Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We analyzed 23 patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) showing a der(1;7)(q10;p10) [hereafter der(1;7)] to identify the exact predictive factor of this cytogenetic change. Eight (34.8%) patients, including six with MDS and two with AML patients, had a previous history of genotoxic exposure, especially radiation and/or antimetabolites. Patients with der(1;7) consisted of three groups: one third of patients had a previous history of genotoxic agents, one third had additional cytogenetic changes at the time of MDS/AML diagnosis without previous exposure history, and the remaining one third had neither a previous exposure history nor additional cytogenetic changes. The current study demonstrated that the poor outcome of MDS/AML with der(1;7) is caused by the high frequency of associated risk factors (i.e., previous history of genotoxic exposure, the presence of additional cytogenetic changes, or both). Identification of prognostic disadvantage might be required for applying the appropriate strategy in managing MDS/AML patients with rare der(1;7) abnormality.
 ...
PMID:Additional cytogenetic changes and previous genotoxic exposure predict unfavorable prognosis in myelodysplastic syndromes and acute myeloid leukemia with der(1;7)(q10;p10). 1652 11

Fluorescence in situ hybridization and comparative genomic hybridization characterized 6p rearrangements in eight primary and in 10 secondary myeloid disorders (including one patient with Fanconi anemia) and found different molecular lesions in each group. In primary disorders, 6p abnormalities, isolated in six patients, were highly heterogeneous with different breakpoints along the 6p arm. Reciprocal translocations were found in seven. In the 10 patients with secondary acute myeloid leukemia/myelodysplastic syndrome (AML/MDS), the short arm of chromosome 6 was involved in unbalanced translocations in 7. The other three patients showed full or partial trisomy of the 6p arm, that is, i(6)(p10) (one patient) and dup(6)(p) (two patients). In 5/7 patients with unbalanced translocations, DNA sequences were overrepresented at band 6p21 as either cryptic duplications (three patients) or cryptic low-copy gains (two patients). In the eight patients with cytogenetic or cryptic 6p gains, we identified a common overrepresented region extending for 5-6 megabases from the TNF gene to the ETV-7 gene. 6p abnormalities were isolated karyotype changes in four patients. Consequently, in secondary AML/MDS, we hypothesize that 6p gains are major pathogenetic events arising from acquired and/or congenital genomic instability.
 ...
PMID:Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia. 1661 24

Chromosomal abnormalities characterize the biological behavior of acute myeloid leukemia (AML), also facilitating the identification of genes responsible for its development and/or progression. Isochromosome 5p, i(5p), represents a rare chromosomal abnormality described, to date, in only a few AML cases. In almost all the cases reported, the i(5p) was accompanied by other abnormalities. Here, a new case of AML, evolved from a myelodysplastic syndrome (MDS) with a clonal trisomy 8, is reported. The case presented the following karyotype: 46, XY[15]/47, XY, +8[4]/47,XY, +1(5) (p10)[3]/ 48,XY,+i(5)(p10)+8[3]. To our knowledge, this is the first reported case of AML to present a clone with an isolated i(5p). The cytogenetic findings supported the hypothesis that i(5p) may represent a primary abnormality, which characterizes a small subset of AML cases.
 ...
PMID:Gain of an isochromosome 5p: a rare recurrent abnormality in acute myeloid leukemia. 1672 70

Therapy-related myelodysplastic syndrome (MDS) is a major problem in long-term cancer survivors, therefore early detection and prevention of therapy-related secondary neoplasia is an important issue. We searched for therapy-related MDS and analyzed cytogenetic changes in 155 patients with multiple myeloma (MM) from a single institution. Of the total 155 MM patients with cytogenetic results, 7 patients showed de novo appearance of myeloid-related cytogenetic changes, and 5/7 had -7/7q-, including 3 with der(1;7)(q10;p10): 3 patients developed MDS (i.e. 2 patients with der(1;7)(q10;p10) and 1 with a complex abnormality including -5 and 7q-). Among five patients receiving more than 2 g of melphalan, three developed MDS, and two of them showed der(1;7)(q10;p10) before or at the time of MDS diagnosis. Although morphologic identification of MDS was difficult in some cases, we concluded that the presence of 7q-, specifically der(1;7)(q10;p10), during chemotherapy involving melphalan for MM patients might indicate hidden MDS status and appropriate therapeutic options should be considered for such patients.
 ...
PMID:Derivative (1;7)(q10;p10) in multiple myeloma. A sign of therapy-related hidden myelodysplastic syndrome. 1673 12

We report a patient with myelodysplastic syndrome (refractory anemia) showing the karyotype 46,XY,+1,der(1;10)(q10;p10), resulting in trisomy 1q and monosomy 10q abnormality. This finding suggests that either trisomy of 1q or centromeric connection between chromosomes 1 and 10, rather than the absence of 10q, might be essential toward neoplastic transformation.
 ...
PMID:Recurrent unbalanced whole-arm t(1;10)(q10;p10) in myelodysplastic syndrome: a case report and literature review. 1721 27

The unbalanced translocation, der(1;7)(q10;p10), is one of the characteristic cytogenetic abnormalities found in myelodysplastic syndromes (MDS) and other myeloid neoplasms. Although described frequently with very poor clinical outcome and possible relationship with monosomy 7 or 7q- (-7/7q-), this recurrent cytogenetic abnormality has not been explored fully. Here we analyzed retrospectively 77 cases with der(1;7)(q10;p10) in terms of their clinical and cytogenetic features, comparing with other 46 adult -7/7q- cases without der(1;7)(q10;p10). In contrast with other -7/7q- cases, where the abnormality tends to be found in one or more partial karyotypes, der(1;7)(q10;p10) represents the abnormality common to all the abnormal clones and usually appears as a sole chromosomal abnormality during the entire clinical courses, or if not, is accompanied only by a limited number and variety of additional abnormalities, mostly trisomy 8 and/or loss of 20q. der(1;7)(q10;p10)-positive MDS cases showed lower blast counts (P<0.0001) and higher hemoglobin concentrations (P<0.0075) at diagnosis and slower progression to acute myeloid leukemia (P=0.0043) than other -7/7q- cases. der(1;7)(q10;p10) cases showed significantly better clinical outcome than other -7/7q cases (P<0.0001). In conclusion, der(1;7)(q10;p10) defines a discrete entity among myeloid neoplasms, showing unique clinical and cytogenetic characteristics.
 ...
PMID:Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms. 1731 20

Though X chromosome anomalies are uncommon in hematologic malignancies, isodicentric X chromosomes, idic(X)(q13), with break and fusion points at Xq13 are well known among older females with de novo myelodysplasia. In contrast, only 17 patients with X isochromosomes involving break and fusion points at the centromere i(X)(p10) have been published, to our knowledge. We present 14 new patients with i(X)(p10) identified by G-banding and further characterized by fluorescence in situ hybridization (FISH) using probes for the X p-arm, X alpha-satellite DNA (DXZ1), and the XIST gene (Xq13). These anomalies each had an X p-arm probe signal on either side of a single centromeric FISH signal, thus they are monocentric isochromosomes. On the basis of FISH, the following three centromeric patterns were identified: (1) centromere signal same size as normal X, (2) centromere signal larger than normal X, and (3) centromere signal smaller than normal X. These centromere patterns may be related to the mechanism of i(X)(p10) formation. In 9 (64%) of 14 patients, the i(X)(p10) was the sole anomaly, attesting to its pathogenic potential. Our series, when collated with information on previously reported cases of i(X)(p10), show that this anomaly is associated with females with a median age 74 years, though patients from 3.75 to 49 years, including a 17-year-old in the present cohort, have been described. i(X)(p10) is observed in a wide range of hematologic malignancies, including myeloid and lymphoid disorders, as well as a patient with therapy-related AML in the present series. i(X)(p10) has been reported in occasional males, indicating that this anomaly can arise from active X chromosomes. It is not known whether i(X)(p10) arises randomly from the active or inactive X chromosome in female patients.
 ...
PMID:Isochromosome (X)(p10) in hematologic disorders: FISH study of 14 new cases show three types of centromere signal patterns. 1798 Dec 11

We describe here two cases of myelodysplastic syndrome (MDS) with a novel unbalanced translocation der(5;19)(p10;q10). Both patients had complex karyotypes including der(5;19) accompanied by an extra chromosome 19, resulting in deletion of the whole long arm of chromosome 5. Furthermore, these patients presented several common clinical and hematological characteristics: MDS subtypes as refractory anemia with excess of blasts (RAEB)-1 or RAEB-2, marked anemia and thrombocytopenia without neutropenia, leukoerythroblastosis, trilineage dysplasia with prominent dyserythropoiesis, CD7 expression in blasts, and association with abnormalities of chromosomes 6, 17 and 18. These findings indicate that der(5;19)(p10;q10) may play a crucial role in the pathogenesis of high-risk MDS as a rare but recurrent translocation.
 ...
PMID:Unbalanced whole-arm translocation der(5;19)(p10;q10) is a novel and recurrent cytogenetic aberration in myelodysplastic syndrome. 1882 9

The der(1;7)(q10;p10) aberration is observed in about 1-3% of the myelodysplastic syndromes (MDS) and less commonly in acute myeloid leukemia (AML) and the myeloproliferative disorders. This unbalanced translocation is considered a "variant" of the del(7q)/-7 subgroup and has been assigned a poor risk karyotype score in the MDS International Prognostic Scoring System (IPSS). Recent reports suggest der(1;7) MDS should be considered a discrete MDS subgroup with an intermediate, not poor, karyotype score. At the City of Hope, we compared the clinical-pathologic features of 12 der(1;7) MDS patients to 51 MDS patients with del(7q) (n=10) or -7 (n=41), selected for a similar frequency of secondary aberrations. The der(1;7) patients showed older age at diagnosis, lower platelet counts, less trilineage dysplasia, and lower blast counts. The der(1;7) patients did not differ from del(7q)/-7 patients in subtypes of MDS by World Health Organization, French-American-British classifications, or bone marrow cellularity. Neither the proportion of therapy-related MDS nor the transformation to AML differed significantly among the three subgroups. Five-year survival rates for der(1;7), del(7q), and -7 (44.4, 32.0, and 23.6%, respectively) did not differ significantly (P=0.94). While der(1;7) MDS is associated with some clinically distinctive features, reassignment of risk category based on these data would be premature.
 ...
PMID:Does MDS with der(1;7)(q10;p10) constitute a distinct risk group? A retrospective single institutional analysis of clinical/pathologic features compared to -7/del(7q) MDS. 1966 67

Therapy-related myelodysplastic syndrome and acute leukemia after treatment with temozolomide have rarely been described in the literature. Only 10 cases in association with temozolomide have been documented. The cases included anaplastic astrocytoma (4 cases), anaplastic oligodendroglioma (2 cases), low grade astrocytoma (2 cases), low grade oligodendroglioma (1 case), and one case of secondary Philadelphia-positive acute lymphoblastic leukemia in a patient with glioblastoma multiforme. Here we report a novel case of therapy-related myelodysplastic syndrome/acute myeloid leukemia associated with der(1;7)(q10;p10) in a glioblastoma multiforme patient treated with temozolomide. Results of bone marrow morphology, chromosome, and fluorescent in situ hybridization (FISH) analyses, as well as the clinical history, strongly suggest a treatment-related etiology in our case. In past reports, karyotypes in cases of therapy-related myelodysplastic syndrome/acute myeloid leukemia mostly demonstrated abnormalities in chromosomes 5 and 7. However, we report a case of temozolomide-related myelodysplastic syndrome/acute myeloid leukemia with der(1;7)(q10;p10), possibly the first reported case, to the authors' knowledge.
 ...
PMID:Therapy-related myelodysplastic syndrome/acute myeloid leukemia after treatment with temozolomide in a patient with glioblastoma multiforme. 1988 Jul 68


<< Previous 1 2 3 4 5 Next >>