Zentrum für Humangenetik und Laboratoriumsmedizin, Dr. Klein, Dr. Rost und Kollegen

NGS Aberrationsscreening

Dipl.-Ing. (FH) Tanja Hinrichsen, Oliver Wachter

Wissenschaftlicher Hintergrund

Mit dem NGS-Aberrationsscreening können parallel unterschiedliche Translokationen bzw. chromosomale Rearrangements, die spezifisch für bestimmte Tumorerkrankungen bzw. Leukämie-Subgruppen sind, qualitativ nachgewiesen werden. Dabei besteht die Möglichkeit, Translokationen über indikationsspezifische NGS-Translokationspanels nachzuweisen. Für eine Detektion muss keine Kenntnis des Translokationspartners vorhanden sein. Somit ist es möglich auch unbekannte Translokationen zu detektieren bzw. nachzuweisen.

AML Translokationen [C92.0, C92.4, C92.5, C92.6, C92.8, C93.0, C94.4, C94.2]

BCOR-RARA, BCR-JAK2, CBFA2T3-GLIS2, CBFB-MYH11, CCDC88C-PDGFRB, CHIC2-ETV6, DEK-NUP214, DHH-RHEBL1, ETV6-NCOA2, ETV6-NTRK3, ETV6-PDGFRB, ETV6-PTPRR, ETV6-RUNX1, FIP1L1-PDGFRA, FIP1L1-RARA, FUS-ERG, KAT6A-CREBBP, KAT6A-EP300, KAT6A-NCOA2, KMT2A-ABI1, KMT2A-ARHGAP26, KMT2A-ARHGEF12, KMT2A-CASC5, KMT2A-CBL, KMT2A-CEP170B, KMT2A-CREBBP, KMT2A-ELL, KMT2A-EP300, KMT2A-EPS15, KMT2A-FNBP1, KMT2A-FOXO4, KMT2A-FRYL, KMT2A-GAS7, KMT2A-GPHN, KMT2A-MAML2, KMT2A-MLLT1, KMT2A-MLLT10, KMT2A-MLLT11, KMT2A-MLLT3, KMT2A-MLLT4, KMT2A-MLLT6, KMT2A-MYO1F, KMT2A-SEPT2, KMT2A-SEPT5, KMT2A-SEPT6, KMT2A-SEPT9, KMT2A-TET1, MN1-ETV6, MNX1-ETV6, MYB-GATA1, NPM1-MLF1, NPM1-RARA, NUMA1-RARA, NUP98-DDX10, NUP98-HOXA9, NUP98-HOXD13, NUP98-KDM5A, NUP98-LNP1, NUP98-NSD1, NUP98-PHF23, NUP98-PRRX1, NUP98-PSIP1, NUP98-TOP1, NUP98-WHSC1L1, PCM1-JAK2, PICALM-MLLT10, PML-RARA, RANBP2-ALK, RBM15-MKL1, RPN1-MECOM, RUNX1-CBFA2T3, RUNX1-MECOM, RUNX1-PRDM16, RUNX1-RPL22, RUNX1-RUNX1T1, RUNX1-USP42, SET-NUP214, STAT5B-RARA, TAF15-ZNF384, TRIP11-PDGFRB, ZBTB16-RARA

ALL Translokationen [C91.0]

BCR-ABL1, BCR-JAK2, EML1-ABL1, ETV6-ABL2, ETV6-JAK2, ETV6-NCOA2, ETV6-RUNX1, EWSR1-ZNF384, FGFR1OP-FGFR1, JAK2-PAX5, KMT2A-ACTN4, KMT2A-AFF1, KMT2A-AFF3, KMT2A-CASC5, KMT2A-EPS15, KMT2A-FOXO4, KMT2A-FRYL, KMT2A-GAS7, KMT2A-GPHN, KMT2A-MLLT1, KMT2A-MLLT10, KMT2A-MLLT3, KMT2A-MLLT4, KMT2A-TET1, MNX1-ETV6, NUP214-ABL1, NUP98-LNP1, NUP98-RAP1GDS1, P2RY8-CRLF2, PAX5-AUTS2, PAX5-ELN, PAX5-ETV6, PAX5-FOXP1, PAX5-JAK2, PAX5-PML, PCM1-JAK2, PICALM-MLLT10, RCSD1-ABL1, SET-NUP214, SFPQ-ABL1, STIL-TAL1, TAF15-ZNF384, TCF3-HLF, TCF3-PBX1, ZMIZ1-ABL1

Myeloproliferative Neoplasien (MPN) [C94.0, C94.6]

BCR-FGFR1, BCR-JAK2, BCR-PDGFRA, CNTRL-FGFR1, ETV6-ABL1, ETV6-FLT3, ETV6-JAK2, ETV6-MECOM, ETV6-PDGFRB, FGFR1OP-FGFR1, FIP1L1-RARA, MN1-ETV6, NPM1-MLF1, NUP98-HOXA9, NUP98-HOXD13, NUP98-PSIP1, PRKG2-PDGFRB, RUNX1-MECOM

Myelodysplastische Syndrome (MDS) [C94.0, C94.6]

DEK-NUP214, ETV6-GOT1, ETV6-JAK2, ETV6-PTPRR, KMT2A-ACTN4, KMT2A-CASC5, KMT2A-FRYL, KMT2A-MAML2, MN1-ETV6, MNX1-ETV6, NDE1-PDGFRB, NPM1-MLF1, NUP98-HOXD13, NUP98-LNP1, NUP98-TOP1, PCM1-JAK2, RUNX1-MECOM, RUNX1-PRDM16, ZMYM2-FGFR1

Lymphome [C84, C82, C83, C84, C85, C86, C88]

ALK-MSN, ATIC-ALK, BIRC3-MALT1, CLTC-ALK, ETV6-FGFR3, MSN-ALK, NPM1-ALK, SQSTM1-ALK, TFG-ALK, TPM3-ALK, TPM4-ALK

Leberkarzinom [C22]

FGFR2-CCDC6, FGFR2-TACC3

Lungenkarzinom [C34]

CCDC6-RET, CD74-NRG1, CD74-NTRK1, CD74-ROS1, CRTC1-MAML2, CUX1-RET, EML4-ALK, EZR-ROS1, FGFR3-TACC3, GOPC-ROS1, KIF5B-ALK, KIF5B-RET, KLC1-ALK, LRIG3-ROS1, MPRIP-NTRK1, NCOA4-RET, SDC4-ROS1, SLC34A2-ROS1, SND1-BRAF, STRN-ALK, TFG-ALK, TPM3-ROS1, TRIM33-RET

Non-Small Cell Lung Cancer (NSCLC) [C34]

BAG4-FGFR1, CCDC6-RET, CD74-NRG1, CD74-ROS1, EML4-ALK, EZR-ROS1, GOPC-ROS1, HIP1-ALK, KIF5B-ALK, KIF5B-RET, KLC1-ALK, LRIG3-ROS1, SDC4-ROS1, SLC34A2-ROS1, STRN-ALK, TFG-ALK, TPM3-ROS1, TPR-ALK, TRIM33-RET

Pankreaskarzinom [C25]

EWSR1-FLI1, GATM-BRAF, HACL1-RAF1, HERPUD1-BRAF, SND1-BRAF, ZSCAN30-BRAF

Prostatakarzinom [C61]

ESRP1-RAF1, RAF1-ESRP1, SLC45A3-BRAF, SND1-BRAF, TMPRSS2-ERG, UBE2L3-KRAS

Sarkom [C41, C45, C46]

ASPSCR1-TFE3, COL1A1-PDGFB, ETV6-NTRK3, EWSR1-DDIT3, EWSR1-WT1, FUS-DDIT3, LMNA-NTRK1, NPM1-ALK, PAX3-FOXO1, PAX7-FOXO1, SS18-SSX1, SS18-SSX2

Weichteilsarkom [C49]

ASPSCR1-TFE3, ATIC-ALK, CARS-ALK, CLTC-ALK, COL1A1-PDGFB, DCTN1-ALK, ETV6-NTRK3, EWSR1-ATF1, EWSR1-CREB1, EWSR1-DDIT3, EWSR1-ERG, EWSR1-ETV1, EWSR1-ETV4, EWSR1-FEV, EWSR1-FLI1, EWSR1-WT1, FN1-ALK, FUS-DDIT3, NCOA4-RET, PAX3-FOXO1, PAX7-FOXO1, PPFIBP1-ALK, RANBP2-ALK, SEC31A-ALK, SS18-SSX1, SS18-SSX2, TPM3-ALK, TPM4-ALK

Schilddrüsenkarzinom [C73]

AKAP9-BRAF, CCDC6-RET, CRTC1-MAML2, EML4-ALK, ERC1-RET, ETV6-NTRK3, GOLGA5-RET, HOOK3-RET, NCOA4-RET, NTRK1-TFG, NTRK1-TPM3, PAX8-PPARG, PCM1-RET, PRKAR1A-RET, RET-GOLGA5, STRN-ALK, TFG-NTRK1, TPM3-NTRK1, TRIM24-RET, TRIM27-RET, TRIM33-RET

Blasenkarzinom [C67]

FGFR3-BAIAP2L1, FGFR3-TACC3

Speicheldrüsenkarzinom

CRTC1-MAML2, ETV6-NTRK3, FGFR1-PLAG1