Medulloblastoma pathophysiology: Difference between revisions

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Revision as of 21:43, 29 September 2015

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Haytham Allaham, M.D. [2]

Overview

Medulloblastoma arises from the cerebellar stem cells, which are normally involved in the anatomical development of the cerebellum and other posterior fossa structures. Medulloblastoma is an invasive and rapidly growing tumor which frequently metastasize to different organs of the body. Genes involved in the pathogenesis of medulloblastoma include CTNNB1 gene, PTCH1 gene, MLL2 gene, SMARCA4 gene, DDX3X gene, CTDNEP1 gene, KDM6A gene, and TBR1 gene. Medullobastomas is associated with a number of syndromes that include Gorlin syndrome and Turcot syndrome.^[1] On gross pathology, a pink, solid, and well circumscribed mass is a characteristic finding of medulloblastoma. On microscopic histopathological analysis, round tumor cells, elevated mitotic rate, increased nucleus:cytoplasm ratio, and presence of Homer-Wright rosettes are characteristic findings of medulloblastoma.^[2]

Pathogenesis

Medulloblastoma arises from the cerebellar stem cells, which are normally involved in the anatomical development of the cerebellum and other posterior fossa structures.^[1]
Medulloblastoma is usually located at the infratentorial region, where it forms a mass between the brain stem and the cerebellum in the vicinity of the fourth ventricle.^[1]
Medulloblastoma is an invasive and rapidly growing tumor.^[1]
Unlike most brain tumors, medulloblastoma may spread through the cerebrospinal fluid and metastasize to different organs of the body.^[1]

Genetics

Development of medulloblastoma is the result of multiple genetic mutations.^[1]
Genes involved in the pathogenesis of medulloblastoma include:^[1]

CTNNB1 gene on chromosome 3
PTCH1 gene located on chromosome 9
MLL2 gene located on chromosome 12
SMARCA4 gene located on chromosome 19
DDX3X gene located on X chromosome
CTDNEP1 gene located on chromosome 17
KDM6A gene located on X chromosome
TBR1 gene located on chromosome 2

Associated Conditions

Medullobastomas is associated with a number of syndromes that include:^[1]^[3]

Gross Pathology

On gross pathology, a pink, solid, and well circumscribed mass is a characteristic finding of medulloblastoma.^[1]
The following image demonstrates the gross pathology observed in medulloblastoma:

Image courtesy of Dr Frank Gaillard Radiopaedia(original file "here"). Creative Commons BY-SA-NC

Mircoscopic Pathology

On microscopic histopathological analysis, round tumor cells, elevated mitotic rate, increased nucleus:cytoplasm ratio, and presence of Homer-Wright rosettes are characteristic findings of medulloblastoma.^[2]
Shown below is a series of microscopic images observed in medulloblastoma:

Medulloblastoma smear^[2]
Medulloblastoma smear ^[2]
Medulloblastoma smear demonstrating Homer-Wright rosettes^[2]
Medulloblastoma smear demonstrating cerebellar infiltrative growth^[2]
Medullloblastoma smear demonstrating demsomplastic nodular growth^[2]
Anaplastic large cell medulloblastoma smear^[2]
Medulloblastoma smear^[2]
Desmoplastic medulloblastoma smear on reticulin stain demonstrating "pale islands"^[2]
Desmoplastic medulloblastoma on MIB-1 immunostaining^[2]
Medulloblastoma smear demonstrating areas of geographic necrosis^[2]
Medulloblastoma smear demonstrating epitheloid ribboning and nuclear moulding of tumor cells^[2]
Medulloblastoma smear demonstrating partial MAP2 immunoreactivity^[2]

References

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 ^1.8 Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September 2015
↑ ^2.00 ^2.01 ^2.02 ^2.03 ^2.04 ^2.05 ^2.06 ^2.07 ^2.08 ^2.09 ^2.10 ^2.11 ^2.12 ^2.13 Medulloblastoma. Librepathology(2015) http://librepathology.org/wiki/index.php/Medulloblastoma Accessed on September, 28th 2015
↑ Medulloblastoma. Radiopaedia(2015) http://radiopaedia.org/articles/medulloblastoma Accessed on September, 28th 2015

Template:WikiDoc Sources

[wiki-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 ^1.8 Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September 2015

[patho-2] 2.00 ^2.01 ^2.02 ^2.03 ^2.04 ^2.05 ^2.06 ^2.07 ^2.08 ^2.09 ^2.10 ^2.11 ^2.12 ^2.13 Medulloblastoma. Librepathology(2015) http://librepathology.org/wiki/index.php/Medulloblastoma Accessed on September, 28th 2015

[radio-3] Medulloblastoma. Radiopaedia(2015) http://radiopaedia.org/articles/medulloblastoma Accessed on September, 28th 2015

[1]

[2]

[3]

@@ Line 4: / Line 4: @@
 ==Overview==
-Medulloblastoma arises from the cerebellar [[stem cell]]s, which are normally involved in the anatomical development of the [[cerebellum]] and other posterior fossa structures. Medulloblastoma is an invasive and rapidly growing [[tumor]] which frequently metastasize to different organs of the body. [[Genes]] involved in the pathogenesis of medulloblastoma include ''CTNNB1'' gene, ''PTCH1'' gene, ''MLL2'' gene, ''SMARCA4'' gene, ''DDX3X'' gene, ''CTDNEP1'' gene, ''KDM6A'' gene, and ''TBR1'' gene.<ref name="wiki"> Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September 2015</ref> On gross pathology, a pink, solid, and well circumscribed mass is a characteristic finding of medulloblastoma. On microscopic histopathological analysis, round tumor cells, elevated mitotic rate, increased nucleus:cytoplasm ratio, and presence of Homer-Wright rosettes are characteristic findings of medulloblastoma.<ref name="patho">Medulloblastoma. Librepathology(2015) http://librepathology.org/wiki/index.php/Medulloblastoma Accessed on September, 28th 2015</ref>
+Medulloblastoma arises from the cerebellar [[stem cell]]s, which are normally involved in the anatomical development of the [[cerebellum]] and other posterior fossa structures. Medulloblastoma is an invasive and rapidly growing [[tumor]] which frequently metastasize to different organs of the body. [[Genes]] involved in the pathogenesis of medulloblastoma include ''CTNNB1'' gene, ''PTCH1'' gene, ''MLL2'' gene, ''SMARCA4'' gene, ''DDX3X'' gene, ''CTDNEP1'' gene, ''KDM6A'' gene, and ''TBR1'' gene. Medullobastomas is associated with a number of syndromes that include [[Gorlin syndrome]] and [[Turcot syndrome]].<ref name="wiki"> Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September 2015</ref> On gross pathology, a pink, solid, and well circumscribed mass is a characteristic finding of medulloblastoma. On microscopic histopathological analysis, round tumor cells, elevated mitotic rate, increased nucleus:cytoplasm ratio, and presence of Homer-Wright rosettes are characteristic findings of medulloblastoma.<ref name="patho">Medulloblastoma. Librepathology(2015) http://librepathology.org/wiki/index.php/Medulloblastoma Accessed on September, 28th 2015</ref>
 ==Pathogenesis==
@@ Line 11: / Line 11: @@
 * Medulloblastoma is an invasive and rapidly growing [[tumor]].<ref name="wiki"> Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September 2015</ref>
 * Unlike most brain tumors, medulloblastoma may spread through the [[cerebrospinal fluid]] and metastasize to different organs of the body.<ref name="wiki"> Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September 2015</ref>
-* Medulloblastoma is often associated with [[Gorlin syndrome]] and [[Turcot syndrome]].<ref name="wiki"> Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September 2015</ref>
 ==Genetics==
 * Development of medulloblastoma is the result of multiple [[genetic mutation]]s.<ref name="wiki">Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September, 29th 2015</ref>
 * [[Genes]] involved in the pathogenesis of medulloblastoma include:<ref name="wiki">Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September, 29th 2015</ref>
@@ Line 25: / Line 23: @@
 :* ''KDM6A'' gene located on X chromosome
 :* ''TBR1'' gene located on [[chromosome 2]]
+==Associated Conditions==
+*Medullobastomas is associated with a number of syndromes that include:<ref name="wiki"> Medulloblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Medulloblastoma Accessed on September 2015</ref><ref name="radio">Medulloblastoma. Radiopaedia(2015) http://radiopaedia.org/articles/medulloblastoma Accessed on September, 28th 2015</ref>
+:* [[Gorlin syndrome]]
+:* [[Turcot syndrome]]
+:* [[Coffin-Siris syndrome]]
+:* [[Cowden syndrome]]
+:* [[Gardner syndrome]]
+:* [[Li-Fraumeni syndrome]]
+:* [[Rubinstein-Taybi syndrome]]
 ==Gross Pathology==