Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy

被引：36

作者：

Rojek, Katarzyna ^{[1
,2
]}

Nickels, Eric ^{[1
,2
]}

Neistadt, Barbara ^{[1
,2
]}

Marquez, Rafael ^{[1
,2
]}

Wickrema, Amittha ^{[1
,2
]}

Artz, Andrew ^{[1
,2
]}

van Besien, Koen ^{[1
,2
,10
]}

Larson, Richard A. ^{[1
,2
]}

Lee, Ming K. ^{[3
,4
]}

Segal, Jeremy P. ^{[5
]}

King, Mary-Claire ^{[3
,4
]}

Walsh, Tom ^{[3
,4
]}

Shimamura, Akiko ^{[6
,7
,11
]}

Keel, Sioban B. ^{[8
]}

Churpek, Jane E. ^{[1
,2
,9
]}

Godley, Lucy A. ^{[1
,2
,9
]}

机构：

[1] Univ Chicago, Dept Med, Sect Hematol Oncol, 5841 S Maryland Ave MC2115, Chicago, IL 60637 USA

[2] Univ Chicago, Ctr Comprehens Canc, 5841 S Maryland Ave MC2115, Chicago, IL 60637 USA

[3] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA

[4] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[5] Univ Chicago, Dept Pathol, Div Genom & Mol Pathol, 5841 S Maryland Ave MC2115, Chicago, IL 60637 USA

[6] Univ Washington, Fred Hutchinson Canc Res Ctr, Seattle Childrens Hosp, Clin Res Div,Pediat Hematol Oncol, Seattle, WA 98195 USA

[7] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

[8] Univ Washington, Dept Med, Div Hematol, Seattle, WA 98195 USA

[9] Univ Chicago, Ctr Clin Canc Genet, 5841 S Maryland Ave MC2115, Chicago, IL 60637 USA

[10] New York Presbyterian Hosp, Weill Cornell Med Coll, Dept Hematol & Med Oncol, New York, NY USA

[11] Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA

来源：

BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION | 2016年 / 22卷 / 11期

关键词：

Donor-derived leukemia; TET2; mutation; Clonal hematopoiesis of indeterminate potential; BONE-MARROW FAILURE; CLONAL HEMATOPOIESIS; MUTATIONS;

D O I：

10.1016/j.bbmt.2016.08.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Analysis of the clinical characteristics of hematopoietic stem cell transplant (HSCT) donors has proven beneficial for identifying cases of heritable hematopoietic disorders. This study examines poor peripheral blood hematopoietic stem cell mobilization after granulocyte colony-stimulating factor administration among 328 donors as a potential marker for suspected familial predisposition to myeloid malignancies. Here, we present data comparing the clinical characteristics of poor-mobilizing versus nonpoor-mobilizing donors and the results of panel-based sequencing of hematopoietic genes in poor-mobilizing donors. From this analysis, we identified a novel case of a donor-derived myelodysplastic syndrome in an HSCT recipient that is consistent with clonal evolution of TET2-mutated clonal hematopoiesis of indeterminate potential (CHIP) within the donor. This study demonstrates the potential risk of using hematopoietic stem cells from a donor with CHIP and raises the question of whether there should be increased screening measures to identify such donors. (C) 2016 American Society for Blood and Marrow Transplantation.

引用

页码：2100 / 2103

页数：4

共 8 条

[1] Identifying familial myelodysplastic/acute leukemia predisposition syndromes through hematopoietic stem cell transplantation donors with thrombocytopenia [J].

Churpek, Jane E. ;

Nickels, Eric ;

Marquez, Rafael ;

Rojek, Katarzyna ;

Liu, Bohao ;

Lorenz, Rachelle ;

Lepore, Janet ;

Madzo, Jozef ;

Wickrema, Amittha ;

Artz, Andrew S. ;

van Besien, Koen ;

Godley, Lucy A. .

BLOOD, 2012, 120 (26) :5247-5249

[2] Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA [J].

Fogarty, PF ;

Yamaguchi, H ;

Wiestner, A ;

Baerlocher, GM ;

Sloand, E ;

Zeng, WHS ;

Read, EJ ;

Lansdorp, PM ;

Young, NS .

LANCET, 2003, 362 (9396) :1628-1630

[3] Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence [J].

Genovese, Giulio ;

Kaehler, Anna K. ;

Handsaker, Robert E. ;

Lindberg, Johan ;

Rose, Samuel A. ;

Bakhoum, Samuel F. ;

Chambert, Kimberly ;

Mick, Eran ;

Neale, Benjamin M. ;

Fromer, Menachem ;

Purcell, Shaun M. ;

Svantesson, Oscar ;

Landen, Mikael ;

Hoeglund, Martin ;

Lehmann, Soeren ;

Gabriel, Stacey B. ;

Moran, Jennifer L. ;

Lander, Eric S. ;

Sullivan, Patrick F. ;

Sklar, Pamela ;

Groenberg, Henrik ;

Hultman, Christina M. ;

McCarroll, Steven A. .

NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (26) :2477-2487

[4] Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes [J].

Jaiswal, Siddhartha ;

Fontanillas, Pierre ;

Flannick, Jason ;

Manning, Alisa ;

Grauman, Peter V. ;

Mar, Brenton G. ;

Lindsley, R. Coleman ;

Mermel, Craig H. ;

Burtt, Noel ;

Chavez, Alejandro ;

Higgins, John M. ;

Moltchanov, Vladislav ;

Kuo, Frank C. ;

Kluk, Michael J. ;

Henderson, Brian ;

Kinnunen, Leena ;

Koistinen, Heikki A. ;

Ladenvall, Claes ;

Getz, Gad ;

Correa, Adolfo ;

Banahan, Benjamin F. ;

Gabriel, Stacey ;

Kathiresan, Sekar ;

Stringham, Heather M. ;

McCarthy, Mark I. ;

Boehnke, Michael ;

Tuomilehto, Jaakko ;

Haiman, Christopher ;

Groop, Leif ;

Atzmon, Gil ;

Wilson, James G. ;

Neuberg, Donna ;

Altshuler, David ;

Ebert, Benjamin L. .

NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (26) :2488-2498

[5] Effects of granulocyte-colony-stimulating factor on Monosomy 7 aneuploidy in healthy hematopoietic stem cell and granulocyte donors [J].

Olnes, Matthew J. ;

Poon, Andrea ;

Miranda, Susan J. ;

Pfannes, Loretta ;

Tucker, Zachary ;

Loeliger, Kelsey ;

Padilla-Nash, Hesed ;

Yau, Yu Ying ;

Ried, Thomas ;

Leitman, Susan F. ;

Young, Neal S. ;

Sloand, Elaine M. .

TRANSFUSION, 2012, 52 (03) :537-541

[6] Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure [J].

Vulliamy, TJ ;

Walne, A ;

Baskaradas, A ;

Mason, PJ ;

Marrone, A ;

Dokal, I .

BLOOD CELLS MOLECULES AND DISEASES, 2005, 34 (03) :257-263

[7] Donor Cell Leukemia: A Review [J].

Wiseman, Daniel H. .

BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION, 2011, 17 (06) :771-789

[8] Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity [J].

Zhang, Michael Y. ;

Keel, Sioban B. ;

Walsh, Tom ;

Lee, Ming K. ;

Gulsuner, Suleyman ;

Watts, Amanda C. ;

Pritchard, Colin C. ;

Salipante, Stephen J. ;

Jeng, Michael R. ;

Hofmann, Inga ;

Williams, David A. ;

Fleming, Mark D. ;

Abkowitz, Janis L. ;

King, Mary-Claire ;

Shimamura, Akiko .

HAEMATOLOGICA, 2015, 100 (01) :42-48

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