Neural Crest System - Abnormalities - Revision history

Z8600021 at 23:36, 12 Ocak 2020

2020-01-12T23:36:01Z

← Older revision		Revision as of 09:36, 13 Ocak 2020
Line 146:		Line 146:

	'''Links:''' [[Neural Crest Development]] \| [http://www.ncbi.nlm.nih.gov/omim/606847 OMIM - TCOF1] \| [http://www.ncbi.nlm.nih.gov/pubmed/8563749 PMID: 8563749])		'''Links:''' [[Neural Crest Development]] \| [http://www.ncbi.nlm.nih.gov/omim/606847 OMIM - TCOF1] \| [http://www.ncbi.nlm.nih.gov/pubmed/8563749 PMID: 8563749])

			==Charcot-Marie-Tooth disease==

			Charcot-Marie-Tooth (CMT) disease is a hereditary demyelinating disease of the peripheral nervous system.

			Subtype 1A has duplication mutation of peripheral myelin protein 22 gene on chromosome {{Chr17)).

	== Melanoma ==		== Melanoma ==

Z8600021 at 04:57, 21 November 2019

2019-11-21T04:57:22Z

← Older revision		Revision as of 14:57, 21 November 2019
Line 7:		Line 7:

	{{Neural Crest Links}}		{{Neural Crest Links}}

			{\| class="wikitable mw-collapsible mw-collapsed"
			! System Abnormalities
			\|-
			\| {{Abnormality Links}}
			\|}
	== Some Recent Findings ==		== Some Recent Findings ==
	{\|		{\|

Z8600021 at 00:25, 7 November 2019

2019-11-07T00:25:12Z

← Older revision		Revision as of 10:25, 7 November 2019
Line 11:		Line 11:
	\|-bgcolor="F5FAFF"		\|-bgcolor="F5FAFF"
	\|		\|
	* '''Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination''' {{#pmid:29216801\|PMID29216801}} "The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. This deletion is correlated using family history, prenatal ultrasound, microarray analysis of amniotic fluid, and ultimately, a medical autopsy examination to further elucidate phenotypic effects of this genetic variation." (More? ~~[[Developmental Signals -~~ Sox~~\|Sox]]~~)		* '''Review - {{Hirschsprung disease}} - Insights on genes, penetrance, and prenatal diagnosis'''{{#pmid:31609069\|PMID31609069}} "The objective of this mini-review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment of colon to total colonic and small bowel or extensive aganglionosis. A recent article in this journal documented potential gene variants involved in long-segment Hirschsprung disease in 23 patients. Gene variants were identified using a 31-gene panel of genes related to Hirschsprung disease or enteric neural crest cell development, as previously reported in the literature. The study identified potentially harmful variants in eight genes across 13 patients, with a detection rate of 56.5% (13/23 patients). Five patients had pathologic variants in RET, NRG1, and L1CAM, and the remainder were considered variants of unknown significance. The authors attempted prenatal diagnosis of Hirschsprung disease utilizing an amniocentesis sample obtained for advanced maternal age in a family with a known deleterious RET mutation, manifested in the father (long-segment Hirschsprung disease) and older daughter (total colonic aganglionosis). The fetus had the same RET variant but, after several years of follow-up, has not developed any symptoms of Hirschsprung disease, supporting the conclusion that this RET mutation is an autosomal dominant gene with incomplete penetrance. This experience suggests that genetic counseling is appropriate to carefully assess the justification of prenatal testing, especially, when the phenotype of long-segment Hirschsprung disease is so variable and the disease is potentially curable with surgery."

			* '''Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination''' {{#pmid:29216801\|PMID29216801}} "The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. This deletion is correlated using family history, prenatal ultrasound, microarray analysis of amniotic fluid, and ultimately, a medical autopsy examination to further elucidate phenotypic effects of this genetic variation." (More? {{Sox}})

	* '''Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans'''{{#pmid:21841314\|PMID21841314}} "Hirschsprung (HSCR) disease is a complex genetic disorder attributed to a failure of the enteric neural crest cells (ENCCs) to form ganglia in the hindgut. Hedgehog and Notch are implicated in mediating proliferation and differentiation of ENCCs. Nevertheless, how these signaling molecules may interact to mediate gut colonization by ENCCs and contribute to a primary etiology for HSCR are not known. Here, we report our pathway-based epistasis analysis of data generated by a genome-wide association study on HSCR disease, which indicates that specific genotype constellations of Patched (PTCH1) (which encodes a receptor for Hedgehog) and delta-like 3 (DLL3) (which encodes a receptor for Notch) SNPs confer higher risk to HSCR. Importantly, deletion of Ptch1 in mouse ENCCs induced robust Dll1 expression and activation of the Notch pathway, leading to premature gliogenesis and reduction of ENCC progenitors in mutant bowels. Dll1 integrated Hedgehog and Notch pathways to coordinate neuronal and glial cell differentiation during enteric nervous system development. In addition, Hedgehog-mediated gliogenesis was found to be highly conserved, such that Hedgehog was consistently able to promote gliogenesis of human neural crest-related precursors. Collectively, we defined PTCH1 and DLL3 as HSCR susceptibility genes and suggest that Hedgehog/Notch-induced premature gliogenesis may represent a new disease mechanism for HSCR."		* '''Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans'''{{#pmid:21841314\|PMID21841314}} "Hirschsprung (HSCR) disease is a complex genetic disorder attributed to a failure of the enteric neural crest cells (ENCCs) to form ganglia in the hindgut. Hedgehog and Notch are implicated in mediating proliferation and differentiation of ENCCs. Nevertheless, how these signaling molecules may interact to mediate gut colonization by ENCCs and contribute to a primary etiology for HSCR are not known. Here, we report our pathway-based epistasis analysis of data generated by a genome-wide association study on HSCR disease, which indicates that specific genotype constellations of Patched (PTCH1) (which encodes a receptor for Hedgehog) and delta-like 3 (DLL3) (which encodes a receptor for Notch) SNPs confer higher risk to HSCR. Importantly, deletion of Ptch1 in mouse ENCCs induced robust Dll1 expression and activation of the Notch pathway, leading to premature gliogenesis and reduction of ENCC progenitors in mutant bowels. Dll1 integrated Hedgehog and Notch pathways to coordinate neuronal and glial cell differentiation during enteric nervous system development. In addition, Hedgehog-mediated gliogenesis was found to be highly conserved, such that Hedgehog was consistently able to promote gliogenesis of human neural crest-related precursors. Collectively, we defined PTCH1 and DLL3 as HSCR susceptibility genes and suggest that Hedgehog/Notch-induced premature gliogenesis may represent a new disease mechanism for HSCR."

Z8600021 at 00:00, 27 August 2018

2018-08-27T00:00:09Z

@@ Line 40: / Line 40: @@
 [[File:Childhood cancer survival rates.jpg|500px]]
 {{Table childhood cancer survival rates 1999}}
-|-
+See also data from{{#pmid:16411094|PMID16411094}} and another Italian study{{#pmid:16169813|PMID16169813}} showed: "Age of less than 1 year at time of diagnosis was a favorable prognostic factor for neuroblastoma and ganglioneuroblastoma. The extent of disease at diagnosis was related to prognosis for neuroblastoma and ganglioneuroblastoma and other selected solid tumors."

Z8600021 at 23:57, 26 August 2018

2018-08-26T23:57:42Z

← Older revision		Revision as of 09:57, 27 August 2018
Line 30:		Line 30:
	\|}		\|}
	== Neuroblastoma ==		== Neuroblastoma ==
	This childhood cancer can arise initially from the {{adrenal}} or other tissues. A smaller recent infant cancer study (Tiwan, Medical Center Cancer Registry, 1995 - 2001) of 82 infants (40 males and 42 females, 12 neonates) showed neuroblastoma as the third most common infant cancer (12 infants 14.6%).		This childhood cancer can arise initially from the {{adrenal}} or other tissues. A smaller recent infant cancer study (Tiwan, Medical Center Cancer Registry, 1995 - 2001) of 82 infants (40 males and 42 females, 12 neonates) showed neuroblastoma as the third most common infant cancer (12 infants 14.6%). The disease development is classified by the International Neuroblastoma Staging System.{{#pmid:21736987\|PMID21736987}}
	[[~~Image~~:Neuroblastoma.jpg\|thumb\|Neuroblastoma (Image: NZ Crown copyright)]]

			[[File:Neuroblastoma.jpg\|thumb\|Neuroblastoma (Image: NZ Crown copyright)]]


Line 39:		Line 41:

	Childhood cancer survival rates (1999)		Childhood cancer survival rates (1999)
			{{Table childhood cancer survival rates 1999}}
	<br>		<br>
	{\| class="prettytable"		{\| class="prettytable"

Z8600021 at 23:54, 26 August 2018

2018-08-26T23:54:09Z

← Older revision		Revision as of 09:54, 27 August 2018
Line 80:		Line 80:


	'''~~Database~~ Search:''' [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Neuroblastoma OMIM- Neuroblastoma] (2006 - 242 search results)		'''Pubmed Search:''' [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Neuroblastoma OMIM- Neuroblastoma] (2006 - 242 search results)

	'''Links:''' [http://www.ncbi.nlm.nih.gov/omim/256700 OMIM - Neuroblastoma]		'''Links:''' [http://www.ncbi.nlm.nih.gov/omim/256700 OMIM - Neuroblastoma]

			==Neurofibromatosis==

			Neurofibromatosis type 1 (NF1, von Recklinghausen's disease) is an autosomal dominant disease caused by a germ-line-inactivating mutation in the NF1 gene on chromosome {{Chr17}}.


			'''Links:''' [https://www.ncbi.nlm.nih.gov/books/NBK459329/ StatPearls]

	==DiGeorge syndrome==		==DiGeorge syndrome==

Z8600021 at 23:47, 26 August 2018

2018-08-26T23:47:00Z

← Older revision		Revision as of 09:47, 27 August 2018
Line 30:		Line 30:
	\|}		\|}
	== Neuroblastoma ==		== Neuroblastoma ==
	This childhood cancer can arise initially from the {{adrenal ~~gland~~}} or other tissues. A smaller recent infant cancer study (Tiwan, Medical Center Cancer Registry, 1995 - 2001) of 82 infants (40 males and 42 females, 12 neonates) showed neuroblastoma as the third most common infant cancer (12 infants 14.6%).		This childhood cancer can arise initially from the {{adrenal}} or other tissues. A smaller recent infant cancer study (Tiwan, Medical Center Cancer Registry, 1995 - 2001) of 82 infants (40 males and 42 females, 12 neonates) showed neuroblastoma as the third most common infant cancer (12 infants 14.6%).
	[[Image:Neuroblastoma.jpg\|thumb\|Neuroblastoma (Image: NZ Crown copyright)]]		[[Image:Neuroblastoma.jpg\|thumb\|Neuroblastoma (Image: NZ Crown copyright)]]

Z8600021 at 01:12, 22 August 2018

2018-08-22T01:12:34Z

← Older revision		Revision as of 11:12, 22 August 2018
Line 30:		Line 30:
	\|}		\|}
	== Neuroblastoma ==		== Neuroblastoma ==
	A smaller recent infant cancer study (Tiwan, Medical Center Cancer Registry, 1995 - 2001) of 82 infants (40 males and 42 females, 12 neonates) showed neuroblastoma as the third most common infant cancer (12 infants 14.6%).		This childhood cancer can arise initially from the {{adrenal gland}} or other tissues. A smaller recent infant cancer study (Tiwan, Medical Center Cancer Registry, 1995 - 2001) of 82 infants (40 males and 42 females, 12 neonates) showed neuroblastoma as the third most common infant cancer (12 infants 14.6%).
	[[Image:Neuroblastoma.jpg\|thumb\|Neuroblastoma (Image: NZ Crown copyright)]]		[[Image:Neuroblastoma.jpg\|thumb\|Neuroblastoma (Image: NZ Crown copyright)]]

Z8600021 at 01:11, 22 August 2018

2018-08-22T01:11:16Z

← Older revision		Revision as of 11:11, 22 August 2018
Line 34:		Line 34:


	~~'''~~Changes in ~~Chilhood~~ Survival Rates ~~- Neuroblastoma '''~~		===Changes in Childhood Survival Rates===

			[[File:Childhood cancer survival rates.jpg\|500px]]

			Childhood cancer survival rates (1999)
			<br>
	{\| class="prettytable"		{\| class="prettytable"
	\| '''Cancer'''		\| '''Cancer'''
Line 74:		Line 78:

	See data from{{#pmid:16411094\|PMID16411094}} and another Italian study{{#pmid:16169813\|PMID16169813}} showed: "Age of less than 1 year at time of diagnosis was a favorable prognostic factor for neuroblastoma and ganglioneuroblastoma. The extent of disease at diagnosis was related to prognosis for neuroblastoma and ganglioneuroblastoma and other selected solid tumors."		See data from{{#pmid:16411094\|PMID16411094}} and another Italian study{{#pmid:16169813\|PMID16169813}} showed: "Age of less than 1 year at time of diagnosis was a favorable prognostic factor for neuroblastoma and ganglioneuroblastoma. The extent of disease at diagnosis was related to prognosis for neuroblastoma and ganglioneuroblastoma and other selected solid tumors."


	'''Database Search:''' [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Neuroblastoma OMIM- Neuroblastoma] (2006 - 242 search results)		'''Database Search:''' [http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=omim&cmd=search&doptcmdl=DocSum&term=Neuroblastoma OMIM- Neuroblastoma] (2006 - 242 search results)
Line 230:		Line 235:
	* '''Children's Neuroblastoma Cancer Foundation''' [http://www.cncf-childcancer.org/index.aspx CNCF]		* '''Children's Neuroblastoma Cancer Foundation''' [http://www.cncf-childcancer.org/index.aspx CNCF]
	* '''Childhood Cancer Survivor Study''' [http://www.cancer.umn.edu/ltfu CCSS]		* '''Childhood Cancer Survivor Study''' [http://www.cancer.umn.edu/ltfu CCSS]
			* [https://www.aihw.gov.au/reports/cancer/cancer-compendium-information-trends-by-cancer/report-contents/summary AIHW Cancer compendium: information and trends by cancer type]

Z8600021 at 03:27, 25 Haziran 2018

2018-06-25T03:27:52Z

← Older revision		Revision as of 13:27, 25 Haziran 2018
Line 194:		Line 194:

	===Reviews===		===Reviews===
			{{#pmid:29802835}}

	{{#pmid:21271641}}		{{#pmid:21271641}}