TY - JOUR
T1 - Contemporary classification and diagnostic evaluation of hypereosinophilia
T2 - An ACLPS critical review
AU - Mattis, Daiva M.
AU - Wang, Sa A.
AU - Lu, Chuanyi M.
N1 - Publisher Copyright:
© 2020 American Society for Clinical Pathology. All rights reserved.
PY - 2020
Y1 - 2020
N2 - Objectives: To provide an in-depth review of the classification and diagnostic evaluation of hypereosinophilia (HE), with a focus on eosinophilic neoplasms. Methods: A review of published literature was performed, and exemplary HE cases were identified. Results: Causes of HE are diverse and can be grouped under three categories: Primary (neoplastic), secondary (reactive), and idiopathic. Advances in cytogenetics and molecular diagnostics have led to elucidation of the genetic basis for many neoplastic hypereosinophilic disorders. One common molecular feature is formation of a fusion gene, resulting in the expression of an aberrantly activated tyrosine kinase (TK). The World Health Organization endorsed a biologically oriented classification scheme and created a new major disease category, namely, "myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB or FGFR1, or with PCM1-JAK2."Rearrangement of other TK genes and activating somatic mutation(s) in TK genes have also been reported in eosinophilic neoplasms. Diagnostic evaluation of HE involves a combination of clinical, histopathologic, and immunophenotypic analyses, as well as molecular genetic testing, including next-generation sequencing-based mutation panels. The management of primary HE is largely guided by the underlying molecular genetic abnormalities. Conclusions: A good knowledge of recent advances in HE is necessary to ensure prompt and accurate diagnosis, as well as to help optimize patient care.
AB - Objectives: To provide an in-depth review of the classification and diagnostic evaluation of hypereosinophilia (HE), with a focus on eosinophilic neoplasms. Methods: A review of published literature was performed, and exemplary HE cases were identified. Results: Causes of HE are diverse and can be grouped under three categories: Primary (neoplastic), secondary (reactive), and idiopathic. Advances in cytogenetics and molecular diagnostics have led to elucidation of the genetic basis for many neoplastic hypereosinophilic disorders. One common molecular feature is formation of a fusion gene, resulting in the expression of an aberrantly activated tyrosine kinase (TK). The World Health Organization endorsed a biologically oriented classification scheme and created a new major disease category, namely, "myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB or FGFR1, or with PCM1-JAK2."Rearrangement of other TK genes and activating somatic mutation(s) in TK genes have also been reported in eosinophilic neoplasms. Diagnostic evaluation of HE involves a combination of clinical, histopathologic, and immunophenotypic analyses, as well as molecular genetic testing, including next-generation sequencing-based mutation panels. The management of primary HE is largely guided by the underlying molecular genetic abnormalities. Conclusions: A good knowledge of recent advances in HE is necessary to ensure prompt and accurate diagnosis, as well as to help optimize patient care.
KW - Flow cytometry
KW - Genetics
KW - Hematopathology
KW - Immunopathology
KW - Molecular diagnostics
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U2 - 10.1093/AJCP/AQAA056
DO - 10.1093/AJCP/AQAA056
M3 - Review article
C2 - 32525541
AN - SCOPUS:85089203147
SN - 0002-9173
VL - 154
SP - 305
EP - 318
JO - American journal of clinical pathology
JF - American journal of clinical pathology
IS - 3
ER -