Fusion-harboring mast cells can explain molecular positivity in flow cytometric MRD-negative core-binding factor AML.

Molecular measurable residual disease can persist in core-binding factor acute myeloid leukemia in otherwise disease-free patients. Utilizing cell sorting followed by fluorescent in situ hybridization, we show that detection is due to mast cells.

Assessment for 11q and other chromosomal aberrations in large B-cell/high-grade B cell lymphomas of germinal center phenotype lacking BCL2 expression.

The WHO classifications of hematolymphoid malignancies have recognized several distinct entities within the large B cell lymphomas, including the more recently described high-grade B cell lymphoma with 11q aberration (HGBCL-11q). We utilized genomic array to assess for chromosome 11q abnormalities in a broad set of aggressive B cell lymphomas from 27 patients with a focus on younger adults. The findings suggest more frequent alterations of 11q in diffuse large B cell lymphoma (DLBCL)/HGBCL-GC BCL2-, in comparison to cases of Burkitt lymphoma (BL) or DLBCL-GC BCL2+, and confirm a low genomic complexity score of BL.

Application of Health Technology Assessment (HTA) to Evaluate New Laboratory Tests in a Health System: A Case Study of Bladder Cancer Testing.

We describe the methods and decision from a health technology assessment of a new molecular test for bladder cancer (Cxbladder), which was proposed for adoption to our send-out test menu by urology providers. The Cxbladder health technology assessment report contained mixed evidence; predominant concerns were related to the test's low specificity and high cost. The low specificity indicated a high false-positive rate, which our laboratory formulary committee concluded would result in unnecessary confirmatory testing and follow-up.

Silver Lining: Reduced Relapse with Chronic GVHD after Transplant for MDS.

Chronic GVHD following hematopoietic cell transplantation is associated with reduced relapse incidence in patients with leukemias. This impact has been investigated in myelodysplastic syndrome, showing a beneficial impact of limited chronic GVHD on transplant outcomes in a cohort of more than 3,000 patients..

CD33 expression on natural killer cells is a potential confounder for residual disease detection in acute myeloid leukemia by flow cytometry.

Detection of minimal/measurable residual disease (MRD) in acute myeloid leukemia (AML) is important for guiding patient-specific clinical management. Natural killer (NK) cells can express various markers not typically associated with NK lineage, potentially confounding the detection of MRD by flow cytometry. We have observed CD33 expression on NK cells when evaluating for AML MRD in routine clinical practice in multiple patient samples.

A Paradigm Shift: Considerations in Prenatal Cell-Free DNA Screening.

Background: Testing to determine the health of a fetus has undergone multiple iterations since the widespread adoption of amniocentesis in the 1970s, including several combinations of ultrasound and/or maternal serum screening. The clinical paradigm for prenatal screening for fetal chromosome aneuploidies was transformed by the introduction of cell-free DNA (cfDNA) screening or noninvasive prenatal screening in 2011.

Content: The clinical performance of cfDNA screening is well-established for the most common autosomal and sex chromosome aneuploidies with a detection rate exceeding 90% for all aneuploidies.

Oral manifestations as the first presenting sign of Crohn's disease in a pediatric patient.

Crohn's disease (CD) is a chronic inflammatory disorder affecting the gastrointestinal (GI) tract. Although the GI tract is the primary site of involvement, many patients, particularly in pediatric cases, first present with non-intestinal manifestations, including oral lesions. Oral manifestations of CD in children occur in around 50-80% of cases, and about 30% of CD cases in children occur first in the mouth.

Transfusion Practice in Trauma Resuscitation.

Recognition of the acute coagulopathy of trauma and the limits of reconstituting whole blood with conventional blood components has led to a radical change in the way trauma patients with severe injuries are resuscitated. Massive transfusion protocols (MTP) have evolved toward the administration of conventional blood components in fixed ratios. Administration of a 1:1:1 unit ratio of fresh frozen plasma to whole-blood-derived platelets to packed red blood cells is now the most common strategy and the stated goal of directors of >80% of the level I trauma centers in the United States.