Difference between revisions of "Molecular pathology tests"

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===Leukemia===
===Leukemia===
BCR-ABL - used to detect residual disease.<ref>{{Ref PCPBoD8|175}}</ref>
Tests for leukemias:<ref name=uhn_molecular_tests>University Health Network. Molecular diagnostics - current testing. Document number: PMD10002. Version 2.0. March 30, 2011.</ref>
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
! Target
! Technique
! Disease
! Notes
|-
| BCR-ABL1 t(9;22)
| RQ-PCR
| CML, ALL
| used to detect residual disease<ref>{{Ref PCPBoD8|175}}</ref>
|-
| MLL-AF4 t(4;11)
| RQ-PCR
|
|
|-
| PML-RARA t(15;17)
| RQ-PCR
| APL
| detect relapse, diagnostic, determines therapy
|-
| RUNX1-RUNX1T1 (AKA AML1/ETO) t(8;21)
| RQ-PCR
| AML-M2
| good prognosis
|-
| CBFB-MYHII t(16;16)
| RQ-PCR
| AML-M4Eo
| good prognosis
|-
| ETV6-RUNX1 t(12;21)
| RQ-PCR
| ALL, AML
| good prognosis
|-
| FLT3, NPM1 (FLT-3, NPM)
| RT-PCR/RE digest
| AML
| prognostic
|-
| 15 STR loci, amelogenin
| PCR
| chimerism (post BMT), identity testing
| monitor transplants
|}


===Carcinoma===
===Carcinoma===

Revision as of 14:37, 17 May 2011

This article is a collection of molecular pathology tests. It is not meant to be complete list. It is there to give a flavour of what is out there and how things are done.

Hereditary

Tests for hereditary conditions:[1]

Target Technique Disease Notes
F2[2] PCR thrombophilia see Risks for VTE
F5[3] PCR thrombophilia see Risks for VTE
HFE[4] Cys282Tyr, His63Asp PCR hemochromatosis -
RYR1 PCR & sequencing malignant hyperthermia anesthetics
several PCR & sequencing herediary amyloidosis
HBA PCR Alpha thalassemia

Lymphoma

Tests for lymphomas:[1]

Target Technique Disease Notes
BCL2 PCR follicular lymphoma vs. follicular hyperplasia
several Southern / PCR T cell neoplasia
Ig heavy chain, Ig light chain Southern / PCR B cell neoplasia
EBV PTLD vs. rejection
HHV-8 PCR, HPV linear array HHV-8 associated lymphomas (body cavity lymphoma, primary effusion lymphoma)

Leukemia

Tests for leukemias:[1]

Target Technique Disease Notes
BCR-ABL1 t(9;22) RQ-PCR CML, ALL used to detect residual disease[5]
MLL-AF4 t(4;11) RQ-PCR
PML-RARA t(15;17) RQ-PCR APL detect relapse, diagnostic, determines therapy
RUNX1-RUNX1T1 (AKA AML1/ETO) t(8;21) RQ-PCR AML-M2 good prognosis
CBFB-MYHII t(16;16) RQ-PCR AML-M4Eo good prognosis
ETV6-RUNX1 t(12;21) RQ-PCR ALL, AML good prognosis
FLT3, NPM1 (FLT-3, NPM) RT-PCR/RE digest AML prognostic
15 STR loci, amelogenin PCR chimerism (post BMT), identity testing monitor transplants

Carcinoma

Tests for carcinomas:[1]

Target Technique Disease Notes
EBV quantitation PQ-PCR Nasopharyngeal carcinoma
HPV several PCR squamous cell carcinoma (cervix)
KRAS, BRAF fluorescent RFLP, real time PCR, sequencing netastatic colorectal carinoma
EGRF fluorescent RFLP non small cell lung cancer
BRAF V600E ARMS papillary thyroid carcinoma

Other

Tests for miscellaneous things:[1]

Target Technique Disease Notes
LOH 1p, 19q PCR oligodendroglioma
15 STRs and amelogenin (XY) loci identity testing
KIT, BRAF sequencying, ARMS malignant melanoma
several PQ-PCR synovial sarcoma
JAK2 V617F ARMS myeloproliferative disorders
KIT sequencing AML, mastocytosis, GIST

See also

References

  1. ↑ 1.0 1.1 1.2 1.3 1.4 University Health Network. Molecular diagnostics - current testing. Document number: PMD10002. Version 2.0. March 30, 2011.
  2. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 176930
  3. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 612309
  4. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 613609
  5. ↑ Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 175. ISBN 978-1416054542.
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