A chromosomal profile of polycythemia vera

Rege‐Cambrin, Giovanna; Mecucci, Cristina; Tricot, Guido; Michaux, Jean‐Louis; Louwagie, A.; Hove, W. Van; Francart, Hugo; Berghe, Herman Van den

doi:10.1016/0165-4608(87)90183-x

Cited by 105 publications

(46 citation statements)

References 27 publications

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“…[53][54][55][56] Although no specific abnormality has been reported to date, less than 20% of patients have chromosomal abnormalities in the bone marrow at the time of diagnosis 54,55,58 and the use of interphase FISH does not appear to significantly increase the detection rate in untreated patients. 59 The common changes at presentation are trisomies for 1q, 8, 9, as well as del (20)(q11), 53,54 although many different changes have been associated with PV.…”

Section: Polycythaemia Veramentioning

confidence: 99%

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Reilly

2008

Leukemia

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The frequency of cytogenetic abnormalities in the Philadelphianegative myeloproliferative neoplasms (MPNs) varies from approximately 30% in primary myelofibrosis (PMF) to less than 5% in essential thrombocytosis (ET). The spectrum of aberrations is heterogeneous, ranging from gains and losses of genetic material to structural changes including unbalanced translocations. However, no specific abnormality has been identified to date. Nevertheless, such investigations can provide evidence of clonality and, as a result, cytogenetic findings have been included in the WHO diagnostic criteria for this group of diseases. The aim of the current review is to discuss the pathogenetic insight and prognostic information that standard, as well as molecular cytogenetic analysis has provided. A brief overview is given of the cytogenetic findings in the individual diseases, followed by a more detailed discussion of the possible pathogenetic consequences of specific abnormalities and their impact on prognosis.

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Section: Polycythaemia Veramentioning

confidence: 99%

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Reilly

2008

Leukemia

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“…Among the most frequent are 9pUPD, numerical aberrations of chromosomes 1, 8 and 9, deletions of chromosomes 5q, 13q and 20q and frequent gains of 9p. 23,[64][65][66][67][68][69][70][71][72][73][74] Except 9pUPD, most of these cytogenetic aberrations are often present in other clonal myeloid disorders (myelodysplastic syndrome, CML and acute myeloid leukemia) and therefore, their role in the pathogenesis of hematological malignancies may be more universal. Tumor growth is considered to be a result of clonal evolution driven by sequential acquisition of somatic mutations.…”

Section: Cytogenetic Aberrations Of Mpn Are Shared With Other Clonal mentioning

confidence: 99%

Genetic complexity of myeloproliferative neoplasms

Královics

2008

Leukemia

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Oncogenic mutations in JAK2 and MPL genes have recently been identified in myeloproliferative neoplasms (MPNs). In addition to these mutations, cytogenetic aberrations are frequently present at diagnosis but their role in the pathogenesis remains unclear. Two models of MPN pathogenesis have recently emerged based on either a single-hit or a multi-hit concept. The first model proposes that the acquisition of JAK2 mutations is the disease-initiating event, causing both the onset of disease phenotype and establishment of clonal hematopoiesis. The second model postulates the existence of 'pre-JAK2' mutations that establish clonal hematopoiesis before acquisition of JAK2 mutations and onset of disease phenotype. In this review, the two models have been critically evaluated in the context of the latest findings. At present, neither of the two models can be universally applied to all MPN patients due to their genetic heterogeneity. It is likely that the disease pathogenesis in some patients follows the first, and in other patients, the second model. Thus, the somatic mutations in MPN do not seem to be acquired in a predetermined order as seen in other malignancies, but occur randomly. Furthermore, the role of uniparental disomy in MPN and certain aspects of MPN therapy are discussed.

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“…Previous reports indicate that during the progression of PV, 38-56 % of patients may develop karyotype abnormalities [5]. It is believed that genetic alterations may be one of the initial factors causing leukemic transformation.…”

Section: Discussionmentioning

confidence: 99%

Acute Lymphoblastic Leukemia in the Course of Polycythemia Vera: A Case Report and Review of Literature

Shen

et al. 2015

Indian J Hematol Blood Transfus

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Introduction Polycythemia vera (PV) is one of the most common forms of myeloproliferative neoplasms. Acute myeloid leukemia secondary to PV is well reported, and the mechanism has been clarified to some extent. Only a limited number of cases have been reported about the development of acute lymphoblastic leukemia (ALL) in the course of PV, and the possible underlying mechanism has not been explored well. Case presentation A 75-year-old patient who developed ALL 3 years after he was diagnosed with PV. The presence of remarkable splenomegaly, typical immunophenotyping of the peripheral blood and increased expression of serum fibrosis markers indicated the existence of extramedullary hematopoiesis which may ascribe to myelofibrosis. After the treatment of dosage-modulated chemotherapy, the patient got complete remission. Conclusion The JAK2 mutation may the underlying factor that contributes to the development of ALL, and the existence of MF may indicate the progression to postpolycythemic MF, which may be a risk factor for the accelerated transformation.

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A chromosomal profile of polycythemia vera

Cited by 105 publications

References 27 publications

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Genetic complexity of myeloproliferative neoplasms

Acute Lymphoblastic Leukemia in the Course of Polycythemia Vera: A Case Report and Review of Literature

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