Myeloproliferative Disorders

Bench, Anthony J.; Vassiliou, George S.; Huntly, Brian J.P.; Green, Andrew

doi:10.1002/9780470987063.ch9

Cited by 9 publications

(13 citation statements)

References 55 publications

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“…40,41 Within the different BCR-ABL-negative CMPD, the rate of aberrant karyotypes is highest in primary myelofibrosis (PMF) with B40%, followed by polycythemia vera (PV) in 30-35% of all cases, whereas in essential thrombocythemia (ET) cytogenetic abnormalities are rare-but the indication for SCT in ET is an exception. [42][43][44] During the transformation process of the CMPD to secondary AML the frequency of cytogenetic abnormalities increases to B80% of cases.…”

Section: Classical and Molecular Cytogeneticsmentioning

confidence: 99%

Minimal residual disease diagnostics in myeloid malignancies in the post transplant period

Bacher

Zander

Haferlach

et al. 2008

Bone Marrow Transplant

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Allogeneic SCT is important in myelodysplastic syndrome, the BCR-ABL-negative chronic myeloproliferative diseases (CMPDs) and in poor-risk AML. Techniques to monitor the minimal residual disease, for example, by PCR or immunophenotyping gain increasing importance in the post transplantation period as basis for improved and earlier therapeutic interventions in impending relapse. Recent markers such as the NPM1 mutations in AML or the JAK2V617F mutation in the CMPD can be exactly quantified by real-time PCR and were evaluated for their prognostic value in the post transplantation phase and for their utility to plan adoptive immunotherapy in case of molecular relapse. With respect to chimerism, new and very sensitive methods were introduced, for example, quantitative assessment of genetic polymorphisms by realtime PCR, but also methods here are still highly individualized. Only in CML, where SCT focuses now on poor-risk cases or cases of tyrosine kinase inhibitor failure, follow-up schedules are standardized. Standardization of the different diagnostic techniques and of the intervals in the post transplantation period is urgently needed also in other myeloid malignancies and should be focus of future studies.

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Section: Classical and Molecular Cytogeneticsmentioning

confidence: 99%

Minimal residual disease diagnostics in myeloid malignancies in the post transplant period

Bacher

Zander

Haferlach

et al. 2008

Bone Marrow Transplant

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“…2) (12). Excessive production of inflammatory cytokines and abnormal neutrophil functions are frequently observed in MDS (22,23 (25). However, BD-like symptoms are not common in patients with MPDs (26), except for those with chronic myelogenous leukemia treated with interferons (27)(28)(29)(30).…”

Section: Hla-b51 One Of the Common Allele Types Among Japanese Has mentioning

confidence: 99%

Myelodysplastic Syndrome Complicated with Inflammatory Intestinal Ulcers: Significance of Trisomy 8

et al. 2006

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“…In contrast to chronic myeloid leukemia, which is clearly defined by the BCR-ABL rearrangement, karyotype abnormalities are found in ∼55% of MDS cases [5,6] and in 5-45% of the Philadelphia negative MPN only [7,8], with the highest frequency in primary myelofibrosis (PMF; ∼35%) and the lowest in essential thrombocythemia (ET; <5%). In the "myelodysplastic/myeloproliferative neoplasm, unclassifiable" category (MDS/MPN, U) where the frequency of chromosomal aberrations is especially difficult to determine, ∼30% frequencies were reported [8].…”

Section: Introductionmentioning

confidence: 97%

“…In the "myelodysplastic/myeloproliferative neoplasm, unclassifiable" category (MDS/MPN, U) where the frequency of chromosomal aberrations is especially difficult to determine, ∼30% frequencies were reported [8]. Most chromosomal aberrations are not specific for single entities [6][7][8] but can occur in MDS as well as in MPN, e.g., gain of chromosome 8, loss of chromosome 7, or 20q deletions [6,7,9]. Such overlaps are also seen on the molecular level: the JAK2V617F mutation, which is observed mainly in the MPN with frequencies of >95% in polycythemia vera (PV) and >50% in ET and PMF [10][11][12][13][14], was also detected in 8-15% of MDS cases, respectively [15].…”

Section: Introductionmentioning

confidence: 99%

Distribution of cytogenetic abnormalities in myelodysplastic syndromes, Philadelphia negative myeloproliferative neoplasms, and the overlap MDS/MPN category

et al. 2009

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(2008), chronic myeloid malignancies are divided in myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), and overlap MDS/MPN cases. From morphological aspects, these categories show overlaps. To evaluate whether these morphological similarities have genetic parallels, we investigated 1,851 cases with suspected/confirmed myelodysplastic or myeloproliferative diseases by chromosome banding and molecular analyses. Cytogenetics revealed aberrant karyotypes in 354 patients (19.1% of the original cohort) who were the basis of further analysis. The distribution of chromosomal aberrations differed significantly between categories. Isolated +9 and gain of 9p were exclusively observed in MPN (+9: 10/93; 11%; p<0.001; +9p: 6/93; 7% of all aberrant MPN cases) but were not detected in MDS or MDS/MPN (p=0.001). Isolated del(5q) (p=0.002), −7 in combination with other aberrations (p=0.016), and complex aberrations (p=0.003) were 2.9-to 7.5-fold more frequent in MDS than in MPN. Trisomies 8 and 21 and del(20q) were comparably frequent in both subgroups. Interestingly, the MDS/MPN overlap cohort showed a higher frequency of −7 accompanied by other aberrations (3/17; 18% of all aberrant cases; p=0.001), i(17)(q10) (2/17; 12%; p=0.013), and +21 (2/17; 12%; p=0.013) when compared to MPN or MDS only. These differences support the category for MDS/MPN within the new WHO classification. Overlaps between the diverse disorders were seen also for the JAK2V617F (MPN 66/89; 74%; MDS/MPN 4/14; 29%; MDS 2/63; 3%) and NRAS mutations (MDS 2/67; 3%; MPN 2/4; MDS/MPN 1/1). In conclusion, cytogenetics and molecular genetics show overlaps in varying proportions of MDS and MPN cases which might indicate common pathways in their etiology. Some markers are strongly associated with one of these disorders and can be helpful for differential diagnosis especially in difficult cases.

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Myeloproliferative Disorders

Cited by 9 publications

References 55 publications

Minimal residual disease diagnostics in myeloid malignancies in the post transplant period

Minimal residual disease diagnostics in myeloid malignancies in the post transplant period

Myelodysplastic Syndrome Complicated with Inflammatory Intestinal Ulcers: Significance of Trisomy 8

Distribution of cytogenetic abnormalities in myelodysplastic syndromes, Philadelphia negative myeloproliferative neoplasms, and the overlap MDS/MPN category

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