PROS AND CONS FOR FLUORESCENT IN SITU
HYBRIDIZATION, KARYOTYPING AND NEXT
GENERATION SEQUENCING FOR DIAGNOSIS AND
FOLLOW-UP OF MULTIPLE MYELOMA Ikbal Atli E, Gurkan H, Onur Kirkizlar H, Atli E, Demir S, Yalcintepe S, Kalkan R, Demir AM *Corresponding Author: Assistant Professor Emine Ikbal Atli, Department of Medical Genetics, Faculty
of Medicine, Trakya University, Balkan Campus, Highway D100, Edirne, Turkey 22030. Tel: +284-235-
76-41/23-30. Fax: +284-235-86-52. E-mail: eikbalatli@trakya.edu.tr page: 59
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RESULTS
Thirty-five patients with MM were studied. Conventional
cytogenetic analysis failed in 10 (28.0%) out
of 35 patients. Twenty-five (71.4%) out of the 35 MM
patients were reported to have a normal karyotype. In order
to identify trisomies/monosomies, del13 and 17p13.1,
and trans-locations involving the immunoglobulin heavy
chain locus (IgH) and immunoglobulin λ-light chain locus
(IgL-λ), FISH was performed. Abnormal FISH results
were revealed in eight (22.8%) out of 35 cases (Table 2).
In our series, 18 patients were female and 17 were
male (sex ratio 1:1). The ages of patients ranged from 35
to 84 years at diagnosis, with a median age of 65. The
frequency of molecular cytogenetic abnormalities and molecular
variations in patients with abnormal FISH/NGS
results are summarized in Table 3.
Next generation sequencing analysis was applied to
all cases and pathogenic or likely pathogenic variations
were detected in six out of the 25 cytogenetically normal
cases. Additionally, a pathological variant was identified
in five out of eight cases who had abnormal FISH results.
Variants of unknown significance (VUS) were identified
in 10 cases and the sex ratio was detected as 1.3 (F:M,
13/10) in all of the abnormal cases.
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