT3 mutation was not seen in the usual types of MPN in our series. Our result of 1.1% FLT3 mutations in JAK2-negative MPN and MDS/MPN cases is lower than the 9.2% previously reported. © 2013 by Lippincott Williams & Wilkins.