Cattedra ed U.O. di Ematologia, Policlinico Universitario di Palermo, Palermo, Italy.
Eur J Haematol. 2010 Mar;84(3):191-200. doi: 10.1111/j.1600-0609.2009.01392.x. Epub 2009 Nov 30.
Chromosome 1 is the largest human chromosome and contains over 1600 known genes and 1000 novel coding sequences or transcripts. It is, therefore, not surprising that recurrent chromosome 1 abnormalities are regularly encountered in both neoplastic and non-neoplastic medical conditions. The current review is focused on myeloid malignancies where we summarize the relevant published literature and discuss specific karyotype-phenotype associations. We show that chromosome 1 abnormalities are most frequent in BCR-ABL-negative classic myeloproliferative neoplasms (MPN): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Specific abnormalities include duplications (e.g. 1q12-->1q32 in PV, 1q21-32-->1q32-44 in post-PV MF or PMF), deletions (e.g. 1p13-36-->pter in PV or PMF, 1q21 in PMF) and unbalanced translocations involving chromosome 6, such as der(6)t(1;6)(q21-25;p21.3-23), and other partner chromosomes involving 1q10/1p11 and 1q21-25 breakpoints. Although occasionally seen in chronic phase MPN, unbalanced 1;7 translocations, e.g. der(1;7)(q10;p10), are usually seen in acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and post-MPN AML/MDS. These observations suggest that certain chromosome 1 regions, especially 1q21-1q32 and 1p11-13, might harbor oncogenes or tumor suppressor genes that are pathogenetically relevant to both chronic and advanced phases of MPN.
1 号染色体是人类最大的染色体，包含超过 1600 个已知基因和 1000 个新的编码序列或转录本。因此，在肿瘤和非肿瘤性医疗条件下经常遇到反复出现的 1 号染色体异常也就不足为奇了。本综述重点关注髓系恶性肿瘤，我们总结了相关的已发表文献，并讨论了特定的核型-表型相关性。我们表明，1 号染色体异常在 BCR-ABL 阴性经典骨髓增殖性肿瘤（MPN）中最为常见：真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）。具体异常包括重复（例如，PV 中的 1q12-->1q32，post-PV MF 或 PMF 中的 1q21-32-->1q32-44）、缺失（例如，PV 或 PMF 中的 1p13-36-->pter，PMF 中的 1q21）和涉及 6 号染色体的不平衡易位，如 der(6)t(1;6)(q21-25;p21.3-23)，以及涉及 1q10/1p11 和 1q21-25 断点的其他伙伴染色体。虽然在慢性期 MPN 中偶尔可见，不平衡的 1;7 易位，例如 der(1;7)(q10;p10)，通常见于急性髓系白血病（AML）、骨髓增生异常综合征（MDS）和 MPN 后 AML/MDS。这些观察结果表明，某些 1 号染色体区域，特别是 1q21-1q32 和 1p11-13，可能含有与 MPN 的慢性和晚期阶段都相关的癌基因或肿瘤抑制基因。
