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Table 2 Summary of chromosome 7/BRAF genetic status by SNP array and FISH analyses in melanomas

From: Variations of BRAF mutant allele percentage in melanomas

Samples

Tumor polyploidy1

BRAF Chromosome 7q34

FISH2

Amount of mutated allele by pyrosequencing

% of tumor cell

V600 status

Chromosome 7 rearrangements3

Copy number

Allele disequilibrium

B243039

Diploid

2

AB

2

2

90

WT

7pA/7qAB

B227278

Diploid

2

AB

2

2

90

WT

7pter-7q35 AB/7q35-qter A

B231355

Poly 3

2

AA

3

3

80

WT

7pter-7p21.3 AAB/7p21.3 AAB/7p21.3-p15.2AAABB/7p15.2-14.3 AAB/7q11.1-q11.2AAABBa/7q11.2-q11.3 AABa/7q11.3-q21.11AAABBa/7q21.11-q31.1 AABa/7q31.1-7qter AAa

B228256

Poly 3

3

AAB

3

3

90

WT

Non

B210964

Diploid

3

AAB

4A

3

80

WT

7pAABB/7qAAB/7qAA/7qAAB 7q complex rearrangements

B233522

Diploid

2

AB

2

4

90

WT

Non

B202779

Diploid

2

AB

NR

4

90

WT

Non

B232220

Diploid

2

AB

3

5

90

WT

Non

B236394

Diploid

2

AB

NR

5,5

90

WT

Non

B233492

Diploid

2

AB

3

35,5

90

V600E

Non

B235230

Diploid

3

AAB

3

43

80

V600E

Non

B239110

Poly 3

4

AABB

NR

45

90

V600E

Non

B230177

Diploid

2

AB

3

46

90

V600E

Non

B226709

Poly 3

4/5

AABB/AAABBa

4B

48

90

V600E

7pter - 7q11.2 AAB/7q11.2-q35 AAABB/q35-qter

AABB

B230962

Poly 3

5

AAABB

4B

50

80

V600E

7pter-7q11.22 AABB/7q11.22-7qter AAABB

B236134

Poly 3

4/5

AABB/AAABBa

4A

51,5

90

V600E

7pter-7p21.1 AABB/7p21.1-p12.1 AAB/7p21.1-7q31.1

AABB/7q31.1-qter AABB/AAABBa

B227502

Diploid

3

AAB

NR

55,5

80

V600E

7p-7q22.3 AB/7q22.3-qter AAB

B217182

Poly 3

3

AAB

4A

61

80

V600E

Non

B230859

Poly 3

5

AAABB

3

68,5

80

V600E

7pter-p21.1 AAB/7p21.1-7p11.1 AB/7qAAABB

B231121

Poly 3

3

AAB

3

74,5

90

V600E

7pter-7q13 AB/7p13-7qter AAB

B230002

Diploid

3

AAA

4A

NA

90

V600K

7pter-7q21.1 AA/7q21.1-q34 AAA/7q34-qterAA

B223249

Diploid

4

AAAA

NI

NA

80

V600K

7pAB/7qAAA

  1. 1Tumor ploidy level was estimated by copy number analysis of SNP data
  2. 2BRAF/chromosome 7 centromere interpretation of FISH analysis: 2 – cells with two copies of chromosome 7; 3 – cells with two copies of chromosome 7 but rare cells showing an increased number of chromosome 7; 4 – cells with chromosome 7 gains, (A) chromosome 7 in 3 or 4 copies, (B) chromosome 7 in more than 4 copies, NI – not interpretable
  3. 3Chromosome 7 genetic status presents as disequilibrium of alleles A and B (SNP analysis).
  4. NA - not available, WT – wild-type,a - clonal aberration