Molecular pathology
Molecular pathology is the future of pathology.
Overview
Molecular pathology can be divided as follows:
| Molecular pathology | |||||||||||||||||||
| Molecular | Cytogenetics | ||||||||||||||||||
Molecular
General:
- Very small changes.
Techniques:
- DNA sequencing - RT-PCR.
- RNA sequencing.
- Southern blot.
Tests
Hereditary
| Target | Technique | Disease | Notes |
|---|---|---|---|
| F2[1] | PCR | thrombophilia | see Risks for VTE |
| F5[2] | PCR | thrombophilia | see Risks for VTE |
| HFE[3] Cys282Tyr, His63Asp | PCR | hemochromatosis | - |
| RYR1 | PCR & sequencing | malignant hyperthermia | anesthetics |
| several | PCR & sequencing | herediary amyloidosis | |
| HBA | PCR | Alpha thalassemia |
Lymphoma
| Target | Technique | Disease | Notes |
|---|---|---|---|
| BCL2 | PCR | follicular lymphoma vs. follicular hyperplasia | |
| several | Southern / PCR | T cell neoplasia | |
| Southern / PCR | B cell neoplasia | ||
| EBV | PTLPD vs. rejection | ||
| HHV8 | HHV8 associated lymphomas (body cavity lymphoma, primary effusion lymphoma) |
Leukemia
- Several.
Carcinoma
| 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
| Target | Technique | Disease | Notes |
|---|---|---|---|
| oligodendroglioma | |||
| 15 STRs and amelogenin (XY) loci | identity testing | ||
| KIT, BRAF | malignant melanoma | ||
| synovial sarcoma | |||
| myeloproliferative disorders | |||
| KIT | sequencing | AML, mastocytosis, GIST |
Cytogenetics
General:
- Large changes (chromosomal).
- Maximum resolution 3-4 megabase pairs (3-4 million base pairs); may be less - dependent on band density.[4]
Techniques:
- ISH = in situ hybridization.
- FISH = fluorescent in situ hybridization.
- SISH = silver in situ hybridization.[5]
Image:
World protein databank
I can't help think it is ironic that the protein databank goal is to maintain a free and publicly available archive,[6] yet the announcement is in pay-for-access journal (Nature Structual Biology).[7]
Wnt/beta-catenin pathway
Important in hepatoblastomas.[8]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 176930
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 612309
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 613609
- ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 695. ISBN 978-0781765275.
- ↑ URL: http://www.immunoportal.com/modules.php?name=News&file=article&sid=186. Accessed on: 2 May 2011.
- ↑ Worldwide Protein Data Bank. URL: http://www.wwpdb.org/faq.html Accessed on: April 22, 2009.
- ↑ Berman H, Henrick K, Nakamura H (December 2003). "Announcing the worldwide Protein Data Bank". Nat. Struct. Biol. 10 (12): 980. doi:10.1038/nsb1203-980. PMID 14634627.
- ↑ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease (7th ed.). St. Louis, Mo: Elsevier Saunders. pp. 923. ISBN 0-7216-0187-1.