Table 1 CNAs and mutations detected in... | American Society of Hematology

Table 1

CNAs and mutations detected in clonal PCs from patients with newly-diagnosed AL amyloidosis

	Most frequent alteration	2nd most frequent alteration	3rd most frequent alteration	Less frequent alterations
Chromosomal imbalances
Gains	+9*	+19*	+5*	+3, +6, +7, +11
Losses	−X	−16	—	−12, −14
Chromosomal arms
Gains	+15q	+1q	—	+8q, +9p, +11q
Losses	−Yp	−13q	−22q	−1p, −6q, 12q, −16q
Mutations†	XKR8‡			AHNAK, ALKBH4, AP3B2, ASCC3, ASIC4, BIRC6, BSN, BTBD17, C14orf39, C22orf39, C4orf3, CACNA1I, CATSPERD, CCDC17, CCDC39, CELSR1, CPXCR1, CSF3R, CTNNAL1, CTNND2, DCAF12L2, DIS3, DNAH5, DNAH9, DSEL, EML6, ENO4, FAM208A, FBXL21, FBXO15, FKBP3, FYCO1, GEMIN2, GFRAL, HECW1, HIST1H3D, HIST1H3H, HPN, IKZF1, ITSN1, KANSL1L, KCNT1, KRAS, KRT28, LAMA3, LMX1A, LYG1, MIA2, PTCD2, MYO18B, NAALAD2, NBEAL1, NBR1, NFIB, OCA2, ORC4, PCLO, PDE8B, PKD1, PLCB4, PRKD2, PRPF4B, PSCA, PVRL3, QPCT, RAD51D, RAPGEF4, RBP3, RETN, RGS7BP, RPL19, SALL2, SERPINA5, SFMBT2, SI, SLX4, SPATA31D1, SPOCK1, SPTAN1, STPG2, SWSAP1, TMEM200B, TRADD, TTLL4, TTN, TTR, TXNRD3, USP54, XKR8,, YTHDF2, ZFYVE1, ZNF519, ZNF729

	Most frequent alteration	2nd most frequent alteration	3rd most frequent alteration	Less frequent alterations
Chromosomal imbalances
Gains	+9*	+19*	+5*	+3, +6, +7, +11
Losses	−X	−16	—	−12, −14
Chromosomal arms
Gains	+15q	+1q	—	+8q, +9p, +11q
Losses	−Yp	−13q	−22q	−1p, −6q, 12q, −16q
Mutations†	XKR8‡			AHNAK, ALKBH4, AP3B2, ASCC3, ASIC4, BIRC6, BSN, BTBD17, C14orf39, C22orf39, C4orf3, CACNA1I, CATSPERD, CCDC17, CCDC39, CELSR1, CPXCR1, CSF3R, CTNNAL1, CTNND2, DCAF12L2, DIS3, DNAH5, DNAH9, DSEL, EML6, ENO4, FAM208A, FBXL21, FBXO15, FKBP3, FYCO1, GEMIN2, GFRAL, HECW1, HIST1H3D, HIST1H3H, HPN, IKZF1, ITSN1, KANSL1L, KCNT1, KRAS, KRT28, LAMA3, LMX1A, LYG1, MIA2, PTCD2, MYO18B, NAALAD2, NBEAL1, NBR1, NFIB, OCA2, ORC4, PCLO, PDE8B, PKD1, PLCB4, PRKD2, PRPF4B, PSCA, PVRL3, QPCT, RAD51D, RAPGEF4, RBP3, RETN, RGS7BP, RPL19, SALL2, SERPINA5, SFMBT2, SI, SLX4, SPATA31D1, SPOCK1, SPTAN1, STPG2, SWSAP1, TMEM200B, TRADD, TTLL4, TTN, TTR, TXNRD3, USP54, XKR8,, YTHDF2, ZFYVE1, ZNF519, ZNF729

Interstitial CNAs are detailed in supplemental Table 1.

All 3 chromosomal gains were detected in 3 of 11 patients with AL.

None of each SNV was simultaneously found in ≥2 patients.

Two different SNVs found in the same gene (c.445G>A and c.86C>T).