Oliveira, Jennifer L.

Nodular fasciitis (NF) is a clonal self‐limited neoplastic proliferation characterized by rearrangements of the USP6 locus in most examples. To our knowledge well‐documented malignant behavior has never been previously observed in NF. In this report we present an unusual case of NF with classical histologic features that showed a protracted clinical course characterized by multiple recurrences and eventual metastatic behavior over a period of 10 years. Molecular analyses revealed the presence and amplification of the novel PPPR6‐USP6 gene fusion, which resulted in USP6 mRNA transcriptional upregulation. These findings further support the oncogenic role of the USP6 protease in mesenchymal neoplasia and expand the biologic potential of NF. © 2016 Wiley Periodicals, Inc.

Deletion of the long arm of chromosome 20 (20q‐) is a frequent finding in bone marrow karyotypes, mainly associated with myeloid neoplasms (MNs). Its clinical significance in the setting of normal bone marrow morphology is unclear. We described the clinical characteristics, cytogenetic findings, and outcome of 102 such patients seen at our institution from 2000‐2014. Their median age was 66 years. The indication for bone marrow biopsy was either unexplained cytopenias (48%) or hematologic cancer staging/reevaluation (52%). In 88 (86%) patients, 20q‐ was an isolated finding. Thirty‐nine (38%) patients previously received chemotherapy and 88 (86%) had cytopenias at the time of 20q‐ finding. After a median of 35 months, 12 (13%) patients developed MNs: 10 myelodysplastic syndromes, one acute myeloid leukemia and one myeloproliferative neoplasm. None of 14 patients with normal blood counts, but 7 of 35 (20%) with mild cytopenias, and 5 of 53 (9%) with moderate/severe cytopenias developed MNs. We did not find an association between the number of metaphases with 20q‐ and the development of MN. The incidental finding of 20q‐ in the bone marrow generally does not portend an early stage MN. Particularly, those without cytopenias at the time of diagnosis may have a good prognosis. Am. J. Hematol. 91:556–559, 2016. © 2016 Wiley Periodicals, Inc.

SummaryIntroductionHigh‐performance liquid chromatography (HPLC) is a method commonly used for the detection of hemoglobin (Hb) variants. In addition to providing precise quantitation of Hb A2 and Hb F, the reported retention time and peak shape of a high number of hemoglobin (Hb) variants are very helpful for presumptive identification. However, there is a scarcity of summarized data in the literature of the mobility of Hb variants on this method.MethodsA total of 383 Hb variants were studied on the Bio‐Rad Variant ™ Classic HPLC instrument. Hb variant identification used a number of methods, including confirmation by DNA sequencing in at least one case for all alpha and beta chain Hb variants.ResultsRetention time data and the number of occurrences of each Hb variant were obtained. This showed that rare Hb variants can have similar retention times to the five most common alpha or beta chain Hb variants.ConclusionHPLC is a very powerful tool in the evaluation of Hb variants, particularly when combined with other methods. However, it should not be used as a stand‐alone method for definitive identification of Hb variants.