Deletion of the long arm of chromosome 20 [del(20)(q11)] in myeloid disorders

Detailed clinical and cytogenetic studies were performed in five patients who had abnormal hematopoiesis and an acquired deletion of an F-group chromosome. Cytogenetic analyses, with banding techniques, of cells from bone marrow, spleen, or unstimulated peripheral blood showed a partial deletion of the long arm of one chromosome 20 [del(20)(q11)] in all five patients. Three patients had myeloproliferative disorders of uncertain classification, the fourth had possible preleukemia, and the fifth had acute myelomonocytic leukemia. Although the five cases showed certain similarities, the clinical and hematologic findings seen with the 20q- abnormality were not specific. None of the patients showed evidence of polycythemia vera or idiopathic acquired refractory sideroblastic anemia, two diseases previously associated with the 20q-. Our studies indicate that the 20q- abnormality is not limited to diseases primarily affecting erythropoiesis but that it can be found in the broader spectrum of myeloid disorders. In polycythemia vera, the 20q- has sometimes been regarded as a possible result of previous therapy with cytotoxic agents; however, four of our patients were untreated when the deletion was first noted.

Download Full-text

Deletion of the long arm of chromosome 20 [del(20)(q11)] in myeloid disorders

Blood ◽

10.1182/blood.v52.5.868.868 ◽

1978 ◽

Vol 52 (5) ◽

pp. 868-877 ◽

Cited By ~ 34

Author(s):

JR Testa ◽

A Kinnealey ◽

JD Rowley ◽

DW Golde ◽

D Potter

Keyword(s):

Polycythemia Vera ◽

Myeloproliferative Disorders ◽

Cytotoxic Agents ◽

Partial Deletion ◽

Previous Therapy ◽

Chromosome 20 ◽

Acute Myelomonocytic Leukemia ◽

Cytogenetic Analyses ◽

Myelomonocytic Leukemia ◽

Group Chromosome

Abstract Detailed clinical and cytogenetic studies were performed in five patients who had abnormal hematopoiesis and an acquired deletion of an F-group chromosome. Cytogenetic analyses, with banding techniques, of cells from bone marrow, spleen, or unstimulated peripheral blood showed a partial deletion of the long arm of one chromosome 20 [del(20)(q11)] in all five patients. Three patients had myeloproliferative disorders of uncertain classification, the fourth had possible preleukemia, and the fifth had acute myelomonocytic leukemia. Although the five cases showed certain similarities, the clinical and hematologic findings seen with the 20q- abnormality were not specific. None of the patients showed evidence of polycythemia vera or idiopathic acquired refractory sideroblastic anemia, two diseases previously associated with the 20q-. Our studies indicate that the 20q- abnormality is not limited to diseases primarily affecting erythropoiesis but that it can be found in the broader spectrum of myeloid disorders. In polycythemia vera, the 20q- has sometimes been regarded as a possible result of previous therapy with cytotoxic agents; however, four of our patients were untreated when the deletion was first noted.

Download Full-text

Current Management of the Myeloproliferative Disorders: A Case-Based Review

Archives of Pathology & Laboratory Medicine ◽

10.5858/2006-130-1151-cmotmd ◽

2006 ◽

Vol 130 (8) ◽

pp. 1151-1156

Author(s):

Lawrence Rice ◽

Kelty R. Baker

Keyword(s):

Bone Marrow ◽

Bone Marrow Transplantation ◽

Polycythemia Vera ◽

Marrow Transplantation ◽

Alkylating Agents ◽

Treatment Strategies ◽

Antiplatelet Agents ◽

Myeloproliferative Disorders ◽

Cytotoxic Agents ◽

Actual Case

Abstract Context.—Properly managed, the myeloproliferative disorders are generally compatible with prolonged survival. Challenges to the hematologist include knowing when and how best to intervene to prevent and manage complications. The cytoreductive agent of choice for these disorders is currently hydroxyurea, emerging from randomized trials beginning with those of the Polycythemia Vera Study Group. Objective.—To examine the roles and shortcomings of interventions (including hydroxyurea, antiplatelet agents, anagrelide, interferon, thalidomide, alkylating agents, cell cytopheresis, erythropoietins, splenectomy, bone marrow transplantation, and imatinib) for myeloproliferative disorders. Data Sources.—This report uses actual case histories to illustrate the roles and shortcomings of these interventions. Conclusions.—Beyond phlebotomy for polycythemia vera, patients with polycythemia vera and essential thrombocythemia can be stratified by their risk for thrombosis, which guides the institution of cytoreductive therapies. High-risk patients generally benefit from cytoreductive therapy, and hydroxyurea has emerged as the agent of choice, because alkylating agents (and P32) have high leukemogenic potentials. Anagrelide and interferon are second-line agents. The addition of low-dose aspirin is beneficial for most, helping to prevent arterial thrombotic complications. Therapy in any of these disorders should be tailored to the unique characteristics of the individual patient. With myelofibrosis, therapeutic options run the gamut from observation, erythropoietic stimulators, cytotoxic agents, splenectomy, and bone marrow transplantation. Thalidomide and imatinib have shown some utility. Future challenges are the refinement of individualized treatment strategies and the development of targeted therapies based on rapidly expanding understanding of the molecular perturbations in these disorders.

Download Full-text

Partial deletion of chromosome 16 in a case of acute myelomonocytic leukemia without arrow hypereosinophilia

Cancer Genetics and Cytogenetics ◽

10.1016/0165-4608(85)90157-8 ◽

1985 ◽

Vol 18 (4) ◽

pp. 351 ◽

Cited By ~ 1

Author(s):

Christiane Werner-Favre ◽

Eric Engel ◽

Photis Beris

Keyword(s):

Chromosome 16 ◽

Partial Deletion ◽

Acute Myelomonocytic Leukemia ◽

Myelomonocytic Leukemia

Download Full-text

Comparison of Chromosome Constitution in Chronic Myelocytic Leukemia and Other Myeloproliferative Disorders

Blood ◽

10.1182/blood.v20.4.393.393 ◽

1962 ◽

Vol 20 (4) ◽

pp. 393-423 ◽

Cited By ~ 96

Author(s):

AVERY A. SANDBERG ◽

TAKAAKI ISHIHARA ◽

LOIS H. CROSSWHITE ◽

THEODORE S. HAUSCHKA

Keyword(s):

Polycythemia Vera ◽

Blood Cells ◽

Chromosome Abnormality ◽

Myeloproliferative Disorders ◽

Chronic Myelocytic Leukemia ◽

Myeloid Metaplasia ◽

Myelocytic Leukemia ◽

Karyotypic Abnormality ◽

Blastic Phase ◽

Group Chromosome

Abstract The frequency of the Ph1 chromosome in freshly aspirated marrow cells of 14 patients with typical chronic myelocytic leukemia processed by a "direct technic" without resort to culture or colchicine was significantly higher (> 75 per cent) than that observed in the cultured blood cells (< 35 per cent) of the same subjects. The karyotypic abnormally of the abbreviated G-group chromosome would appear not to be related to therapy, since the frequency with which it occurred was not materially affected by treatment (including radiation). The Ph1 chromosome was not observed in any of the metaphases of blood or marrow of 12 subjects who had developed a leukemia-like picture complicating either myelofibrosis, polycythemia vera or myeloid metaplasia. A new chromosome abnormality—a shortened D-group chromosome—was observed with about the same frequency in the blood and marrow metaphases of a female patient with treated chronic myelocytic leukemia. This new karyotypic abnormality was associated with the highest frequency of the Ph1 chromosome in cultured blood cells in the group studied. The Ph1 chromosome was observed in the metaphases of a patient with the blastic phase of chronic myelocytic leukemia. The variations of the morphology of the Ph1 chromosome are discussed and illustrated, especially in relation to the Y-chromosome. In four patients with an atypical picture of CML, the Ph1 chromosome was not observed either in the marrow or cultured blood.

Download Full-text

Simultaneous genotypic and immunophenotypic analysis of interphase cells using dual-color fluorescence: a demonstration of lineage involvement in polycythemia vera

Blood ◽

10.1182/blood.v80.4.1033.1033 ◽

1992 ◽

Vol 80 (4) ◽

pp. 1033-1038 ◽

Cited By ~ 53

Author(s):

CM Price ◽

EJ Kanfer ◽

SM Colman ◽

N Westwood ◽

AJ Barrett ◽

...

Keyword(s):

Polycythemia Vera ◽

Fluorescent In Situ Hybridization ◽

Chromosomal Abnormalities ◽

Myeloproliferative Disorders ◽

Chromosome 8 ◽

Dual Fluorescence ◽

Interphase Cell ◽

Molecular Alterations ◽

Interphase Cells

Abstract Fluorescent in situ hybridization has become a useful technique by which chromosomal abnormalities may be shown in interphase cells. We present a dual-fluorescence method whereby a chromosomal and immunophenotypic marker can be visualized simultaneously in the same interphase cell. Two patients with the myeloproliferative disorder polycythemia vera and trisomy for chromosome 8 have been studied using this technique and selective involvement of the myeloid and erythrocyte lineages has been shown by the detection of the trisomy in immunophenotyped cells. Simultaneous analysis of genotype and immunophenotype in individual cells from patients with myeloproliferative disorders or leukemia may help identify the developmental and lineage status of cells in which molecular alterations have resulted in clonal advantage.

Download Full-text