Difference between revisions of "Molecular pathology"

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===Tests===
===Tests===
Hereditary:
====Hereditary====
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
! Target
! Target
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| -
| -
|-
|-
|  
| RYR1
|  
| PCR & sequencing
| Malignant hyperthermia
| malignant hyperthermia
| anesthetics
| anesthetics
|-
|-
| several
| PCR & sequencing
| herediary [[amyloidosis]]
|  
|  
|-
| HBA
| PCR
| Alpha thalassemia
|  
|  
| Herediary [[amyloidosis]]
|}
|  
 
====[[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
|
|-
|-
|  
|  
| Southern / PCR
| B cell neoplasia
|  
|  
| Alpha thalassemia
|-
|  
| EBV
|
| PTLPD vs. rejection
|
|-
| HHV8
|
| HHV8 associated lymphomas (body cavity lymphoma, primary effusion lymphoma)
|
|}
|}


[[Lymphoma]]:
====Leukemia====
*Follicular lymphoma vs. follicular hyperplasia (BCL2).
*T cell neoplasia.
*B cell neoplasia.
*PTLPD vs. rejection.
*HHV associated lymphomas.
Leukemia:
*Several.
*Several.


Carcinoma:
====Carcinoma====
*Nasopharyngeal (EBV quantitation).
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
*HPV testing.
! Target
*Metastatic [[colorectal carinoma]].
! Technique
*Non small cell [[lung cancer]].
! Disease
*Papillary thyroid carcinoma.
! 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:
====Other====
*Oligodendroglioma.
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
*Identity testing (15 STRs and amelogenin (XY) loci).
! Target
*Melanoma (KIT, BRAF).
! Technique
*[[Synovial sarcoma]].
! Disease
*Myeloproliferative disorders.
! Notes
*AML, mastocytosis, GIST.
|-
|
|
| [[oligodendroglioma]]
|
|-
|
| 15 STRs and amelogenin (XY) loci
| identity testing
|
|-
| KIT, BRAF
|
| [[malignant melanoma]]
|
|-
|
|
| [[synovial sarcoma]]
|
|-
|
|
| myeloproliferative disorders
|
|-
| KIT
| sequencing
| AML, mastocytosis, [[GIST]]
|
|}


==Cytogenetics==
==Cytogenetics==

Revision as of 14:44, 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 -
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

  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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