Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029463 (osteosarcoma)
 16,637 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ossifying fibromyxoid tumour of soft parts (OFMT) is a recently described soft tissue tumour. Although rare it deserves recognition as a locally invasive but essentially benign neoplasm. Prior to its description in 1989 by Enzinger, ossifying fibromyxoid tumours of soft parts were classified as a wide variety of lesions, ranging from nodular fasciitis to osteosarcoma. We report a typical case of such a tumour and review current knowledge of this distinct neoplasm.
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PMID:Ossifying fibromyxoid tumour of soft parts. 930

With the aim of identifying objective cytogenetic-morphologic correlations, we evaluated 46 pleomorphic soft tissue sarcomas (mainly diagnosed originally as malignant fibrous histiocytomas) with clonal chromosome aberrations both cytogenetically and morphologically as part of an international collaborative study. By detailed histopathologic examination, most cases could be categorized into specific tumor types. Eight sarcomas were diagnosed as lipogenic (4 pleomorphic, 1 combined pleomorphic and myxoid/round cell, and 3 dedifferentiated liposarcomas), 19 as myogenic [11 leiomyosarcomas, 1 rhabdomyosarcoma, 4 myosarcomas not otherwise specified (NOS), and 3 probable myosarcomas NOS], 8 as myxofibrosarcomas, 1 as a malignant peripheral nerve sheath tumor, 1 as malignant mesenchymoma, 1 as extraskeletal osteosarcoma, I as sarcoma resembling proliferative fasciitis, and 7 as pleomorphic sarcomas NOS. In a three-grade system, 10 tumors were grade 2 and 36 were grade 3. The majority had highly complex karyotypes. A total of 24 recurrent abnormalities (defined by their presence in at least five cases) were detected: ring chromosomes, homogeneously staining regions (hsr) and/or double minute chromosomes (dmin), and structural rearrangement of 22 different chromosome bands or regions. The frequency and distribution of the recurrent karyotypic features were uneven. Grade 3 tumors displayed, on average, more aberrations per case than did grade 2 tumors. Nine of the selected abnormalities, including hsr/dmin and rearrangements of 19p13 and 19q13, were found only among the high-grade tumors. When the tumors were subdivided according to lineage of differentiation, the highest frequency of aberrations was seen in pleomorphic sarcomas NOS, followed by myxofibrosarcomas, myogenic sarcomas, and lipogenic sarcomas. None of the selected rearrangements was, however, specific for any of these subgroups. The sole consistent cytogenetic-morphologic association was that all three dedifferentiated liposarcomas had multiple abnormal clones, at least one of which contained supernumerary ring chromosomes. Due mainly to karyotype complexity, it therefore seems unlikely that cytogenetic analysis can assist in the differential diagnostic subclassification of pleomorphic sarcomas, nor was there any clear-cut indication that the karyotypic picture could be used to predict clinical outcome. Although the mean number of recurrent chromosome aberrations was almost twice as high in sarcomas that gave rise to metastases as among those that did not, no particular aberration was restricted to either of the two subgroups.
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PMID:Cytogenetic analysis of 46 pleomorphic soft tissue sarcomas and correlation with morphologic and clinical features: a report of the CHAMP Study Group. Chromosomes and MorPhology. 959 30

The use of fine-needle aspiration biopsy (FNAB) in the initial evaluation of pediatric bone and soft tissue tumors is controversial, especially for those patients being considered for histiogenetic-specific therapeutic protocols, e.g., the Intergroup Rhabdomyosarcoma Study Group, the Pediatric Oncology Group. We retrospectively reviewed 33 consecutive FNAB specimens (28 primary tumors, 5 metastases) from 32 pediatric patients (< or = 19 yr of age), none of whom had a previously established tumor diagnosis. In one patient, FNAB of the primary tumor and a presumed axillary metastasis were obtained concomitantly. The cytomorphologic analysis included osteosarcoma, eight patients; rhabdomyosarcoma, five; neuroblastoma, five; Ewing's sarcoma/primitive neuroectodermal tumor, four; Langerhans' cell histiocytosis, three; and one each synovial sarcoma, undifferentiated sarcoma, infantile myofibromatosis, fibroma, chondroblastoma, chondromyxoid fibroma, and desmoplastic small round-cell tumor. Ancillary studies, e.g., immunocytochemical analysis, were used in 13 cases. Cytogenetic analysis helped to confirm one Ewing's sarcoma [t (11;22) (q24;q12)] and one synovial sarcoma [t(X;18) (p11;q11)]. With adequate FNAB specimens, a histogenetic-specific diagnosis was rendered in 27 (93%) of 29 cases, and all were correctly recognized as either benign or malignant. One case each of Langerhans' cell histiocytosis, chondroblastoma, and infantile myofibromatosis yielded unsatisfactory specimens. Fibroma and desmoplastic small round-cell tumor were initially misclassified as nodular fasciitis and rhabdomyosarcoma, respectively. Of 18 patients clinically eligible for histogenetic-specific therapy protocols, an accurate diagnosis was obtained in 17 patients. With a multidisciplinary approach and judicious use of ancillary studies, FNAB represents a highly accurate and cost-effective technique for the diagnosis of pediatric bone and soft tissue tumors, especially sarcomas, and should be considered as a viable diagnostic technique for pediatric therapeutic protocols.
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PMID:The role of fine-needle aspiration biopsy in the initial diagnosis of pediatric bone and soft tissue tumors: an institutional experience. 979 16

Heterotopic mesenteric ossification (HMO) is a rare intraabdominal bone-producing pseudosarcoma with fewer than 14 reported cases in the literature. We report our experience with 6 additional cases, all of which were referred to us with a diagnostic consideration of extraskeletal osteosarcoma (EO) or "sarcoma" and emphasize features which distinguish HMO from EO. Six intraabdominal lesions coded as "heterotopic mesenteric ossification," "ossifying pseudotumor," or "reactive myofibroblastic proliferation with ossification" were retrieved from our consultation files. Clinical follow-up information was obtained. Lesions occurred exclusively in males, with a mean patient age of 49 years (range, 22-72 years). The tumors occurred in the mesentery (N = 4), omentum (N = 1), or both (N = 1) and were preceded by significant abdominal surgery (4 cases) or trauma (1 case) in all but 1 case. Five patients presented with bowel obstruction and 1 with abdominal sepsis. Tumors were difficult to precisely measure; the mean size of the resection specimens was 11.8 cm (range, 3.5-20 cm). Grossly, the tumors resembled fat necrosis and often cut with a gritty sensation. Microscopically, all lesions demonstrated an exuberant, reactive (myo)fibroblastic proliferation resembling nodular fasciitis, with extensive hemorrhage and fat necrosis. All tumors produced abundant bone and osteoid, often "lace-like," and 2 contained cartilage. The proliferating (myo)fibroblasts, osteoblasts, and chondroblasts were mitotically active but cytologically bland. Follow-up (4 cases; mean, 47.3 months; range, 5-120 months) showed 3 patients alive without disease and 1 dead of unrelated causes. One case was recent. HMO is a distinct intraabdominal ossifying pseudotumor that typically occurs in males, almost always after surgery or abdominal trauma, and frequently presents with symptoms of intestinal obstruction. This clinical history, presence of clearly reactive zones resembling nodular fasciitis, thick osteoid, and absence of nuclear atypia, necrosis, and atypical mitotic figures allow the distinction of HMO from its most important morphologic mimic, EO.
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PMID:Heterotopic mesenteric ossification: a distinctive pseudosarcoma commonly associated with intestinal obstruction. 1633 Sep 51

Fibro-osseous pseudotumor (FP) of the digit is a rare, non-neoplastic heterotopic ossifying lesion involving the subcutaneous tissues of the digits. To date, there are only a few published series in the literature. Our study of 17 cases, retrieved from the authors' referral archives, shows that the condition chiefly affects young to middle-aged adults (median = 34 years), with a slight female predominance and involves the fingers (n = 8) and toes (n = 8). One identical lesion was identified on the forehead (n = 1). Lesional size ranges from 0.8 to 5.6 cm. Treatment was by surgical excision. Histologically, 14 cases show a fairly well-circumscribed dermal (n = 10) or dermal and subcutaneous (n = 7) lesion with surface ulceration (n = 7). The lesion is composed of fascicles of variably cellular, spindle-shaped cells [calponin (n = 14) and smooth muscle actin (SMA) (n = 11) positivity], with minimal to mild atypia (n = 5), dispersed in a myxoid stroma, focally reminiscent of nodular fasciitis. At least focal irregular trabeculae with osteoid formation and osteoblastic rimming are seen in all cases. The main differential diagnosis is an extraskeletal osteosarcoma; however, this afflicts an older age group, with prominent cytological atypia and atypical mitoses. Clinical follow-up (range: 18 months - 14 years, n = 12) reveals evidence of local recurrence in some cases (n = 2), but no evidence of metastases. In conclusion, we report an additional 17 cases of this rare lesion to increase awareness amongst dermatopathologists.
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PMID:Fibro-osseous pseudotumor of the digit: a clinicopathological study of 17 cases. 1967 26

Sirtuin, silent mating-type information regulation 2 homolog Saccharomyces cerevisiae 1 (SIRT1), is a protein that has been implicated in multiple mammalian functions including cell aging, stress resistance, and differentiation. SIRT1 has also been shown to be involved in multiple tumors. In addition, new pharmacotherapies have recently been approved that target SIRT1. The purpose of this study was to use immunohistochemistry to characterize SIRT1 protein expression in human soft tissue neoplasms with the hopes of finding new diagnostic and therapeutic modalities. SIRT1 immunoreactivity was reviewed in a series of 164 soft tissue tumors including alveolar soft part sarcoma, angiomyolipoma, clear cell sarcoma, desmoid/fibromatosis, desmoplastic small round cell tumor, Ewing sarcoma, gastrointestinal stromal tumor, glomus tumor, leiomyoma, leiomyosarcoma, lipoma, liposarcoma, malignant peripheral nerve sheath tumor, nodular fasciitis, osteosarcoma, rhabdomyosarcoma, schwannoma, solitary fibrous tumor, synovial sarcoma, undifferentiated pleomorphic sarcoma, and Wilms tumor. In addition, numerous benign tissues were tested for SIRT1 reactivity. In nonneoplastic tissue, strong cytoplasmic SIRT1 reactivity was observed in all prostate stroma, smooth muscle, and striated muscle. A similar pattern of cytoplasmic SIRT1 expression was observed in soft tissue neoplasms with myoid differentiation, namely, angiomyolipoma (100%), glomus tumor (100%), leiomyoma (90%), leiomyosarcoma (76.5%), and rhabdomyosarcoma (87%). The other lesions examined were negative. Although the physiologic role of SIRT1 remains to be clarified in myoid tissues and neoplasms differentiating along these lines, this observation points to a potential role for this marker in diagnostic immunohistochemistry. Furthermore, the recent emergence of drugs capable of selectively inhibiting SIRT1 raises the possibility of a potential application for targeted therapy. Additional studies are necessary to further characterise the role of SIRT1 in myoid tissues and neoplasms.
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PMID:Sirtuin 1 (SIRT1): a potential immunohistochemical marker and therapeutic target in soft tissue neoplasms with myoid differentiation. 2333 67

Giant cells in soft tissue (ST) tumors are rare, pose great challenges to treating clinicians, and diagnosing pathologists. Common lesion with giant cells includes benign conditions such as nodular fasciitis to highly malignant lesions such as giant cell variant of malignant fibrous histiocytoma and extraskeletal osteosarcoma. Giant cell tumors of ST, extension of bony lesion to the ST are also rare possibilities. Recently, giant cell fibroblastoma and dermatofibrosarcoma protuberans have also been added to this list. These tumors show unpredictable behavior; some patients are cured by simple surgical excision whereas others develop metastasis. Diagnosing these in cytology is still more challenging. We report here a rare case of a giant cell-rich dermatofibrosarcoma protuberans in a 23-year-old male who presented with ST lesion in left forearm since 6 months. The lesion was predicted in fine-needle aspiration cytology and confirmed later with histopathology. When evaluated along with clinical features, the cytological features are very useful to distinguish between these tumors with giant cell morphology.
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PMID:Giant cells in soft tissue tumors! Is it a clue to diagnosis or cytologists mystery??? An unusual case report. 2951 36

Myositis ossificans (MO) and fibro-osseous pseudotumor of digits (FOPD) are localized, self-limiting bone-producing pseudosarcomatous lesions characterized by nodular fasciitis-like proliferation and osteoid and immature woven bone production, which may eventually develop into more mature lamellar bone. Traditionally, MO and FOPD were thought to be of reactive, non-neoplastic nature. USP6 gene rearrangement was recently reported as a consistent finding in MO and FOPD, thus expanding the spectrum of transient, USP6-rearranged neoplasms. COL1A1 was described as the fusion partner of USP6 in a subset of MO cases, but the fusion partners of USP6-rearranged FOPD have not been uncovered so far. Initially, we carefully reviewed all 27 cases of MO/FOPD from our archives, documenting the remarkable morphological overlap between both lesions. Sixteen cases were seen in consultation, and our review was requested to rule in or rule out tentative diagnoses by referring pathologists. Malignant diagnosis (osteosarcoma) was suggested by the submitting pathologists in 3 cases, whereas 7 cases were sent by the referring pathologists to "rule out sarcoma." In the following step, using next-generation sequencing, we confirmed the COL1A1-USP6 rearrangement in 5/7 cases of MO and found the same abnormality in 4/5 of FOPD. Overall, 9 of the 12 analyzable cases (75%) of MO and FOPD harbored this gene fusion. The presence of COL1A1-USP6 gene rearrangement in MO/FOPD links these lesions to other USP6-driven tumors and represents a very useful supportive marker, which may help to avoid overdiagnosis of MO/FOPD as a sarcoma.
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PMID:Fibro-osseous pseudotumor of digits and myositis ossificans show consistent COL1A1-USP6 rearrangement: a clinicopathological and genetic study of 27 cases. 3094 36

Ossifying fasciitis is a very rare disease of reactive character; however, it can mimic malignant lesions, especially osteosarcoma. We report a case of a 30-year-old woman, who experienced a rapidly growing painful lesion of the left knee joint, preceded by a trauma. The tumor was resected, and the histopathological image suggested a malignant lesion with features of an osteosarcoma. A detailed correlation with a clinicopathological and radiological analysis led to the final diagnosis of ossifying fasciitis at an extraordinary site of patellar retinaculum. Our case shows that the close similarity between ossifying fasciitis and osteosarcoma may be challenging.
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PMID:Ossifying fasciitis at an extraordinary site - a case report and analysis of diagnostic pitfalls. 3131 96