Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia

被引：63

作者：

Gaikwad, Amos ^{[1
]}

Rye, Cassia L. ^{[2
]}

Devidas, Meenakshi ^{[3
]}

Heerema, Nyla A. ^{[4
]}

Carroll, Andrew J. ^{[5
]}

Izraeli, Shai ^{[6
,9
]}

Plon, Sharon E. ^{[1
]}

Basso, Giuseppe ^{[7
]}

Pession, Andrea ^{[8
]}

Rabin, Karen R. ^{[1
]}

机构：

[1] Baylor Coll Med, Texas Childrens Canc Ctr, Div Pediat Hematol Oncol, Houston, TX 77030 USA

[2] Univ Colorado, Dept Mol Cellular & Dev Biol, Boulder, CO 80309 USA

[3] Univ Florida, Coll Med, Gainesville, FL USA

[4] Ohio State Univ, Nationwide Childrens Hosp, Columbus, OH 43210 USA

[5] Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA

[6] Safra Childrens Hosp, Canc Res Ctr, Chaim Sheba Med Ctr, Ramat Gan, Israel

[7] Univ Hosp Padova, Dept Paediat, Lab Paediat Oncohaematol, Padua, Italy

[8] Univ Bologna, Paediat Oncol & Haematol Unit Lalla Seragnoli, Bologna, Italy

[9] Tel Aviv Univ, Sch Med, IL-69978 Tel Aviv, Israel

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2009年 / 144卷 / 06期

基金：

美国国家卫生研究院;

关键词：

Down syndrome; paediatric; acute lymphoblastic leukaemia; JAK2; PATIENT;

D O I：

10.1111/j.1365-2141.2008.07552.x

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Recurrent, prognostically significant chromosomal abnormalities occur in approximately 75% of paediatric acute lymphoblastic leukaemia (ALL), but only infrequently in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in the gene Janus kinase 2 (JAK2) were reported in 18% of DS ALL. Here we report identification and clinical correlates of JAK2 mutations in an independent cohort. JAK2 activating mutations occurred in 10/53 DS ALL cases (18.9%). Mutations were overrepresented in males (P < 0.03), occurred once in association with high hyperdiploidy and were not significantly correlated with age, initial white blood count, or event-free survival. Our results confirm the significance of JAK-STAT pathway activation in DS ALL.

引用

页码：930 / 932

页数：3

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