Complex translocation involving Ph chromosome in a patient with typical chronic myelogenous leukemia.

We report a cytogenetic study of a patient with chronic myelogenous leukemia (CML) who, while displaying a Philadelphia (Ph) chromosome, resulting from a standard t(9;22) at diagnosis, during the chronic phase (CP) showed disappearance of the Ph and occurrence of new chromosome changes, including a marker probably arising from a translocation involving chromosome 17 and the Ph. In situ hybridization confirmed the cytogenetic appearance and demonstrated that the breakpoint on the Ph marker occurred below the BCR-ABL fusion gene.     

Masked Ph chromosome due to a new type of translocation in a patient with chronic myelogenous leukemia

A chronic myelogenous leukemia patient with a masked Ph chromosome due to a new type of translocation, t(9;11;22)(q34;p11;q11), is reported.     

Chronic myelogenous leukemia with a complex translocation

A case of Philadelphia chromosome (Ph¹)-positive chronic myelogenous leukemia (CML) with a complex translocation involving chromosomes #3, #9, and #22 is described. All cells in the bone marrow showed this rearrangement and Q-banding analysis showed the karyotype to be 46, XX, t(3;9;22) (p21;q34;q11). This is the third reported case of a 3/9/22 rearrangement in the Ph¹-positive CML in which the break points and direction of transposition of chromosome segments are identical.     

Erythrocytosis and complex Ph translocation 46,XY,t(9;11;22) in a patient with chronic myelogenous leukemia

A case of chronic myelogenous leukemia in the chronic phase with erythrocytosis and a complex Ph translocation is described. The karyotype was 46,XY,t(9;11;22)(q34;q13;q11). The granulocytic and erythroid overgrowth was controlled by busulfan therapy.     

Clinical and cytogenetic features in six patients with chronic myelogenous leukemia and a complex Philadelphia translocation

Six patients with chronic myelogenous leukemia and a complex Philadelphia (Ph1) translocation are described. The complex Ph1 translocations were a three-way translocation in five patients and a five-way translocation in one. Additional chromosomal aberrations were detected in four of five patients when the blastic crisis supervened. The median survival time was 42 months. The remaining patient died of acute myocardial infarction 23.5 months after the diagnosis of CML was made. There seems no difference between these six patients and those with the standard Ph1 with respect to clinical, hematologic and cytogenetic findings.     

A variant 15;17 translocation in a patient with acute promyelocytic leukemia

We report a 36-year-old male with typical features of acute promyelocytic leukemia (APL) in whom a new variant 15;17 translocation, t(8p+;17q-), was found. Using G- and Q- banding techniques, the chromosome breaks were found to be near the junction of 8p12 and 8p21 and band 17q12, respectively. The breakpoint on 17q in our case was similar to that in previously described cases with a standard translocation (15;17). Consequently, this chromosome break or rearrangement at band 17q12, rather than the recipient site of translocation of the deleted material, appears to be of crucial importance in the genesis of APL.     

Complex translocation involving chromosomes #1, #9, and #22 in a patient with chronic myelogenous leukemia

A case of Philadelphia chromosome positive chronic myelogenous leukemia with a complex translocation involving chromosomes #1, #9, and #22 is described. All cells in the bone marrow showed this rearrangement, and Q-banding analysis showed the predominant karyotype to be 46,XY, t(1;9;22)(p22;q34;q11).     

Trisomy 11 in a patient with Ph-negative chronic myelogenous leukemia

A case of Ph-negative chronic myelogenous leukemia associated with functional reduction of platelets is described. Bone marrow cells examined in the blastic phase showed a stem line karyotype of 47,XY,+11.     

Out-of-phase separation of a G-group chromosome in a woman with chronic myelogenous leukemia

This report describes a case of out-of-phase (premature) centromere separation of a G-group chromosome in bone marrow cells of a woman with Ph1-negative, chronic myelogenous leukemia. Attention is drawn to the occurrence of this new cytogenetic anomaly in human disease.     

伴变异型Ph易位的慢性髓细胞白血病的分子遗传学研究

目的探讨荧光原位杂交（fluorescence in situ hybridization，FISH）及多重荧光原位杂交（multiplex FISH．M-FISH）技术在检测伴变异型Ph易位（variant philadelphia translocation，vPh）的慢性髓细胞自血病（chronic myeloid leukemia，CML）中遗传学改变的意义。方法对10例常规R显带显示伴vPh的CML以双色双融合FISH技术检测其染色体标本。对于间期细胞中仅有单个融合信号的标本，观察其中期细胞，以确定是否为衍生9号染色体[der（9）]缺失。同时对这10例CML进行M—FISH技术检测。结果FISH技术在10例伴vPh的CML中检测到5例存在der（9）缺失。M—FISH检测到除22号染色体外，1、3、5、6、8、10、11和17号染色体也参与vPh，发现了常规细胞遗传学未发现的异常，包括2种未见报道的异常。结论对伴vPh的CML联合使用常规细胞遗传学、FISH、M—FISH技术可使遗传学诊断更加完善。     

A new translocation involving chromosomes 8 and 9 in a Philadelphia-negative chronic myelogenous leukemia

A new case is presented displaying typical features of the stable phase of chronic myelogenous leukemia (CML), with a complex translocation involving chromosomes 8q and 9q. Cytogenetic evaluation revealed an abnormal karyotype, 46,XY,t(8;9)(q22;q34). Both chromosomes 22 were found to be cytogenetically normal. After molecular evaluation the cytogenetic diagnosis was revised to 46,XY,t(8;9;22)(q22;q34;q11). The importance of the chimeric abl/bcr gene fusion product in the pathogenesis of CML is suggested as a characteristic feature, even in some patients with a so-called Philadelphia (Ph) negative CML. Utilization of molecular probes in the evaluation of such cases must become a routine diagnostic procedure. Our patient received the potential benefit of Ph-positive directed therapy because of the present approach.     

Breakpoint cluster region rearrangements in chronic myelogenous leukemia with a masked Philadelphia chromosome

Cytogenetic and molecular analyses were performed in a case of chronic myelogenous leukemia. The cytogenetic study revealed that the leukemic cells of this patient contained a three-way translocation involving chromosomes #5, #9, and #22, resulting in a masked Philadelphia chromosome; the karyotype of the leukemic cells was 46,XY,t(5;22;9)(q31;q11;q34). Southern blot analysis of leukemic cell DNA was performed using a 1.1 kb HindIII-EcoRI breakpoint cluster region (bcr) probe. The results showed that BglII digested DNA showed two abnormal bcr fragments (i.e., 5.2 kb and 2.7 kb) in contrast to the results with DNA from two patients with a standard Ph chromosome [t(9;22)(q34;q11)] who showed one normal 5.0-kb bcr fragment in addition to altered fragments of about 4.3 kb or 4.0 kb. Bam HI digests of DNA from the leukemic cells of the patient with the masked Ph chromosome showed two bands (3.3 kb and 6.5 kb), whereas, DNA from the two patients with standard Ph translocations showed only a 3.3-kb bcr fragment. The results indicate that the molecular events in a masked Ph affect the bcr locus in a manner similar to that seen in standard Ph chromosomes.     

Variant Philadelphia chromosome translocations in two patients with chronic myelogenous leukemia

Two patients with chronic myelogenous leukemia and new variant Philadelphia chromosome translocations are reported. In one case, a 41-year-old male, a 10;22 translocation was found in all bone marrow cells examined. Furthermore, the Y chromosome was missing in 90% of the analyzed metaphase cells. In the second patient, a 22-year-old male, all the marrow cells contained a complex rearrangement involving chromosomes No. 2, 9, and 22.     

Chronic myelogenous leukemia with a Philadelphia chromosome resulting from a complex translocation (2; 9; 22), following an undifferentiated acute leukemia

This case report concerns a patient with acute leukemia considered at diagnosis to be undifferentiated. Unfortunately, because of the failure of the culture, a cytogenetic evaluation was not possible at that stage. A full remission was induced, but 17 months after the onset of the disease the patient developed chronic myelogenous leukemia. The karyotypes prepared at that time and during the follow-up revealed the presence of a Philadelphia chromosome (Ph1) in all examined cells. This Ph1 resulted from a complex translocation involving chromosomes No. 2, 9, and 22.