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Table 1 I-FISH, MLPA and SNP array findings for three lesions of case no. 1

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

  MLPA MS-MLPA I-FISH result SNP array result Treatment
Gene Location Result Gene Result    
First resection - geminocystal astrocytoma IDH1 2q33.3 R132H MSH2 normal deletion of 19q amplification of 13q 3p26.3p11.1(4,367,515-90,526,515)x1, 3q28q29(195,706,944-195,724,476)x1, 7p22.3p14.1(141,332-43,215,151)x2hmz, 12q12qq22(40,031,350-93,333,050)x1, 12q23.1q23.2(109,796,312-111,857,062)x1, 13q14.3(51,016,936-54,208,554)x1, 13q21.33q34(68,955,942-115,106,996)x3, 19q13.2q13.43(41,004,075-58,610,254)x1 NO
CRBN 3p26.3 del
CRELD1 3p25.3 del
VHL 3p25.3 del MSH6 normal
PPARG 3p25.1 del
RAF1 3p25.1 del
HESX1 3p14.3 del MLH1 normal
LFNG 7p22.2 normal
FKBP9 7p14.3 normal
GLI3 7p14.1 normal MSH3 normal
ADAM22 7q21.12 normal
TFR2 7q22.1 normal
KIAA1549 7q34 normal PMS2 normal
HIPK2 7q34 normal
MKRN1 7q34 normal
BRAF 7q34 normal MGMT normal
DPP6 7q36.2 normal
MIR31 9p21.3 normal
CDKN2A 9p21.3 normal MLH3 normal
CDKN2B 9p21.3 normal
IDH2 15q26.1 normal
Second resection - diffuse astrocytoma IDH1 2q33.3 R132H MSH2 normal deletion of 19q amplification of 13q 3p26.3p11.1(4,367,515-90,526,515)x1, 3q28q29(195,706,944-195,724,476)x1, 7p22.3p14.1(141,332-43,215,151) x2hmz, 9q34.11q34.3(131,306,847-138,275,572)x3, 10p15.3(135,708-1,639,362)x3, 12q12qq22(40,031,350-93,333,050)x1, 12q23.1q23.2(109,796,312-111,857,062)x1, 13q14.3(51,016,936-54,208,554)x1, 13q21.2q21.3 (61,757,866-62,558,596)x3, 13q21.31(62,603,583-62,702,893)x1, 13q21.31q21.33 (63,341,681-70,114,200)x1, 13q21.33q34 (68,955,942-115,106,996)x3, 19q13.2q13.43(41,004,075-58,610,254)x1 NO
CRBN 3p26.3 del
CRELD1 3p25.3 del
VHL 3p25.3 del MSH6 normal
PPARG 3p25.1 del
RAF1 3p25.1 del
HESX1 3p14.3 del MLH1 normal
LFNG 7p22.2 normal
FKBP9 7p14.3 normal
GLI3 7p14.1 normal MSH3 normal
ADAM22 7q21.12 normal
TFR2 7q22.1 normal
KIAA1549 7q34 normal PMS2 normal
HIPK2 7q34 normal
MKRN1 7q34 normal
BRAF 7q34 normal MGMT methylated (51 %)
DPP6 7q36.2 normal
MIR31 9p21.3 normal
CDKN2A 9p21.3 normal MLH3 normal
CDKN2B 9p21.3 normal
IDH2 15q26.1 normal
Third resection - anaplastic astrocytoma IDH1 2q33.3 R132H MSH2 normal deletion of 19q amplification of 13q trisomy 7 3p26.3p11.1(4,367,515-90,526,515)x1, 3q28q29(195,706,944-195,724,476)x1, 7p22.3p14.1(141,332-43,215,151) x2hmz, 8q11.1q22.3 (48,043,253-106,052,343)x1, 9q34.11q34.3(131,306,847-138,275,572)x3, 10p15.3 (135,708-1,639,362)x3, 10q22.3q23.1(81,643,451-84,775,286)x1, 12q12qq22 (40,031,350-93,333,050)x1, 12q23.1q23.2(109,796,312-111,857,062)x1, 13q14.3 (51,016,936-54,208,554)x1, 13q21.2q21.3 (61,757,866-62,558,596)x3, 13q21.31 (62,603,583-62,702,893)x1, 13q21.31q21.33(63,341,681-70,114,200)x1, 13q21.33q34(68,955,942-115,106,996)x3, 19q13.2q13.43(41,004,075-58,610,254)x1 Chemotherapy
CRBN 3p26.3 del
CRELD1 3p25.3 del
VHL 3p25.3 del MSH6 normal
PPARG 3p25.1 del
RAF1 3p25.1 del
HESX1 3p14.3 del MLH1 normal
LFNG 7p22.2 normal
FKBP9 7p14.3 normal
GLI3 7p14.1 normal MSH3 normal
ADAM22 7q21.12 normal
TFR2 7q22.1 normal
KIAA1549 7q34 normal PMS2 normal
HIPK2 7q34 normal
MKRN1 7q34 normal
BRAF 7q34 normal MGMT methylated (51 %)
DPP6 7q36.2 normal
MIR31 9p21.3 normal
CDKN2A 9p21.3 normal MLH3 normal
CDKN2B 9p21.3 normal
IDH2 15q26.1 normal
  1. The pathogenetic findings for MLPA, MS-MLPA are marked with bold type. Abbreviation del means deleted. 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]. Findings described for first resection were found in all following samples therefore additional changes detected only in subsequent lesions are marked with bold type