Expression of VEGF receptors, both by vascular endothelium and infiltrating mononuclear cells, is observed in rosacea. Although not expressed by endothelium, VEGF is present in epidermis and epithelium, and is expressed by infiltrating cells. VEGF receptor-ligand binding may contribute to the vascular changes and cellular infiltration that occurs in rosacea.
Cytogenetic studies are part of the standard of care for the diagnosis, classification, and prognostic assessment of acute myeloid leukemia (AML). Metaphase karyotyping has been used traditionally; however, reoccurring genetic abnormalities in AML have been determined, enabling the use of interphase fluorescence in-situ hybridization (FISH) , extra BCR signals, 11q23 break-apart, and 11q23 amplification in one case for each probe. In other cases, both karyotype and FISH were positive for abnormal chromosome changes, but with different patterns. The karyotype revealed monosomy 5 in four cases and monosomy 7 in one case, while the corresponding FISH identified deletion 5q31 and monosomy 7 plus deletion 7q. Advantages of FISH are increased sensitivity, detection of targeted mutations, and use with fresh or paraffin embedded tissue. Additionally, it can be used to follow minimal residual disease (MRD). Metaphase karyotyping does provide a better overall genetic picture, which is important for initial diagnosis in AML. We propose that metaphase karyotyping be used initially with reflux FISH panel. FISH can then be used to follow MRD.
The evaluation of minimal residual disease (MRD) in acute myeloid leukemia (AML) is an important strategy to identify patients at high risk of relapse. There is no standardized MRD assay. This study compared 8-color flow to detect aberrant antigen expression of blasts with cytogenetic/molecular test at diagnosis (day 0) and postinduction (day 30). A total of 85 AML patients were included, 71 with abnormal cytogenetic/molecular results at diagnosis at day 0 and cytogenetic/molecular results at day 30, 11 with no complete cytogenetic/molecular data, and 3 with normal cytogenetic/molecular test. Flow MRD is positive if ≥ 2 aberrant antigen expressions are present both at day 0 and at day 30 at the blast level of 0.1-5%; suspicious if 1, and negative if 0. At initial diagnosis, flow detected aberrant antigen expression in 100% cases, with CD34 (76%), HLA-DR (47%) and CD7 the most common (35%). Seventy-five percent of patients have ≥ 3 aberrant antigens at diagnosis. Eighty-seven percent (62/71) of patients are positive or negative for MRD by flow, and 13% (9/71) patients are suspicious. Of 62 patients, 39% (24/62) patients are positive, and 61% (38/62) patients negative for MRD by flow, while 34% (21/62) of patients are positive, and 66% (41/62) of patients negative by cytogenetic/molecular test. Flow is accordant with cytogenetic/molecular results in 89% (55/62), and discordant in 11% (7/62) of patients. Among the 9 patients suspicious for MRD by flow, 44% (4/9) patients are positive, and 56% (5/9) patients negative by cytogenetic/molecular test. In conclusion, for cases with ≥ 2 aberrant antigens both at day 0 and day 30, flow is more sensitive than cytogenetic/molecular test for MRD detection. For cases with 1 aberrant antigen at day 30, 44% (4/9) patients are positive for MRD by cytogenetic/molecular test. Fifty-six percent (5/9) of patients are negative by cytogenetic/molecular test, which is mostly due to low percentage of blast population, which is below the limitation of the cytogenetic test (< 0.5%), and/or sampling issue.
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