Acute myeloid leukemia presenting in a mother and daughter pair with the identical acquired karyotypic abnormality consisting of inversion 3q21q26 and monosomy 7: a review of possible mechanisms

Alastair Lawrie, David A J Stevenson, Tamsin Doig, Mark Vickers, Dominic J. Culligan

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6 Citations (Scopus)

Abstract

The 3q21q26 inversion is associated with both myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), often in association with monosomy 7. In this report, we present a young woman and her mother, both diagnosed with AML, exhibiting similar morphological and identical cytogenetic features. AML with abnormalities of chromosome 3q is often characterized by abnormal megakaryopoeisis and diabetes insipidus, and both were seen in these cases. To our knowledge, this is the first report of familial aggregation of AML displaying an inversion of chromosome 3q and monosomy 7. We discuss possible mechanisms for the development of familial AML with identical karyotypic abnormalities and the link between 3q aberrations and monosomy 7.
Original languageEnglish
Pages (from-to)599-602
Number of pages4
JournalCancer Genetics and Cytogenetics
Volume205
Issue number11
Early online date12 Oct 2012
DOIs
Publication statusPublished - Nov 2012

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Nuclear Family
Acute Myeloid Leukemia
Mothers
Diabetes Insipidus
Myelodysplastic Syndromes
Cytogenetics
Chromosome Aberrations
Monosomy Chromosome 7
Familial Acute Myeloid Leukemia with Mutated Cebpa

Cite this

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title = "Acute myeloid leukemia presenting in a mother and daughter pair with the identical acquired karyotypic abnormality consisting of inversion 3q21q26 and monosomy 7: a review of possible mechanisms",
abstract = "The 3q21q26 inversion is associated with both myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), often in association with monosomy 7. In this report, we present a young woman and her mother, both diagnosed with AML, exhibiting similar morphological and identical cytogenetic features. AML with abnormalities of chromosome 3q is often characterized by abnormal megakaryopoeisis and diabetes insipidus, and both were seen in these cases. To our knowledge, this is the first report of familial aggregation of AML displaying an inversion of chromosome 3q and monosomy 7. We discuss possible mechanisms for the development of familial AML with identical karyotypic abnormalities and the link between 3q aberrations and monosomy 7.",
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TY - JOUR

T1 - Acute myeloid leukemia presenting in a mother and daughter pair with the identical acquired karyotypic abnormality consisting of inversion 3q21q26 and monosomy 7

T2 - a review of possible mechanisms

AU - Lawrie, Alastair

AU - Stevenson, David A J

AU - Doig, Tamsin

AU - Vickers, Mark

AU - Culligan, Dominic J.

PY - 2012/11

Y1 - 2012/11

N2 - The 3q21q26 inversion is associated with both myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), often in association with monosomy 7. In this report, we present a young woman and her mother, both diagnosed with AML, exhibiting similar morphological and identical cytogenetic features. AML with abnormalities of chromosome 3q is often characterized by abnormal megakaryopoeisis and diabetes insipidus, and both were seen in these cases. To our knowledge, this is the first report of familial aggregation of AML displaying an inversion of chromosome 3q and monosomy 7. We discuss possible mechanisms for the development of familial AML with identical karyotypic abnormalities and the link between 3q aberrations and monosomy 7.

AB - The 3q21q26 inversion is associated with both myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), often in association with monosomy 7. In this report, we present a young woman and her mother, both diagnosed with AML, exhibiting similar morphological and identical cytogenetic features. AML with abnormalities of chromosome 3q is often characterized by abnormal megakaryopoeisis and diabetes insipidus, and both were seen in these cases. To our knowledge, this is the first report of familial aggregation of AML displaying an inversion of chromosome 3q and monosomy 7. We discuss possible mechanisms for the development of familial AML with identical karyotypic abnormalities and the link between 3q aberrations and monosomy 7.

U2 - 10.1016/j.cancergen.2012.09.001

DO - 10.1016/j.cancergen.2012.09.001

M3 - Article

VL - 205

SP - 599

EP - 602

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

SN - 0165-4608

IS - 11

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