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两例局部神经母细胞瘤伴多个节段性染色体改变和转移进展。

Two cases of localized neuroblastoma with multiple segmental chromosomal alterations and metastatic progression.

机构信息

Department of Neuro-Oncology, Dana Farber Cancer Institute/Boston Children's Hospital, Boston, Massachusetts, USA.

出版信息

Pediatr Blood Cancer. 2013 Feb;60(2):332-5. doi: 10.1002/pbc.24311. Epub 2012 Sep 19.

DOI:10.1002/pbc.24311
PMID:22997192
Abstract

Surgery alone is curative for most children with localized MYCN-non-amplified neuroblastoma. However, 10-15% will develop recurrent loco-regional disease, and very rarely, patients will relapse metastatically. Currently, it is not possible to predict which child with localized, MYCN-non-amplified neuroblastoma will develop disseminated disease. We report two children who presented with favorable biology, localized neuroblastoma and subsequently relapsed with metastatic disease after treatment with surgery. Whole-genome DNA copy number analyses performed on the diagnostic tumors identified 15 (case 1) and 8 (case 2) segmental chromosomal alterations. Further analysis of the prognostic value of whole-genome analysis in children with localized neuroblastoma is warranted.

摘要

手术单独适用于大多数局限性 MYCN 非扩增神经母细胞瘤患儿。然而,仍有 10-15%的患儿会出现局部复发病灶,极少数患儿会出现远处转移复发。目前,尚无法预测局限性、MYCN 非扩增神经母细胞瘤患儿中哪些会出现播散性疾病。我们报告了两例具有良好生物学特征的局限性神经母细胞瘤患儿,他们在接受手术治疗后出现了转移性疾病复发。对诊断性肿瘤进行的全基因组 DNA 拷贝数分析分别确定了 15 个(病例 1)和 8 个(病例 2)片段性染色体改变。有必要进一步分析全基因组分析在局限性神经母细胞瘤患儿中的预后价值。

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Two cases of localized neuroblastoma with multiple segmental chromosomal alterations and metastatic progression.两例局部神经母细胞瘤伴多个节段性染色体改变和转移进展。
Pediatr Blood Cancer. 2013 Feb;60(2):332-5. doi: 10.1002/pbc.24311. Epub 2012 Sep 19.
2
Accumulation of segmental alterations determines progression in neuroblastoma.节段性改变的积累决定神经母细胞瘤的进展。
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Overall genomic pattern is a predictor of outcome in neuroblastoma.整体基因组模式是神经母细胞瘤预后的一个预测指标。
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Deletions in chromosome arms 3p and 11q are new prognostic markers in localized and 4s neuroblastoma.3号染色体短臂和11号染色体长臂的缺失是局限性和4s期神经母细胞瘤新的预后标志物。
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Segmental Chromosomal Aberrations in Localized Neuroblastoma Can be Detected in Formalin-Fixed Paraffin-Embedded Tissue Samples and Are Associated With Recurrence.局部神经母细胞瘤中的节段性染色体畸变可在福尔马林固定石蜡包埋组织样本中检测到,并与复发相关。
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Loss in chromosome 11q identifies tumors with increased risk for metastatic relapses in localized and 4S neuroblastoma.11号染色体q臂缺失可识别局部及4S期神经母细胞瘤发生转移性复发风险增加的肿瘤。
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引用本文的文献

1
Segmental Chromosomal Aberrations in Localized Neuroblastoma Can be Detected in Formalin-Fixed Paraffin-Embedded Tissue Samples and Are Associated With Recurrence.局部神经母细胞瘤中的节段性染色体畸变可在福尔马林固定石蜡包埋组织样本中检测到,并与复发相关。
Pediatr Blood Cancer. 2016 Jun;63(6):1019-23. doi: 10.1002/pbc.25934. Epub 2016 Feb 10.
2
Advances in the translational genomics of neuroblastoma: From improving risk stratification and revealing novel biology to identifying actionable genomic alterations.神经母细胞瘤转化基因组学的进展:从改善风险分层、揭示新生物学特性到识别可操作的基因组改变。
Cancer. 2016 Jan 1;122(1):20-33. doi: 10.1002/cncr.29706. Epub 2015 Nov 5.
3
Genetic instability and intratumoral heterogeneity in neuroblastoma with MYCN amplification plus 11q deletion.
具有 MYCN 扩增加 11q 缺失的神经母细胞瘤中的遗传不稳定性和肿瘤内异质性。
PLoS One. 2013;8(1):e53740. doi: 10.1371/journal.pone.0053740. Epub 2013 Jan 14.