Pros and cons for fluorescent  hybridization, karyotyping and next generation sequencing for diagnosis and follow-up of multiple myeloma

Sex-(years) Age	Pathogenic Variations		FISH Abnormalities	Cytogenetic Evaluation
M-70	NRAS: c.181C>A		normal	46,XY
F-74	NRAS: c.183A>T		CDKN2C; CKS1B×3; IgH/FGFR3+	–
M-41	normal		D13S25; 13qter; RB1×1; CKS1B×3; IgH/FGFR3+	46,XY
F-67	NRAS: c.181C>A		CKS1B; CCND1; P53; CEP17×3	46,XX
M-58	DNMT3A: c.2645G>A		normal	46,XY
M-74	normal		CKS1B×4	46,XY
M-61	SFTP353B1: : c.c.8181866G>G>A T	VUS CBLB: c.1472A>G	RB1; D13S25×1	46,XY
M-68	TNFRSF13B: c.310T>C		normal	–
F-71	TET2: c.3543_3544delCT		P53×1	46,XX
M-69	ATM: c.2250+2T>A		RB1; D13S25×1	46,XY
F-67	normal		CCND1×3; CKS1B×4	–
M-64	ASXL1: c.1141G>T	likely FLT3: pathogenic c.2678C>T	normal	46,XY
F-70		KRAS: c.183A>C	normal	–
F-76		TERT: c.2035T>G	normal	–
F-63		VUS AKAP13: c.7265G>A	normal	–
F-52		MYD88: c.815G>A	normal	–
F-66		CBLB: c.2434G>A	normal	46,XX
F-67		BLM: c.2237C>T	normal	46,XX
F-58		CBLBCSF3: Rc.: c.1927355A>G>G A	normal	46,XX
F-49		SF3A1: c.458T>C	normal	46,XX
M-84		SF3B1: c.422A>G	normal	–
M-50		ASXL1: c.143G>T	normal	46,XY
F-72		MPL: c.1481T>G	normal	46,XX

List of diseases and genes covered in the next generation sequencing analysis.

Disease	Genes Covered
Acute lymphoblastic leukemia (ALL)	ASXL2, ATM, BRAF, CALR, CDKN2A, CREBBP, CRLF2, CSF3R, CTCF, DNM2, EGFR, EP300, FBXW7, GATA2, HNRNPK, HRAS, IKZF3, IL7R, KDM6A, KDR, KMT2C, LRRC4, MAP2K1, MLH1, MSH2, MSH6, NOTCH1 NTRK3, PAX5, PDGFRA, PMS2, PRAMEF2, PTEN, RELN, SMARCB1
Acute myeloid leukemia (AML)	ANKRD26, ASXL1, ATM, BCOR, BCORL1, BIRC3, BRAF, C17orf97, CALR, CARD11, CBLC, CDKN2A, CEBPA, CHEK2, CREBBP, CSF1R, CSF3R, CTCF, DAXX, DDX41, DNM2, DNMT1, ELANE, EP300, FLRT2, FLT3, GATA1, GATA2, HNRNPK, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK3, KDM6A, KDR, KIT (CD117), KMT2A, KMT2C, KRAS, LRRC4, MAP2K1, MPL, MSH6, MYC, NBN, NOTCH1, NPM1, NRAS, NSD1, NTRK3, OR13H1, OR8B12, P2RY2, PCDHB1, PDGFRA, PHF6, PRAMEF2, PRPF8, PTEN, PTPN11, RAD21, RUNX1 (AML1), SF1, SF3A1, SMARCB1, SMC1A (SMC1L1), SMC3, SRP72, SRSF2, STAG2, STXBP2, U2AF1, U2AF2, WT1
Chronic lymphocytic leukemia (CLL)	ADA, BIRC3, BLM, BRAF, CALR, CHEK2, CSF3R, KCNA4, KLHL6, KMT2C, MAP2K1, NBN, NPAT, NTRK3, OR13H1, OR8B12, PRAMEF2, SRP72, TAL1, TERT, TUBA3C, WAS, WRN
Chronic myeloid leukemia (CML)	ABL1, CALR, CDKN2A, CEBPA, CREBBP, CSF1R, CSF3R, FBXW7, GATA2, KDM6A, MSH2, MSH6, RB1, SMC1A (SMC1L1), TP53
Chronic myelomonocytic leukemia (CMML)	CALR, CEBPA, CSF1R, CSF3R, HRAS, KMT2C, LUC7L2, SRSF2
Chronic neutrophilic leukemia (CNL)	CALR, CSF3R
Multiple myeloma (MM)	ATM, BCL6, BCR, BIRC3, BRAF, CDKN2A, CEBPA, EGFR, FBXW7, GJB3, HRAS, KDM6A, MYC, NOTCH1, PTEN, SH2D1A, SMARCB1
Myelodysplastic syndromes (MDS)	ATRX, CALR, CDKN2A, CEBPA, CSF1R, CSF3R, EP300, ETNK1, GNAS, HRAS, KDM6A, KMT2A, KMT2C, RAD21, RB1, SETBP1, SF1, SF3A1, SMC3, SRSF2, STAG2, U2AF1, U2AF2, XPO1, ZRSR2

Frequencies of genetic abnormalities in patients who were evaluated with conventional cytogenetic/ fluorescent in situ hybridization and next generation sequencing.

Cytogenetic Abnormalities	n (%)
No metaphase	10 (28.00)
Normal karyotype	25 (71.40)
FISH Abnormalities
–13/del(13q)	3 (8.57)
–17/del(17p)	2 (5.71)
t(11;14)(q13;q32)/IgH-CCND1	2 (5.71)
t(4;14)(p16;q32)/IgH-FGFR3	2 (5.71)
t(14;16)(p32;q23)/IgH-MAF	–
Chromosome 1 amplification (CKS1B/CDKNC gene)	4 (11.42)
NGS Results
Pathogenic variations	10 (28.57)
Likely pathogenic variations	3 (8.57)
Variants of unknown significance (VUS)	11 (31.42)

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Pros and cons for fluorescent in situ hybridization, karyotyping and next generation sequencing for diagnosis and follow-up of multiple myeloma

Article Category: Original Article

Pubblicato online: 23 mar 2021

Pagine: 59 - 64

DOI: https://doi.org/10.2478/bjmg-2020-0020

Parole chiaveCytogenetics, Fluorescent hybridization (FISH), Multiple myeloma, Next generation sequencing (NGS)

© 2020 Ikbal Atli E, Gurkan H, Onur Kirkizlar H, Atli E, Demir S, Yalcintepe S, Kalkan R, Demir AM, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Comparison of next generation sequencing and fluorescent in situ hybridization/karyotype results.

List of diseases and genes covered in the next generation sequencing analysis.

Frequencies of genetic abnormalities in patients who were evaluated with conventional cytogenetic/ fluorescent in situ hybridization and next generation sequencing.

Parole chiave
Cytogenetics, Fluorescent hybridization (FISH), Multiple myeloma, Next generation sequencing (NGS)