Translocation t(12;22)(q13;q12.2–12.3) in a clear cell sarcoma of tendons and aponeuroses

Cytogenetic analysis of a short-term culture from a clear cell sarcoma revealed a complex karyotype with the mainline of 49,XY,t(7;18)(p11.2;q21.3), + der(7)t(7;18)(p11.2;q21.3), + 8, + der(8;17)(q10;q10),t(12;22)(q13;q12.2–12.3),add(13)(p13). An apparently identical translocation t(12;22) has been described recently in four clear cell sarcomas, indicating that this constitutes a primary cytogenetic change specific for this type of tumor. In our case, the breakpoint on chromosome 22 could be assigned to band 22q12.2 or 22q12.3. Together with the present case, trisomy or tetrasomy 8 has been found in six of nine clear cell sarcomas, suggesting that, as in Ewing's sarcoma and myxoid liposarcoma, trisomy/tetrasomy 8 represents a nonrandom secondary aberration. We conclude that the finding of the specific translocation t(12;22) may prove to be an important marker in the differential diagnosis of clear cell sarcoma from some other soft tissue sarcomas and malignant melanoma. © 1993 Wiley-Liss, Inc.     

t(12;22)(q13;q13) and trisomy 8 are nonrandom aberrations in clear-cell sarcoma.

We report a case of clear-cell sarcoma with a t(12;22)(q13;q13) and multiple copies of chromosome 8 in addition to other abnormalities. An identical or similar translocation has previously been reported in this type of tumor, suggesting that the t(12;22) is a primary cytogenetic change in the pathogenesis of a subset of clear-cell sarcomas. In addition, the presence of extra copies of chromosome 8, commonly noted in our case and others, suggests that it represents a nonrandom secondary change in these tumors.     

Complex karyotypic changes, including rearrangements of 12q13 and 14q24, in two leiomyosarcomas

Cytogenetic investigation of short-term cultures from two leiomyosarcomas revealed complex karyotypic changes in both cases. The first tumor, a subcutaneous leiomyosarcoma of the knee, had the karyotype 70-80,XY, +X, +Y, +1, +1, +2, +2, +3, +3, +4, +4, +7, +7, +8, +8, +9, +10, +15, +15, +16, +16, +18, +19, +20, +21, +21, +22, +22,t(?;5)(5;21)(?;q35p11;q11), t(?;5)(5;21)(?;q35p11;q11), +del(11)(q22),der(13)t(12;13)(q13;q22),der(14)t(9;14)(p11;p11), +14p+, +t(20;?)(q13;?), +t(20;?)(q13;?), +2 mar. A polyploidized clone with 120-150 chromosomes was also observed. DNA flow cytometry revealed only one abnormal peak, corresponding to a DNA index of 1.76. The other tumor, a uterine leiomyosarcoma, had the karyotype 61-67, X, -X, +1, +3, +5, +6, +7, +8, +9, +12, +13, +15, +t(1;1)(p32;q32), +der(1)t(1;8)(p13;q11), +del(2)(p11), +del(2)(q22), +del(2)(q22), +del(3)(p13), +i(5p),t(8;14)(q24;q24), +der(8)t(8;14) (q24;q24), +del(10)(p12),der(11)t(11;15)(p15;q11),t(16;?)(p13;?),t(16;?)(q24;?), der dic(17) (17pter----cen----17q25::hsr::17q25----cen----17pte r), +t(19;?)(p13;?), +der dic(20)(20pter----cen----20q12::hsr::20q12----cen----+ ++20pter), +mar. The DNA index was 1.59. The finding in these leiomyosarcomas of rearrangements of the same regions of chromosomes 12 and 14 that are involved in the tumor-specific t(12;14)(q14-15;q23-24) of uterine leiomyoma indicates that the same genes in 12q and 14q might be important in the pathogenesis of benign and malignant smooth muscle tumors.     

Translocation (8;13)(q24.2;q33) in a malignant rhabdoid tumor of the liver

A case of malignant rhabdoid tumor of the liver associated with hypercalcemia of malignancy was studied. The karyotype of the liver primary was 46,XY,t(8;13)(q24.2;q33)[7]/46,XY[13], and of the brain metastasis 46,XY,t(8;13)(q24;q33)[5]/46,XY,t(7;13)(p14;q22) [3]/46,XY,t(1;2;3)(q25;q21;p21) [2]/46,XY[13], respectively. Band 8q24 was previously reported to be rearranged in two malignant rhabdoid tumors, one renal and one hepatic.     

Clear cell sarcoma with t(12;22) (q13-14;q12).

Karyotypic analysis of a clear cell sarcoma revealed a translocation t(12;22) (q13-14;q12) as a primary chromosomal change. This case is the third clear cell sarcoma cytogenetically analyzed; the two previously reported cases had t(12;22)(p11;p11), and a complex karyotype with trisomy 22, respectively.     

Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3' EWSR1 gene in a patient with Ewing sarcoma

Ewing sarcoma is the second most common malignant bone tumor in children and young adults. Cytogenetic analysis to identify a common t(11;22)(q23;q12) or less frequently a t(21;22)(q22;q12) or t(7;22)(p22;q12) plays an important role in the confirmation of the clinical diagnosis. We report a case of a 10-year-old female who had extraskeletal Ewing sarcoma. Conventional cytogenetic analysis revealed that 11 out of 20 cells had a derivative chromosome 22, possibly due to an insertion of the long arm of the 21q21 approximately q22. This finding was confirmed by fluorescence in situ hybridization (FISH) utilizing whole chromosome paint probes specific for chromosomes 21 and 22. Hybridization utilizing LSI EWSR1, dual-color break-apart rearrangement probe unexpectedly revealed that the 3' EWSR1 gene was lost on the derivative chromosome 22. This finding suggests that the insertion of chromosome 21 is another mechanism that could lead to EWS-ERG gene fusion. To our knowledge, this is the first case report of an insertion of a segment of 21q21 approximately q22 into the long arm of 21q12 with a loss of a DNA segment around the breakpoint on the derivative chromosome 22 in Ewing sarcoma.     

t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma

A 56-year-old woman was brought to the emergency room with gum swelling and pain. Biopsy of the gingiva revealed sheet-like proliferation of myeloperoxidase and CD45-positive large cells, and she was diagnosed with granulocytic sarcoma. Two years later, bone marrow involvement of granulocytic sarcoma was suspected. Her chromosome study repeatedly revealed a 46,XX,t(5;12)(q13;p13) karyotype. Case reports of t(5;12)(q13;p13) are extremely rare in the literature. To our knowledge, this is the first report of t(5;12)(q13;p13) in a patient with acute myelogenous leukemia with preceding granulocytic sarcoma.     

Cytogenetic study of Kaposi's sarcoma associated with acquired immunodeficiency syndrome

We performed cytogenetic studies on direct preparations and short-term cultures from Kaposi's sarcoma cells obtained from malignant pericardial effusion. The patient, a 46-year-old man with human immunodeficiency virus infection, initially presented with metastatic Kaposi's sarcoma. Despite therapy, his tumor proved aggressive, and the patient died of widespread pulmonary involvement nine months after diagnosis. Cytogenetic analysis revealed a predominant karyotype of 48,X,-Y, t(2;7)(q32;q36), +der(5)t(5;15)(q?15;q?15), -7, +del(7)(p15), +del(7)(p15), +der(8)t(8;D or G)(q24;p11.2), del(10)(p13), dup(12)(q24), t(18;20)(q21;q13). This case is described in relation to other published cytogenetic studies of this tumor.     

Detection of a novel reciprocal t(16;22)(q11.2;q12) in a Ewing sarcoma

Several structural and numerical chromosomal abnormalities have been identified as primary and secondary chromosomal aberrations in Ewing sarcoma (ES). The majority of these are t(11;22) and trisomies, especially of chromosome 8. Specific chromosomal abnormalities often correlate with particular morphologic or phenotypic subtypes of tumor and play an important role in prognosis. The objective of this report is the cytogenetic evaluation of a case of ES using G-banding, fluorescence in situ hybridization, and spectral karyotyping techniques. Multiple chromosomal aberrations were identified including a novel reciprocal t(16;22)(q11.2;q12).     

Multiple structural chromosome rearrangements, including del(7q) and del(10q), in an adenocarcinoma of the prostate

Cytogenetic analysis of a poorly differentiated adenocarcinoma of the prostate revealed the complex karyotype: 76-86,X, -Y, +X, +X, +del(X)(q24), +t(1;10) (p22;q24), -2, +der(2) t(1;2;?)(p32;q24p13;?), +der(2)t(1;2;?) (p32;dq24p13;?), +3, +3, +4, +5, +5, +6, +7, +del(7) (q22), -8, +der(8)t(8;?)(q24;?), + der(8)t(8;?)(q24;?), +9, +10, +10, +der(10)t (1;10)(q24;q22), +del (10)(q23), +11, +11, +12, +der(12)t(4;12)(q11;p11), +der(12)t(4;12) (q11;p11), +14, +der (15)t(1;15)(q21;p11), +t(16;?) (q21;?), +17, +18, +19, +19, +20, +20, +21, +22, +2-5 mar. The karyotype contains deletions of both 7q and 10q, abnormalities that also have been described previously in prostatic adenocarcinomas, and which hence may represent primary chromosomal rearrangements in this type of cancer.     

Primary clear cell sarcoma of the ileum

Clear cell sarcoma or malignant melanoma of soft tissue is a high-grade sarcoma with melanocytic differentiation, essentially involving tendons and aponeuroses of distal extremities in young adults. Visceral locations are exceptional and only 8 cases involving the gastrointestinal tract are reported in the literature. We present a case of an ileal clear cell sarcoma discovered in a 26-year-old woman. Moreover, we emphasize on the diagnosis difficulties of this rare type of sarcoma, characterized by the specific translocation t(12;22)(q13;q12).     

Translocation (2;8)(p12;q24) associated with a cryptic t(12;21)(p13;q22) TEL/AML1 gene rearrangement in a child with acute lymphoblastic leukemia

We report a case of childhood acute lymphoblastic leukemia with the simultaneous occurrence of a t(2;8)(p12;q24) typically associated with mature B cell or Burkitt leukemia, and a t(12;21)(p13;q22) exclusively associated with pre-B cell ALL. The lymphoblasts were characterized as L2 morphology by the French-American-British classification. However, there were atypical morphologic findings for L2 ALL, including vacuolization in some cells. The lymphoblasts were periodic acid-Schiff positive and myeloperoxidase negative. Immunophenotypic analysis revealed that the majority of lymphoblasts were TdT+, CD10+, CD19+, CD20-, and cytoplasmic mu+. These features were consistent with an immature pre-B cell leukemia phenotype with some characteristics of a mature B-cell leukemia. A t(2;8)(p12;q24)(p12;q24), characteristic of mature B-cell leukemia or Burkitt type leukemia, was detected by conventional cytogenetics with no other cytogenetic abnormalities. However, diagnostic peripheral blood and bone marrow specimens demonstrated simultaneous occurrence of a cryptic t(12;21)(p13;q22) by both FISH and RT-PCR. The simultaneous occurrence of these translocations in a pediatric patient have implications for the pathogenesis of leukemias with t(2;8)(p12;q24) as well as t(12;21)(p12;q22). Analysis of additional cases of leukemia with translocations involving the MYC locus on 8q24 will be required to determine the frequency of association with the cryptic t(12;21)(p13;22), and the prognostic significance of the simultaneous occurrence of the translocations.     

t(6;12)(q23;q13) and t(10;16)(q22;p11) in a phyllodes tumor of breast.

Cytogenetic analysis of short-term cultures from a phyllodes tumor showed clonal chromosome changes including t(6;12)(q23;q13) and t(10;16)(q22;p11). This is the first reported karyotype in this tumor type. We discuss the breakpoints of these translocations in relation to the involvement of possible candidate genes.     

Der(16)t(1;16)(q21;q13) as a secondary structural aberration in yet a third sarcoma,extraskeletal myxoid chondrosarcoma

Cytogenetic analysis of an extraskeletal myxoid chondrosarcoma revealed a der(16)t(1;16)(q21;q13) in addition to the t(9;22)(q22;q12) described as characteristic for this chondrosarcoma clinicohistopathologic subtype. An identical der(16) has been identified as the most common secondary structural aberration in Ewing's sarcoma and alveolar rhabdomyosarcoma. Genes Chromosomes Cancer 20:425–427, 1997. © 1997 Wiley-Liss, Inc.     

Translocation (10;17)(q22;p13): a recurring translocation in clear cell sarcoma of kidney

A clear cell sarcoma from the kidney of a 12-month-old male child manifested a balanced translocation, t(10;17)(q22;p13). This is the second report of this cytogenetic abnormality in renal clear cell sarcoma.