Chronic lymphocytic leukemia (CLL) is an indolent low-grade B-cell neoplasm that generally responds well to treatment. Rarely, CLL cases exhibit an IGH::CCND1 rearrangement, presenting a diagnostic challenge in distinguishing between clonal evolution within CLL and an independent mantle cell lymphoma. We report a case of CLL with the emergence of an IGH::CCND1 rearrangement and mutations associated with treatment resistance, including TP53, BTK, and BCL2, during disease progression. Immunophenotypic, cytogenetic, and molecular analyses support that these alterations are secondary events within the CLL clone. This case demonstrates dynamic clonal selection and expansion in response to treatments, which, in turn, contributes to treatment resistance.
Transfusion reactions occur at an estimated incidence of 2 per 1.000 transfused products. Anaphylactic transfusion reactions are rarer, and seen in 1 per 10.000 transfusions, and are mostly related to platelet transfusions. Here, we describe a rare cause of a transfusion reaction.
A 19-year-old man underwent an allogeneic haematopoietic stem cell transplantation for sickle cell disease and developed an anaphylactic shock following a platelet transfusion, after excluding all common causes. The patient reported a shrimp allergy, and one of the blood/platelet donors had consumed shrimp the day before donation. Elevated levels of specific immunoglobulin E (IgE) directed against shrimp and tropomyosin allergens were found in the patient. Subsequent transfusions were performed with apheresis platelets from selected donors who were instructed to avoid shrimp consumption, and these transfusions were uneventfully.
When a severe transfusion reaction occurs in a patient with a known food allergy, an IgE-mediated (food-related) transfusion reaction should be considered after excluding other causes.
The study aimed to establish meaningful thresholds at patient and group levels for the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire CLL-specific module (EORTC QLQ-CLL17) domain scores in adults with relapsed or refractory (R/R) chronic lymphocytic leukaemia (CLL).
Data for the analysis were from the TRANSCEND CLL 004 study (NCT03331198). EORTC QLQ-CLL17 and selected anchor measures were assessed at baseline and multiple postbaseline visits up to 24 months after treatment initiation. Thresholds for each of the three EORTC QLQ-CLL17 domains were triangulated based on estimates derived from anchor- and distribution-based analyses, in accordance with published guidance.
The analysis included 62 patients with 240 observations across visits. Meaningful change thresholds for improvement and deterioration, respectively, at the patient level were determined to be −11/+11 for symptom burden, −16/+16 for physical condition/fatigue and −16/+13 for worries/fears on health and functioning. The meaningful change thresholds for improvement and deterioration at the group level mostly ranged between 0.3 and 0.5 of the standard deviation of baseline domain scores.
These thresholds, based on EORTC QLQ-CLL17 domain scores, could help identify patients with meaningful changes in HRQOL and interpret treatment effects in future studies of treatments for adults with R/R CLL.
VEXAS syndrome is a rare condition characterized by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene and a constellation of clinical/morphologic findings, including the presence of cytoplasmic vacuoles within bone marrow hematopoietic cells.
In this report, we present a case of a male patient diagnosed with VEXAS-associated myelodysplastic syndrome following the detection of a non-canonical UBA1 p.Gly477Ala variant whose bone marrow biopsy revealed a conspicuous absence of cytoplasmic vacuolization in hematopoietic cells. This case prompts a comprehensive review of the existing literature on the significance and pathobiology of vacuolization in the context of VEXAS and UBA1 mutations.
The genetic landscape underlying the transformation of splenic diffuse red pulp small B-cell lymphoma (SDRPL) is not well understood. The present study aimed to unravel the genomic alterations involved in the progression and transformation of SDRPL. We performed genetic studies on both SDRPL and subsequent or synchronous diffuse large B cell lymphoma (DLBCL) samples in three SDRPL patients who eventually developed DLBCL. Our findings revealed that SDRPL cases progressing to DLBCL acquired genomic alterations in genes related to the cell cycle (CDKN2A/B, TP53, MYC and CCND3) and B cell development (BCL6).
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