SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value

被引：178

作者：

Patnaik, Mrinal M. ^{[1
]}

Lasho, Terra L. ^{[1
]}

Hodnefield, Janice M. ^{[2
]}

Knudson, Ryan A. ^{[3
]}

Ketterling, Rhett P. ^{[3
]}

Garcia-Manero, Guillermo ^{[4
]}

Steensma, David P. ^{[5
]}

Pardanani, Animesh ^{[1
]}

Hanson, Curtis A. ^{[2
]}

Tefferi, Ayalew ^{[1
]}

机构：

[1] Mayo Clin, Div Hematol, Rochester, MN 55905 USA

[2] Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA

[3] Mayo Clin, Cytogenet Div, Rochester, MN 55905 USA

[4] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA

[5] Dana Farber Canc Inst, Boston, MA 02115 USA

来源：

BLOOD | 2012年 / 119卷 / 02期

关键词：

ANEMIA; MYELOFIBROSIS;

D O I：

10.1182/blood-2011-09-377994

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

SF3B1 mutations were recently reported in myelodysplastic syndromes (MDSs), especially in the presence of ring sideroblasts (RSs). We sought to define the interaction between SF3B1 mutations, morphology, karyotype, and prognosis in MDS with more than or equal to 15% RS (MDS-RS). We studied 107 patients with MDS-RS, including 48 with refractory anemia with RS (RARS), 43 with refractory cytopenia with multilineage dysplasia (RCMD)-RS, 11 with refractory anemia with excess blasts-1 (RAEB1)-RS, and 5 with RAEB2-RS. SF3B1 mutations were detected in 53 (similar to 50%) patients: 35 RARS (73%), 16 RCMD-RS (37%), and 2 RAEB1-RS (18%). In univariate analysis, the presence of SF3B1 mutations was associated with better overall (P < .01) and leukemia-free (P < .01) survival; however, in both instances, significance was completely accounted for by World Health Organization morphologic risk categorization. In other words, when RARS and RCMD-RS were analyzed separately, there was no additional prognostic value from the presence or absence of SF3B1 mutations. (Blood. 2012; 119(2): 569-572)

引用

页码：569 / 572

页数：4

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