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The heterogeneity of soft-tissue neoplasms constantly challenges the diagnostic skills of pathologists. Fine needle aspiration biopsy (FNAB) cytology can provide a quick and relatively safe assessment of soft-tissue masses and can significantly contribute to patient management. This article illustrates the FNAB cytologic features of the most commonly encountered soft tissue lesions and discusses their differential diagnoses.
A case of embryonal rhabdomyosarcoma (RMS) arising from an axillary space is described. RMS is one of the most common soft-tissue neoplasms in children, but adult embryonal RMS is rare. The patient was a 55-year-old man with a tumor of the left axillary area. RMS arising from an axillary area is also uncommon. The histological diagnosis was embryonal RMS. He received irradiation combined with chemotherapy (VAC: VCR, act-D, CPA) for the primary and metastatic lesions, obtained complete remission, and has remained disease-free for over four years as of this report.
OBJECTIVE: To assess the utility of magnetic resonance imaging (MRI) in the investigation of palpable masses in the hand or wrist. DESIGN AND PATIENTS. We retrospectively reviewed the MRI examinations and case records of 134 patients referred because of a palpable mass in the hand or wrist. MRI was performed on a 1.0 T magnet using an extremity coil. Intravenous gadolinium-DTPA was injected when considered appropriate. RESULTS AND CONCLUSIONS: MRI demonstrated the cause of the palpable mass in 126 cases (94.02%). Soft tissue neoplasms were found in 34 cases (25.37%). The majority were benign and included giant cell tumours of tendon sheath, lipomas and hemangiomas and had a characteristic appearance. There were three malignant tumours (myxoid liposarcoma, malignant fibroushistiocytoma and rhabdomyosarcoma). Ganglia were found in 36 cases (26.86%) and non-tumour tendon pathology in 31 cases (23.13%). Less common causes included articular diseases (5.97%) and anatomical variants (4.47%). No focal lesion was present in 8 cases (5.97%). In conclusion, MRI is an accurate diagnostic technique in patients who present with a palpable mass of the hand and wrist.
Malignant fibrous histiocytoma is a frequent diagnosis, but the relationship of the tumors to histologically similar soft tissue neoplasms is controversial. In this study, 157 examples representing the 4 main subtypes were reviewed by light microscopy and each tumor was studied with the electron microscope. Immunohistochemical stains were performed on 77 tumors. Electron micrographs on 100 fibrosarcomas were reviewed for comparison. Malignant fibrous histiocytomas often closely resemble fibrosarcomas at the ultrastructural level and differences between the two are generally of degree only. Evidence for true histiocytic differentiation was not found. The immunohistochemical results did not contradict the authors' impression from electron microscopy that malignant fibrous histiocytoma forms part of the histologic spectrum of tumors of fibroblasts.
Spindle cell lipoma (SCL) is an uncommon soft tissue neoplasm that may provide diagnostic difficulty to the histopathologist. Four retrospectively identified SCLs were evaluated immunohistochemically with a broad panel of antibodies (CD34, factor XIIIa, S-100, actin and factor VIII). All four SCLs were strongly CD34 positive (95 to 100% of cells) and focally factor XIIIa positive (average 16% of cells). Tumor cells were S-100, actin and factor VIII negative. Dermatofibrosarcoma protuberans, neurofibroma, schwannoma and angiolipoma are CD34 positive tumors that have some similar histologic features to SCL and may be considered in the differential diagnosis. Differentiation is possible using a broad panel of immunostains and routine diagnostic criteria.
Soft tissue malignancies are uncommon in adults and even rarer in children. Twelve children presented to the radiology department over a three-year period with a clinical diagnosis of a malignant lower limb mass. This diagnosis was usually based on the presence of a firm, painless mass. However, imaging revealed a heterogeneous group of benign pathologies: haemangioma (two cases), haematoma (two cases), aneurysm (two cases), and one case each of infection, myositis ossificans, Baker's cyst, lipoma, muscle rupture, and venous malformation. During the same period there was only one malignant soft tissue neoplasm. A variety of imaging techniques were used but ultrasound combined with colour flow Doppler was the single most helpful modality. The radiological diagnosis were confirmed by biopsy, surgery or clinical follow-up.
Haemangiopericytoma (HPC) was described in 1942 by Stout and Murray as a distinctive soft tissue neoplasm, presumably of pericytic origin, exhibiting a characteristic well-developed "staghorn" branching vascular pattern. Over the years, it appeared that this growth pattern was a non-specific one, shared by numerous, unrelated benign and malignant lesions, and that HPC was better considered as a diagnosis of exclusion. Three categories of lesion may now be individualized within the heterogeneous group of HPC-like neoplasms. The first category corresponds to those non-HPC neoplasms that occasionally display HPC-like features (e.g. synovial sarcoma). Lesions belonging to the second category show clear evidence of myoid/pericytic differentiation and correspond to true HPCs. They generally show a benign clinical course, and include glomangiopericytoma/myopericytoma, infantile myofibromatosis (previously called infantile HPC), and a subset of sinonasal HPCs. The third category is the solitary fibrous tumour (SFT) lesional group, which includes fibrous-to-cellular SFTs, and related lesions such as giant cell angiofibromas and lipomatous HPCs. In practice, any HPC-like lesion can be allocated to one of these categories, leaving the ill-defined "haemangiopericytoma" category empty.
Epithelioid sarcoma (ES) is a musculoskeletal malignant tumor with epithelioid appearance. It is a relatively rare soft tissue neoplasm, the histological diagnosis of which is difficult and the histogenesis is still obscure. Like many other musculoskeletal tumors, according to the literature, ES has no useful tumor marker to be monitored in the serum. We experienced two ES patients with elevated serum CA125 level. One patient was a 29-year-old woman with ES in her pubic area and the other a 26-year-old man with a tumor in his right calf. Laboratory examination revealed that the CA125 values of both patients were high and changed in accordance with the progress of the tumor growth. An immunohistochemical study demonstrated that the tumor cells in both cases expressed CA125. These results suggest that CA125 can be used as a useful tumor marker for diagnosing and monitoring tumor progress.
Cytogenetic analysis was performed on a primary tumor and a metastatic lesion of a clear cell sarcoma of tendons and aponeuroses (CCS), a rare soft tissue neoplasm of uncertain histopathologic origin. Clonal chromosomal abnormalities resulting in two related clones were found in both tumors. The karyotype was near-triploid with several structural and numerical changes, comprising a der(15;22) (q10;q10). Including the present case, 14 of 15 cases of CCS have had structural or numerical aberrations of chromosome 22 and nine of them (65%) displayed a similar or identical t(12;22)(q13-14;q12-13). Our findings suggest that in the absence of specific t(12;22), other abnormalities of chromosome 22 may be significant. In addition, increased doses of chromosome 8 found in 70% of the tumors strongly suggest a significant role for this chromosome in the development of clear cell sarcoma.
Malignant mesenchymoma is a rare soft tissue neoplasm which, by definition, shows at least two distinct types of frankly malignant mesenchymal differentiation in addition to any "undifferentiated" or "fibrosarcomatous" areas. It is generally regarded as a high-grade tumor. A series of nine new cases is presented in which all patients except one were adults. Four tumors arose in the retroperitoneum, three in the thigh. The only definable constituents were rhabdomyosarcoma (eight cases), liposarcoma (seven cases), and osteo/chondrosarcoma (five cases). On histologic grounds, at least one element in each case would normally be regarded as high grade. Of six cases with a median follow-up of 4.2 years, only one has died from tumor. One further case was an incidental postmortem finding. In contrast to most current opinion, these data suggest that malignant mesenchymoma is not as aggressive as the histology would imply.
Low-grade fibromyxoid sarcomas are uncommon deep soft tissue neoplasms first described by Evans in 1987. They exhibit a deceptively benign appearance, with a whorled or linear arrangement of spindle-shaped cells showing few to absent mitoses. A characteristic, but not specific, feature is the presence of areas of myxoid stroma. Recurrences are common, and late metastases have been recorded. A closely related but morphologically distinct tumor, the so-called hyalinizing spindle cell tumor with giant rosettes, has also been described; both neoplasms share the same cytogenetic abnormality, a balanced translocation resulting in a FUS/CREB3L2 fusion gene. Because of similar clinical behavior and the common cytogenetic abnormality, some authors prefer to consider both lesions as a single entity within the spectrum of low-grade sarcomas.
Connective tissue tumours represent a significant group among biopsied skin lesions and manifest a wide range of morphological patterns. While the majority are easily diagnosed, notably most fibrous histiocytomas and neural lesions, a proportion pose considerable diagnostic difficulty. With the increasing recognition and characterisation of previously undescribed entities within the family of soft tissue tumours in recent years, the number of unclassifiable lesions should diminish. The ultimate aim of accurate recognition and classification is to provide appropriate clinical care based on reasoned prediction of a given lesion's behaviour. With this in mind, we wish to briefly review herein some of the more recently characterised dermal connective tissue lesions, including plexiform fibrohistiocytic tumour, cellular fibrous histiocytoma, spindle celled atypical fibroxanthoma, adult myofibroma, dermatomyofibroma, so-called cellular neurothekeoma, ectopic meningothelial hamartoma, tufted angioma, sinusoidal haemangioma and bacillary angiomatosis.
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Lipomas are very common benign soft tissue neoplasms. They are usually slow-growing and may occur anywhere in the body. Mature cartilage and bone arising in a lipoma is a rare event and is mostly associated with a parosteal localization of the neoplasm. We describe a new case of osteochondrolipoma showing not only major adipocytic differentiation but also areas of fibrocytic and cartilaginous cell differentiation and bone formation (both endochondral and membranous). The occurrence of at least 4 distinct directions of mesenchymal cell differentiation within a benign neoplasia underlines the concept of multilineage differentiation of pluripotent mesenchymal stem cells. Such a multidirectional potential was recently well established in vitro in stem cells present in adult adipocytic tissue.
AIMS: To describe 13 new cases of a rare soft tissue neoplasm currently known as haemosiderotic fibrohistiocytic lipomatous tumour (HFHLL) and to further its characterization. METHODS AND RESULTS: Patients were eight females and five males, aged 8 months to 74 years. Lesions ranged in size from 10 to 130 mm (median 45). Twelve of 13 lesions were located in the ankle/foot region; one involved the hand. Grossly the lesions were fatty/gelatinous or lipoma-like. They were characterized by varying proportions of mature adipocytes and fibroblastic spindle cells, associated with haemosiderin pigment present predominantly in macrophages within the spindle cell component. Dissecting between adipocytic lobules were septa containing short spindle cells with streaming, swirling or honeycomb growth patterns. Most tumours contained scattered osteoclast-like giant cells. Mitoses were rare and only one case showed mild atypia. Immunohistochemistry in 10 cases showed 7/9 CD34+; all were negative for smooth muscle actin, CD68, S100 and desmin. Follow-up in nine cases ranging from 1 to 130 months (median 12) showed local recurrence in three but no metastasis. CONCLUSIONS: So-called HFHLL, better termed haemosiderotic fibrolipomatous tumour, is a distinct lesion characterized by an admixture of fibroblastic spindle cells, mature adipocytes and haemosiderin pigmentation, shows a predilection for the distal extremities and quite often recurs locally.
An example of a plexiform fibrohistiocytic tumour (PFT) is presented for the first time in the German-language literature. The diagnostic criteria for this rare soft-tissue neoplasm of childhood and young adulthood, which is mostly subcutaneous in location and has a tendency to recur, include the plexiform structure which gives it its name, extensive siderin deposits and numerous osteoclast-like giant cells. The development of the tumour described here, which occurred in the field of radiation of a malignant haemangiopericytoma excised 7 years previously, indicates the possibility of induction of PFT by radiation.
Soft tissue tumors commonly show cytogenetic abnormalities, some of which are tumor specific. Lipomatous tumors represent the largest category of soft tissue neoplasms, and numerous karyotypic aberrations have been identified. However, clear-cut correlation between morphology and karyotype has not been undertaken on a systematic basis in a double-blind setting. The morphological features and histological diagnosis of 178 lipomatous neoplasms were reviewed independently without knowledge of the clinical data. The consensus diagnoses were then correlated with the clinical findings and compared with the tumors' karyotypes, using G-banded preparations from short-term cultures. The data were collated by a multicenter collaborative group of pathologists, geneticists, and surgeons. Clonal chromosomal abnormalities were identified in 149 cases studied (84%) and, to a large extent, the karyotype correlated with the morphological diagnosis. Specifically, 26 (96%) of 27 myxoid liposarcomas and its poorly differentiated variants showed a t(12;16); 29 (78%) of 37 atypical lipomatous tumors (including 5 dedifferentiated cases) showed ring chromosomes; 74 (80%) of 93 subcutaneous and intramuscular lipomas had karyotypic aberrations affecting mainly 12q, 6p, and 13q; 7 of 8 spindle cell and pleomorphic lipomas had aberrations of 16q; 3 lipoblastomas showed 8q rearrangements; and 2 hibernomas showed 11q abnormalities. We conclude that cytogenetic abnormalities are common in lipomatous tumors, correlate reliably with morphological sub-type in many cases, and can be of diagnostic value in histologically borderline or difficult cases.
Giant cell fibroblastoma is an uncommon soft tissue neoplasm occurring in childhood. It appears to be the juvenile form of dermatofibrosarcoma protuberans, with which it shares some histologic, cytogenetic, and immunohistochemical features. We report, to our knowledge, the second description of the cytologic features of giant cell fibroblastoma. The present case represents a recurrent lesion in the soft tissues of the scrotum of a 17-yr-old male. The aspirate produced moderately cellular smears containing mononuclear cells, usually lying singly, but occasionally forming clusters. The majority of the individual cells possessed scanty bipolar cytoplasm or were devoid of cytoplasm. The nuclei were bland, with small nucleoli. Nuclear membranes frequently contained notches, creases, or folds. Small fragments of metachromatic stroma were present in the background and were often associated with small aggregates of cells. Rare multinucleated giant cells containing bland oval or basillary-shaped nuclei were admixed with the spindle-cell component. Necrosis and mitotic figures were not a component of the smears. Surgical resection of the mass confirmed the diagnosis of giant cell fibroblastoma. We review the characteristic cytologic features of giant cell fibroblastoma and compare them with other soft tissue tumors in the differential diagnosis.