No abstract

Deep fibromatoses (desmoid tumors) are clonal myofibroblastic proliferations that are prone to aggressive local recurrences but that do not metastasize. They must be distinguished from a host of fibroblastic and myofibroblastic lesions as well as from smooth muscle neoplasms. Virtually all deep fibromatoses have somatic beta-catenin or adenomatous polyposis coli (APC) gene mutations leading to intranuclear accumulation of beta-catenin. Since low-grade sarcomas in general lack beta-catenin and since reactive proliferations would not be expected to have it, we predicted that nuclear beta-catenin expression would be detected in deep fibromatoses but absent in other entities in the differential diagnosis. We evaluated the role of beta-catenin to help differentiate distinguish deep fibromatoses from congeners. Formalin-fixed, paraffin-embedded sections from 21 lesions from 20 patients with deep fibromatoses were stained with monoclonal beta-catenin antibody (Transduction Laboratories) and compared with low-grade fibromyxoid sarcoma (n=12), leiomyosarcoma (n=10), various other fibrosarcoma variants (n=13, including 3 myofibrosarcomas, 3 sclerosing epithelioid fibrosarcomas, 5 low-grade fibrosarcomas, 1 classic fibrosarcoma arising in dermatofibrosarcoma protuberans, 1 inflammatory myxohyaline tumor/myxoinflammatory fibroblastic sarcoma), myofibroma/myofibromatosis (n=12), nodular fasciitis (n=11), and scars (n=9). Nuclear and cytoplasmic staining was assessed. All 21 examples of deep fibromatosis displayed nuclear beta-catenin (focal nuclear staining in one case to 90% staining). All other lesions tested (n=67) lacked nuclear labeling for beta-catenin, showing only cytoplasmic accumulation. beta-Catenin immunohistochemistry separates deep fibromatosis from entities in the differential diagnosis, a finding that can be exploited for diagnosis. Most fibromatoses have diffuse nuclear staining although occasional examples only focally label.

Hibernoma, an uncommon tumor of brown fat, has been described only in a few case reports and small series. The authors reviewed 170 cases of hibernoma and evaluated the morphologic features and the behavior of this tumor. The records from the Soft Tissue Registry of the Armed Forces Institute of Pathology from 1970 were searched for cases coded as "hibernoma." Clinical information and available slides from 170 hibernomas were reviewed. Immunohistochemical staining for S-100 and CD34 was performed on select cases. Follow-up information was obtained from the patients' medical records, the patients' physicians, and the patients themselves. Of 170 patients with hibernoma, 99 were men and 71 were women. The tumor occurred most commonly in adults, with a mean age of 38.0 years (age range, 2-75 years). Nine tumors occurred in pediatric patients. The most common anatomic locations included the thigh (n = 50), shoulder (n = 20), back (n = 17), neck (n = 16), chest (n = 11), arm (n = 11), and abdominal cavity/retroperitoneum (n = 10). The average duration of the tumor was 30.6 months. Tumor size ranged from 1 to 24 cm with an average dimension of 9.3 cm. All tumors were composed partly or principally of coarsely multivacuolated fat cells with small, central nuclei and no atypia. Four morphologic variants of hibernoma were identified: typical, myxoid, spindle cell, and lipoma-like. "Typical" hibernoma (n = 140) included eosinophilic cell, pale cell, and mixed cell types based on the tinctorial quality of the hibernoma cells. The myxoid variant (n = 14) contained a loose basophilic matrix. Spindle cell hibernoma (n = 4) had features of spindle cell lipoma and hibernoma; all occurred in the neck or scalp. The lipoma-like variant (n = 12) contained only scattered hibernoma cells. Immunohistochemically, 17 of 20 cases (85%) were positive for S-100 protein. Only one hibernoma of 20, a spindle cell variant, was positive for CD34, whereas other hibernoma variants were negative. Follow-up was obtained for 66 cases (39%) over a mean period of 7.7 years (range, 6 months-28 years). None of the patients with follow-up had a recurrence or metastasis, including eight with intramuscular tumors. No patient died of disease. Hibernoma is a tumor found most often in adults and most commonly in the thigh, with several morphologic variants. It is a benign tumor that does not recur with complete excision. Hibernomas should not be confused with atypical lipomas or well-differentiated liposarcoma.

Pleomorphic rhabdomyosarcoma (PRMS) is a rare and controversial tumor of skeletal muscle phenotype. Diagnostic criteria for PRMS by combined histology and currently available immunohistochemistry have not been clearly defined. We report 38 pleomorphic rhabdomyosarcomas in adults, explore morphologic variants, and discuss our experience with both specific and nonspecific skeletal muscle markers in these tumors. Clinical data, morphology, and immunohistochemistry were reviewed. Electron microscopy was performed. Of 38 cases, there were 28 males and 10 females. Patient ages ranged from 21 to 81 years (median ‫؍‬ 54 y; mean ‫؍‬ 51 y). Tumors were located in the lower extremity (n ‫؍‬ 18), abdomen/retroperitoneum (n ‫؍‬ 6), chest/abdominal wall (n ‫؍‬ 5), spermatic cord/ testes (n ‫؍‬ 4), upper extremity (n ‫؍‬ 3), and one each in the mouth and orbit. Tumor sizes ranged from 1.5 to 15.0 cm (mean ‫؍‬ 7.3 cm; median ‫؍‬ 6.8 cm). The cases were divided into three variants, each with large, atypical, pleomorphic polygonal rhabdomyoblasts (PRMB) with abundant eosinophilic cytoplasm in varying numbers and different morphologic backgrounds of round or spindled rhabdomyoblasts (RMB). , fast skeletal muscle myosin, or myf4). In addition, all cases had some positivity for nonspecific muscle markers (desmin, MSA, SMA, myf3). Electron microscopy (EM), performed on eight selected cases from all three morphologic groups, demonstrated definitive skeletal muscle differentiation in all cases. Follow-up, available on 30 (79%) cases, revealed that 70% of patients died of disease (mean 20 months, range 1 month-108 months), 3% were alive with disease at 12 months (n ‫؍‬ 1); and 27% had no evidence of disease (mean, 83 mo; range, 18 to 108 mo). PRMS, a tumor of predominantly middle-aged adult males in the lower extremity, can be diagnosed by the morphologic presence of scattered PRMB with immunohistochemical evidence of at least one skeletal muscle-specific marker. There are three morphologic variants of PRMS. The appropriate diagnosis of PRMS is significant as it is a high-grade sarcoma, with an aggressive clinical course.