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FISH 4q12 (PDGFA)

TEST NAME

– FISH 4q12 (PDGFA)
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ABOUT TEST

– Myeloid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 are a group of hematologic neoplasms resulting from the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. These entities are now separated into their own major category in the 2017 WHO classification of hematolymphoid tumors. Although eosinophilia is characteristic of these diseases, the clinical presentation of the three entities is variable. Karyotyping will detect the majority of abnormalities involving PDGFRB and FGFR1, but FISH/molecular studies are required to detect factor interacting with PAP (FIP1L1)-PDGFRA as the characteristic 4q12 interstitial deletion is cryptic. Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA/B, whereas patients with FGFR1 fusions are resistant to this therapy and carry a poor prognosis.
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GENES TESTED

– 4q12
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SAMPLE REQUIREMENTS

– Green
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TAT

– 14
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Related Tests

– FISH 5q33 (PDGFB)
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