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Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group.
Cancer Genetics ( IF 1.4 ) Pub Date : 2019-07-30 , DOI: 10.1016/j.cancergen.2019.07.009
Andrew J Carroll 1 , Mary Shago 2 , Fady M Mikhail 1 , Susana C Raimondi 3 , Betsy A Hirsch 4 , Mignon L Loh 5 , Elizabeth A Raetz 6 , Michael J Borowitz 7 , Brent L Wood 8 , Kelly W Maloney 9 , Leonard A Mattano 10 , Eric C Larsen 11 , Julie Gastier-Foster 12 , Eileen Stonerock 13 , Denise Ell 13 , Samir Kahwash 13 , Meenakshi Devidas 14 , Richard C Harvey 15 , I-Ming L Chen 15 , Cheryl L Willman 15 , Stephen P Hunger 16 , Naomi J Winick 17 , William L Carroll 6 , Kathleen W Rao 18 , Nyla A Heerema 19
Affiliation  

Hyperdiploidy with greater than 50 chromosomes is usually associated with favorable prognosis in pediatric acute lymphoblastic leukemia (ALL), whereas hypodiploidy with ≤43 chromosomes is associated with extremely poor prognosis. Sometimes, hypodiploidy is “masked” and patients do not have a karyotypically visible clone with ≤43 chromosomes. Instead, their abnormal karyotypes contain 50–78 or more chromosomes from doubling of previously hypodiploid cells. When the hypodiploid and doubled hyperdiploid clones are both present, patients can be identified by traditional test methods [karyotype, DNA Index (DI), fluorescence in situ hybridization (FISH)], but the incidence of masked hypodiploid cases in which only the doubled clone is visible is unknown. We analyzed 7013 patients with B-ALL enrolled in COG AALL03B1 (2003–2011) for whom chromosome studies were available. Of 115 patients with hypodiploidy (25–39 chromosomes), karyotypes of 40 showed only the hypodiploid clone, 47 showed mosaicism with both hypodiploid and hyperdiploid (doubled) karyotypes, and 28 with masked hypodiploidy showed only a hyperdiploid (doubled) clone. Unique karyotypic signatures were identified, and widespread loss of heterozygosity (LOH) was seen in the microsatellite panel for all patients with masked hypodiploidy. An increased awareness of the unusual karyotypic profile associated with a doubled hypodiploid clone and coordinated use of DI, FISH, and LOH studies when indicated can identify patients with masked hypodiploidy and allow appropriate treatment selection.



中文翻译:

假面二倍体:儿童二倍体急性淋巴细胞白血病(ALL)模仿儿童的超二倍体ALL:儿童肿瘤学组的报告。

在儿童急性淋巴细胞白血病(ALL)中,具有超过50条染色体的超二倍体通常与良好的预后相关,而具有≤43个染色体的次二倍体与预后极差相关。有时,“二倍体”被“掩盖”,并且患者没有染色体核型可见的≤43个染色体的克隆。相反,它们的异常核型包含先前倍二倍体细胞加倍的50–78条或更多的染色体。当存在二倍体和双倍的双倍体克隆时,可以通过传统的测试方法[核型,DNA指数(DI),荧光原位杂交(FISH)]来鉴定患者,但是只有双倍克隆的被掩盖的二倍体病例的发生率是否可见未知。我们分析了7013例COG AALL03B1(2003-2011年)的B-ALL患者,这些患者可进行染色体研究。在115位具有二倍体性(25-39条染色体)的患者中,40位的核型仅显示了二倍体克隆,47位的显示出了具有二倍体和超二倍体(双倍)核型的镶嵌,28位的隐蔽的二倍体仅显示了高二倍体(双倍)。识别出独特的核型特征,并且在微卫星组中发现所有患有假性二倍体的患者都广泛分布了杂合性(LOH)。对双倍体二倍体克隆相关的异常核型谱的认识增强,并在指示时协同使用DI,FISH和LOH研究可以识别患有假性二倍体的患者,并允许适当的治疗选择。在115位具有二倍体性(25-39条染色体)的患者中,40位的核型仅显示了二倍体克隆,47位的显示出了具有二倍体和超二倍体(双倍)核型的镶嵌,28位的隐蔽的二倍体仅显示了高二倍体(双倍)。识别出独特的核型特征,并且在微卫星组中发现所有患有假性二倍体的患者都广泛分布了杂合性(LOH)。对双倍体二倍体克隆相关的异常核型谱的认识增强,并在指示时协同使用DI,FISH和LOH研究可以识别患有假性二倍体的患者,并允许适当的治疗选择。在115位具有二倍体性(25-39条染色体)的患者中,40位的核型仅显示了二倍体克隆,47位的显示出了具有二倍体和超二倍体(双倍)核型的镶嵌,28位的隐蔽的二倍体仅显示了高二倍体(双倍)。识别出独特的核型特征,并且在微卫星组中发现所有患有假性二倍体的患者都广泛分布了杂合性(LOH)。对双倍体二倍体克隆相关的异常核型谱的认识增强,并在指示时协同使用DI,FISH和LOH研究可以识别患有假性二倍体的患者,并允许适当的治疗选择。带有假二倍体的28个克隆只显示了一个超二倍体(双倍)克隆。识别出独特的核型特征,并且在微卫星组中发现所有患有假性二倍体的患者都广泛分布了杂合性(LOH)。对双倍体二倍体克隆相关的异常核型谱的认识增强,并在指示时协同使用DI,FISH和LOH研究可以识别患有假性二倍体的患者,并允许适当的治疗选择。带有假二倍体的28个克隆只显示了一个超二倍体(双倍)克隆。识别出独特的核型特征,并且在微卫星组中发现所有患有假性二倍体的患者都广泛分布了杂合性(LOH)。对双倍体二倍体克隆相关的异常核型谱的认识增强,并在指示时协同使用DI,FISH和LOH研究可以识别患有假性二倍体的患者,并允许适当的治疗选择。

更新日期:2019-07-30
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