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

Many cancers comprise heterogeneous populations of cells at primary and metastatic sites throughout the body. The presence or emergence of distinct subclones with drug-resistant genetic and epigenetic phenotypes within these populations can greatly complicate therapeutic intervention. Liquid biopsies of peripheral blood from cancer patients have been suggested as an ideal means of sampling intratumor genetic and epigenetic heterogeneity for diagnostics, monitoring and therapeutic guidance. However, current molecular diagnostic and sequencing methods are not well suited to the routine assessment of epigenetic heterogeneity in difficult samples such as liquid biopsies that contain intrinsically low fractional concentrations of circulating tumor DNA (ctDNA) and rare epigenetic subclonal populations. Here we report an alternative approach, deemed DREAMing (Discrimination of Rare EpiAlleles by Melt), which uses semi-limiting dilution and precise melt curve analysis to distinguish and enumerate individual copies of epiallelic species at single-CpG-site resolution in fractions as low as 0.005%, providing facile and inexpensive ultrasensitive assessment of locus-specific epigenetic heterogeneity directly from liquid biopsies. The technique is demonstrated here for the evaluation of epigenetic heterogeneity at p14(ARF) and BRCA1 gene-promoter loci in liquid biopsies obtained from patients in association with non-small cell lung cancer (NSCLC) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN), respectively.
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PMID:DREAMing: a simple and ultrasensitive method for assessing intratumor epigenetic heterogeneity directly from liquid biopsies. 2630 49

It is generally accepted that the short arm of chromosome 6 is a likely site to be involved in chromosomal rearrangements of MDS/ANLL following radio/chemotherapy. We report here two cases of t(3;6)(p14;p22). One patient is a 55 years old male with a previous history of occupational exposure who developed, an acute megakaryoblastic leukemia after a preleukemic phase. Chromosome analysis showed a t(3;6)(p14;p22), associated with del (5)(q14q31), -7, with variations and a trend to hypoploidy. The second patient is a 33 years old man, with chronic myeloid leukemia treated with Hydroxyurea (HU), HU + $aL-IFN and $aL-IFN alone. The first cytogenetic study before treatment, showed a t(9;22)(q34;q11). In the following months the patient had simultaneously t(9;22)(q34;q11) + t(3;6)(p14;p22) in a minority and thereafter in all the mitoses, with progressive deterioration, megakaryocyte abnormalities, but no blast crisis. Our patients are compared with the only 5 other published cases with t(3;6)(p14;p22), who shared some common features, namely a past history of chemo/radiotherapy or exposure to chemical mutagens and an association with other, so-called "secondary" chromosome aberrations, on segments 3p, 5q, 7q, 12p and 17p. We suggest that this uncommon translocation t(3;6) is nonrandom. It is worth noting that band 6p21 is the site of pim 1 oncogen, and that a fragile site is located on band 3p14.
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PMID:Two Cases of Translocation t(3;6)(p14;p22): A Non Random Chromosomal Abnormality? 2746 55

Few hematological complications have previously been reported in association with Cri du Chat syndrome (CdCS). A case of myelodysplastic syndromes (MDS) in a pediatric patient with CdCS is herein presented. A 17-year-old female with CdCS caused by ring chromosome 5 was admitted to the hospital for investigation of a 1-month history of anemia. Based on the morphological findings of bone marrow, the patient was diagnosed with refractory cytopenia with multilineage dysplasia. The risk group was classified as intermediate-1 in the International Prognostic Scoring System (IPSS), and low in the revised IPSS. Assessment by microarray comparative genomic hybridization (CGH) identified the breakpoints of ring chromosome 5 as 46,XX,r(5)(p14.3q35.3). This revealed that the 5q terminal deletion did not include the common deleted region of MDS with del(5q). Treatment with azacitidine was initiated to control disease progression and improve quality of life. At baseline, the patient had a mean transfusion requirement of 3 units/month, which decreased to 2 units/month after six cycles of azacitidine and to 1 unit/month after 10 cycles of azacitidine. Cytopenia observed in the presented case seemed irrelevant to ring chromosome 5 which is the causative cytogenetic abnormality of CdCS, and further analyses may be needed to clarify the pathogenesis.
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PMID:Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5. 3251 73


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