Myeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation: a study from the Bone Marrow Pathology Group

被引：3

作者：

de Cap, Maximiliano Ramia ^{[1
,2
,3
]}

Wu, Leo ^{[1
,2
]}

Hirt, Christian ^{[1
,2
]}

Pihan, German A. ^{[1
,2
]}

Patel, Sanjay S. ^{[4
]}

Tam, Wayne ^{[4
]}

Bueso-Ramos, Carlosn E. ^{[5
]}

Kanagal-Shamanna, Rashmi ^{[5
]}

Raess, Philipp W. ^{[6
]}

Siddon, Alexa ^{[7
]}

Narayanan, Damodaran ^{[1
,8
]}

Morgan, Elizabeth A. ^{[1
,8
]}

Pinkus, Geraldine S. ^{[1
,8
]}

Mason, Emily F. ^{[9
]}

Hsi, Eric D. ^{[10
]}

Rogers, Heesun J. ^{[11
]}

Toth, Laura ^{[12
]}

Foucar, Kathryn ^{[12
]}

Hurwitz, Stephanie N. ^{[13
]}

Bagg, Adam ^{[13
]}

Rets, Anton ^{[14
,15
]}

George, Tracy I. ^{[14
,15
]}

Orazi, Attilio ^{[16
]}

Arber, Daniel A. ^{[17
]}

Hasserjian, Robert P. ^{[1
,18
]}

Weinberg, Olga K. ^{[19
]}

机构：

[1] Harvard Med Sch, Boston, MA USA

[2] Beth Israel Deaconess Med Ctr, Boston, MA USA

[3] North Bristol NHS Trust, Bristol, England

[4] Weill Cornell Med Coll, New York, NY USA

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

[6] Oregon Hlth & Sci Univ, Dept Pathol, Portland, OR USA

[7] Yale Sch Med, New Haven, CT USA

[8] Brigham & Womens Hosp, Boston, MA USA

[9] Vanderbilt Univ, Med Ctr, Nashville, TN USA

[10] Wake Forest Baptist Hlth, Winston Salem, NC USA

[11] Cleveland Clin, Cleveland, OH USA

[12] Univ New Mexico, Dept Pathol, Albuquerque, NM USA

[13] Univ Penn, Dept Pathol, Philadelphia, PA USA

[14] ARUP Labs, Salt Lake City, UT USA

[15] Univ Utah, Dept Pathol, Salt Lake City, UT USA

[16] Texas Tech Univ Hlth Sci Ctr, Lubbock, TX USA

[17] Univ Chicago, Dept Pathol, Chicago, IL USA

[18] Massachusetts Gen Hosp, Boston, MA USA

[19] UT Southwestern Med Ctr, Dallas, TX USA

来源：

LEUKEMIA & LYMPHOMA | 2023年 / 64卷 / 05期

关键词：

Hematopoiesis; leukemic progenitor cells; neoplasia; genetic and other predisposing conditions; myeloid leukemias and dysplasias; HEALTH-ORGANIZATION CLASSIFICATION; GRANULOCYTIC-SARCOMA; LEUKEMIA; OUTCOMES;

D O I：

10.1080/10428194.2023.2185091

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Myeloid sarcoma (MS) is currently considered equivalent to de novo acute myeloid leukemia (AML); however, the relationship between these entities is poorly understood. This retrospective multi-institutional cohort study compared 43 MS with NPM1 mutation to 106 AML with NPM1 mutation. Compared to AML, MS had more frequent cytogenetic abnormalities including complex karyotype (p = .009 and p = .007, respectively) and was enriched in mutations of genes involved in histone modification, including ASXL1 (p = .007 and p = .008, respectively). AML harbored a higher average number of gene mutations (p = .002) including more frequent PTPN11 mutations (p < .001) and mutations of DNA-methylating genes including DNMT3A and IDH1 (both p < .001). MS had significantly shorter overall survival (OS) than AML (median OS: 44.9 vs. 93.2 months, respectively, p = .037). MS with NPM1 mutation has a unique genetic landscape, and poorer OS, compared to AML with NPM1 mutation.

引用

页码：972 / 980

页数：9

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