Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB or FGFR1
Definition
- Any of several myeloproliferative neoplasms or lymphoid neoplasms with accompanying rearrangements or other mutations in PDGFRA, PDGFRB or FGFR1
Diagnostic Criteria
- These disorders are defined by the tyrosine kinase involved :
- No BCR-ABL1 or Philadelphia chromosome
- Myeloid and lymphoid neoplasms with PDGFRA rearrangement
- Most common rearrangement is FIP1L1-PDGFRA
- Rare others involving PDGFRA may occur
- Makes up 10-20% of idiopathic hypereosinophilias
- Primarily seen in males
- Most common neoplasm is chronic eosinophilic leukemia (CEL)
- Peripheral eosinophilia >1 x 103/μL for >6 months
- May also present as AML, T lymphoblastic lymphoma, CML
- Myeloid neoplasms with PDGFRB rearrangement
- Most common rearrangement is t(5;12)(q31-q33;p12)
- Results in ETV6-PDGFRB fusion gene
- Most common neoplasm is chronic myelomonocytic leukemia with eosinophilia
- Myeloid and lymphoid neoplasms with FGFR1 abnormalities
- Most common is t(8;13)(p11;q12) involving FGFR1
- Other rearrangements or fusion genes involving FGFR1 may be seen
- Most frequent neoplasms are CEL, AML, T lymphoblastic lymphoma, precursor B lymphoblastic lymphoma/leukemia
Dita Gratzinger MD PhD
Tracy I George MD
Department of Pathology
Stanford University School of Medicine
Stanford CA 94305-5342
Original posting: 10/23/11
