Open AccessMLLrearranged acute lymphoblastic leukaemia presenting as a maxillary sinus mass with a discordant immunophenotypic profile from the bone marrow
Author(s) -
YunZu Michele Wang,
Jun Qin Mo,
Dennis John Kuo,
Victor Wong
Publication year - 2019
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-227400
Subject(s) - medicine , immunophenotyping , bone marrow , malignancy , acute lymphocytic leukemia , pathology , maxillary sinus , gene rearrangement , chemotherapy , mass cytometry , leukemia , lymphoblastic leukemia , immunology , surgery , flow cytometry , biochemistry , chemistry , gene , phenotype
We describe an unusual case of pre-B lymphoblastic leukaemia presenting with a unilateral maxillary sinus mass in which biopsies of the primary mass and the bone marrow demonstrated conflicting immunophenotyping results. The extramedullary mass was consistent with a precursor B-cell malignancy, while the bone marrow was initially reported as a possible mature B-cell malignancy. The treatments for the two are fundamentally different, which necessitated a delay in the initiation of his chemotherapy until a clear diagnosis was made. Mixed lineage leukaemia gene rearrangement was confirmed by fluorescence in situ hybridisation in both the primary mass and bone marrow, which unified the diagnosis as pre-B acute lymphoblastic leukaemia given the common cytogenetic feature.