Molekularpathologische Untersuchungen

Überblick über molekularpathologische Untersuchungen
an Pathologieinstituten in Österreich

Zahlreiche moderne zielgerichtete Therapien in der Onkologie benötigen den Nachweis einer spezifischen Veränderung im Tumorgewebe und eine exakte Tumortypisierung, welche zeigen ob die Therapie wirken kann oder nicht.

Darüber hinaus sind molekularpathologische Untersuchungen bei der klinischen Diagnostik von metabolischen, infektiösen und pränatalen Erkrankungen unabdingbare Hilfsmittel.

Hier finden Sie eine Auflistung der häufigsten molekulargenetischen bzw. molekularpathologischen Untersuchungen, welche an Pathologieinstituten in Österreich durchgeführt werden.
(Stand: Oktober 2008)

Lymphomas

Analysis: B-/T-Cell Clonality Assesment	Method
Immunoglobulin light chain restriction (Kappa/Lambda)	ISH
Immunoglobulin gene rearrangement (IgH)	PCR / Frag. analysis
T-cell receptor gene rarrangement (TcRg)	PCR / Frag. analysis
T-cell receptor gene rarrangement (TcRb)	PCR / Frag. analysis

Analysis: Translocations	Method
t(14;18); follicular lymphoma	PCR / LD-PCR
t(14;18); follicular lymphoma	FISH
bcl-2 (break-apart)	CISH
bcl-2 (break-apart)
t(11;14); mantle cell lymphoma	PCR
t(11;14); mantle cell lymphoma	FISH
t(8;14); Burkitt lymphoma	FISH
t(8;?) MYC (break-apart); Burkitt lymphoma	FISH, CISH
t(14;?) IgH (break-apart)	FISH
t(11;18) MALT lymphoma	RT-PCR
t(11;18) / MALT1 t(18;break-apart); MALT lymphoma	FISH
NMP/ALK	PCR
BCL1/IgH	PCR
Plasma cell myeloma, 13q and 17p deletions	ISH
t(4;14) plasmacytoma	FISH
del 13q plasmacytoma	FISH
t(4;14) multiple myeloma (FGF-R3)	FISH

Analysis: Others	Method
Kinase 2 (Ipsogen Mutaquant Realtime PCR-Kit)	PCR

Haematological Neoplasias

Analysis:	Method:
t(8;21); AML, M2	FISH
t(8;21); AML, M2	PCR
t(8;21) AML/ETO	QRT-PCR
t(15;17); AML, M3	FISH
t(15;17); AML, M3	PCR
t(15;17) PML/RARA	QRT-PCR
inv.(16); AML, M4Eo	PCR
inv(16) CBF/MYH11	RT-PCR
inv(16) CBF/MYH11	QRT-PCR
t(9;22);CML	FISH
t(9;22); CML	PCR
t(9;22) BCR/ABL	QRT-PCR
p53; del(17p13.1)	FISH
del(13q14.3)	FISH
del(11q22.3)	FISH
12p11.1-q11(CEP12)	FISH
8p11.1-q11 (CEP8)	FISH
5q31.1-3	FISH
5q33-q34	FISH
7q31.1-3	FISH
11p11.1-q11	FISH
bcr-abl transcripts	qRT-PCR
JAK-2 mutation analysis	DHPLC
Jak2 V617F mutation	Q-PCR
PML-RARa	RT-PCR
Hemavision - translocation analysis	RT-PCR
c-kit Mutation (Exon 17)	DHPLC
Chimerism analysis (KMT)	PCR
t(X;11) MLL/AFX	RT-PCR
TAL1D SIL/TAL	RT-PCR
t(1;11) MLL/AF1q	RT-PCR
t(1;11) MLL/AF1p	RT-PCR
t(1;19) E2A/PBX1	RT-PCR
t(2;5) NPM/ALK	RT-PCR
t(3;5) NPM/MLF1	RT-PCR
t(3;21) AML1/MDS1	RT-PCR
t(4;11) MLL/AF4	RT-PCR
t(5;12) TEL/PDGFR	RT-PCR
t(5;17) NPM(S)/RAR	RT-PCR
t(6;9) DEK/CAN	RT-PCR
t(6;11) MLL/AF6	RT-PCR
t(8;21) AML/ETO	RT-PCR
t(8;21) AML/ETO	QRT-PCR
t(9;9) SET/CAN	RT-PCR
t(9;11) MLL/AF9	RT-PCR
t(9;12) TEL/ABL	RT-PCR
t(9;22) BCR/ABL	RT-PCR
t(10;11) MLL/AF10	RT-PCR
duppMLL MLL/MLL	RT-PCR
t(11;17) PLZF/RAR	RT-PCR
t(11;17) MLL/AF17	RT-PCR
t(11;19) MLL/ELL	RT-PCR
t(11;19) MLL/ENL	RT-PCR
t(12;21) TEL/AML1	RT-PCR
t(15;17) PML/RARA	RT-PCR
t(15;17) PML/RARA	QRT-PCR
inv(16) CBF/MYH11	RT-PCR
inv(16) CBF/MYH11	QRT-PCR
t(16;21) TLS/ERG	RT-PCR
t(17;19) E2A/HLF	RT-PCR
Flt3 internal tandem duplication	PCR
NPM1 exon 12 mutation	Q-PCR
KIT D816 mutation	Q-PCR
wt1 quantification	QRT-PCR
BAALC quantification	QRT-PCR
ERG quantification	QRT-PCR

Other (Leukaemias)

Analysis:	Method:
BCR/ABL	FISH
t(2;?) AL (break-apart)	FISH
CLL panel	FISH
t(15;17((PML/RARA)	FISH
t(3;?) BLC6 (break-apart)	FISH
MLL (11q23)	FISH
MYB (6q23)	FISH
CEP 8	FISH

Soft tissue tumors

Analysis:	Method:
t(X;18) synovial sarcoma	RT-PCR
FKHR (break-apart) alveolar rhabdomyosarcoma	FISH
EWSR1 (break-apart); Ewing sarcoma	FISH
SYT (break-apart) synovial sarcoma	FISH
CHOP (break-apart) / FUS (break-apart) myxoid liposarcoma	FISH
MDM2 amplification	FISH
CDK4 amplification	FISH

Other tumors

Analysis: Aneusomy / amplifications / deletions / allelic imbalance	Method:
Her-2 amplification; breast carcinoma	FISH, CISH, SISH
Topoisomerase 2a amplification; breast carcinoma	FISH
EGFR amplification	FISH
MYCN amplification; neuroblastoma	FISH
Deletion 9p21; mesothelioma	FISH
Aneusomy 3, 7, 17, 9p21; bladder cancer	FISH (Urovysion)
Aneusomy 6, 5p15, 7p12, 8q24; lung cancer	FISH (LAVysion)
LOH; p53 / CEP 17	FISH
LOH 1p/19q; glioma	FISH
LOH Chromosome 18q; colorectal cancer (9 microsatellites)	PCR / Frag. analysis
Microsatellite-instability (5-7 microsatellites); colorectal cancer	PCR / Frag. analysis
B-RAF Mutation (V600E)	DHPLC, Sequencing

Mutation analysis:	Method:
p53 (Exons 5-8)	PCR / Sequencing
KRAS	PCR / Sequencing
PDGFRa (Exons 10, 12, 18); GIST	PCR / Sequencing
PDGFRb; mastocytosis	PCR / Sequencing
EGFR (Exons 18-21)	PCR / Sequencing
c-KIT (Exons 9,11,13); GIST	PCR / Sequencing
VHL (3 Exons); renal carcinoma	PCR / Sequencing
GNAS1 (Exon 8; Codon 201); fibrous dysplasia	PCR / Sequencing
RET (Exons 8, 10, 11, 13-16); neuroendocrine tumors	PCR / DGGE / Seq
MEN1 (Exons 2-10); neuroendocrine tumors	PCR / DGGE / Seq
SDHB/SDHC/SDHD (all Exons); neuroendocrine tumors	PCR / DGGE / Seq
B-Raf (PTC) Codon 600	PCR/ Sequencing

Infectious diseases

Analysis: Viruses	Method:
Cytomegalovirus	ISH
Cytomegalovirus	PCR
Epstein-Barr Virus (EBER)	ISH
Epstein-Barr Virus	PCR
Enteroviruses	PCR
Hepatitis A Virus	PRC
Hepatitis B und Hepatitis B pre-core mutant	PCR
Hepatitis B-DNA quantitative	PCR
Hepatitis C Virus	PCR
Hepatitis C-RNA qualitative	PCR
HCV genotyping	PRC/dot-blot
HCV quantitative	PRC
HHV-1 & 2 Herpes Simplex Virus	PCR
Herpes Simplex Virus	ISH, PCR
Human Herpesvirus 6	PCR
Human Herpesvirus 8	PCR
Human papillomaviruses (HPV), incl. typing	PCR / Seq or RFLP
HPV: high risk + low risk	ISH
HPV: high risk + low risk	Hybrid capture
Influenza Viruses A+B	PCR
Norovirus	PCR
SARS Coronavirus	PCR
Parvoviruses	PCR
VZV Varicella-Zoster Virus	PCR

Analysis: Bacteria, Fungi, Protozoa	Method:
Bacteria (eubacterial PCR)	PCR
Bartonella henselae, quintana	PCR
Borrelia	PCR
Candida albicans	FISH
Chlamydia pneumoniae	PCR
Chlamydia trachomatis	PCR
EHEC / ESTEC	PCR
Enterococcus species	PCR
Helicobacter pylori	PCR
Clarithromycin (Klazid)-resistence (Helicobacter pylori)	PCR / dot-blot
Haemophilus influenzae	PCR
Legionella species	PCR
Legionella pneumophila	PCR
Listeria	PCR
Malaria-Plasmodia	PCR
Mycobacterium tuberculosis	PCR
katG-Mut (INH-Res.;Mycobacterium tuberculosis)	PCR
rpoB-Mut (RIF-Res.; Mycobacterium tuberculosis)	PCR
Mycobacterium leprae	PCR
Mycobacteria atypical incl. typing	PCR
Mycoplasma pneumoniae	PCR
Neisseria gonorrhoeae	PCR
Neisseria meningititis	PCR
Pneumococcus	PCR
Staphylococcus species	PCR
Staphylococcus aureus	PCR
MRSA	PCR
MRSA direct	PCR
Toxoplasma	PCR
Toxoplasma Gondii	PCR
Tropheryma whippelii	PCR
Yersinia enterocolitica/Pseudotuberculosis	PCR
Aspergillus fumigatus, flavus	PCR
Pneumocystis carinii	PCR

Metabolic disorders

Analysis:	Method:
HFE mutations (Exons 2 and 4); Hemochromatosis	PCR / Sequencing
M. Wilson (ATP7B, H1069Q)	PCR
Cystic fibrosis - Mutations	PCR
1-Antitrypsine-Mutat.: Pi*M/S/Z	PCR
Lactose Intolerance (T/C - 13910)	PCR
Fructose/Lactose - Intolerance	PCR
Mb. Meulengracht - UGT1A! (TA 6/7)	PCR
Familial mediteranean fever	PCR
Osteoporosis risk	PCR
Celiac disease (HLA DQ2,DQ8,DR4)	PCR
Factor V Mutation (R506Q)	PCR/Lightcycler
PCR/Lightcycler	PCR/Lightcycler

Method: Thrombophilia screening	Analysis:
Prothrombin - Mutation (G20210A)	PCR
Factor V - Mutation (G1691A)	PCR

Analysis: Pharmacogenomics	Analysis:
Cytochrome P450 (2D6, 2 C19)	Chip

Method: CVD-Screening (Cardiovascular Disease)	Analysis:
MTHFR - Mutation (C677T)	PCR
MTHFR - Mutation (A1298C)	PCR
APO B (R3500Q)	PCR
APO E (2, 3, 4)	PCR
PAI-1 (4G/5G)	PCR
HPA1 (1a/1b)	PCR
ACE (I/D)	PCR
Beta-Fibrogen (-455G>A)	PCR
Faktor XIII (V34L)	PCR

Prenatal diagnosis

Method:	Analysis:
AneuVysion Multicolor DNA Probe Kit (11,18,21,X,Y) (pränatal)	FISH
DiGeorge Syndrome VCFS Probe Set (prenatal)	FISH
WCP (Whole Chromosome Paint) DNA FISH Probes (prenatal)	FISH