Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes

被引：77

作者：

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

Lorenz, Rachelle ^{[1
,2
]}

Nedumgottil, Siya ^{[1
,2
]}

Onel, Kenan ^{[2
,3
]}

Olopade, Olufunmilayo I. ^{[1
,2
]}

Sorrell, April ^{[4
]}

Owen, Carolyn J. ^{[5
]}

Bertuch, Alison A. ^{[6
]}

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

机构：

[1] Univ Chicago, Dept Med, Sect Hematol Oncol, Chicago, IL 60637 USA

[2] Univ Chicago, Ctr Clin Canc Genet, Chicago, IL 60637 USA

[3] Univ Chicago, Sect Hematol Oncol, Dept Pediat, Chicago, IL 60637 USA

[4] City Hope Natl Med Ctr, Dept Hematol & Hematopoiet Cell Transplantat, Duarte, CA USA

[5] Univ Calgary, Div Hematol & Hematol Malignancies, Calgary, AB, Canada

[6] Baylor Coll Med, Dept Pediat, Sect Hematol Oncol, Houston, TX 77030 USA

来源：

LEUKEMIA & LYMPHOMA | 2013年 / 54卷 / 01期

关键词：

Predisposition; leukemia; MDS; RUNX1; GATA2; CEBPA; ACUTE MYELOID-LEUKEMIA; ACUTE MYELOGENOUS LEUKEMIA; MARROW FAILURE SYNDROMES; PLATELET DISORDER; SPORADIC MONOCYTOPENIA; DYSKERATOSIS-CONGENITA; AUTOSOMAL-DOMINANT; MUTATIONS; PROPENSITY; MALIGNANCIES;

D O I：

10.3109/10428194.2012.701738

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

As with most genetic cancer predisposition syndromes, inherited susceptibility to myelodysplastic syndrome (MDS) and acute leukemia (AL) is likely to be more common than previously appreciated. As next-generation sequencing technologies become integrated into clinical practice, we anticipate that the number of cases of familial MDS/AL identified will increase. Although the existence of syndromes predisposing to MDS/AL has been known for some time, clinical guidelines for the screening and management of suspected or confirmed cases do not exist. Based on our collective experience caring for families with these syndromes, we propose recommendations for genetic counseling, testing, and clinical management. We welcome discussion about these proposals and hope that they will catalyze an ongoing dialog leading to optimal medical and psychosocial care for these patients.

引用

页码：28 / 35

页数：8

共 41 条

[1] Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study [J].

Alter, Blanche P. ;

Giri, Neelam ;

Savage, Sharon A. ;

Peters, June A. ;

Loud, Jennifer T. ;

Leathwood, Lisa ;

Carr, Ann G. ;

Greene, Mark H. ;

Rosenberg, Philip S. .

BRITISH JOURNAL OF HAEMATOLOGY, 2010, 150 (02) :179-188

[2]

Alter BP, 2003, NATHAN OSKIS HEMATOL, P280

[3]

[Anonymous], 2011, NCCN Clinical Practice Guidelines in Oncology, Hepatobiliary Cancers

[4] A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies [J].

Buijs, A ;

Poddighe, P ;

van Wijk, R ;

van Solinge, W ;

Borst, E ;

Verdonck, L ;

Hagenbeek, A ;

Pearson, P ;

Lokhorst, H .

BLOOD, 2001, 98 (09) :2856-2858

[5] Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications [J].

Calvo, Katherine R. ;

Vinh, Donald C. ;

Maric, Irina ;

Wang, Weixin ;

Noel, Pierre ;

Stetler-Stevenson, Maryalice ;

Arthur, Diane C. ;

Raffeld, Mark ;

Dutra, Amalia ;

Pak, Evgenia ;

Myung, Kyungjae ;

Hsu, Amy P. ;

Hickstein, Dennis D. ;

Pittaluga, Stefania ;

Holland, Steven M. .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2011, 96 (08) :1221-1225

[6] A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions [J].

Clancy, Tara .

FAMILIAL CANCER, 2010, 9 (01) :9-14

[7] Hematopoietic stem cell transplantation for severe congenital neutropenia [J].

Connelly, James A. ;

Choi, Sung W. ;

Levine, John E. .

CURRENT OPINION IN HEMATOLOGY, 2012, 19 (01) :44-51

[8] Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch Syndrome [J].

Dewanwala, Akriti ;

Chittenden, Anu ;

Rosenblatt, Margery ;

Mercado, Rowena ;

Garber, Judy E. ;

Syngal, Sapna ;

Stoffel, Elena M. .

FAMILIAL CANCER, 2011, 10 (03) :549-556

[9] Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency [J].

Dickinson, Rachel Emma ;

Griffin, Helen ;

Bigley, Venetia ;

Reynard, Louise N. ;

Hussain, Rafiqul ;

Haniffa, Muzlifah ;

Lakey, Jeremy H. ;

Rahman, Thahira ;

Wang, Xiao-Nong ;

McGovern, Naomi ;

Pagan, Sarah ;

Cookson, Sharon ;

McDonald, David ;

Chua, Ignatius ;

Wallis, Jonathan ;

Cant, Andrew ;

Wright, Michael ;

Keavney, Bernard ;

Chinnery, Patrick F. ;

Loughlin, John ;

Hambleton, Sophie ;

Santibanez-Koref, Mauro ;

Collin, Matthew .

BLOOD, 2011, 118 (10) :2656-2658

[10] Inherited bone marrow failure syndromes [J].

Dokal, Inderjeet ;

Vulliamy, Tom .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 (08) :1236-1240

← 1 2 3 4 5 →