1/261. Intramuscular mixed tumour with clonal chromosomal changes.A case of an entirely intramuscular mixed tumour occurred in an 82-year-old man, who presented with a large mass in the region of the right triceps muscle. A lobulated tumour was seen, with plump, round epithelioid cells embedded in a chondromyxoid stroma. Immunohistochemical examination showed strong S100 protein and pancytokeratin positivity in most of the tumour cells. cytogenetic analysis revealed complex clonal chromosomal changes: 47, XY, i(2) (q10), -15, der(17) t(15; 17) (q11; p12), r. Differential diagnosis against extraskeletal myxoid chondrosarcoma (EMC) may be problematic, particularly in an incisional biopsy. Chromosomal analysis can be very helpful in solving this problem, since EMC shows a specific reciprocal chromosome translocation characterised as t (9;22) (q22-31) (q11-12).- - - - - - - - - - ranking = 1keywords = sarcoma (Clic here for more details about this article) |
2/261. Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland.The cytogenetic analysis of a spindle-cell rhabdomyosarcoma of the parotid gland in a 6-year-old boy is reported. The tumor cells showed an abnormal karyotype with a hypotriploid modal chromosome number and clonal structural rearrangements affecting chromosomes 1, 8, 12, 21, and 22. The tumor karyotype was: 59, XY, -1, -3, -4, -5, -6, 8, 8, del(8)(q22q24), -9, -10, del(12)(q13), -15, -16, -17, -18, der(21)t(12;21)(p11;p11), -22, der(22)t(1;22)(q12;p11).- - - - - - - - - - ranking = 5.0436989077421keywords = sarcoma, spindle (Clic here for more details about this article) |
3/261. Embryonal rhabdomyosarcoma with only numerical chromosome changes. Case report and review of the literature.An embryonal rhabdomyosarcoma, presenting as a retroperitoneal mass in a 15-year-old girl, is reported. The histological and immunohistochemical picture was typical, except for the presence of focal chondroid differentiation. Interestingly, expression of the "muscle markers" desmin and alpha-sarcomeric actin was present in the latter areas. cytogenetic analysis showed a hyperdiploid karyotype without structural chromosome changes. The pertinent literature on the subject is reviewed. Hyperdiploidy of the clonal type seems to occur frequently, but no characteristic karyotype is so far emerging.- - - - - - - - - - ranking = 5keywords = sarcoma (Clic here for more details about this article) |
4/261. Multiple karyotypic aberrations in a polymorphous variant of waldenstrom macroglobulinemia.A 71-year-old woman presented with malaise, skin bruising, epistaxis, and gingival bleeding of recent and prompt onset. There was no adenopathy. The liver and spleen were not enlarged. bone marrow aspirate showed a polymorphous infiltration with lymphocytes (22%), typical Marschalko plasma cells (16%), plasmacytoid lymphocytes (29%), lymphoblasts (8%), and immunoblasts (13%). The immunoblasts morphologically resembled lymphosarcoma cells with a frequent "clover-leaf" appearance. An IgM paraprotein concentration in serum was 38.5 g/L. The bone marrow histopathology confirmed the presence of heterogenous cell infiltration, with 30% of the population being comprised of lymphoblasts and immunoblasts. In order to differentiate a polymorphous variant of waldenstrom macroglobulinemia (WM) from the more common small cell lymphocytic lymphoma (SLL) in anaplastic metamorphosis, flow cytometric studies were performed on marrow specimens. A typically bright surface IgM (lambda) was demonstrated with a less bright CD38. Further immunophenotype was HLA-DR , CD19 , CD20 and CD10-, CD22-, T-Ag- and kappa light chain- expression. This corroborated the diagnosis of an extremely rare, polymorphous variant of WM. The marrow cytogenetics disclosed 50% (10/20) pathologic metaphases 48,X,dup(X)(p21p22),der(2), 5,del(6)(q11q21), 12,inv(16)(p13q22), del(17) (p12), and 50% normal metaphases. The patient was treated with a LOPP protocol. She failed to respond and died 5 months after the diagnosis with myocardial and renal insufficiency complicating a pronounced pancytopenia in the peripheral blood.- - - - - - - - - - ranking = 1keywords = sarcoma (Clic here for more details about this article) |
5/261. Endometrial stromal sarcomas: immunohistochemical, electron microscopical and cytogenetic findings in two cases.Uterine sarcomas are approximately 3% of all malignant uterine corpus tumours. Of these, the tumours that originate solely in the stromal elements of the uterine wall are infrequent and have not been well characterized cytogenetically. We report two cases of endometrial stromal sarcomas (ESS), one low grade and one high grade, diagnosed by conventional histology, immunocytochemistry, electron microscopy and cytogenetics. Morphologically clear-cut differential structures were seen at optical, immunohistochemical, and electron microscopic levels, permitting a clear differential diagnosis. The low-grade ESS expressed hormonal receptors and vimentin, whereas the high-grade ESS showed no hormone receptors, high Ki-67 activity, and occasional cytokeratin-positive cells. Ultrastructurally, no malignant epithelial differentiation was seen in the tumour cells, but cilia were found in both cases. Cytogenetic study of the low-grade ESS showed pseudodiploid karyotype with chromosomes 6 and 20 rearranged. The high-grade ESS showed a complex karyotype with clonal numerical and structural anomalies. The chromosomes involved in the structural rearrangements were 1, 3, 6, 7, 13, 14, 15, 17, 19, and 21.- - - - - - - - - - ranking = 6keywords = sarcoma (Clic here for more details about this article) |
6/261. Solitary fibrous tumor of the pleura: a cytogenetic study.A solitary fibrous tumor of the pleura was studied. Its karyotype was 46,XY,t(6;17) (p11.2;q23),ins(9;12)(q22;q15q24.1),inv(16)(p13.1q24). The rearrangement of 12q13-15 was also described in a subset of hemangiopericytomas of soft tissue and meninges. Because both types of tumors are morphologically and immunophenotypically quite similar, and because some of them share rearrangement of 12q13-15, the possibility of their histogenetical relatedness should be considered.- - - - - - - - - - ranking = 0.00071883247337708keywords = soft (Clic here for more details about this article) |
7/261. Collagenous fibroma (desmoplastic fibroblastoma): genetic link with fibroma of tendon sheath?We observed clonal chromosome abnormalities in two fibrous soft tissue tumors diagnosed as collagenous fibroma (desmoplastic fibroblastoma). The involvement of the same band of the long arm of chromosome 11, 11q12, was observed in both tumors. The presence of hitherto unreported similar chromosomal abnormalities in this tumor supports the neoplastic nature of this lesion. In addition, a possible relationship with fibroma of tendon sheath, which also shows rearrangement of 11q12, is suggested. 11q12 might be a common genetic denominator of benign fibroblastic lesions, such as collagenous fibroma and fibroma of tendon sheath.- - - - - - - - - - ranking = 0.00071883247337708keywords = soft (Clic here for more details about this article) |
8/261. Endometrial stromal sarcoma with clonal complex chromosome abnormalities. Report of a case and review of the literature.Only eleven endometrial stromal sarcomas (ESS) with clonal chromosomal abnormalities have been reported in the literature. Of these, four have been reported to harbor the t(7;17) translocation. We report here an additional ESS that exhibited clonal complex chromosome abnormalities not described earlier: 38,XX,-1,del(1)(q11),-2,add(2)(p13),-3,der(4)add(4)(p12)psu dic(4;14)(q35;q11.2), add(6)(p21.3),add(7)(q22),del(7)(p11.2p13),-8,-9,add(9)(q34),- 10,add(10)(q24),-11,-11,ins(12;?) (q13;?),-14,-14,-15,ins(15;?)(q22;?),add(16)(q22),add(17)(q11.2),- 18,der(18)t(7;18)(q11.2;p11.2),-19, add(20)(p13),add(21)(p11.2),-22,add(22)(p11.2), 6mar in metaphase cells from primary short-term culture.- - - - - - - - - - ranking = 5keywords = sarcoma (Clic here for more details about this article) |
9/261. Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature.BACKGROUND: Despite the characteristic histopathologic appearance of alveolar soft-part sarcoma (ASPS), its histogenesis remains unclear, and cytogenetic analysis of ASPS is limited to eight cases so far because of the extreme rarity of this disease. methods: The authors document a cytogenetic study of a primary case of ASPS in which a modern spectral karyotyping technique was used. RESULTS: A standard cytogenetic analysis of the primary tumor cells with G-banding revealed 46,XY, add(17)(q25) in 23 of 25 metaphases analyzed. This structural rearrangement of chromosome 17, involving band q25, was also present in 5 of 8 ASPS cases in the literature. Moreover, with the spectral karyotyping technique, the additional part of the long arm of chromosome 17 in the current case was found to originate from chromosome X, resulting in a final tumor karyotype of 46, XY, add(17)(q25).ish der(17)t(X;17) (p11.2;q25)(wcpX ). CONCLUSIONS: This case report documents a clonal chromosome abnormality of der(17)t(X;17)(p11.2;q25) in ASPS. The results of the current study indicate that further molecular analyses focused on 17q25 and Xp11.2 are of interest and could help to elucidate the pathogenesis of ASPS.- - - - - - - - - - ranking = 5.0035941623669keywords = sarcoma, soft (Clic here for more details about this article) |
10/261. Fine needle aspiration cytology of plexiform fibrohistiocytic tumor. A case report.BACKGROUND: Plexiform fibrohistiocytic tumors are rare lesions of proposed myofibroblastic origin occurring primarily in infants and children. While the histologic, immunohistochemical and ultrastructural findings have been well described, cytologic description has been limited. CASE: An 8-month-old, male infant presented with a posterior chest wall mass and decreased use of his left arm. Fine needle aspiration biopsy showed a spectrum of plump fibroblastic spindle cells and histiocytelike cells within a finely granular myxoid background. Osteoclastlike giant cells were also noted. CONCLUSION: We report here the cytologic findings of a plexiform fibrohistiocytic tumor from fine needle aspiration biopsy studied using Papanicolaou, Ultrafast Papanicolaou and Diff-Quik stain, with the cytologic differential diagnosis of other spindled and histiocytelike tumors.- - - - - - - - - - ranking = 0.040794895898935keywords = spindle cell, spindle (Clic here for more details about this article) |
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