Infant acute lymphoblastic leukemia (ALL) with MLL gene rearrangements is characterized by early pre-B phenotype (CD10(-)/CD19(+)) and poor treatment outcome. The t(4;11). creating MLL-AF4 chimeric transcripts, is the...
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Infant acute lymphoblastic leukemia (ALL) with MLL gene rearrangements is characterized by early pre-B phenotype (CD10(-)/CD19(+)) and poor treatment outcome. The t(4;11). creating MLL-AF4 chimeric transcripts, is the predominant 11q23 chromosome translocation in infant ALL and is associated with extremely poor prognosis as compared with other 11q23 translocations. We analyzed an infant early preB ALL with ins(5;11)(q31;q13q23) and identified the AF5q31 gene on chromosome 5q31 as a fusion partner of the MLL gene. The AF5q31 gene, which encoded a protein of 1,163 aa, was located in the vicinity of the cytokine cluster region of chromosome 5q31 and contained at least 16 exons. The AF5q31 gene was expressed in fetal heart. lung, and brain at relatively high levels and fetal liver at a low level. but the expression in these tissues decreased in adults. The AF5q31 protein was homologous to AF4-related proteins, including AF4, LAF4, and FMR2. The AF5q31 and AF4 proteins had three homologous regions, including the transactivation domain of AF4, and the breakpoint of AF5q31 was located within the region homologous to the transactivation domain of AF4. Furthermore, the clinical features of this patient with the MLL-AF5q31 fusion transcript. characterized by the early pre-B phenotype (CD10(-)/CD19(+)) and poor outcome. were similar to those of patients having MLL-AF4 chimeric transcripts. These findings suggest that AF5q31 and AF4 might define a new family particularly involved in the pathogenesis of 11q23-associated-ALL.
We report a case of a 1-year-old girl with familial pericentric inv(12) who developed acute lymphoblastic leukemia (ALL) with t(4;11) 1 month after recovery from idiopathic hemophagocytic lymphohistiocytosis (HLH). Th...
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We report a case of a 1-year-old girl with familial pericentric inv(12) who developed acute lymphoblastic leukemia (ALL) with t(4;11) 1 month after recovery from idiopathic hemophagocytic lymphohistiocytosis (HLH). The inv(12)(p13q15) was first found in bone marrow (BM) cells when she was diagnosed as haring HLH, and then detected in the BM blasts together with t(4;11)(q21;q23) when she developed ALL. The inv(12) was retained in the BM cells after she achieved complete remission. Cytogenetic analysis on the PHA-stimulated peripheral lymphocytes revealed inc(12) in all of the 30 cells examined. Because the data that ALL with t(4;11) predicts an extremely poor prognosis, she received an allogeneic BM transplantation from an HLA-matched sibling at 10 months from the onset of ALL. She is now at 26 months post transplantation and maintains in a state of complete remission. Familial cytogenetic study demonstrated that 4 of 8 maternal members examined had the inv(12), but they showed no family history of a higher risk of development of hematological and other types of malignancies, suggesting that pericentric inv(12) itself might not be directly involved in the development of ALL in this case. (C) Elsevier Science Inc., 1999. All rights reserved.
A 66-year-old Caucasian woman presented with a Philadelphia chromosome positive common B-cell acute lymphoblastic leukemia and a dic(9;12) involving the der(9)t(9;22), a rearrangement so far not observed in acute lymp...
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A 66-year-old Caucasian woman presented with a Philadelphia chromosome positive common B-cell acute lymphoblastic leukemia and a dic(9;12) involving the der(9)t(9;22), a rearrangement so far not observed in acute lymphoblastic leukemia. The patient was treated for the acute lymphoblastic leukemia, but showed refractory disease and died 6 months after initial diagnosis. This case suggests that, in the combination of t(9;22) and dic(9:12), the known poor prognostic feature of t(9;22) in acute lymphoblastic leukemia may outweigh the favorable outcome reported in patients with dic(9:12). (C) Elsevier Science Inc.. 1999;All rights reserved.
"Jumping" translocations (JT) are relatively rare and are associated with poor prognosis. We report two male patients with childhood acute lymphoblastic leukemia (ALL) and abnormal cell lines detected on bon...
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"Jumping" translocations (JT) are relatively rare and are associated with poor prognosis. We report two male patients with childhood acute lymphoblastic leukemia (ALL) and abnormal cell lines detected on bone marrow cytogenetics. Diagnostic marrow cytogenetics were not available for either patient. In patient 1, approximately 11 years after diagnosis, cytogenetics revealed a single translocation, t(1;2)(q23;q32), which was followed by translocations t(1;22)(q23;p11) and t(1;1)(q23;q21.3). In patient 2, two translocations were present together, t(1;6)(q23;p21.3) and t(1;11)(q23;q21), 12 years after diagnosis. The unbalanced JTs in bath patients resulted in partial trisomy for (1)(q23-->qter). Both died within 1-2 years after the appearance of the JT. Our patients provide additional support for chromosome 1q preferential involvement in JTs, and that their appearance is associated with a poor prognosis. (C) Elsevier Science Inc., 1999. All rights reserved.
11q13 translocation has been described in mantle cell lymphoma in the form of t(11;14) (q13;q32), with rearrangement and over-expression of the cyclin D1 gene. Recently, an association between 11q13 and acute myeloid ...
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11q13 translocation has been described in mantle cell lymphoma in the form of t(11;14) (q13;q32), with rearrangement and over-expression of the cyclin D1 gene. Recently, an association between 11q13 and acute myeloid leukemia is recognized. We describe the occurrence of 11q13 translocations in both acute leukemias and myelodysplastic syndrome, and suggest that other genetic mechanisms unrelated to cyclin D1 may be involved in the tumorigensis, Furthermore, 11q13 appears to be a cytogenetically promiscuous site involved in reciprocal translocations with different chromosomes in both myeloid and lymphoid malignancies. (C) Elsevier Science Inc., 1999. All rights reserved.
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