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.     

Eosinophilic leukemia associated with t(2;5)(p23;q31)

Chromosomal aberrations have been reported in most malignant hematopoietic disorders such as acute or chronic myeloid leukemia, acute lymphoid leukemia, and myelodysplastic syndromes. Eosinophilic leukemia is a rare hematologic malignancy difficult to distinguish from other forms of idiopathic hypereosinophilic syndrome, so that the diagnosis is often made by exclusion, unless cytogenetic abnormalities can be demonstrated in bone marrow cells. We describe a patient with eosinophilic leukemia whose cytogenetic study shows a t(2;5)(p23;q31). Initial data could suggest a clonal eosinophilia, with an hepatosplenomegaly, severe pancytopenia, and a high level of blood and medullar eosinophilia.     

Familial translocation, t(2;5)(p23;q31)

A reciprocal translocation, t(2;5) (p23; q31) was found in healthy individuals through two generations of a family. The balanced aberration resulted in a derivate chromosome 2 in two malformed offspring in the third generation. The family was ascertained through the two unbalanced carriers whose phenotype abnormalities resembled those of two other offspring who died prior to the cytogenetic examination.     

Acute myelomonocytic leukemia with bone marrow eosinophilia and inv(16)(p13q22),t(1;16)(q32;q22)

A two-year-old girl presenting with de novo acute myelomonocytic leukemia with eosinophilia (French-American-British [FAB] classification, M4Eo) and inv(16)(p13q22), t(1;16)(q32;q22) involving the same chromosome 16 is described. This is the second report of a variant translocation of an inverted chromosome 16 with chromosome 1 at 1q32. However, the segment 1q32----1qter has been exchanged for 16q22----qter and not 16p13----pter, as reported in the previous case. The additional break at 1q32 and the juxtaposition of 1q32----qter onto chromosome 16 could be relevant to the pathogenesis of the disease.     

46，XX，t（7；13）（p13；q12）一例

患者女，33岁，因习惯性流产就诊。患者表型、智力均正常，月经正常，妇科检查：子宫、附件正常。外周血染色体分析其核型为：46，Xx，t（7；13）（7qter→7p13：：13q12→13qter；13pte→＋13q12；：7p13→7pter）。其夫核型正常。父母非近亲结婚，其母无不良生育史，其妹流产2次，第3次生育一表型正常男孩。父、母、妹均未作染色体检查。     

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.     

A novel t(2;3)(q31;p13) in acute myelocytic leukemia

We report a case of acute myelocytic leukemia without maturation exhibiting a novel t(2;3)(q31;p13). Conventional cytogenetics showed the concomitant occurrence of a single metaphase with 47,XX,+8. Nevertheless, interphase cytogenetics by fluorescence in situ hybridization using a chromosome 8 alpha-satellite DNA probe showed that the percentage of cells with three hybridization signals was within the control range.     

The t(1; 12)(p36;q13) in a Renal Oncocytoma

A new chromosome rearrangement, t(1;12)(p36;q13). is added to the cytogenetic changes found in renal oncocytomas. The breakpoint in 12q is cytogenetically different from those of the MAR region, and molecularly HMGlC located in 12q 15 on the basis of 3′ RACE experiments does not seem to be directly involved. Genes Chrornosorn Cancer l7:/36–/39 (1996). © 1996 Wiley-Lia, Inc.     

Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia

A father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13.     

Translocation t(13;17)(q12-14;p12-13) in two patients with lymphocytic lymphoma

Cytogenetic studies were performed at the time of diagnosis on two patients with diffuse small cell lymphocytic lymphoma. Both patients had a similar simple karyotype with a t(13;17)(q12-14;p12-13). These observations confirm the nonrandom involvement of band 13q13 in chronic lymphoproliferative diseases.     

Solitary fibrous tumor of the orbit with a t(9;22)(q31;p13)

Solitary fibrous tumors are well-described neoplasms found predominantly in the subpleural region but also in many other body sites. They generally behave in a benign fashion, although a few cases that exhibit a malignant course have been reported. Genetic information on solitary fibrous tumors is sparse. This case illustrates a previously unreported finding of a tumor-specific t(9;22)(q31;p13) in a solitary fibrous tumor of the orbit of a 58-year-old man.     

Nonrandom t(1;22)(p12-p13;q13) in acute megakaryocytic malignant proliferation

A case of acute megakaryocytic leukemia (M7) and one of acute myeloid hemopathy affecting megakaryocytic and erythrocytic cell lineages in infants are reported. Both patients had t(1;22)(p12-p13;q13). This translocation was previously observed in a congenital M7 leukemia. These studies suggest that t(1;22) translocation can be nonrandom in M7.     

A case of atypical myelodysplastic syndrome with micromegakaryocytes,normal platelet count,and t(3;12)(q21;p13) with inv(3)(q21q26)

A 49-year-old woman patient with atypical myelodysplastic syndrome (MDS) showing a der(3)t(3;12)(q21;p13), and der(12)t(3;12)(q21;p13)inv(3)(q21q26) as an acquired chromosomal abnormality in the bone marrow is described. The chromosomal breakpoints of the presented complex aberration with combination of the inv(3)(q21q26) and t(3;12)(q21;p13) were defined by fluorescence in situ hybridization (FISH) with yeast artificial chromosomes (YACs). The inv(3) is a relatively frequent chromosomal rearrangement in patients with myeloid malignancies and dysmegakaryopoiesis and t(3;12)(q26;p13) has also been reported as a recurrent abnormality in MDS and in blast crisis of chronic myelogenous leukemia (CML). Whereas the t(3;12), inv(3), and t(3;3) are associated with a very poor prognosis, our patient surprisingly had a mild clinical course. Genes Chromosomes Cancer 20:292–298, 1997. © 1997 Wiley-Liss, Inc.     

Reciprocal translocation t(3;12)(q27;q13) in lipoma

A reciprocal translocation, t(3;12)(q27;q13), was found as the sole karyotypic abnormality in an intramuscular lipoma. The morphology of the derivative 3q+ was strongly reminiscent of the large ring marker we have previously described in three other lipomas, indicating a pathway through which the rings may have arisen. These data, combined with the previous preliminary report by Turc-Carel et al. of a similar t(3;12) in another lipoma strongly suggest that this rearrangement may be a characteristic cytogenetic marker in benign lipogenic tumors.