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Table 1 Cytogenetic and molecular abnormalities in MPDs

From: Molecular Defects in Chronic Myeloproliferative Disorders

Disease

Genes

Cytogenetics

References

CML

BCR, ABL P53, Rb, p16ink4a, RAS, EVI 1, AML

t(9;22) p ]−7, −17, −Y, +17, +21, t(3:21)(q26:q22)

17–20, 31, 32–38

CNL

 

del (20q), p ]del (11q14), t(2;2)(q32:p24)

38–40

CMML

RAS, Tel, PDGFR, NF1

t(5;12)(q33:p13), p ]t(5;10) p ]t(5;7)(q33;q11.2), p ]+ 8, −5, −7, −11, p ]del(14q), t(3;6), t(8;9)

41–49

PV

EPO and EPO-receptor Jak-STAT

+ 8,+ 19, del(20q), p ]t(Y;1), t(3;17), del(13q)

50–54, 59–61

ET

 

+8, t(X;5), inv 3, p ]t(13;14), t(2;3), 11q21

63–67

AMM

 

del(3q), del(13q), p ]t(1;20), t(1;7), 5q-, 7q-, +9, del(20q), t(4;13), der(1q9p), + 8, t(5;17)

83–91

JCML

RAS, NF1

−7,7q-

95–98

Hypereosinophilic Syndrome

 

Dic(1,7), del(20q), −7, + 8

102–105

Mastocytosis

c-kit receptor

+ 8, + 9

110–114

8p11 Myeloproliferative Syndrome

FGFR1, ZNF198 (FIM, RAMP), FOP, MOZ,

t(6;8), t(8;9), t(8;13), t(8;14)

115–120

  1. MPDs, myeloproliferative disorders; CML, chronic myeloid leukemia; CNL, chronic neutrophilic leukemia; CMML, chronic myelomonocytic leukemia; PV, polycythemia vera; ET, essential thrombocythemia; AMM, agnogenic myeloid metaplasia; JCML, juvenile chronic myeloid leukemia.