Contributed by Stell Patadji, MD, Rebecca Leeman-Neill, MD/PhD, Miroslav Djokic, MD
The patient is a young adult male who presented at the outside hospital with much more fatigue than usual for the last couple of months since early last fall. His symptoms dramatically worsened a couple of weeks prior to presentation, consisting of early satiety, pressure and left back pain. He had lost about 10 pounds over 1.5 weeks, but the rest of his review of system was unremarkable. He was transferred here given his leukocytosis of 50 x 109/L and a bone marrow biopsy showing marked myeloid hyperplasia consistent with Myeloproliferative Neoplasm (MPN), best classified as BCR-ABL negative Chronic Myelomonocytic Leukemia (CMML) per outside report.
Upon transfer, the patient's WBC increased to 124.1, Hgb 9.6, PLT 93k, and splenomegaly (19 cm) on CT with no signs of infarction. He was started on Hydrea 1g BID for cytoreduction, while the outside bone marrow was reviewed in house. Given the persistent splenomegaly with multiple new wedge-shaped peripheral based hypoattenuating lesions consistent with numerous splenic infarcts and worsening of his disease state, he was started on induction therapy of 7+3 of Idarubicin/Cytarabin. The bone marrow differential and findings are shown below in Figures 1, 2, and 3.
Fluorescence in situ hybridization (FISH) was positive for the FGFR1 gene rearrangement in 30 of the 50 interphase cells examined (60%) including 21 cells (42.0%) with an extra distal signal for FGFR1.
After review, the bone marrow was signed out as myeloid neoplasm with t(8;13)(p11.1;q12). A day 18 bone marrow was ordered; the differential and findings are shown in Figures 5, 6 and 7.
What is the diagnosis?