Diagnostic challenges in the work up of hypereosinophilia: pitfalls in bone marrow core biopsy interpretation

Schwaab, Juliana, Jawhar, Mohamad, Naumann, Nicole, Schmitt-Graeff, Annette, Fabarius, Alice, Horny, Hans-Peter, Cross, Nicholas C.P., Hofmann, Wolf-Karsten, Reiter, Andreas and Metzgeroth, Georgia (2016) Diagnostic challenges in the work up of hypereosinophilia: pitfalls in bone marrow core biopsy interpretation. Annals of Hematology, 95 (4), 557-562. (doi:10.1007/s00277-016-2598-x). (PMID:26797429)

Abstract

The FIP1L1-PDGFRA (FP) fusion gene is identified in a substantial proportion of patients with eosinophilia-associated myeloproliferative neoplasms (MPN-eo) who subsequently achieve rapid and durable remissions on imatinib. In the initial diagnostic work-up of hypereosinophilia (HE), histologic and immunohistochemical evaluation of a bone marrow (BM) core biopsy is considered essential for the differentiation between reactive hypereosinophilia (HER), MPN-eo and hypereosinophilic syndrome (HES). We therefore retrospectively analysed the initial reports of BM core biopsies from 116 patients who were subsequently identified as FP positive (FP+, n?=?56) or FP negative/corticosteroid-responsive HER or HES (n?=?60). Compared to HER or HES, detection of FP was more frequently associated with increased numbers of blasts (11/56 vs. 2/60, p?=?0.007) and mast cells (23/33 vs. 7/23, p?=?0.006; with expression of CD25 [11/18 vs. 2/13, p?=?0.025]), and/or fibrosis (25/35 vs. 1/23, p?<?0.0001). In FP+ patients, HE was correctly associated with an underlying clonal haematologic disorder in only 36/56 (64 %) of cases, but final BM diagnoses included a variety of diagnoses such as MPN-eo (n?=?15), acute myeloid leukaemia (n?=?8), systemic mastocytosis (n?=?6), chronic myeloid leukaemia (n?=?5) or unclassified MPN (n?=?2). We conclude that the final evaluation of BM core biopsies in the diagnostic work-up of HE should include comprehensive morphologic (stains for myeloid blast cells, mast cells and fibres) and genetic analyses before a final diagnosis is established.

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Contributors

Author: Nicholas C.P. Cross

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