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Nodular fasciitis is a benign fibroblastic proliferation typically found in the subcutaneous tissue or superficial fascia of the extremities that is often confused for malignancy. These lesions rarely occur on the eyelids and ocular adnexa and are seldom analyzed by ophthalmic pathologists. USP6 gene rearrangement has been recently demonstrated in nodular fasciitis and this rearrangement may lead to the formation of a fusion gene MYH9-USP6 in some cases. Herein, the authors describe a 38-year-old woman with a 6-month history of a progressively enlarging mass beneath her right medial upper eyelid. Histopathologic analysis of the excisional biopsy confirmed classic features of nodular fasciitis. Molecular cytogenetic analysis revealed a rearrangement of the USP6 locus, confirming the diagnosis of benign nodular fasciitis.

Refractory anemia with ring sideroblasts and thrombocytosis (RARS‐T) shares overlapping features of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). RARS‐T is characterized by SF3B1 and JAK2 mutations and prognosis is considered to be better than MDS but not as good as MPN. The objective of the study was to identify predictors of survival in RARS‐T. We analyzed clinical and laboratory variables in 82 patients and applied a 27‐gene NGS assay to 48 marrow samples obtained at diagnosis. 94% of patients had ≥1 mutations; common mutations being: SF3B1 85%, JAK2 V617F 33%, ASXL1 29%, DNMT3A 13%, SETBP1 13% and TET2 10%. In a multivariable survival analysis ( n = 82), anemia ( P = 0.02) [HB< 10 gm/dl: HR 2.3, 95% CI 1.2–4.6] and abnormal karyotype ( P =.01) [HR 6.1, 95% CI 2.7‐13.8] were independently prognostic for inferior survival. In patients with NGS information ( n = 48), univariate analysis showed association between poor survival and presence of SETBP1 ( P = 0.04) or ASXL1 ( P = 0.08) mutations whereas the absence of these mutations ( ASXL1 wt/ SETBP1 wt) was favorable ( P = 0.04); the number of concurrent mutations did not provide additional prognostication ( P = 0.3). We developed a HR‐weighted prognostic model, with 2 points for an abnormal karyotype, 1 point for either ASXL1 and/or SETBP1 mutations, and 1 point for a HB level < 10 gm/dl, which effectively stratified patients into three risk categories; low (0 points), intermediate (1 point) and high (≥2 points), with median survivals of 80, 42 and 11 months respectively ( P = 0.01). In summary, we confirm the unique mutational landscape in RARS‐T and provide a novel mutation‐enhanced prognostic model. Am. J. Hematol. 91:492–498, 2016. © 2016 Wiley Periodicals, Inc.

AbstractBackgroundPublished case series describe lenalidomide as an effective treatment of refractory cutaneous lupus erythematosus (CLE).ObjectivesThe present study aimed to further characterize lenalidomide use in the treatment of CLE.MethodsA retrospective review of patients treated with lenalidomide for CLE from January 1, 2000, to December 17, 2014, was conducted.ResultsEight of the nine patients (89%) were women. Their median age at initiation of lenalidomide was 62 years (range: 41–86 years). Subtypes of CLE included discoid lupus erythematosus (DLE) (n = 6), lupus panniculitis (n = 2), and subacute CLE (n = 1). Before the initiation of lenalidomide, all patients had been previously treated unsuccessfully or were intolerant to at least one antimalarial and one immunosuppressive agent. With lenalidomide, five patients achieved a complete response (CR), two a partial response, and two had no response (lupus panniculitis). Time to initial response (dose range: 2.5–10.0 mg/d) varied from 2 weeks to 3 months; the median time to CR in five patients was 3 months (range: 3–6 months). The median duration of lenalidomide therapy was 12 months (range: 2–67 months). The median duration of follow‐up was 48 months (range: 20–103 months). Adverse effects included mild leukopenia; one patient had deep vein thrombosis of unclear etiology during a hospitalization. No patients developed or showed progression of systemic LE while receiving lenalidomide.ConclusionsLenalidomide was effective for the treatment of CLE (particularly DLE) but not for the treatment of lupus panniculitis in this series.