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TP53 缺失多发性骨髓瘤患者细胞遗传学异质性的临床意义。

Clinical implications of cytogenetic heterogeneity in multiple myeloma patients with TP53 deletion.

机构信息

Department of Pathology and Genomic Medicine, Houston, Methodist Hospital, Houston, TX, USA.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

出版信息

Mod Pathol. 2017 Oct;30(10):1378-1386. doi: 10.1038/modpathol.2017.63. Epub 2017 Jun 30.

DOI:10.1038/modpathol.2017.63
PMID:28664940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5628266/
Abstract

TP53 deletion (ΔTP53) in myeloma is known to be a high-risk finding associated with poorer prognosis. The prognostic impact of underlying cytogenetic heterogeneity in patients with myeloma associated with ΔTP53 is unknown. We studied 90 patients with myeloma associated with ΔTP53 identified by interphase fluorescence in situ hybridization and assessed the impact of karyotype and coexisting alterations of IGH, RB1, and CKS1B. There were 54 men and 36 women with a median age of 59 years (range 38-84); 14 patients had a normal karyotype (NK/ΔTP53), 73 had a complex karyotype (CK/ΔTP53), and 3 had a non-complex abnormal karyotype. Patients with CK/ΔTP53 showed a significantly poorer overall survival compared with patients with NK/ΔTP53 (P=0.0243). Furthermore, in the CK/ΔTP53 group, patients with IGH rearrangement other than t(11;14)(q13;q32)/CCND1-IGH, designated as adverse-IGH, had an even worse outcome (P=0.0045). In contrast, RB1 deletion, CKS1B gain, ploidy, additional chromosome 17 abnormalities, or ΔTP53 clone size did not impact prognosis. Stem cell transplant did not improve overall survival in either the NK/ΔTP53 or CK/ΔTP53 (P=0.8810 and P=0.1006) groups, but tandem stem cell transplant did improve the overall survival of patients with CK/ΔTP53 (P=0.0067). Multivariate analysis confirmed in this cohort that complex karyotype (hazard ratio 1.976, 95% CI 1.022-3.821, P=0.043), adverse-IGH (hazard ratio 3.126, 95% CI 1.192-8.196, P=0.020), and tandem stem cell transplant independently correlate with overall survival (hazard ratio 0.281, 95% CI 0.091-0.866, P=0.027). We conclude that comprehensive genetic assessment adds to TP53 status in the risk stratification of myeloma patients.

摘要

骨髓瘤中 TP53 缺失(ΔTP53)是一种与预后较差相关的高危发现。伴有 ΔTP53 的骨髓瘤患者中潜在细胞遗传学异质性的预后影响尚不清楚。我们研究了 90 例通过间期荧光原位杂交鉴定的伴有 ΔTP53 的骨髓瘤患者,并评估了核型和共存 IGH、RB1 和 CKS1B 改变的影响。患者中有 54 名男性和 36 名女性,中位年龄为 59 岁(范围为 38-84 岁);14 例患者核型正常(NK/ΔTP53),73 例患者核型复杂(CK/ΔTP53),3 例患者非复杂异常核型。与 NK/ΔTP53 患者相比,CK/ΔTP53 患者的总生存明显较差(P=0.0243)。此外,在 CK/ΔTP53 组中,IGH 重排除 t(11;14)(q13;q32)/CCND1-IGH 以外的患者,指定为不良 IGH,其预后更差(P=0.0045)。相比之下,RB1 缺失、CKS1B 增益、倍性、额外的 17 号染色体异常或 ΔTP53 克隆大小并不影响预后。NK/ΔTP53 或 CK/ΔTP53 组的干细胞移植均未改善总生存率(P=0.8810 和 P=0.1006),但串联干细胞移植可改善 CK/ΔTP53 患者的总生存率(P=0.0067)。多变量分析在该队列中证实,复杂核型(危险比 1.976,95%CI 1.022-3.821,P=0.043)、不良 IGH(危险比 3.126,95%CI 1.192-8.196,P=0.020)和串联干细胞移植独立与总生存率相关(危险比 0.281,95%CI 0.091-0.866,P=0.027)。我们得出结论,综合遗传评估可补充骨髓瘤患者 TP53 状态的风险分层。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/c1fa3f45c18e/modpathol201763f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/dde4924c799a/modpathol201763f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/a656f5cf1392/modpathol201763f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/70476c638351/modpathol201763f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/c1fa3f45c18e/modpathol201763f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/dde4924c799a/modpathol201763f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/a656f5cf1392/modpathol201763f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/70476c638351/modpathol201763f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a36b/5628266/c1fa3f45c18e/modpathol201763f4.jpg

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