难治性全血细胞减少伴多系发育异常中5号染色体短臂等臂染色体的两份拷贝：一例报告

Two copies of isochromosome 5p in refractory cytopenia with multilineage dysplasia: A case report.

作者信息

Giudici Carolina, Lingeri Riccardo, Patriarca Carlo, Cavallero Alessandra, Partenope Michele, Casasanta Floredana, Epifani Raffaella, Giordano Monica

机构信息

Genetics Unit, St. Anna Hospital, Via Ravona 1, 22020 San Fermo della Battaglia-Como, Italy.

Surgical Pathology Unit, St. Anna Hospital, Como, Italy.

出版信息

Leuk Res Rep. 2013 Feb 9;2(1):15-7. doi: 10.1016/j.lrr.2012.11.005. eCollection 2013.

DOI:10.1016/j.lrr.2012.11.005

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3850404/

Abstract

Isochromosome 5p-i(5)(p10)-represents a rare but recurrent abnormality in myeloid disorders, especially in acute myeloid leukemia. In all published cases, the isochromosome 5p was present in single copy and accompanied by one or more additional anomalies, mostly trisomy 8. Here we report a case of refractory cytopenia with multilineage dysplasia with two copies of isochromosome 5p, a single normal chromosome 5and an apparently balanced translocation between long arms of chromosome 7and 10. To our knowledge, the pentasomia 5p has never been described before the presentstudy.

摘要

等臂染色体5p - i(5)(p10)——是髓系疾病中一种罕见但反复出现的异常情况，尤其在急性髓系白血病中。在所有已发表的病例中，等臂染色体5p以单拷贝形式存在，并伴有一个或多个其他异常，大多为8号染色体三体。在此，我们报告一例多系发育异常的难治性血细胞减少症病例，该病例存在两份等臂染色体5p、一条正常的5号染色体以及7号和10号染色体长臂之间明显平衡的易位。据我们所知，在本研究之前从未有过5p五体的描述。

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本文引用的文献

1

Myelodysplastic syndrome with isochromosome 5p and trisomy 8 after treatment of a multiple myeloma.

Cancer Genet Cytogenet. 2010 Dec;203(2):345-7. doi: 10.1016/j.cancergencyto.2010.09.010.

2

Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders.等臂染色体5p及相关异常：髓系疾病中一种新的复发性染色体异常。

Cancer Genet Cytogenet. 2010 Jul 15;200(2):134-9. doi: 10.1016/j.cancergencyto.2010.04.006.

3

Hemochromatosis gene mutation--could it be a disease marker for myelodysplasia?血色素沉着症基因突变——它可能是骨髓增生异常综合征的疾病标志物吗？

Leuk Res. 2009 Jan;33(1):201-2. doi: 10.1016/j.leukres.2008.03.030. Epub 2008 May 6.

4

Gain of an isochromosome 5p: a rare recurrent abnormality in acute myeloid leukemia.5号染色体等臂染色体的获得：急性髓系白血病中一种罕见的复发性异常。

In Vivo. 2006 May-Jun;20(3):359-60.

5

High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients.骨髓增生异常综合征中铁代谢紊乱基因（HFE）突变的高发生率：布达佩斯对50例患者的研究

Acta Haematol. 2003;109(2):64-7. doi: 10.1159/000068487.

6

Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia.5号染色体短臂等臂染色体的获得：急性单核细胞白血病中一种新的复发性染色体异常。

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