Lhermitte-Duclos disease: Difference between revisions

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== Classification ==
== Classification ==
* '''Lhermitte-Duclos disease (LDD)''' is one of the syndrome which belong to [[PTEN (gene)|PTEN]] [[hamartoma]] tumor syndromes (PHTS). These syndrome has been due to [[somatic]] [[mutation]] in [[phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') gene. All [[PTEN (gene)|PTEN]] hamartoma tumor syndromes (PHTS) follow [[autosomal dominant]] pattern of [[inheritance]]. [[PTEN (gene)|PTEN]] [[hamartoma]] [[tumor]] [[syndromes]] (PHTS) include the following:<ref name="pmid10400993">{{cite journal |vauthors=Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref><ref name="pmid17526800">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref><ref name="pmid9467011">{{cite journal |vauthors=Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C |title=Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation |journal=Hum. Mol. Genet. |volume=7 |issue=3 |pages=507–15 |date=March 1998 |pmid=9467011 |doi= |url=}}</ref>
* '''Lhermitte-Duclos disease (LDD)''' is one of the syndrome which belong to [[PTEN (gene)|PTEN]] [[hamartoma]] tumor syndromes (PHTS). These syndrome has been due to [[somatic]] [[mutation]] in [[phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') gene. All [[PTEN (gene)|PTEN]] hamartoma tumor syndromes (PHTS) follow [[autosomal dominant]] pattern of [[inheritance]]. [[PTEN (gene)|PTEN]] [[hamartoma]] [[tumor]] [[syndromes]] (PHTS) include the following:<ref name="pmid10400993">{{cite journal |vauthors=Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref><ref name="pmid17526800">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref><ref name="pmid9467011">{{cite journal |vauthors=Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C |title=Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation |journal=Hum. Mol. Genet. |volume=7 |issue=3 |pages=507–15 |date=March 1998 |pmid=9467011 |doi= |url=}}</ref><ref name="pmid11531761">{{cite journal |vauthors=Murray C, Shipman P, Khangure M, Chakera T, Robbins P, McAuliffe W, Davis S |title=Lhermitte-Duclos disease associated with Cowden's syndrome: case report and literature review |journal=Australas Radiol |volume=45 |issue=3 |pages=343–6 |date=August 2001 |pmid=11531761 |doi= |url=}}</ref>
** [[Cowden syndrome]]  
** [[Cowden syndrome]]  
** [[Bannayan-Riley-Ruvalcaba syndrome]]  
** [[Bannayan-Riley-Ruvalcaba syndrome]]  

Revision as of 19:00, 19 April 2019

Lhermitte-Duclos disease
OMIM 158350

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords: Dysplastic cerebellar gangliocytoma

Overview

Lhermitte-Duclos disease (LDD) is also called as dysplastic gangliocytoma of the cerebellum. Lhermitte-Duclos disease (LDD) is a very rare disease. Lhermitte-Duclos disease (LDD) follows an autosomal dominant pattern of inheritance. Lhermitte-Duclos disease (LDD) is a rare entity that may occur in the association of Cowden's syndrome (CS). In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.

Historical Perspective

  • Lhermitte-Duclos disease (LDD) was first discovered by Lhermitte and Duclos as "Sur un ganglioneurome diffus du cortex du cervelet", in 1920.[1][2]

Classification

Pathophysiology

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Differentiating Xyz from other Diseases

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References

  1. Bhatia JK, Bhatoe HS, Vadhanan S (December 2016). "Lhermitte-Duclos disease: A rare entity". Med J Armed Forces India. 72 (Suppl 1): S147–S149. doi:10.1016/j.mjafi.2016.03.012. PMC 5192211. PMID 28050098.
  2. Kumar R, Vaid VK, Kalra SK (July 2007). "Lhermitte-Duclos disease". Childs Nerv Syst. 23 (7): 729–32. doi:10.1007/s00381-006-0271-8. PMID 17221273.
  3. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C (August 1999). "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome". Hum. Mol. Genet. 8 (8): 1461–72. PMID 10400993.
  4. Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
  5. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C (March 1998). "Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation". Hum. Mol. Genet. 7 (3): 507–15. PMID 9467011.
  6. Murray C, Shipman P, Khangure M, Chakera T, Robbins P, McAuliffe W, Davis S (August 2001). "Lhermitte-Duclos disease associated with Cowden's syndrome: case report and literature review". Australas Radiol. 45 (3): 343–6. PMID 11531761.
  7. Pilarski, R.; Burt, R.; Kohlman, W.; Pho, L.; Shannon, K. M.; Swisher, E. (2013). "Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria". JNCI Journal of the National Cancer Institute. 105 (21): 1607–1616. doi:10.1093/jnci/djt277. ISSN 0027-8874.
  8. Krymskaya VP, Goncharova EA (February 2009). "PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects". Cell Cycle. 8 (3): 403–13. doi:10.4161/cc.8.3.7555. PMID 19177005.
  9. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
  10. Kwon CH, Zhu X, Zhang J, Baker SJ (October 2003). "mTor is required for hypertrophy of Pten-deficient neuronal soma in vivo". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12923–8. doi:10.1073/pnas.2132711100. PMC 240720. PMID 14534328.
  11. Arafa SR, LaSarge CL, Pun R, Khademi S, Danzer SC (January 2019). "Self-reinforcing effects of mTOR hyperactive neurons on dendritic growth". Exp. Neurol. 311: 125–134. doi:10.1016/j.expneurol.2018.09.019. PMID 30268766. Vancouver style error: initials (help)
  12. Santos VR, Pun R, Arafa SR, LaSarge CL, Rowley S, Khademi S, Bouley T, Holland KD, Garcia-Cairasco N, Danzer SC (December 2017). "PTEN deletion increases hippocampal granule cell excitability in male and female mice". Neurobiol. Dis. 108: 339–351. doi:10.1016/j.nbd.2017.08.014. PMC 5675774. PMID 28855130. Vancouver style error: initials (help)
  13. Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW (October 1998). "Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN". Cell. 95 (1): 29–39. PMID 9778245.
  14. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
  15. Keniry M, Parsons R (September 2008). "The role of PTEN signaling perturbations in cancer and in targeted therapy". Oncogene. 27 (41): 5477–85. doi:10.1038/onc.2008.248. PMID 18794882.

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