Cytogenetic analysis in essential thrombocythemia at diagnosis and at transformation

Sessarego, Mario; Defferrari, Raffaella; Dejana, Anna; Rebuttato, Anna Maria; Fugazza, Giuseppina; Salvidio, E; Ajmar, Franco

doi:10.1016/0165-4608(89)90127-1

Cited by 69 publications

(48 citation statements)

References 24 publications

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“…In three of these patients (3, 5, 18) the second abnormality was a 5 q -anomaly. In six patients (7,8,9,15,19,21) the 20q-occurred together with two or more other chromosome abnormalities. One patient (23) had two clones with different karyotypes; 20q-was the sole anomaly in one clone, and trisomy 8 was the sole anomaly in the other clone.…”

Section: Resultsmentioning

confidence: 99%

Hematologic Disorders Associated With Deletions of Chromosome 20q:A Clinicopathologic Study of 107 Patients

et al. 1996

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Section: Resultsmentioning

confidence: 99%

Hematologic Disorders Associated With Deletions of Chromosome 20q:A Clinicopathologic Study of 107 Patients

et al. 1996

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“…[5][6][7][8]16,17 To the best of our knowledge, this is the first cytogenetic study dealing with MDS/AML in ET patients previously treated with PI. Until now such an evolution has been described mostly in patients who had been given 32 P or alkylating agents, especially busulfan.…”

Section: Discussionmentioning

confidence: 99%

Acute myeloid leukemia (AML) having evolved from essential thrombocythemia (ET): distinctive chromosome abnormalities in patients treated with pipobroman or hydroxyurea

et al. 2002

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ET is a chronic myeloproliferative disorder rarely evolving into AML, sometimes preceded by a myelodysplastic syndrome (MDS). Such transformations mostly occur in patients treated with radiophosphorous ( 32 P) or alkylating agents, especially busulfan. Recently, concern has also arisen about the longterm safety of hydroxyurea (HU). Pipobroman (PI), a well tolerated and simple to use drug, constitutes a valid alternative to those cytoreductive treatments. The present study reports on 155 ET patients treated at our institution from 1985 to 1995, and monitored until December 2000. A good control of thrombocytosis was achieved with PI as the only treatment in 106 patients and with HU in 23 patients. Twenty-six patients received no treatment. After a median follow-up of 104 months, seven patients (four treated with HU, and three with PI) developed AML whereas one patient treated with PI developed MDS. A significant difference in progression-free survival was observed between HU-and PI-treated patients (P = 0.004). A short-arm deletion of chromosome 17 was most frequently detected in HU-treated patients, while a long-arm trisomy of chromosome 1 and a monosomy 7q were seen in PI-treated patients. No TP53 mutation was discovered in the six patients studied (two HU-treated and four PI-treated). We conclude that these cytogenetic abnormalities are not linked to the natural history of the disease, but rather that they might be induced by the cytoreductive treatment.

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“…[37][38][39] No consistent abnormality characterizes the disease, as many of the common clonal changes, including trisomies 8 and 9 and deletions in 13q and 20q, are also observed in PV and PMF. 29,40 Interphase FISH studies have been used in an attempt to clarify the frequency of such abnormalities in ET.…”

Section: Essential Thrombocythaemiamentioning

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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Cytogenetic analysis in essential thrombocythemia at diagnosis and at transformation

Cited by 69 publications

References 24 publications

Hematologic Disorders Associated With Deletions of Chromosome 20q:A Clinicopathologic Study of 107 Patients

Hematologic Disorders Associated With Deletions of Chromosome 20q:A Clinicopathologic Study of 107 Patients

Acute myeloid leukemia (AML) having evolved from essential thrombocythemia (ET): distinctive chromosome abnormalities in patients treated with pipobroman or hydroxyurea

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

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