Difference between revisions of "Molecular pathology"

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===Tests===
===Tests===
====Hereditary====
A list of tests are found in the ''[[Molecular pathology tests]]'' article.
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
! Target
! Technique
! Disease
! Notes
|-
| F2<ref>{{OMIM|176930}}</ref>
| PCR
| thrombophilia
| see ''[[Pulmonary_embolism#Risks_factors_.28VTE.29|Risks for VTE]]''
|-
| F5<ref>{{OMIM|612309}}</ref>
| PCR
| thrombophilia
| see ''[[Pulmonary_embolism#Risks_factors_.28VTE.29|Risks for VTE]]''
|-
| HFE<ref>{{OMIM|613609}}</ref> Cys282Tyr, His63Asp
| PCR
| [[hemochromatosis]]
| -
|-
| RYR1
| PCR & sequencing
| malignant hyperthermia
| anesthetics
|-
| several
| PCR & sequencing
| herediary [[amyloidosis]]
|
|-
| HBA
| PCR
| Alpha thalassemia
|
|}
 
====[[Lymphoma]]====
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
! 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
|
| PTLPD vs. rejection
|
|-
| HHV8
| PCR, HPV linear array
| HHV8 associated lymphomas (body cavity lymphoma, primary effusion lymphoma)
|
|}
 
====Leukemia====
*Several.
 
====Carcinoma====
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
! 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====
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
! 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]]
|
|}


==Cytogenetics==
==Cytogenetics==

Revision as of 16:13, 3 May 2011

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

A list of tests are found in the Molecular pathology tests article.

Cytogenetics

General:

  • Large changes (chromosomal).
    • Maximum resolution 3-4 megabase pairs (3-4 million base pairs); may be less - dependent on band density.[1]

Techniques:

  • ISH = in situ hybridization.
    • FISH = fluorescent in situ hybridization.
    • SISH = silver in situ hybridization.[2]

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,[3] yet the announcement is in pay-for-access journal (Nature Structual Biology).[4]

Wnt/beta-catenin pathway

Important in hepatoblastomas.[5]

See also

References

  1. 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.
  2. URL: http://www.immunoportal.com/modules.php?name=News&file=article&sid=186. Accessed on: 2 May 2011.
  3. Worldwide Protein Data Bank. URL: http://www.wwpdb.org/faq.html Accessed on: April 22, 2009.
  4. 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.
  5. 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.