Table 1 Hematological and cytogenetic features of all patients analyzed

Patient

Sex

Age

Diagnosis

Karyotype

mERRBS

RNA-seq

Mutations^a

DIC 1

M

67

MDS (ET, JAK2+)

47,XY,+1,dic(1;7)(p10;q10),+9[15]

Yes

Yes

Not available

DIC 2

M

75

t-MDS (lung cancer)

46,XY,+1,dic(1;7)(p11;q11)[14]/46,XY[1]

Yes

Yes

GGPS1 (R74H); ANKS1B (T247I)

DIC 3

F

79

t-MDS (NHL)

46,XX,+1,dic(1;7)(p11;q11),del(13)(q13q31)[2]/47,idem,+8[8]/46,XX[2]

Yes

Yes

Not available

DIC 4

M

42

t-MDS (melanoma)

46,XY,+1,dic(1;7)(q10;p10)[7]/46,XY[8]

Yes

Yes

Not available

DIC 5

M

45

MDS

47,XY,+1,dic(1;7)(q10;p10),+8[20]

Yes

Yes

CCDC8 (R429K); PSMF1 (P168L)

CTL 1

F

43

Wild type

46,XX[20]

Yes

NA

Not found

CTL 2

M

39

Wild type

46,XY[20]

Yes

Yes

Not found

CTL 3

F

46

Wild type

46,XX[20]

Yes

Yes

Not found

CTL 4

M

46

Wild type

46,XY[20]

Yes

Yes

Not found

CTL 5

F

63

Wild type

46,XX[20]

NA

Yes

Not found

t-MN 1

F

77

t-MDS (lymphoma)

46,XX[20]

Yes

Yes

TET2 (P1115L*2); SF3B1 (K700E)

t-MN 2

F

46

t-MDS (NHL)

51,XXX,del(4)(q13),−5,+6,+8,+11,−17,−18,+19,+22,+2mar[11]/46,XX[7]

Yes

Yes

TP53 (R273H)

t-MN 3

M

70

t-MDS (bowel carcinoma)

46,X,-Y,t(1;10)(q21;q21),−5,der(7)(?),del(7q)(q11),+8,+19,−22+mar[15]

NA

Yes

TP53 (C135L*4)

t-MN 4

F

80

t-MDS (ovarian cancer)

47,XX,+8[7]/46,XX[8]

Yes

Yes

Not found

t-MN 5

M

77

t-MDS (bladder cancer)

43–45,XY,−5,del(7q)(q21q36),−9,add(12p)(p11),−13,+16,add(17)(p11),+19,del(21)(q?),+22[7]

NA

Yes

TP53 (M246R)