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

Diagnostic challenges in the work up of hypereosinophilia: pitfalls in bone marrow core biopsy interpretation
Diagnostic challenges in the work up of hypereosinophilia: pitfalls in bone marrow core biopsy interpretation
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.
hypereosinophilia, FIP1L1-PDGFRA, bone marrow histology, misdiagnosis
557-562
Schwaab, Juliana
d63ed545-a6fc-4815-ab86-f901e55c2a2f
Jawhar, Mohamad
a608a215-173b-47bd-89eb-a8de2fe595aa
Naumann, Nicole
43566136-d964-415e-be36-45aeb4f88965
Schmitt-Graeff, Annette
2903ba9c-3428-4fbf-977c-3c72cbeebaa4
Fabarius, Alice
5c31b1e0-c6da-49b8-843a-5b0ca736e5a2
Horny, Hans-Peter
95077a3b-b869-49ba-a227-f88b2c0bad80
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Hofmann, Wolf-Karsten
ab66838b-bf8c-4352-a0f0-3c8aafed2570
Reiter, Andreas
ffa23e84-4a13-4cb5-aaf0-3fafe25dbede
Metzgeroth, Georgia
611ec46d-9a11-4e24-ae0f-5ac19dfd0237
Schwaab, Juliana
d63ed545-a6fc-4815-ab86-f901e55c2a2f
Jawhar, Mohamad
a608a215-173b-47bd-89eb-a8de2fe595aa
Naumann, Nicole
43566136-d964-415e-be36-45aeb4f88965
Schmitt-Graeff, Annette
2903ba9c-3428-4fbf-977c-3c72cbeebaa4
Fabarius, Alice
5c31b1e0-c6da-49b8-843a-5b0ca736e5a2
Horny, Hans-Peter
95077a3b-b869-49ba-a227-f88b2c0bad80
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Hofmann, Wolf-Karsten
ab66838b-bf8c-4352-a0f0-3c8aafed2570
Reiter, Andreas
ffa23e84-4a13-4cb5-aaf0-3fafe25dbede
Metzgeroth, Georgia
611ec46d-9a11-4e24-ae0f-5ac19dfd0237

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)

Record type: Article

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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More information

Accepted/In Press date: 9 January 2016
e-pub ahead of print date: 22 January 2016
Published date: March 2016
Keywords: hypereosinophilia, FIP1L1-PDGFRA, bone marrow histology, misdiagnosis
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 386552
URI: http://eprints.soton.ac.uk/id/eprint/386552
PURE UUID: 2d599eb2-cc49-4130-86f0-75ff4810eaa9
ORCID for Nicholas C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 02 Feb 2016 11:30
Last modified: 17 Dec 2019 01:51

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Contributors

Author: Juliana Schwaab
Author: Mohamad Jawhar
Author: Nicole Naumann
Author: Annette Schmitt-Graeff
Author: Alice Fabarius
Author: Hans-Peter Horny
Author: Wolf-Karsten Hofmann
Author: Andreas Reiter
Author: Georgia Metzgeroth

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