Diffuse Large B-Cell Lymphomas: From Morphology to Genomic Profiling

Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma in the western world. The classification of these lymphomas has been and continues to be one of the most challenging aspects of this entity. DLBCLs are clinically and morphologically very heterogeneous diseases presenting a barrier to successfully developing adequate classification systems with significant clinical, prognostic and therapeutic relevance. Recent gene expression profiling and next-generation sequencing advances have improved our understanding of the disease. This review will present an up-to-date overview of traditional and modern classification systems in DLBLC, emphasizing newly proposed subgroups based on integrating gene expression profiling and sequencing data

Chronic Lymphocytic Leukemia with Translocation (2;14)(p16;q32): A Case Report and Review of the Literature

We report the case of a young African American male with no significant past medical history presenting with low back and bilateral leg pain; presenting CBC and chemistries revealed elevated white blood cell count of 250,000, with anemia (Hb 6.8 g/dL) and thrombocytopenia (platelets 9 K/μL), and elevated LDH, 1008. Physical examination findings were notable for diffuse lymphadenopathy and lower extremity skin nodules. Interestingly the bone marrow biopsy revealed involvement by CLL/SLL with translocation (2;14)(p16;q32) and trisomy 12. The patient was treated with fludarabine-based chemotherapy and steroids for CLL-related ITP with excellent response. After three cycles of chemotherapy, all the enlarged lymph nodes and skin nodules disappeared, and patient had achieved complete hematologic response. In this paper we also reviewed the available literature of CLL patients with translocation (2;14)

MALT Lymphoma Masquerading as Thyroid Orbitopathy (.pdf)

67 y/o WF referred for disc edema OS, complaining of distortion OS x 1 year. No headaches. PMH: hypertension and hypothyroidism. SH: 40 pack-years of smoking. Exam revealed 20/20 and 20/25. Visual fields were FTC, and color vision was normal. Pupils: 1+ reaction OU, and no RAPD. EOM revealed mild limitations. Exam demonstrated RLL and LLL edema, bilateral brow ptosis, bilateral Queen Anne sign, and lid retraction with an MRD of 6 mm OU. Hertel was 20 and 22 with a base of 97. DFE OS revealed 2+ disc edema. TED with compressive optic neuropathy OS was suspected. CT revealed bilateral apical orbital soft tissue masses with widening of the superior orbital fissures bilaterally and extension on the left side into the left pterygopalatine fossa and along branches of the left trigeminal nerve. MRI further characterized the masses limited to the posterior third of the orbits R>L, bilateral infiltration of the adjacent tendons of the EOMs with infiltration into the muscle bellies on the right, and extension along the left petrous ridge and left free edge of the tentorium. Left upper cervical adenopathy was identified by imaging and then biopsied by ENT. Results revealed a low-grade marginal zone lymphoma (MALToma) composed of CD20+ B-cells with abnormal coexpression of BCL2. Concurrent flow cytometry identified a population of CD5-/CD10- kappa light chain restricted B-cell population. CT chest, abdomen, and pelvis was unremarkable

PML-RARA Fusion Transcripts Detectable 8 Months prior to Promyelocytic Blast Crisis in Chronic Myeloid Leukemia

Promyelocytic blast crisis arising from chronic myeloid leukemia (CML) is rare. We present a 40-year-old male who developed promyelocytic blast crisis 17 months after CML diagnosis, confirmed by the presence of the t(15;17) and t(9;22) translocations in the leukemic cells. Preserved nucleic acids from routine BCR-ABL1 testing provided a unique opportunity to evaluate clonal progression over time. Retrospective analysis demonstrated PML-RARA fusion transcripts were first detectable 8 months prior to blast crisis presentation. A review of 21 cases of promyelocytic blasts crisis published in the literature reveals a male predominance with earlier age at onset as compared to females. Interestingly, TKI therapy during chronic phase did not impact the time interval between diagnosis and promyelocytic blast crisis. Treatment with standard acute promyelocytic leukemia regimens provides more favorable outcomes with complete molecular remission. Although rare, it is important to consider a promyelocytic blast crisis when evaluating for transformation of CML due to its effective treatment with specific therapies