Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases

Reilly, John T.; Snowden, John A.; Spearing, Ruth; Ph, Fitzgerald; Jones, Natalie; Watmore, A. E.; Potter, A. M.

doi:10.1046/j.1365-2141.1997.1722990.x

Cited by 190 publications

(195 citation statements)

References 28 publications

(73 reference statements)

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“…These include simple deletions (13q -and 20q -), trisomy 8 or 9 and abnormalities on chromosome 1, 7 and 20 (41)(42)(43)(44). Some of these abnormalities are relatively specific for MMM (1q -and 13q -) while others such as 5q -are rare and therefore help in the diagnostic process (40).…”

Section: Differential Diagnosismentioning

confidence: 99%

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Myelofibrosis with Myeloid Metaplasia: New Developments in Pathogenesis and Treatment

2004

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Myeloid metaplasia with myelofibrosis (MMM) is a chronic myeloproliferative disorder (CMPD) characterized by progressive anemia, massive splenomegaly, both hepatosplenic and non-hepatosplenic extramedullary hematopoiesis (EMH), a leukoerythroblastic blood smear, circulating progenitor cells, and marked bone marrow stromal reaction including collagen fibrosis, osteosclerosis and angiogenesis. The overall median survival is 5 years although it might range from 2 to 15 years depending on the presence or absence of clinically defined prognostic factors. Death is often due to leukemic transformation, portal hypertension or infection. In addition to shortened survival, quality of life is often affected by frequent red blood cell transfusions, profound constitutional symptoms, and cachexia. Drug therapy and autologous hematopoietic stem cell transplantation (HSCT) are of only palliative value and have not been shown to improve survival. The role of allogeneic HSCT, both myeloablative and non-myeloablative, is actively being investigated. Both splenectomy and radiation therapy have defined therapeutic roles to control EMH-associated symptoms. Analysis of the molecular biology of the disease is underway with the aid of animal models leading to the identification of novel therapeutic targets. Among the novel agents tested, thalidomide seems the most promising although newer agents are on the horizon.

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Section: Differential Diagnosismentioning

confidence: 99%

“…The combination of danazol (600-800 mg/day) and erythropoietin (EPO, 40,000 units/week subcutaneous injections) is also effective in controlling anemia in a Internal Medicine Vol. 43 subgroup of patients with MMM (52,53). Sometimes EPO by itself may be able to improve the anemia in these patients (54).…”

Section: Treatment For Anemiamentioning

confidence: 99%

Myelofibrosis with Myeloid Metaplasia: New Developments in Pathogenesis and Treatment

2004

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“…A variant of deletion 20q, an isochromosome of the long arm of chromosome 20 with loss of interstitial material (ider(20q)), has recently been described in myeloid hemopathy [2][3][4][5][6]. To our knowledge, a sole case of primary myelofibrosis with ider(20q) has been published [7]. Here, we report two further cases.…”

Section: Letter To the Editormentioning

confidence: 83%

Isoderivative of deleted chromosome 20 in primary myelofibrosis (PMF) characterized by molecular cytogenetics and array CGH

Douet‐Guilbert¹,

Andrieux²,

Laı̈³

et al. 2009

Ann Hematol

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“…Importantly, the new stratification system identifies four risk groups, with superior predictive accuracy, replicability, and discriminating power than previous scoring systems. These different groups are defined by the presence of 0 (low risk), 1 (intermediate risk-1), 2 (intermediate risk-2), or 3 (high risk) prognostic variables, with median survivals of 135, 95, 48, and 27 months, respectively.A number of studies suggest that an abnormal karyotype per se carries a poor prognosis for PMF patients and a greater risk of acute transformation [2,5]. This view, however, has been modified by recent reports from the Mayo Clinic and subsequently the MD Anderson Cancer Center [6,7], which indicate that not all cytogenetic abnormalities carry equal prognostic weight.…”

mentioning

confidence: 99%

“…A number of studies suggest that an abnormal karyotype per se carries a poor prognosis for PMF patients and a greater risk of acute transformation [2,5]. This view, however, has been modified by recent reports from the Mayo Clinic and subsequently the MD Anderson Cancer Center [6,7], which indicate that not all cytogenetic abnormalities carry equal prognostic weight.…”

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confidence: 99%

Prognosis and survivorship in primary myelofibrosis

Reilly¹

2009

American J Hematol

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One of the most difficult decisions faced by clinicians treating myeloproliferative neoplasms (MPN), is whether or not a patient with primary myelofibrosis (PMF) should be offered an allogeneic stem cell transplant (allo-SCT). This is based on the knowledge that, although the overall median survival from the time of diagnosis is only 6 years, individual survival may vary from 1 to over 30 years, with some patients requiring little or no treatment.The therapeutic dilemma derives from the fact that standard therapies, including treatments for anemia, as well as chemotherapy and splenectomy, do not significantly affect the natural history of the disease. Furthermore, although the elucidation of the pathogenetic role of JAK2 mutations has opened up the exciting prospect of targeted therapy-currently, several JAK2 inhibitors are under evaluation and some have been shown to have significant biological activity-it is not clear if this approach will result in a survival benefit. In contrast, allo-SCT is potentially a curative procedure, although its wide-spread use is hampered by significant nonrelapse mortality and morbidity. As a result, reduced-intensity allo-SCT (RIC allo-SCT) is currently preferred for the older patient, although even this approach is not without considerable risk. Indeed, the most recent European Bone Marrow Transplant Registry (EBMTR) data, derived from 103 patients treated with a RIC allo-SCT, has shown a nonrelapse mortality of 16% at one year, with acute and chronic graft-verus-host complications of 27 and 43%, respectively [1]. Consequently, only patients with a poor outlook should be considered for bone marrow transplantation and the ''holy grail'' has been to devise a practical schema to enable such individuals to be identified accurately.A wide range of clinical and laboratory parameters have been reported by different groups to be predictive of an adverse prognosis, including advanced age, hepatomegaly, splenomegaly, constitutional symptoms, abnormal karyotype, anaemia, thrombocytopenia, low reticulocyte count, raised blood CD34 1 stem cell count, the presence of a monocytosis, or circulating blasts, and the detection of the JAK2 V617F mutation. Many of these observations, however, have not stood the test of time and only anaemia has been a universal finding. Based on a selection of the above variables, several prognostic scoring systems have been devised. The most widely used has been the ''Lille score,'' a simple schema based on just two parameters, hemoglobin <10 g/dl and leukocyte count <4 or >30 3 10 9 /l, that identifies low-, intermediate-and high-risk groups, with median survivals of 93, 26, and 13 months, respectively [2]. However, although a practical schema, it suffers from a number of limitations; firstly, the findings were based on a relatively small number of cases, indeed only 16 patients defined the high-risk group, secondly only a limited number of young patients were included in the study and lastly, the intermediate-and high-risk groups are not clearly separated. Cervan...

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Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases

Cited by 190 publications

References 28 publications

Myelofibrosis with Myeloid Metaplasia: New Developments in Pathogenesis and Treatment

Myelofibrosis with Myeloid Metaplasia: New Developments in Pathogenesis and Treatment

Isoderivative of deleted chromosome 20 in primary myelofibrosis (PMF) characterized by molecular cytogenetics and array CGH

Prognosis and survivorship in primary myelofibrosis

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