Molecular methods
Molecular: DNA & RNA purification DNA sequencing FISH overview microarray PCR history & applications PCR overview short tandem repeat genotyping
Next generation sequencing: NGS-general NGS library prep
Drugs with companion diagnostics: Larotrectinib (LOXO-101)
Subspecialty molecular markers
Applicable to various solid tumors
microsatellite instability NTRK molecular tumor mutation burden
Bone and soft tissue
Bone: BCOR CAMTA1 EWSR1 FOS (pending) FOSB (pending) GRM1 (pending) H3.3 G34W (H3F3A) H3K36M (pending) MDM2 USP6 (pending)
Soft tissue: ALK (D5F3) CAMTA1 CIC::DUX4 DDIT3 (pending) EWSR1 FOSB (pending) FOXO1 MDM2 MyoD1 NAB2::STAT6 NTRK molecular t(X;18) USP6 (pending)
Breast
BRCA HER2 PARP PI3K / PIK3CA tumor prognostic profiling (pending)
CNS
ATRX codeletion 1p / 19q EGFR IDH1 and IDH2 MGMT promoter hypermethylation PTEN RB1
GI
albumin ISH (pending) BRAF V600E HER2 colon HER2 stomach GEJ KIT / CD117 molecular testing (pending) KIT / CD117 (IHC, molecular pending) KRAS microsatellite instability pathway MLH1 (pending) PDGFRA SDH (pending) TP53
GU
FGFR
Hemepath
B lymphoid: BCL2 BCL6 BCL10 (pending) BRAF V600E BTK (pending) CCND1 CREBBP (pending) CXCR4 EZH2 (pending) IgH IGK (pending) IGL (pending) IRF4 (pending) KMT2D (pending) MYC MYD88 NOTCH1 (pending) NOTCH2 (pending) TNFAIP3 (pending) TP53
T lymphoid: ALK DUSP22 (pending) IDH2 (pending) NOTCH1 (pending) p63 (pending) RHOA (pending) STAT3 TCL1 TRG and TRB (pending)
Myeloid: ASXL1 (pending) BCOR (pending) BCR::ABL1 CALR CBFB::MYH11 (pending) CEBPA (pending) CSF3R DDX41 (pending) DEK::NUP214 (pending) ETV6 (pending) EZH2 (pending) FGFR1 (pending) FLT3 GATA2 (pending) IDH1 and IDH2 JAK2 KMT2D (pending) MECOM (pending) MPL NPM1 NUP98 (pending) PDGFRA PDGFRB (pending) PML::RARA RBM15::MRTFA (pending) RUNX1 SAMD9L (pending) SF3B1 (pending) STAG2 (pending) SRSF2 (pending) U2AF1 (pending) ZRSR2 (pending)
Precursor lymphoblastic: BCR::ABL1 ETV6::RUNX1 iAMP21 (pending) IGH::IL3 (pending) KMT2A (MLL) TCF3::HLF (pending) TCF3::PBX1
Lung
ALK BRAF V600E EGFR KRAS MET RET ROS1 STK11
Renal
MET SETD2 (pending) VHL
Skin
Melanocytic: BRAF V600E-melanoma HRAS KIT NRAS PTEN
Thyroid: BRAF V600E KRAS RET TERT
Nononcologic inherited diseases
cystic fibrosis hemochromatosis
Superpages: entire chapter images virtual slides
Index (Alphabetical table of contents)
A-E:
albumin ISH (pending)
ALK
ATRX
BCL2
BCL6
BCR::ABL1
BRAF V600E
BRAF V600E-melanoma
BRCA
CALR
CCND1
CEBPA (pending)
codeletion 1p / 19q
CSF3R
CXCR4
cystic fibrosis
DNA & RNA purification
DNA sequencing
EGFR
EWSR1
F-N:
FGFR
FISH overview
FLT3
FOXO1
H3.3 G34W (H3F3A)
H3K36M (pending)
hemochromatosis
HER2 breast
HER2 colon
HER2 stomach GEJ
HRAS
IDH1 and IDH2
IgH
JAK2
KIT / CD117 (IHC, molecular pending)
KIT (melanoma)
KMT2A (MLL)
KRAS
MDM2
MET
MGMT promoter hypermethylation
microarray
microsatellite instability
microsatellite instability pathway (colon)
MLH1 (pending)
molecular (soft tissue)
MPL
MYC
MYD88
MYOD1
NAB2-STAT6
NGS-general
NGS library prep
NOTCH1 (pending)
NPM1
NRAS
NTRK molecular
O-Z:
PARP
PCR history & applications
PCR overview
PDGFRA
PI3K / PIK3CA
PML::RARA
PTEN
RB1
RET
ROS1
RUNX1
SDH (pending)
SETD2 (pending)
SF3B1 (pending)
short tandem repeat genotyping
STAT3
STK11
TCL1
TRG and TRB (pending)
tumor mutation burden
tumor prognostic profiling (pending)
t(X;18) (pending)
USP6 (pending)
VHL
Molecular markers books
Bartlett: 2015
Bluth: 2018
Cheng: 2023
Furtado: 2018
Mitchell: 2018
Patrinos: 2016
Rifai: 2023
Schmitt: 2018
Vasef: 2024
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