1/24. blast crisis of Ph-positive chronic myeloid leukemia with isochromosome 17q: report of 12 cases and review of the literature.Isochromosome 17q [i(17q)] is frequently observed in the blast crisis (BC) of chronic myelogenous leukemia (CML). It has been suggested that this chromosome abnormality is associated with special hematological characteristics of the BC, but the information on this subject is scarce. The clinical, hematological and cytogenetic features of patients with i(17q) were analyzed in a series of 121 patients with BC of Ph-positive CML. Twelve patients (10%) displayed an i(17q), representing the third commonest cytogenetic abnormality, after trisomy 8 and Ph chromosome duplication. In seven of the 12 patients the BC was preceded by an accelerated phase, and 10 had more than 10% blood basophils at BC diagnosis. The blast cells had a myeloid phenotype in the 12 patients. Five patients exhibited cytogenetic abnormalities in addition to i(17q), with trisomy 8 and duplication of the Ph chromosome being the alterations most frequently observed. Median survival of patients with i(17q) was 22 weeks, which was not significantly different from the survival of patients with myeloid BC in the overall series. These results are similar to the findings in 181 patients with i(17q) from 12 series of the literature, and confirm the special hematologic profile of BC of CML with this cytogenetic abnormality.- - - - - - - - - - ranking = 1keywords = leukemia, myeloid leukemia (Clic here for more details about this article) |
2/24. Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders.Shwachman syndrome (SS) is an autosomal recessive disorder in which bone marrow dysfunction is observed, with development of myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML) in up to one third of the cases. Inconclusive data are available as to increased chromosome breakage in SS, while chromosome 7 anomalies, and often an isochromosome (7)(q10), are frequent in cases with MDS/AML. We report on the consistent presence of an i(7)(q10) in the bone marrow and blood lymphocytes in one of two sisters affected with SS without any clinical or cytological signs of MDS/AML. Thus, this patient was either a case of constitutional mosaicism for the i(7)(q10), or this had to be acquired in a nondysplastic and non-neoplastic marrow clone. dna polymorphism analysis demonstrated the paternal origin of the i(7q). We postulate that the SS mutation acts as a mutator gene, and causes karyotype instability; abnormal clones would thus arise in the marrow, and chromosome 7 anomalies, i(7q) in particular, will in turn lead to MDS/AML. If this interpretation is correct, it would be also an indication to consider chromosome 7 anomalies in general, out of SS, as primary changes in MDS/AML pathogenesis.- - - - - - - - - - ranking = 0.20705658634865keywords = leukemia, myeloid leukemia (Clic here for more details about this article) |
3/24. Isodicentric 7p, idic(7)(q11.2), in acute myeloid leukemia associated with older age and favorable response to induction chemotherapy: a new clinical entity?Three adult de novo acute myeloid leukemias (AML M1, M2, and M4) with an isochromosome 7p are presented. No additional abnormalities were detected by G-band and multicolor, using combined binary ratio labeling, fluorescence in situ hybridization (FISH) analyses, indicating that the i(7p) was the sole, i.e., the primary, chromosomal aberration. Although the patients were elderly--68, 72, and 78 years old--they all responded very well to chemotherapy, achieving complete remission lasting more than a year. Further FISH analyses, using painting, centromeric, as well as 7q11.2-specific YAC probes, revealed that the i(7p) contained two centromeres and that the breakpoints were located in 7q11.2. Thus, the abnormality should formally be designated idic(7)(q11.2). The detailed mapping disclosed a breakpoint heterogeneity, with the breaks in 7q11.2 varying among the cases, being at least 1,310 kb apart. Furthermore, the breakpoints also differed within one of the cases, being located on both the proximal and the distal side of the most centromeric probe used. Based on our three patients, as well as on a previously reported 82-year-old patient with AML M2 and idic(7)(q11) as the only chromosomal change, we suggest that this abnormality, as the sole anomaly, is associated with AML in elderly patients who display a good response to induction chemotherapy and, hence, have a favorable prognosis. Furthermore, the heterogeneous breakpoints in 7q11.2 suggest that the important functional outcome of the idic(7)(q11.2) is the genomic imbalance incurred, i.e., gain of 7p and loss of 7q material, rather than a rearrangement of a specific gene.- - - - - - - - - - ranking = 1.0352829317433keywords = leukemia, myeloid leukemia (Clic here for more details about this article) |
4/24. Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia.In acute myeloid leukemia (AML) close associations are known between cytomorphology and cytogenetics such as in AML M3/M3v showing a t(15;17) and in AML M4eo associated with inv(16)/t(16;16). In AML M5 a heterogenous cytogenetic pattern is observed. We describe the gain of an isochromosome of the short arm of chromosome 5 together with the gain of chromosome 8 as the sole abnormalities in two cases of acute monoblastic leukemia. In a third case of acute monoblastic leukemia we also observed the gain of an isochromosome 5p together with trisomy 8. This patient showed in addition an unbalanced translocation between the long arm of chromosome 1 and the short arm of chromosome 14 leading to a trisomy 1q. So far only two cases of AML with i(5)(p10) have been published. In no other hematological malignancy has an isochromosome 5p been reported up to now. As an isochromosome 5p can be misinterpreted as a deletion 5q, which occurs frequently in AML, fluorescence in situ hybridization with loci specific probes is a helpful method to detect this rare abnormality.- - - - - - - - - - ranking = 1.237698513981keywords = leukemia, myeloid leukemia (Clic here for more details about this article) |
5/24. Isochromosome (17)(q10) and translocation (4;12)(q12;p13) in a child with acute myeloid leukemia.Isochromosome 17q is a commonly observed cytogenetic aberration in hematologic malignancies. Isolated isochromosome 17q usually presents as a marker of a chronic myeloid disorder, with a high propensity for transformation into acute nonlymphoblastic leukemia (ANLL). t(4;12)(q11-12;p13) is a recently described translocation, associated with ANLL, predominantly in adults. In this article, we present a case of acute myeloblastic leukemia (AML) in a 14-year-old female in which i(17q) and t(4;12)(q12;p13) were found in the leukemic clone at diagnosis. We briefly review the literature and hypothesize as to the significance of the coexistence of these cytogenetic changes.- - - - - - - - - - ranking = 1.1717736546054keywords = leukemia, myeloid leukemia (Clic here for more details about this article) |
6/24. Pentasomy 8q resulting from duplication of isochromosome 8q in chronic myelomonocytic leukemia.We report an interesting case of chronic myelomonocytic leukemia (CMML) with pentasomy 8q resulting from the duplication of isochromosome 8q in a 47-year-old male. His blood picture and myelogram showed CMML and the chromosome study, using R-banding and G-banding techniques, revealed a karyotype of 47,XY,-8, i(8)(q10)x2. Dual-color fluorescence in situ hybridization (FISH) studies with a #8 centromeric probe and a locus-specific probe for C-myc gene completely confirmed the result of the conventional cytogenetic method. reverse transcription polymerase reaction (RT-PCR) revealed no BCR/ABL fusion transcript. hydroxyurea and 6-mercaptopurine therapy did not induce a complete remission and five months later he died of exacerbation of his disease. On reviewing another two cases with pentasomy 8q in the literature, we feel that pentasomy 8q, when present as a sole anomaly, may play a specific role in leukemogenesis and in determining the clinical characteristics such as monocytic involvement and poor prognosis.- - - - - - - - - - ranking = 0.85886827302695keywords = leukemia (Clic here for more details about this article) |
7/24. Intermittent 20q- and consistent i(7q) in a patient with Shwachman-diamond syndrome.Shwachman diamond syndrome (SDS) is a genetic disorder characterized by pancreatic hypoplasia, recurrent infection and bone marrow dysfunction. Some cases have an abnormality of chromosome 7, such as isochromosome 7q (i(7q)), which may be associated with the development of leukemia. We present a boy who was diagnosed with SDS at 19 months of age. From age 5-14 years, bone marrow cytogenetics has shown a consistent abnormality - i(7q), with an intermittent separate abnormality - deletion 20q, from age 11 years. During this time, the boy has been clinically well without leukemic signs, managed conservatively. We suggest that deletion 20q may be a non random secondary change in SDS with i(7q).- - - - - - - - - - ranking = 0.17177365460539keywords = leukemia (Clic here for more details about this article) |
8/24. Transient myelodysplastic syndrome associated with isochromosome 7q abnormality.Myelodysplastic syndrome (MDS) in childhood is a rare hematological condition that is often associated with cytogenetic abnormalities, the most common being monosomy 7/del(7q). The clinical course of MDS can vary from stable disease to rapid progression into acute leukemia. Rarely, spontaneous remission of MDS has been observed. The authors report the first case of a transient MDS associated with a clonal marrow cytogenetic abnormality consisting of isochromosome 7q in a previously well child. Without intervention, the bone marrow cytogenetics reverted to normal and there was complete hematologic recovery. This case illustrates the importance of close follow-up in a child presenting with MDS, to detect spontaneous recovery or evolution of the disease.- - - - - - - - - - ranking = 0.17177365460539keywords = leukemia (Clic here for more details about this article) |
9/24. A case of down syndrome with acute lymphoblastic leukemia and isochromosome Xp.A 3-year, 9-month-old girl with trisomy 21 was diagnosed with acute lymphoblastic leukemia (ALL). The karyotype of her leukemic cells at diagnosis-48,XX, i(X)(p10), 21c-included an extra, structurally abnormal x chromosome as the sole acquired abnormality. While an extra x chromosome is a common abnormality in childhood ALL, it is seldom the only acquired aberration. Furthermore, an additional x chromosome that is structurally abnormal is rare, and has not been reported previously as a solitary abnormality. Here we report a novel karyotype in childhood ALL and review the eight previously described cases of ALL with an extra X isochromosome as the only acquired abnormality.- - - - - - - - - - ranking = 0.85886827302695keywords = leukemia (Clic here for more details about this article) |
10/24. Isochromosome of a deleted 20q: a rare but recurrent chromosome abnormality in myelodysplastic syndromes.Interstitial deletion of the long arm of chromosome 20, as the sole abnormality, is commonly observed in myeloid malignancies, including myeloproliferative disorder, myelodysplastic syndrome, and acute myeloid leukemia. The breakpoints of the deletion are typically located in the region 20q11.2 approximately q13.3, although smaller deletions within this region have also been reported. We present here 4 patients with myelodysplastic syndrome with an isochromosome of the deleted long arm of chromosome 20: ider(20)(q10)del(20)(q11q13). fluorescence in situ hybridization studies were performed on the bone marrow samples from these patients to prove the identity of this unusual chromosome abnormality.- - - - - - - - - - ranking = 0.20705658634865keywords = leukemia, myeloid leukemia (Clic here for more details about this article) |
| | Next -> |