Difference between revisions of "Molecular pathology"

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===Tests===
===Tests===
Hereditary:
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
! Target
! Target
! Technique
! Technique
! Disease
! Disease
! Notes
|-
|-
| F2<ref>{{OMIM|176930}}</ref>
| F2<ref>{{OMIM|176930}}</ref>
| PCR
| PCR
| thrombophilia  
| 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]]
| -
|-
|
|
| Malignant hyperthermia
| anesthetics
|-
|-
|  
|  
|
|  
|
| Herediary [[amyloidosis]]
|
|-
|
|
| Alpha thalassemia
|  
|}
|}


*Hereditary:
[[Lymphoma]]:
**Factor V.
*Follicular lymphoma vs. follicular hyperplasia (BCL2).
**Factor II.
*T cell neoplasia.
**[[Hemochromatosis]].
*B cell neoplasia.
**Malignant hyperthermia.
*PTLPD vs. rejection.
**Hereditary [[amyloidosis]].
*HHV associated lymphomas.
**Alpha thalassemia.
Leukemia:
*[[Lymphoma]].
*Several.
**Follicular lymphoma vs. follicular hyperplasia (BCL2).
 
**T cell neoplasia.
Carcinoma:
**B cell neoplasia.
*Nasopharyngeal (EBV quantitation).
**PTLPD vs. rejection.
*HPV testing.
**HHV associated lymphomas.
*Metastatic [[colorectal carinoma]].
*Leukemia.
*Non small cell [[lung cancer]].
*Carcinoma:
*Papillary thyroid carcinoma.
**Nasopharyngeal (EBV quantitation).
 
**HPV testing.
Other:
**Metastatic [[colorectal carinoma]].
*Oligodendroglioma.
**Non small cell [[lung cancer]].
*Identity testing (15 STRs and amelogenin (XY) loci).
**Papillary thyroid carcinoma.
*Melanoma (KIT, BRAF).
*Other:
*[[Synovial sarcoma]].
**Oligodendroglioma.
*Myeloproliferative disorders.
**Identity testing (15 STRs and amelogenin (XY) loci).
*AML, mastocytosis, GIST.
**Melanoma (KIT, BRAF).
**[[Synovial sarcoma]].
**Myeloproliferative disorders.
**AML, mastocytosis, GIST.


==Cytogenetics==
==Cytogenetics==

Revision as of 14:17, 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

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 -
Malignant hyperthermia anesthetics
Herediary amyloidosis
Alpha thalassemia

Lymphoma:

  • Follicular lymphoma vs. follicular hyperplasia (BCL2).
  • T cell neoplasia.
  • B cell neoplasia.
  • PTLPD vs. rejection.
  • HHV associated lymphomas.

Leukemia:

  • Several.

Carcinoma:

Other:

  • Oligodendroglioma.
  • Identity testing (15 STRs and amelogenin (XY) loci).
  • Melanoma (KIT, BRAF).
  • Synovial sarcoma.
  • Myeloproliferative disorders.
  • 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

  1. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 176930
  2. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 612309
  3. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 613609
  4. ↑ 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.
  5. ↑ URL: http://www.immunoportal.com/modules.php?name=News&file=article&sid=186. Accessed on: 2 May 2011.
  6. ↑ Worldwide Protein Data Bank. URL: http://www.wwpdb.org/faq.html Accessed on: April 22, 2009.
  7. ↑ 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.
  8. ↑ 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.
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