Background: Autoimmune myelofibrosis (AIMF) is an underrecognized cause of nonmalignant bone marrow fibrosis which occurs in the presence or absence of a defined systemic autoimmune disease. Patients with AIMF present with cytopenias and autoantibodies, and have a distinctive nonclonal myelofibrosis on bone marrow examination. AIMF is distinguished from primary myelofibrosis by the absence of splenomegaly, eosinophilia, or basophilia, and the absence of abnormal myeloid, erythroid, or megakaryocytic morphology. Objectives: The objective of the study was to describe the clinical presentation and outcomes of patients with AIMF. Methods: We conducted a single-institution, retrospective chart review of patients diagnosed with AIMF to investigate clinical presentations, therapies, and outcomes. Results: Twelve patients with AIMF were identified with a mean follow-up of 5.8 years. All patients had detectable autoantibodies and the majority had concomitant autoimmune disorders. Four patients experienced a complete response of cytopenias and 3 patients experienced a partial response (PR) of cytopenias with immunosuppressive therapy. One patient achieved a PR following splenectomy. No patients were diagnosed with myeloproliferative neoplasms during the follow-up period. Conclusions: AIMF contributes to cytopenias in the subset of patients with various autoimmune disorders. The majority of patients with AIMF experience an improvement in cytopenias with immunosuppressive therapy.

We report on an unusual case of a 43-year-old woman who developed a malignant soft tissue tumor of the arm with overlapping morphology between synovial sarcoma (SS) and extraskeletal myxoid chondrosarcoma (EMC). The tumor recurred 7 years after the initial diagnosis and continued to demonstrate both SS and EMC histology. Immunophenotypically, the primary and recurrent tumors were both positive, focally, for cytokeratin, S-100, bcl-2, and epithelial membrane antigen. At the time of recurrence, the primary and recurrent tumors were further characterized for genetic and molecular abnormalities. Intriguingly, fluorescence in situ hybridization of the primary tumor revealed rearrangements of both the SS18 and EWSR1 genes. Furthermore, reverse transcriptase-polymerase chain reaction studies of both the primary tumor and the recurrence confirmed the presence of both SS18-SSX2 and EWSR1-NR4A3 (exon 3) gene fusions, characteristic of SS and EMC, respectively. This is the first reported case of a remarkable soft tissue sarcoma that exhibits overlapping morphologic features between SS and EMC and that also harbors a combination of SS18-SSX2 and EWS-NR4A3 gene fusions. This case supports the fact that specific, reproducible gene fusions frequently direct, cooperatively or competitively, basic histogenetic processes to produce tumor phenotypes.

Context.— Detection of urothelial carcinoma by urine cytology can be challenging. Recently, ProEx C has been studied as a marker to improve detection of urothelial carcinoma. ProEx C is an assay targeting expression of topoisomerase II-α and the minichromosome maintenance protein-2 and is used to assist in diagnoses of gynecologic specimens. Objective.— To evaluate the utility of ProEx C and uCyt in atypical urine cytology. Design.— Sixty-eight specimens with a diagnosis of atypical urine cytology, concurrent uCyt testing, and surgical biopsy follow-up were included. Slides were restained with ProEx C. ProEx C was recorded as positive when nuclear staining was seen in at least one morphologically atypical urothelial cell. The uCyt was scored as positive if at least one morphologically atypical urothelial cell showed positive fluorescence staining. Thirteen cases (19%) had benign histologic diagnoses, 18 (26%) had low-grade papillary urothelial carcinoma, and 37 (54%) had high-grade urothelial carcinoma. Results.— The overall sensitivity was 85% for ProEx C, 85% for uCyt, and 93% for the combination of the 2 assays. The overall specificity was 69% for ProEx C, 31% for uCyt, and 23% for the combination of the 2 tests. In predicting high-grade urothelial carcinoma, sensitivity was 92% for ProEx C, 86% for uCyt, and 92% for both tests. In predicting low-grade papillary urothelial carcinoma, sensitivity was best with the combination of the 2 tests at 94%. Conclusion.— ProEx C has superior specificity to uCyt. The combination of the 2 tests yielded high sensitivity not only for high-grade urothelial carcinoma but also for low-grade papillary urothelial carcinoma.

INTRODUCTION: Absolute polymorphonuclear leukocyte (PMN) count (PMN-C) ≥250 cells/mm³ in ascites is the diagnostic hallmark of spontaneous bacterial peritonitis (SBP) and is associated with high morbidity and mortality. However, the clinical significance of ascitic PMN percentage (PMN-%) and PMN-C in the absence of SBP as additional biomarkers for mortality and future incidence of SBP has not been determined. METHODS: This retrospective cohort included adults with cirrhosis undergoing first-recorded paracentesis with initial PMN-C < 250 cells/mm³ at 2 tertiary medical centers between 2015 and 2020. Patients with prior SBP were excluded. Outcomes were death and SBP development. Cox regression estimated hazard ratios (HRs) for risk of death and SBP development and Akaike information criterion to compare model fit. RESULTS: Three hundred eighty-four adults (73% male, median age 58 years, 67% with alcohol-associated cirrhosis, median PMN-C 14 cells/mm³ [interquartile range 5–34], and median PMN-% 10% [interquartile range 4–20]) were included in this study. Univariate risk of death increased 10% per 25-unit increase in PMN-C (95% confidence interval 1.01–1.21, P = 0.03) and 19% per 10-unit increase in PMN-% (95% confidence interval 1.06–1.33, P = 0.003) with PMN-% demonstrating better model fit in assessing mortality risk (Akaike information criterion: 1,044 vs 1,048, respectively). In models adjusted for age, chronic hepatitis C virus infection, and Model for End-Stage Liver Disease-Sodium, PMN-% was associated with risk of death (PMN-% 10%–29%, HR 1.17, P = 0.50; PMN-% ≥ 30% group, HR 1.94, P = 0.03; vs PMN-% < 10%) and SBP development (PMN-% 10%–29%, HR 1.68, P = 0.07; PMN-% ≥ 30%, HR 3.48, P < 0.001; vs PMN-% < 10%). DISCUSSION: Our results suggest PMN-% at first paracentesis represents a better biomarker compared with PMN-C for assessing risk of death and future SBP development in patients with PMN-C < 250 cells/mm³.