J Hematol

Journal of Hematology, ISSN 1927-1212 print, 1927-1220 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Hematol and Elmer Press Inc

Journal website https://www.thejh.org

Original Article

Volume 11, Number 3, June 2022, pages 87-91

Conventional Karyotyping and Fluorescence In Situ Hybridization for Detection of Chromosomal Abnormalities in Multiple Myeloma

**Table 1.** Demographics
ISS: International Staging System; R-ISS: revised International Staging System.
Number of patients meeting inclusion criteria	70
Minimum age	42
Maximum age	85
Median age	62
Male	59% (41/70)
Female	41% (29/70)
ISS	1: 33% (23/70), 2: 34% (24/70), 3: 9% (6/70), unavailable: 24% (17/70)
R-ISS	1: 39% (20/70), 2: 39% (27/70), 3: 9% (6/70), unavailable: 24% (17/70)

Table 1. Demographics

ISS: International Staging System; R-ISS: revised International Staging System.

Number of patients meeting inclusion criteria

Minimum age

Maximum age

Median age

Male

59% (41/70)

Female

41% (29/70)

ISS

1: 33% (23/70), 2: 34% (24/70), 3: 9% (6/70), unavailable: 24% (17/70)

R-ISS

1: 39% (20/70), 2: 39% (27/70), 3: 9% (6/70), unavailable: 24% (17/70)

**Table 2.** Summary of Karyotype and FISH Findings
FISH: fluorescence in situ hybridization.
Abnormal karyotype
Total	27% (19/70)
With abnormal FISH	95% (18/19)
With normal FISH	5% (1/19)
Normal karyotype
Total	71% (50/70)
With abnormal FISH	94% (47/50)
With normal FISH	6% (3/50)
Inadequate karyotype
Total	1% (1/70)
With abnormal FISH	100% (1/1)
With normal FISH	0% (0/1)
Abnormal FISH
Total	94% (66/70)
With abnormal karyotype	27% (18/66)
With normal karyotype	71% (47/66)
With inadequate karyotype	2% (1/66)
Normal FISH
Total	6% (4/70)
With abnormal karyotype	25% (1/4)
With normal karyotype	75% (3/4)

Table 2. Summary of Karyotype and FISH Findings

FISH: fluorescence in situ hybridization.

Abnormal karyotype

Total

27% (19/70)

With abnormal FISH

95% (18/19)

With normal FISH

5% (1/19)

Normal karyotype

Total

71% (50/70)

With abnormal FISH

94% (47/50)

With normal FISH

6% (3/50)

Inadequate karyotype

Total

1% (1/70)

With abnormal FISH

100% (1/1)

With normal FISH

0% (0/1)

Abnormal FISH

Total

94% (66/70)

With abnormal karyotype

27% (18/66)

With normal karyotype

71% (47/66)

With inadequate karyotype

2% (1/66)

Normal FISH

Total

6% (4/70)

With abnormal karyotype

25% (1/4)

With normal karyotype

75% (3/4)

**Table 3.** Frequency of Detection of Numerical and Structural Abnormalities
FISH: fluorescence in situ hybridization.
Numerical abnormalities	81% (57/70)
Numerical abnormalities and detected by FISH	95% (54/57)
Missed by karyotyping	70% (38/54)
Numerical abnormalities and detected by karyotype	33% (19/57)
Missed by FISH	16% (3/19)
Structural abnormalities	89% (62/70)
Structural abnormalities and detected by FISH	98% (61/62)
Missed by karyotyping	74% (45/61)
Structural abnormalities and detected by karyotype	27% (17/62)
Missed by FISH	6% (1/17)

Table 3. Frequency of Detection of Numerical and Structural Abnormalities

FISH: fluorescence in situ hybridization.

Numerical abnormalities

81% (57/70)

Numerical abnormalities and detected by FISH

95% (54/57)

Missed by karyotyping

70% (38/54)

Numerical abnormalities and detected by karyotype

33% (19/57)

Missed by FISH

16% (3/19)

Structural abnormalities

89% (62/70)

Structural abnormalities and detected by FISH

98% (61/62)

Missed by karyotyping

74% (45/61)

Structural abnormalities and detected by karyotype

27% (17/62)

Missed by FISH

6% (1/17)

**Table 4.** Types of Abnormalities Detected by Karyotype or FISH and Their Frequencies
FISH: fluorescence in situ hybridization.
Chromosome 14	76% (53/70); IGH rearrangements: 47% (33/70), t(11;14): 11% (8/70), t(4;14): 9% (6/70), t(14;16): 1% (1/70)
Chromosome 13	56% (39/70); monosomy 13: 40% (28/70)
Chromosome 11	50% (35/70); gain 11: 34% (24/70)
Chromosome 9	44% (31/70); gain 9: 44% (31/70)
Chromosome 15	41% (29/70); gain 15: 40% (28/70)
Chromosome 5	37% (26/70); gain 5: 36% (25/70)
Chromosome 17	27% (19/70); gain 17: 16% (11/70)
Chromosome 1	23% (16/70); gain 1q: 14% (10/70)
Chromosome 4	14% (10/70); t(4;14): 9% (6/70)

Table 4. Types of Abnormalities Detected by Karyotype or FISH and Their Frequencies

FISH: fluorescence in situ hybridization.

Chromosome 14

76% (53/70); IGH rearrangements: 47% (33/70), t(11;14): 11% (8/70), t(4;14): 9% (6/70), t(14;16): 1% (1/70)

Chromosome 13

56% (39/70); monosomy 13: 40% (28/70)

Chromosome 11

50% (35/70); gain 11: 34% (24/70)

Chromosome 9

44% (31/70); gain 9: 44% (31/70)

Chromosome 15

41% (29/70); gain 15: 40% (28/70)

Chromosome 5

37% (26/70); gain 5: 36% (25/70)

Chromosome 17

27% (19/70); gain 17: 16% (11/70)

Chromosome 1

23% (16/70); gain 1q: 14% (10/70)

Chromosome 4

14% (10/70); t(4;14): 9% (6/70)