14. Concurrent systemic mastocytosis and T-lymphoblastic lymphoma unified by a novel cryptic JAKMIP2::PDGFRB rearrangement

Rearrangements leading to constitutive PDGFRB activity are a rare cause of myeloid/lymphoid neoplasms, usually presenting as myelodysplastic/myeloproliferative neoplasms with prominent eosinophilia. These rearrangements are generally detectable by conventional karyotyping and are important to identify as they typically confer sensitivity to imatinib. Here we report a unique case of a myeloid/lymphoid neoplasm with cryptic PDGFRB rearrangement that presented as an unusual combination of T-lymphoblastic lymphoma (T-LBL) and systemic mastocytosis (SM).

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Kevin Shopsowitz, Zeid Hamadeh, Ryan Stubbins, Hayley Merkeley, Helene Bruyere, Mohammad Bahmanyar, Eric McGinnis Source Type: research