Deep fibrous histiocytoma with a clonal karyotypic alteration: molecular cytogenetic characterization of a t(16;17)(p13.3;q21.3)

Deep fibrous histiocytoma, a rare lesion occuring in deep soft tissues, has recently been formally characterized as a diagnostically distinguishable variant of the benign fibrous histiocytoma spectrum with distinct morphological features. Nevertheless, because of the small number of cases published, information on their clinical behavior, including propensity for local recurrence and metastasis, is quite limited, and no molecular genetic or cytogenetic data are available. We report a 46,XY,t(16;17)(p13.3;q21.3) karyotype in a deep fibrous histiocytoma. Fluorescence in situ hybridization using bacterial artificial chromosome (BAC) clones refined the translocation breakpoints within 119.9 kb at 16p13.3 and 214 kb at 17q21.3. Moreover, to ascertain whether they may be nonrandomly involved in changes in this rare tumor type, we designed two dual-color break-apart probes with BAC clones, mapping proximally and distally to the two breakpoints, to be tested in additional archival cases by interphase fluorescence in situ hybridization. No break-apart signals were observed in the six additional cases studied, indicating either that the translocation is sporadic or that it is rare in deep fibrous histiocytoma. In conclusion, our data show that chromosome aberrations may be found in deep fibrous histiocytoma and that, as with cutaneous lesions, they may have clonal, at present nonrecurrent, chromosome changes.     

Benign fibrous histiocytoma of the fronto-temporo-parietal region: a case report and review of the literature

Primary benign fibrous histiocytoma (BFH) at the skull is extremely rare. Here we report a case of a 22-year-old man presented with a 1-year history of progressive enlargement subcutaneous mass on the right side of the fronto-temporo-parietal region without symptoms. The tumor was radical resected through craniotomy and the bone defect was repaired by pre-plasticity titanium mesh. Histopathologic examination confirmed a benign fibrous histiocytoma, and no signs of tumor recurrence were detected at 3-year follow-up.     

p53 gene mutation and MDM2 overexpression in a case of primary malignant fibrous histiocytoma of the jejunum

Primary malignant fibrous histiocytoma of the gastrointestinal tract is extremely rare. To date, only 10 cases of primary malignant fibrous histiocytoma arising in the small intestine have been reported in the English literature. We describe here the genetic alterations and morphologic features of a primary malignant fibrous histiocytoma arising in the jejunum. Immunohistochemically, the tumor cells expressed vimentin, CD68 and alpha-1-antitrypsin, but were negative for other markers. Ultrastructurally, they showed features of fibroblasts and histiocytes. Immunohistochemical overexpression of p53 and MDM2 was observed. Mutation analysis of the p53 gene detected a missense mutation in codon 158 of exon 5. Our results suggest that p53 gene mutations and MDM2 overexpression may play an important role in the tumorigenesis. To our knowledge, the present report is the first genetic study of this rare lesion.     

Palisading subcutaneous fibrous histiocytoma

A case of palisading subcutaneous fibrous histiocytoma, a very rare variant of fibrous histiocytoma (dermatofibroma), arising in the wrist of a 41-year-old man is presented. An unencapsulated subcutaneous tumor measuring 0.8 x 0.8 x 0.7 cm was histologically characterized by predominant nuclear palisading and a peripheral area with a pattern quite characteristic of conventional fibrous histiocytoma. Immunohistochemically, the tumor cells were strongly positive for vimentin, alpha-smooth muscle, and muscle actin, but negative for S-100 protein, indicating a fibroblastic or myofibroblastic nature. The patient has been well without recurrence for 6 years and 8 months after the excision. This neoplasm should be differentiated from benign and malignant skin or soft tissue tumors with a palisading pattern. Pathologists and clinicians should know of the existence of this type of fibrous histiocytoma and should avoid overdiagnosis and overtreatment.     

Primary pleomorphic malignant fibrous histiocytoma of the heart

Primary pleomorphic malignant fibrous histiocytoma of the heart is rare. The present study was performed to study the clinical and pathological features of the disease. We describe two rare cases of primary cardiac malignant fibrous histiocytoma and review the published individual data of the patients. Both patients complained of dyspnea, and underwent palliative tumor resection. However, they died several months after surgery. A thorough literature review with clinical presentations, diagnostic features, treatment, and outcomes was done. We have for the first time analyzed the factors related to the survival of malignant fibrous histiocytoma. It is usually difficult to make an appropriate preoperative diagnosis. Despite complete surgical resection and aggressive chemotherapy and radiotherapy, the prognosis is still poor.     

Atypical fibrous histiocytoma of the scrotum

Atypical fibrous histiocytoma is a rare neoplasm. A scrotal location for this tumor is even more unusual. We report a case of a 90-year-old man with scrotal atypical fibrous histiocytoma. Our case had histologic features consistent with those cases previously reported in the literature. The tumor consists of cells with large hyperchromatic irregular nuclei, bizarre multinucleated cells (monster cells), and xanthomatous cells with large prominent nuclei set in a background of classic fibrous histiocytoma. Rare mitotic figures are identified. Immunohistochemical studies showed the tumor cells to be positive for vimentin, smooth muscle actin, desmin, KP-1, factor XIIIa, and MIB-1 (less than 10%). In addition to the expected immunohistochemical studies, the tumor stained diffusely positive for CD117. To our knowledge, this is the first report of atypical fibrous histiocytoma of the scrotum.     

Fine-needle aspiration of primary and recurrent dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is a nodular cutaneous mesenchymal tumor of intermediate malignancy. Studies on fine-needle aspiration of DFSP are extremely rare; to our knowledge, only 33 cases have been reported. We have reviewed 14 examples of DFSP in 13 patients. Ten primary tumors were aspirated before surgical biopsy and four recurrent lesions (all from superficial lesions) were also investigated by fine-needle aspiration. All smears were surprisingly homogeneous and composed of isolated spindle cells in all cases (one unsatisfactory smear is excluded). Tissue fragments with a stroriform pattern were seen in 11 cases, fibrillary stromal fragments in 10 cases, naked nuclei in 8 cases, slight to moderate cytonuclear atypia in 5 cases. Mitotic figures, myxoid background, mast cells, and dispersed adipocytes were rare. Giant cells, necrosis, or marked cytonuclear atypia were not seen. DFSP shares morphological characteristics of some low-grade spindle-cell neoplasms. It should be differentiated from other benign low- and intermediate-grade spindle neoplasm such as low-grade fibrosarcoma, fibromyxosarcoma, low-grade malignant peripheral nerve sheath tumor, benign peripheral nerve sheath tumor, nodular fasciitis, and fibrous histiocytoma.     

Fibrous histiocytoma of the orbit. A clinicopathologic study of 150 cases

This is a clinicopathologic study of 150 cases of fibrous histiocytoma of the orbit. The tumors occurred in adults (median age, 43 years). The upper and nasal portions of the orbit were the most common sites of involvement. The most common signs and symptoms were proptosis (60 per cent), mass (46 per cent), and decreased vision (25 per cent). Based on the histopathologic features, the tumors were classified in three groups: benign (94 cases), locally aggressive (39 cases), and malignant (17 cases). The biological behavior correlated well with the duration of symptoms, the size and margins of the mass, and the histologic classification. The rate of recurrence was 31 per cent for the benign tumors, 57 per cent for the locally aggressive tumors, and 64 per cent for the malignant tumors. Follow-up data were obtained for 123 patients, with a mean duration of seven years. The ten-year survival of patients with benign, locally aggressive, and malignant fibrous histiocytoma was 100 per cent, 92 per cent, and 23 per cent, respectively. Nine patients died as a result of the tumor, six from local invasion of adjacent structures and three from metastatic disease. Fibrous histiocytoma is the most common primary mesenchymal orbital tumor of adults. The origin of the neoplasm is probably a primitive mesenchymal cell. Complete surgical excision appears to be the treatment of choice.     

Intra-articular benign fibrous histiocytoma in the knee joint

We report a rare case of benign fibrous histiocytoma presenting as an intra-articular tumor in the knee joint causing pain and limitation of movements. This is the first case reported with no attachment to tendinous or ligamentous structures.     

Malignant fibrous histiocytoma of the esophagus

A 78-year-old man presented with an esophageal polyp that was confirmed by Immunohistochemistry and electron microscopy to be malignant fibrous histiocytoma. The tumor was comprised of a proliferation of spindle-shaped cells admixed with bizarre giant cells. These tumor cells were immunoreactive for smooth muscle actin, vimentin, α-1-arrti-chymotrypsin and CD68. Electron microscopic examination revealed the myoflbroblastic and histtocytic features of the tumor cells. No elements of epithelial or myogenic differentiation were found in the tumor. Malignant fibrous histiocytoma of the esophagus is extremely rare, with 10 cases being documented so far in the literature. The differential diagnosis of pteomorphic tumors of the esophagus is discussed.     

Fine needle aspiration of pleomorphic lipoma of the neck: Report of two cases

Pleomorphic lipoma is a rare lipocytic neoplasm that most commonly occurs in the head and neck region in middle‐aged to elderly men. Clinically, it presents as a slow‐growing, wellcircumscribed subcutaneous mass. Histopathologically and cytogenetically, it has some features overlapping with other benign and malignant tumors, such as benign spindle cell lipoma, atypical lipomatous tumor, liposarcoma, and malignant fibrous histiocytoma. However, cure rates are high when pleomorphic lipoma is treated with complete surgical excision with clear margins. Therefore, an accurate preoperative diagnosis is very important for proper treatment. Due to the rarity of this tumor, few cases diagnosed by cytology have been reported in the English literature. Here, we report two cases of pleomorphic lipoma, the diagnoses of which were suggested on fine needle aspiration biopsies and subsequently confirmed by surgical excisions. Diagn. Cytopathol. 2010. © 2009 Wiley‐Liss, Inc.     

Malignant fibrous histiocytoma of bone and osteosarcoma. A comparative light and electron microscopic study.

Malignant fibrous histiocytomas are well-described tumors of the soft tissues. Recent investigations have shown that malignant histiocytoma may also occur as a primary bone tumor. However, difficulties may arise to distinguish malignant histiocytoma of bone from other malignant bone tumors, such as osteosarcoma. In the present study, the ultrastructure of five cases of malignant fibrous histiocytoma of bone is compared with that of osteosarcoma. The results show that malignant fibrous histiocytoma is composed mainly of histiocytic cells and fibroblastic cells. In addition, xanthomatous cells, undifferentiated cells, and giant cells may be observed. By contrast, the predominant cell type in osteosarcoma is the neoplastic osteoblast, characterized by abundant rough endoplasmic reticulum. Signs of matrix calcification in the intercellular matrix between the collagen fibrils are regularly observed in osteosarcoma, but not in malignant histiocytoma. From these results it is concluded that the ultrastructure of malignant fibrous histiocytoma arising in bone is morphologically identical with the soft tissue counterpart of this tumor. The components of the tumor are derived from neoplastic histiocytes. This cytogenesis differs from that of osteosarcoma, which is derived from neoplastic osteoblasts. Therefore, from the ultrastructural point of view, malignant fibrous histiocytoma of bone should be accepted as a distinct histologic entity among bone tumors.     

Benign fibrous histiocytoma of the skin. A morphologic study of 290 cases

Two hundred and ninety cases of benign fibrous histiocytoma of the skin are reviewed. Their frequency, distribution according to age, sex and sites, and the architectural and cytological features of the tumors are analyzed. Ninety two cases (31,7%) were male and 198 cases (68,3%) were female. The tumors were most frequently found between second and fourth decades and located mainly in the extremities. Twenty three cases were clinically diagnosed as malignant tumors. Five cytological patterns of benign fibrous histiocytoma of the skin are described: fibrous, vascular, xanthomatous, pleomorphic and giant cell histiocytoma. Their probable histogenesis and the spectrum of morphological variants are discussed.     

Malignant fibrous histiocytoma of the right ventricle of the heart

Right-sided cardiac malignant fibrous histiocytoma (MFH) is extremely rare, and to the authors' knowledge only three cases have been reported. In this study, a case of MFH in the right ventricle, the septum, and the pulmonary valves and artery in a 47 year old male is described. The tumor showed typical pathological features of MFH, such as cellular pleo-morphism, storiform pattern and abundant mitoses. Immu-nohistochemical and electron microscopical findings were compatible with MFH, and excluded the possibility of leio-myosarcoma and angiosarcoma. Whole body examination, including Gallium scintigram, localized the primary site to the heart. The details of this case are presented with a review of the reported cases of cardiac MFH.     

Intrasellar pituicytoma in a patient with other endocrine neoplasms

Considered a neoplasm of pituicytes, pituicytoma is a rare and distinct type of glioma that arises in the suprasellar space and within the sella turcica. Only 12 previously reported cases of pituicytoma are documented in the literature. We report an intrasellar pituicytoma in a 66-year-old man presenting with symptoms and radiologic appearance indistinguishable from a nonfunctional pituitary adenoma. The patient also had a medical history significant for parathyroid adenomas and follicular carcinoma of the thyroid. The intrasellar tumor had morphologic features of a pituicytoma, with interlacing fascicles and a storiform pattern much like a benign fibrous histiocytoma. Immunoreactivity for S100 was strong, but the tumor lacked intercellular collagen type IV. The differential diagnosis of a low-grade spindle cell lesion of the sellar space is discussed, and the literature is reviewed. A summary of the clinical and pathologic features of this case, as well as the 12 previously reported cases, is presented.     

Report of an angiosarcoma mimic: cutaneous aneurysmal fibrous histiocytoma

Aneurysmal fibrous histiocytoma is an unusual variant of the spectrum of fibrous histiocytomas with the peculiar morphologic appearance of a benign aneurysmal vasoformative process that ultimately culminates in multiple microhemorrhages within the tumor. It looks strikingly different from the usual cutaneous lesions encountered in clinical dermatology practice. A single report of a cutaneous aneurysmal fibrous histiocytoma in the skin of the back of a 60-year-old male is described with emphasis on the immunostaining pattern and review of the literature. There is a significant potential for confusion of this lesion with other cutaneous lesions, clinically as well as pathologically. In our case, the patient presented with a lesion that clinically resembled a hemangioma, was pathologically interpreted initially to be an angiosarcoma, and finally, the revised pathology was interpreted as an aneurysmal variant of a fibrous histiocytoma. Caution is warranted to avoid misinterpretation of cutaneous fibrohistiocytic tumors.     

Primary malignant fibrous histiocytoma of the kidney

Primary renal malignant fibrous histiocytoma is a rare tumor of the kidney. It is clinically and radiologically indistinguishable from a renal cell carcinoma. Even following radical surgery, the tumor shows a strong predilection for local recurrence and the prognosis is generally poor. We report on a 32-year-old man with malignant fibrous histiocytoma of the kidney who remained free of recurrence for 1 year after radical nephrectomy.     

Atypical ''pseudosarcomatous'' variant of cutaneous benign fibrous histiocytoma: report of eight cases

Eight cases of benign cutaneous fibrous histiocytoma containing scattered, bizarre, pleomorphic cells of multinucleate or histiocyte-like type are described. All arose in adults and four had originally been diagnosed as sarcomas. Lesions of this type are not well-known and merit wider recognition in order to avoid inappropriate treatment. Differential diagnosis principally includes atypical fibroxanthoma and pleomorphic malignant fibrous histiocytoma.     

Acute Myopathy Associated with Chronic Licorice Ingestion: Reversible Loss of Myoadenylate Deaminase Activity

A case of recurrent soft part sarcoma with focal areas showing epithelial differentiation in the right thigh in a 78-year-old woman is reported. The primary tumor consisted of myxoid areas and solid areas, in which relatively uniform epithelioid tumor cells were arranged in sheets, whereas pleomor-phism and a storiform pattern appeared in the recurrent tumors. Thus this tumor was suspected to be a malignant fibrous histiocytoma. However, further studies showed unexpected ultrastructural and immunohistochemical features. Cytokeratin immu-noreactivity and tonofilamentlike structures probably indicated epithelial differentiation of some tumor cells. From the clinical and histological findings, this tumor should be identified as a malignant fibrous histiocytoma with phenotypic expressions of epithelial cell.