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

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.

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Chromosome 16 Rearrangements in Acute Myelomonocytic Leukemia with Abnormal Eosinophils

New England Journal of Medicine ◽

10.1056/nejm198402163100720 ◽

1984 ◽

Vol 310 (7) ◽

pp. 468-469 ◽

Cited By ~ 28

Keyword(s):

Chromosome 16 ◽

Acute Myelomonocytic Leukemia ◽

Myelomonocytic Leukemia

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Karyotypic evolution in acute myelomonocytic leukemia with pericentric inversion of chromosome 16

Cancer Genetics and Cytogenetics ◽

10.1016/0165-4608(87)90107-5 ◽

1987 ◽

Vol 24 (2) ◽

pp. 257-262 ◽

Cited By ~ 2

Author(s):

Masafumi Taniwaki ◽

Johji Inazawa ◽

Shigeo Horiike ◽

Shinichi Misawa ◽

Tatsuo Abe ◽

...

Keyword(s):

Pericentric Inversion ◽

Karyotypic Evolution ◽

Chromosome 16 ◽

Acute Myelomonocytic Leukemia ◽

Myelomonocytic Leukemia

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Association of an Inversion of Chromosome 16 with Abnormal Marrow Eosinophils in Acute Myelomonocytic Leukemia

New England Journal of Medicine ◽

10.1056/nejm198309153091103 ◽

1983 ◽

Vol 309 (11) ◽

pp. 630-636 ◽

Cited By ~ 345

Author(s):

Michelle M. Le Beau ◽

Richard A. Larson ◽

Mitchell A. Bitter ◽

James W. Vardiman ◽

Harvey M. Golomb ◽

...

Keyword(s):

Chromosome 16 ◽

Acute Myelomonocytic Leukemia ◽

Myelomonocytic Leukemia

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Acute Myelomonocytic Leukemia (M-4 Subtype) with Abnormal Marrow Eosinophilia and a Normal Chromosome 16

American Journal of Clinical Pathology ◽

10.1093/ajcp/84.4.551 ◽

1985 ◽

Vol 84 (4) ◽

pp. 551-554 ◽

Cited By ~ 3

Author(s):

Eric W. Stark ◽

David F. Garvin ◽

R. B. Surana ◽

Norman L. Dale ◽

William Hummer ◽

...

Keyword(s):

Normal Chromosome ◽

Chromosome 16 ◽

Acute Myelomonocytic Leukemia ◽

Myelomonocytic Leukemia

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Abnormalities of chromosome 16 in association with acute myelomonocytic leukemia and dysplastic bone marrow eosinophils.

Journal of Clinical Oncology ◽

10.1200/jco.1984.2.6.550 ◽

1984 ◽

Vol 2 (6) ◽

pp. 550-557 ◽

Cited By ~ 45

Author(s):

D E Hogge ◽

S Misawa ◽

N Z Parsa ◽

A Pollak ◽

J R Testa

Keyword(s):

Bone Marrow ◽

Pericentric Inversion ◽

Bone Marrow Cells ◽

Absolute Number ◽

Chromosome 16 ◽

Abnormal Bone Marrow ◽

Acute Myelomonocytic Leukemia ◽

Prognostic Importance ◽

Myelomonocytic Leukemia ◽

Marrow Cells

Six patients with M4 acute myelomonocytic leukemia ( AMMoL ) were identified who had abnormalities of chromosome 16 in bone marrow cells. Five had a pericentric inversion, inv(16)( p13q22 ), and a sixth patient had a translocation, t(16;16)(p13.1;q22). Each of these six patients had bone marrow eosinophils that were abnormal in morphology on light and/or electron microscopy and by cytochemical stains. The eosinophils constituted 1%-24% of nucleated marrow cells. Of 61 acute nonlymphocytic leukemia (ANLL) patients, all those with AMMoL and abnormal bone marrow eosinophils had an inv(16) or a t(16;16). One other patient in this group had a rearrangement of chromosome 16 (with a break in the short arm at band p13); however, the ANLL type was M1 and no abnormal eosinophils were present. Four patients with ANLL types other than M4 had an increase in marrow eosinophils; three in whom the eosinophils appeared normal and one with ANLL-M2 and bizarre eosinophils morphologically distinct from those seen in AMMoL . Chromosome pair 16 was normal in the latter four patients. AMMoL with dysplastic bone marrow eosinophils appears to represent a unique clinicopathologic entity associated with several related abnormalities affecting 16q . The morphologic features of both blasts and eosinophils may be more important than the absolute number of eosinophils in the marrow in identifying this group of patients. This may have prognostic importance as five of six patients achieved complete remission with standard antileukemic therapy and are still alive.

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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.

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Inversion of chromosome 16 with the Philadelphia chromosome in acute myelomonocytic leukemia with eosinophilia

Cancer Genetics and Cytogenetics ◽

10.1016/0165-4608(92)90129-v ◽

1992 ◽

Vol 58 (1) ◽

pp. 29-34 ◽

Cited By ~ 28

Author(s):

Lorna M. Secker-Walker ◽

Gareth J. Morgan ◽

Toon Min ◽

G. John Swansbury ◽

Jeff Craig ◽

...

Keyword(s):

Philadelphia Chromosome ◽

Chromosome 16 ◽

Acute Myelomonocytic Leukemia ◽

Myelomonocytic Leukemia

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Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia

Blood ◽

10.1182/blood.v82.3.716.bloodjournal823716 ◽

1993 ◽

Vol 82 (3) ◽

pp. 716-721 ◽

Cited By ~ 1

Author(s):

P Liu ◽

DF Claxton ◽

P Marlton ◽

A Hajra ◽

J Siciliano ◽

...

Keyword(s):

Fish Analysis ◽

Chromosome 16 ◽

Artificial Chromosomes ◽

Cosmid Contig ◽

Pcr Products ◽

Acute Myelomonocytic Leukemia ◽

Polymerase Chain ◽

Yeast Artificial Chromosomes ◽

Myelomonocytic Leukemia

We report the cloning of the chromosome 16 p-arm breakpoint involved in inversion 16(p13;q22) associated with subtype of acute myelomonocytic leukemia (AMML) M4Eo. Inter-Alu polymerase chain reaction (PCR) products from a series of interspecific somatic cell hybrids that contain only small portions of the human chromosome 16 p-arm were generated for use as fluorescent in-situ hybridization (FISH) probes. When applied to patient cells, rapid and unambiguous identification of the inversion resulted. Using FISH analysis, cosmid clones associated with the hybrids were identified that bracketed the p-arm breakpoint. A repeat-free fragment of one of these cosmids (35B11) when used as probe on Southern blots from pulsed-field gels identified rearranged macrorestriction fragments in patient DNA. Yeast artificial chromosomes (YACs) were isolated using sequences derived from cosmids flanking 35B11 in a cosmid contig. Of 4 YACs so identified, 3 were shown by FISH to cross the inversion-16 p-arm breakpoint. Therefore, the breakpoint has been molecularly cloned, and identified as being within these 3 YACs. These clones will facilitate the unraveling of the genetic events associated with inversion-16 and are available tools with immediate clinical application.

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