1/23. Translocation (15;17)(q22;q21) as a secondary chromosomal abnormality in a case of acute monoblastic leukemia with tetrasomy 8.We describe a case of acute monoblastic leukemia (AML M5a), originally presenting as granulocytic sarcoma of the testis, showing unusual cytogenetic abnormalities. tetrasomy 8 (primary) and t(15;17)(q22;q21) (secondary) were detected in bone marrow cells 6 months post-diagnosis, both by routine karyotype analysis and by fluorescence in situ hybridization (FISH) studies on metaphases and interphase nuclei. Retrospectively, the same abnormalities were identified in the primary testicular lesion using interphase FISH. However, reverse transcriptase polymerase chain reaction (RT-PCR) did not reveal the presence of a classic PML/RAR alpha fusion transcript. To the best of our knowledge, this is the first case to be reported in the literature of AML showing tetrasomy 8 in combination with secondary t(15;17).- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/23. Common chromosome aberrations in the proximal type of epithelioid sarcoma.A new case of the proximal type of epithelioid sarcoma with a complex karyotype 70-98 <4N>,XX,-X,-X, 5,i(5)(q10), 7,del(7)(q31),i(8)(q10)x3 approximately 4,del(12)(p13),der(18)ins(18:?) (q11;?)del(18)(p11). ish der(18)ins(18;X)del(18)(p11)(wcp18 ,wcpX ), 20, 20,dmin [cp9] is described. Both, dual-color FISH using probes specific for OATLI1/OATL2 genes and RT-PCR analysis excluded the presence of t(X;18), typical for synovial sarcoma. Our case together with the previously published ones suggest that the presence of i(8)(q10), losses of 12p and 18p together with the gain of chromosome 20 may represent a common cytogenetic aberrations in the proximal type of epithelioid sarcoma.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/23. A highly aggressive primitive mesenchymal tumor with a translocation (1;19)(q12;q13.2).Soft tissue sarcomas constitute a heterogeneous group of malignant tumors of mesenchymal origin, the classification of which may present a diagnostic challenge. We present here the cytological, histopathological, immunohistochemical, and cytogenetic findings of an unusual case of a highly aggressive sarcoma. Based on the morphology and the immunohistochemical profile, this primitive tumor and its metastases could not be conclusively classified as any of the defined subtypes of sarcomas, although the findings were suggestive of a variant of rhabdomyosarcoma. Cytogenetic characterization using G-banding, SKY, FISH, and CGH revealed almost identical chromosomal compositions of the primary tumor and the metastasis. The hypertetraploid karyotype was characterized by numerical imbalances as well as by an unbalanced translocation t(1;19)(q12;q13.2), which has not been previously reported.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/23. Coamplification of 12p11 and 12q13 approximately q22 in multiple ring chromosomes in a spindle cell sarcoma resolved by novel multicolor fluorescence in situ hybridization analysis.An 80-year-old male presented with a lobulated mass in the lower abdominal wall. A diagnosis of an intermediate grade myofibroblastic spindle cell sarcoma was made. cytogenetic analysis demonstrated a complex karyotype with a der(6), a small marker and five, different in size, ring chromosomes. fluorescence in situ hybridization (FISH), multiplex FISH, and multicolor banding analysis was used to further delineate this complex karyotype. The der(6) was shown to be a der(18)t(6;18;9;12;18), the marker chromosome was identified as del(17), and the ring chromosomes as r(9) and r(12;18)x4. Amplification of 18 and coamplification of 12p and 12q was detected in the ring and marker chromosomes. No intercellular heterogeneity was observed although a few micronuclei containing chromosome 18 and anaphase bridges, containing chromosome 12 material, the result of bridge-fusion-bridge (BFB) cycles, were observed. Our findings combined with results from others indicate that amplification of chromosomes 12 and 18 as well as BFB phenomena characterize this type of sarcoma.- - - - - - - - - - ranking = 2keywords = karyotype (Clic here for more details about this article) |
5/23. Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17).Endometrial stromal sarcomas (ESS) are rare neoplasms with the capacity both to invade the myometrium locally and to give rise to extrauterine metastases. Cytogenetic abnormalities have been reported in 22 cases of ESS, mostly involving rearrangements of chromosomes 6, 7, and 17. The most characteristic translocation of this tumor type, t(7;17)(p15 approximately p21;q12 approximately q21), was recently shown to generate a JAZF1/JJAZ1 fusion gene. We report three additional cases of ESS with abnormal karyotypes, whose interpretation was based on the combined analysis by conventional cytogenetics and cross-species color banding FISH (RxFISH). The combination of G-banding and RxFISH in every case gave additional information beyond that obtained by either technique alone, determining the identity of even complex inter- as well as intrachromosomal rearrangements. In one of the three tumors, a t(7;17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case. Two tumors had aberrations that included structural changes of chromosome arms 6p and 7p. Evidently, karyotypic, and hence pathogenetic, heterogeneity exists for tumors classified as endometrial stromal sarcomas based on their phenotypic features.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/23. dna ploidy and karyotype in recurrent and metastatic soft tissue sarcomas.To study mechanisms involved in evolution of soft tissue sarcomas, we compared dna ploidy and karyotypes at different stages of their disease in two patients with myxoid liposarcomas (MLS), one with a fibrosarcoma (FS), and two with rhabdomyosarcomas (RMS). None of the MLS samples revealed clearcut histologic changes in later samples as compared to their primaries, and the dna ploidy in all samples was diploid. In one patient karyotypes at four different times during the 19 yr of his disease all revealed a t(11;12) (p15;q13), but additional clonal chromosomal abnormalities occurred only in later recurrences. In another patient the karyotypes obtained in the 26th and 28th yr of his disease were similar and included the t(12;16) (q13;p11), characteristic of MLS. A comparison with karyotypes of six other MLS patients at different disease stages suggests that the presence of a t(12;16) may correlate with less aggressive clinical behavior. The histology of the FS remained low-grade and the dna ploidy diploid. The karyotype, however, showed evolution. In both MLS and FS, chromosomal changes thus seem to be a more sensitive marker for tumor progression than histologic changes or dna ploidy. In one embryonal RMS, karyotypes obtained 7 and 11 yr after the primary diagnosis were different but clearly had a common "progenitor." In one alveolar RMS, the primary and the synchronous lung and lymph node metastases all revealed a t(2;13). The findings in RMS suggest that polyploidization is an early event in tumor evolution, especially in the alveolar subtype, which may be followed by additional chromosomal changes. In addition, dna ploidy was measured in eight other RMSs. Among the RMSs the embryonal subtype was characterized by dna aneuploidy, whereas three of the alveolar cases were in the tetraploid range and one was peridiploid. In local recurrences and in metastases changes in dna index were observed in half the cases.- - - - - - - - - - ranking = 10keywords = karyotype (Clic here for more details about this article) |
7/23. Reciprocal translocation t(12;22)(q13;q13) in clear-cell sarcoma of tendons and aponeuroses.Clear-cell sarcoma is a rare soft tissue sarcoma that displays certain similarities to malignant melanoma. In this paper we describe the karyotypic findings and in vitro growth characteristics of a short-term-cultured clear-cell sarcoma. The cultured tumor cells had preserved immunohistochemical characteristics and certain ultrastructural features of the primary tumour, including positivity for vimentin, S-100 protein, and a melanoma-associated antigen, supporting the authenticity of the cultured cells. cytogenetic analysis revealed an abnormal stemline karyotype of 49,XY, -1, 8, 8, 12, der(1)t(1;?)(p36.1-.3;?), t(12;22)(q13;q13). A similar or identical t(12;22) was recently reported in two of four clear-cell sarcomas. It is suggested that the t(12;22)(q13;q13) is a primary cytogenetic abnormality in clear-cell sarcoma and distinguishes this tumor type from malignant melanoma.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/23. Cytogenetic findings in a breast stromal sarcoma. Application of fluorescence in situ hybridization to characterize the breakpoint regions in an 11;19 translocation.cytogenetic analysis of a stromal breast sarcoma revealed a complex karyotype that included a reciprocal 11;19 translocation, along with multiple numerical changes, deletions, and other unbalanced structural rearrangements. Karyotypic abnormalities have not been reported previously in this rare neoplasm that arises from mesenchymal breast tissue, and the t(11;19) is of interest because various types of sarcoma are characterized by specific reciprocal translocations. Because of the pericentric nature of the breakpoints on chromosomes 11 and 19 in the t(11;19), classical cytogenetic banding could not reveal the centromeric origin of the translocation derivatives. Using nonisotopic in situ hybridization with chromosome 11 and 19 alpha-satellite probes, the centromere of each derivative chromosome was determined, and the rearrangement was interpreted as a balanced translocation, t(11;19)(q12 or q13.1;p12 or p13.1). This abnormality has not been described previously in any breast tumor.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
9/23. Pleomorphic sarcoma as a mimicker of sarcomatous carcinoma.The fourth case of a poorly differentiated sarcoma histologically mimicking a sarcomatous carcinoma is reported. The tumor was focally weakly positive for keratin, moderately focally positive for epithelial membrane antigen, muscle-specific actin, smooth muscle actin, and calponin, and strongly diffusely positive for vimentin. The neoplastic cells were closely apposed, often without intervening intercellular matrix; the cell membranes were straight and contained desmosome-like junctions. The cytoplasm contained a moderate number of mitochondria, rough endoplasmic reticulum, ribosomes, and many vesicles. The karyotype was complex and many chromosomal rearrangements were present. The diagnostic term carcinomatoid sarcoma is proposed for these interesting, insufficiently studies, tumors.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/23. "Proximal-type" and classic epithelioid sarcomas represent a clinicopathologic continuum: case report.We report a case of an epithelioid sarcoma that occurred in the right hand of a 14-year-old boy and had the "proximal-type" morphology and a complex, near-tetraploid karyotype. The tumor metastasized to the lungs, where the morphology was typical for the classic epithelioid sarcoma. Based on the morphologic and cytogenetic findings in this case, we suggest that the proximal-type and the classic epithelioid sarcomas are not distinct entities but represent a continuum.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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