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Table 1 Demographic, diagnostic data and karyotypes of Richter transformation patients

From: Cytogenomic features of Richter transformation

Patient

Gender/age (years); clinical presentation at RT diagnosis; survival (months)

RT diagnosis using FNAB (Yes/No); diagnostic material

RT diagnosis using HP/IHC (Yes/No), diagnostic material

RT diagnosis – type of neoplasm (clonality)

Karyotype

1a

F/63; SLL; D(1)

Yes; LNc

No

DLBCL,

NOS (r)

42~46,XX,der(1)(1pter→?1q32::?1q32→?1q21::?1q32→?1q21:)[8],-2[3],add(3)(q21)[8],

-4[3],add(7)(q3?6)[4],-9[8],add(12)(p1?2)[7],+14 or +15 [6],-17[4],-18[4],-19[5],-21[5],+3~4mar[cp8]/46,XX[4]

2

F/62; SLL; D(3)

Yes; LNc

Yes, LNc

DLBCL,

NOS (r)

44~48,XX,-1,add(6)(q1?5),del(7)(q32),+del(7)(q32),-9,del(12)(q13),add(17)(p11),-21,der(?)t(?;1)(?;p13), der(?;?)(?→cen→?::?→cen→?::12q13→12qter),+3~4mar[cp14]

3b

M/28; SLL; D(4)

Yes; LNc

Yes, LN

DLBCL,

NOS (r)

46,XY,del(2)(q23 or q31)[7]/47,sl,+3[2]/48,sdl1,+8[8]/46,XY[4]

4a,b

M/67; SLL; D(3)

Yes; LNc

No

DLBCL,

NOS (r)

38~47,XY,add(1)(p3?4)[7],-9[12],der(9)del(9)(p2?)del(9)(q1?3)[12],add(9)(q?13)[20],del(11)(q?21q?23)[14],-17[5],+18[3],-21[8],+22[3],+der(?;?)(?→cen→?::?→cen→?::3q13→3qter)[24][cp26]

5

M/55; CLL; D(<1)

No; PB

No

B-LBL (u)

46~47,XY,add(14)(q32),+add(18)(q2?),+mar[cp7]/46,XY[4]

6

F/62; SLL; D(19)

Yes; LNc, PB

Yes, BM

DLBCL,

NOS (r)

53~59,<2n>,XX,+?del(1)(q2?1)[2],+3[9],+4[6],+5[10],+del(6)(q13)[8],+7 [8],+del(7)(q22)[2],+del(9)(q2?2)[2],+13[7],15[4],+16[8],+del(17)(p11)[6],+18[3],+19[8],+der(?19)t(1;?19)(p13;q21)[3],+20[11],+21[4],+21[6],+mar[cp12]

7a

F/51; CLL; D(1)

No; PB

Yes, LI

DLBCL,

NOS (r)

45,XX,der(17)t(17;18)(p11.2;q11.2),-18[11]/45,idem,t(7;8)(p13;q24)[8]/46,XX[6]

8a,b

F/63; CLL; nd

No; PB

No

DLBCL,

NOS (r)

nd

9

M/62, SLL D(6)

Yes; ST

Yes, ST

DLBCL,

NOS (u)

48,XY,add(8)(p?11.2),der(14)t(8;14)(q24;q32),+2mar[7]/48,idem,del(12)(p1?3)[3]

10

F/75; SLL; D(3)

Yes; LNc

No

DLBCL,

NOS (r)

42~44,X,-X,-17,+mar1,inc[cp2]

11

F/83; SLL; D(5)

Yes; LNinq

No

PBL (u)

45~47,-X[6],add(X)(p22)[4],-2[3],del(6)(q21)[6],?add(14)(q32)[3],-16[5],der(19)t(11;19)(q13;p13.3)[5],-22[4],+1~7mar[cp7]/46,XX[1]

12a,b

M/62; SLL; D(7)

Yes; LNc, PB

No

DLBCL,

NOS (r)

71~86,XX,-Y,-1,add(3)(q2?7)x2,-4,-4,-5,-6,add(7)(q32)x3,-8,add(10)(q26)x2,add(11)(q23)x2,-12,-12,-13,-13,add(13)(q3?4)x2,-14,-14,add(14)(q32)x2,add(15)(p11)x2,-16,-17,+18,der(?)t(?;12) (?;q15)x2,+1~4mar[cp8]

13b

M/81; SLL; D(1)

Yes; LNc

No

DLBCL,

NOS (r)

46,XY,-13,add(14)(q32),+mar[4]/46,XY[5]

14

F/67; SLL; nd

Yes; LNc, PB

Yes, LN, BM

DLBCL,

NOS (r)

44~47,XX,-1[8],-4[3],add(7)(q22)[4],-13[6],-14[8], +der(14)(?::14q32→14p11.2::?→ cen→?::14p11.2→14q32::?)[9],-15[5],-16[7],-18[5],add(19)(p13)[5],+der(?)t(1;?)(p13;?)[9], +4~7mar[cp9]/ 46,XY[3]

15a

M/72; SLL; D(2)

Yes; LNab

No

DLBCL,

NOS (u)

47~50,XY,add(1)(q21)[10],+del(1)(p?31)[10],-2[6],del(3)(p12p14)[9], add(4)(q35)[10],-5[9],-7[10],-9[9],add(11)(q21)[7],-12[3],-13[7],-16[8],i(17)(q10)[10],-18[9],+20[10],+20[8], +21[5],+6-12mar[cp10]

16

F/70; SLL; D(11)

Yes, LNc, SofT

Yes, LN, SofT

DLBCL,

NOS (u)

44~44,XX,del(1)(p22p32),+del(1)(q3?2),add(8)(q24),-9,-11,add(13)(p13),-16,-17,-18, +7~11mar[cp4]

17a,b

M/65; SLL; A(60)

Yes; LNc

No

HGBL-11q (u)

47,X,-Y,dup(11)(q22q23),+12,+mar1[4]/47,idem,add(18)(q23)[5]

18.b

F/62; SLL; D(6)

Yes; LNc

No

DLBCL,

NOS (r)

46,XX,add(1)(q21),+del(1)(p22),-4,del(6)(q2?3),ins(7;?)(q22;?),-10,der(11)t(1;11)(q21;p15),del(13)(q?14q?22),add(19)(q13), +mar1[10]

19a,b

F/50; CLL; D(2)

Yes; LNc, PB

Yes, BM

DLBCL,

NOS (r)

46~49,XX,del(1)(p13),+del(1)(q12),-2, add(7)(q36),+add(7)(q36),t(8;14)(q24;q32),-9, add(10)(p13),der(14)t(9;14)(q13;p11.2),del(15)(q2?4),i(17)(q10),add(19)(q13),-22, add(22)(q11),+1~2mar[cp20]

20a

M/71; SLL; D(2)

Yes; LNc

Yes, LN

HS (u)

47,XY,+i(12)(q10),?t(15;22)(q15;q13)[9]/46,XY[2]

21b

F/66; CLL; D(7)

Yes; LN, PB,

Yes, BM

DLBCL,

NOS (r)

49,X,-X,add(1)(p13),t(2;?20)(p11.2;p11.2),+3,+6,del(6)(q2?3), t(8;14)(q24;q32),+18,+mar1[10]

22

M/60; SLL; D(4)

Yes; LNc

Yes, LNc

DLBCL,

NOS (u)

45,XY,+X,del(1)(p32),-2,-7,del(11)(q21),-14,add(15)(p13),add(16)(q24),del(17)(p11),+mar1[7]/46,XY[1]

23a,b

M/42; CLL; D(2)

No; PB, BM

Yes, BM

DLBCL,

NOS (r)

42~43,X,-Y,der(1)add(1)(p36)del(1)(q25)[5],-3[3],-4[5],add(4)(q3?5)[5],-5[3],add(7)(q36)[4],-8[5],-9[3],-10[4],-12[5],-13[5],add(15)(q15)[5], +mar1[3],+mar2[5],+mar3[4][cp5]/ 43~45,XY,add(1)(q4?4)[4],-4[4],add(4)(q3?5)[4],add(7)(q36)[4],-8[4],-9[4],-10[3],-12[4],-13[4], add(15)(q15)[4],+mar1[4],+mar2[2],+3mar[3][cp4]/ 45,XY[1]

24.

F/68; CLL; D(8)

No; BM

Yes, BM

DLBCL,

NOS (r)

54,X,der(X)t(X;1)(p22;p13),-1,del(4)(q2?6),add(8)(p?11.2),+9,del(10)(p12),+11,+13,+13, del(13)(q2?1q2?2),+14,+19,-20,+21,+der(?)t(?;1)(?;q21),+mar1,+mar2[8]/46,XX[3]

25

F/61; CLL; D(<1)

Yes; LNc, PB

No

DLBCL,

NOS (r)

46,XX,add(1)(p36),-5,ins(7;?)(q22;?),-8,del(9)(q?21q?22),-16,del(17)(p11.2),add(19)(q13),+mar1,+mar2,+mar3[10]

26a

M/63; CLL; A(68)

Yes; LNc,

Yes, LN

DLBCL,

NOS (u)

46~50,XY,+X[3],add(1)(p36)[6],-4[5],+7[5],+10[4],+11[6],t(14;18)(q32;q21)[5],add(15)(q26)[5],+mar1[5],+mar2[3],+1~4mar[4][cp6]/46,XY,add(6)(q2?7)[2]/46,XY[2]

27

M/81; SLL; D(1)

Yes; LNc,

No

DLBCL,

NOS (r)

46,XY,-13,add(14)(q32),+mar[4]/46,XY[5]

28a

M/53; SLL; D(4)

Yes; jaw tumor, PF

Yes, oral gingiva

DLBCL,

NOS (u)

44~47,XX,del(1)(p2?2)[2],del(1)(q12)[2],+7[3],del(8)(q24)[2],add(14)(q32)[3],-17[3],+der(?)t(?;1)(?;q21)[3][cp4]/46,XX[1]

29

F/94; CLL; A(5)

Yes; LNax, PB

No

DLBCL,

NOS (u)

46,XX,del(1)(p13),der(1)add(1)(p3?6)?add(1)(q25),+del(3)(q2?5),del(6)(q21),i(6)(p10),add(9)(p13),del(13)(q22),-14,-15,+18,add(19)(p13),-21,-22,+mar1,+mar2[10]

30a

M/71; SLL; D(2)

Yes; LNab

No

HGBL,

NOS (u)

47~50,XY,add(1)(q21)[10],+del(1)(p?31)[10],-2[6],del(3)(p12p14)[9],add(4)(q35)[10],-5[9],-7[10],-9[9],add(11)(q21)[7],-12[3],-13[7],-16[8],i(17)(q10)[10],-18[9],+20[10],+20[8],+21[5],+6~12mar[cp10]

31

M/78; SLL; D(<1)

Yes; LNil

No

DLBCL,

NOS (r)

nd

32

M/87; CLL; nd

No; PB

No

DLBCL,

NOS (r)

47,XY,+5,del(2)(p11.2),der(8)t(2;8)(p11.2;q24),del(11)(q21),der(14)t(8;14)(q24;q32)[15]

33

M/66; CLL; D(9)

Yes; LNax

Yes, LN

DLBCL,

NOS (r)

85~93,XXYY,+mar[4][cp6]/46,XY[2]

  1. aRT cases with CLL/SLL paired data, bRT cases with array examination
  2. A Alive, BM Bone marrow/trephine bone marrow biopsy, B-LBL: B-lymphoblastic lymphoma, CLL Chronic lymphocytic leukemia, D Dead, DLBCL,NOS: Diffuse large B-cell lymphoma, not otherwise specified, FNAB Fine needle aspiration biopsy, HP/IHC Histopathological/immunohistochemical examination, HGBL,NOS High-grade B-cell lymphoma, not otherwise specified, HGBL-11q High-grade B-cell lymphoma with 11q aberrations, nd no data, HS Myeloid/histiocytic sarcoma, LI Large intestine, LN Lymph node, LNab Abdominal lymph node, LNax Axillary lymph node, LNc Cervical lymph node, LNil iliac lymph, LNing inguinal lymph node, node, PB Peripheral blood, PBL Plasmablastic lymphoma, PF Pleural fluid, r Clonally related by FCM algorithm, RT Richter transformation, SLL Small lymphocytic lymphoma, SofT Soft tissue, ST Subcutaneous tumor, u Clonally unrelated by FCM algorithm