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Table 2 I-FISH, MLPA and SNP array findings for two lesions of case no. 2

From: Primary and recurrent diffuse astrocytomas: genomic profile comparison reveals acquisition of biologically relevant aberrations

 

MLPA

MS-MLPA

I-FISH

SNP array

Treatment

Gene

Location

Result

Gene

Result

First resection - anaplastic astrocytoma

IDH1

2q33.3

R132H

MSH2

normal

deletion of CDKN2A

deletion of subtelomeric 16q

(X)x1,

(2)x2hmz,

3p26.3p11.1(66,894-90,089,238)x2hmz,

4q12q13.1(52,728,324-66,300,425)x1,

(5)x1,6p25.3p21.33(204,909-31,335,647)x1,

6q22.33q27(128,989,302-170,898,549)x1,

7p22.3p22.1(46,239-5,016,400) x1,

7q22.1q36.3(98,451,358-159,119,486)x3,

9p24.3p13.1(46,587-38,771,460)x1,

10q21.2q26(61,465,713-135,430,043)x1,

11p15.5p11.2(203,788-47,430,599)x2hmz,

11p11.2 (47,801,101-51,274,692)x1,

12q12q24.33(38,416,139-133,429,634) x2hmz,

13q12.11q14.2(19,888,741-50,144,613)x2hmz,

13q14.2q21.33(50,283,115-69,338,113)cth,

14q11.2q22.2(20,213,937-54,316,607)x2hmz,

14q23.2q32,12(62,420,606-93,152,220)x1,

15q21.1q24.1(46,805,269-74,506,930)x1,

(16)x2hmz, 17p13.3p11.2(18,901-20,219,226) x2hmz,

17q25.3(79,894,097-81,047,565)x1,

18q23(76,324,504-78,014,582)x1,

19p13.3 (267,039-1,569,839)x3,

(21)x2hmz,

(22)x2hmz

Chemotherapy

CRBN

3p26.3

normal

CRELD1

3p25.3

normal

VHL

3p25.3

normal

MSH6

normal

PPARG

3p25.1

normal

RAF1

3p25.1

normal

HESX1

3p14.3

normal

MLH1

normal

LFNG

7p22.2

del

FKBP9

7p14.3

normal

GLI3

7p14.1

normal

MSH3

normal

ADAM22

7q21.12

normal

TFR2

7q22.1

normal

KIAA1549

7q34

amp

PMS2

normal

HIPK2

7q34

amp

MKRN1

7q34

amp

BRAF

7q34

amp

MGMT

methylated (19 %)

DPP6

7q36.2

amp

MIR31

9p21.3

del

CDKN2A

9p21.3

del

MLH3

normal

CDKN2B

9p21.3

del

IDH2

15q26.1

normal

Second resection - anaplastic astrocytoma

IDH1

2q33.3

R132H

MSH2

normal

deletion of CDKN2A

deletion of PTEN

(X)x1,

1q41q43(216,318,021-241,388,129) x2hmz,

2q14.2q22.3(120,617,488-144,598,432) x2hmz,

4q12q13.1 (52,728,324-66,300,425)x1,

(5)x1,6p25.3p21.33 (204,909-31,335,647)x1,

6q22.33q27(128,989,302-170,898,549)x1,

7p22.3p22.1 (46,239-5,016,400)x1,

7q22.1q36.3(98,451,358-159,119,486)x3,

9p24.3p13.1 (46,587-38,771,460)x1,

10q21.2q26(61,465,713-135,430,043)x1,

11p15.5p11.2 (203,788-47,430,599)x2hmz,

11p11.2(47,801,101-51,274,692)x1,

13q14.2q21.33 (50,283,115-69,338,113)cth,

14q23.2q32,12 (62,420,606-93,152,220)x1,

(16)x2hmz,

17p13.3p11.2(18,901-20,219,226)x2hmz,

17q25.3(79,894,097-81,047,565)x1,

18q23(76,324,504-78,014,582)x1,

19p13.3(267,039-1,569,839)x3,

(22)x2hmz

Chemotherapy

CRBN

3p26.3

normal

CRELD1

3p25.3

normal

VHL

3p25.3

normal

MSH6

normal

PPARG

3p25.1

normal

RAF1

3p25.1

normal

HESX1

3p14.3

normal

MLH1

normal

LFNG

7p22.2

del

FKBP9

7p14.3

normal

GLI3

7p14.1

normal

MSH3

normal

ADAM22

7q21.12

normal

TFR2

7q22.1

normal

KIAA1549

7q34

amp

PMS2

normal

HIPK2

7q34

amp

MKRN1

7q34

amp

BRAF

7q34

amp

MGMT

methylated (25 %)

DPP6

7q36.2

amp

MIR31

9p21.3

del

CDKN2A

9p21.3

del

MLH3

methylated

CDKN2B

9p21.3

del

IDH2

15q26.1

normal

  1. The pathogenetic findings for MLPA, MS-MLPA and I-FISH are marked with bold type. Abbreviation del means deleted, amp is amplificated. The SNP array results for each resection are notated according to the latest version of the International System of Human Cytogenetic Nomenclature (ISCN 2013) [17]. Aberrations unique to each resection are marked with bold text