Prolactinoma pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
Prolactinoma is the most common type of Pituitary adenomas. | [[Prolactinoma]] is the most common type of [[Pituitary adenoma|Pituitary adenomas]]. [[Prolactinoma]] may occur in approximately 30% of [[Multiple endocrine neoplasia type 1]].It may also occur with [[Carney complex]] or [[McCune-Albright syndrome]]. There are a few reports of familial cases of [[prolactinoma]] unrelated to [[Multiple endocrine neoplasia type 1|MEN 1 syndrome]].<ref name="pmid16411062">{{cite journal| author=Ciccarelli A, Daly AF, Beckers A| title=The epidemiology of prolactinomas. | journal=Pituitary | year= 2005 | volume= 8 | issue= 1 | pages= 3-6 | pmid=16411062 | doi=10.1007/s11102-005-5079-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16411062 }} </ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
*Most of | *Most of [[prolactinoma]] are related to [[multiple endocrine neoplasia type 1]].<ref name="pmid15153434">{{cite journal| author=Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB et al.| title=Molecular pathology of the MEN1 gene. | journal=Ann N Y Acad Sci | year= 2004 | volume= 1014 | issue= | pages= 189-98 | pmid=15153434 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15153434 }} </ref> | ||
** MEN1 gene is located on 11q13. | ** [[MEN1]] [[gene]] is located on 11q13. | ||
** MEN1 is a tumor suppressor gene which follows the 'two-hit hypothesis' which implies that both alleles that code for a particular gene must be affected before an effect is manifested. | ** [[MEN1]] [[gene]] is a [[tumor suppressor gene]] which follows the [[Tumor suppressor gene|'two-hit hypothesis']], which implies that both [[Allele|alleles]] that code for a particular [[gene]] must be affected before an effect is manifested. | ||
**This is due to the fact that if only one allele for the gene is damaged, the second can still produce the correct protein. | **This is due to the fact that if only one [[allele]] for the [[gene]] is damaged, the second can still produce the correct [[protein]]. | ||
**Affected individuals carries one altered copy of MEN1 gene and the other copy is lost due to somatic mutation. | **Affected individuals carries one altered copy of [[MEN1]] [[gene]] and the other copy is lost due to [[somatic]] [[mutation]]. | ||
==Associated Diseases== | ==Associated Diseases== | ||
[[Prolactinoma]] may occur as part of a hereditary disorder called [[multiple endocrine neoplasia type 1]] (MEN 1). A minority of | [[Prolactinoma]] may occur as part of a [[Genetic disorder|hereditary disorder]] called [[multiple endocrine neoplasia type 1]] ([[Multiple endocrine neoplasia type 1|MEN 1]]). A minority of [[prolactinoma]] are associated with:<ref name="pmid16411062">{{cite journal| author=Ciccarelli A, Daly AF, Beckers A| title=The epidemiology of prolactinomas. | journal=Pituitary | year= 2005 | volume= 8 | issue= 1 | pages= 3-6 | pmid=16411062 | doi=10.1007/s11102-005-5079-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16411062 }} </ref> | ||
*[[Carney complex]] | *[[Carney complex]] | ||
*[[McCune-Albright Syndrome]] | *[[McCune-Albright Syndrome]] | ||
====Familial pituitary adenomas==== | ====Familial [[Pituitary adenoma|pituitary adenomas]]==== | ||
A pituitary adenoma may be part of a familial syndrome:<ref name="pmid17613551">{{cite journal| author=Karhu A, Aaltonen LA| title=Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update. | journal=Hum Mol Genet | year= 2007 | volume= 16 Spec No 1 | issue= | pages= R73-9 | pmid=17613551 | doi=10.1093/hmg/ddm036 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17613551 }} </ref> | A pituitary adenoma may be part of a familial syndrome:<ref name="pmid17613551">{{cite journal| author=Karhu A, Aaltonen LA| title=Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update. | journal=Hum Mol Genet | year= 2007 | volume= 16 Spec No 1 | issue= | pages= R73-9 | pmid=17613551 | doi=10.1093/hmg/ddm036 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17613551 }} </ref> | ||
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto" | {| class="wikitable sortable" style="margin-left:auto;margin-right:auto" | ||
| Line 30: | Line 28: | ||
| ''MEN1'' | | ''MEN1'' | ||
| 11q13 | | 11q13 | ||
| characterized by the 3 Ps: '''p'''ituitary adenoma, [[parathyroid adenoma|'''p'''arathyroid adenoma]], '''p'''ancreatic neuroendocrine tumor | | characterized by the 3 Ps: [[Pituitary adenoma|'''p'''ituitary adenoma]], [[parathyroid adenoma|'''p'''arathyroid adenoma]], [[Pancreatic neuroendocrine tumor|'''p'''ancreatic neuroendocrine tumor]] | ||
|- | |- | ||
| MEN1-like syndrome | | MEN1-like syndrome | ||
| Line 40: | Line 38: | ||
| ''PRKAR1A'' | | ''PRKAR1A'' | ||
| 17q24 | | 17q24 | ||
| other findings (mnemonic ''NAME''): nevi, [[atrial myxoma]], myxoid neurofibroma, ephelides (freckles) | | other findings (mnemonic ''NAME''): [[Nevus|nevi]], [[atrial myxoma]], myxoid [[neurofibroma]], ephelides ([[freckles]]) | ||
|- | |- | ||
| Familial isolated pituitary adenoma | | Familial isolated [[pituitary adenoma]] | ||
| ''AIP'' | | ''AIP'' | ||
| 11q13 | | 11q13 | ||
| Line 50: | Line 48: | ||
|} | |} | ||
==Gross Pathology.<ref | ==Gross Pathology.<ref>{{cite book | last = Bigner | first = D. D. | title = Russell and Rubinstein's pathology of tumors of the nervous system | publisher = Hodder Arnold Distributed in the United States of America by Oxford University Press | location = London New York, NY | year = 2006 | isbn = 978-0340810071 }}</ref>== | ||
*Microprolactinoma (<10mm size) are usually found in the lateral wing of pituitary gland. They are most often surrounded by well defined pseudocapsule composed of reticulin. | *Microprolactinoma (<10mm size) are usually found in the [[lateral]] wing of [[pituitary gland]]. They are most often surrounded by well defined pseudocapsule composed of [[reticulin]]. | ||
*Macroprolactinoma (>10mm size) differ substantially in size and behavior. Some causes sellar expansion while others invade the skull base. | *Macroprolactinoma (>10mm size) differ substantially in size and behavior. Some causes [[Sella turcica|sellar]] expansion while others invade the [[skull]] base. | ||
*About 50% of all prolactinoma grossly invade surrounding structure. | *About 50% of all [[prolactinoma]] grossly invade surrounding structure. | ||
==Microscopic Pathology== | ==Microscopic Pathology== | ||
*Prolactinoma are of two types based on microscopy: | *[[Prolactinoma]] are of two types based on microscopy: | ||
# sparsely granulated variant | # sparsely granulated variant | ||
# densely granulated variant | # densely granulated variant | ||
Revision as of 18:15, 19 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Prolactinoma is the most common type of Pituitary adenomas. Prolactinoma may occur in approximately 30% of Multiple endocrine neoplasia type 1.It may also occur with Carney complex or McCune-Albright syndrome. There are a few reports of familial cases of prolactinoma unrelated to MEN 1 syndrome.[1]
Pathophysiology
- Most of prolactinoma are related to multiple endocrine neoplasia type 1.[2]
- MEN1 gene is located on 11q13.
- MEN1 gene is a tumor suppressor gene which follows the 'two-hit hypothesis', which implies that both alleles that code for a particular gene must be affected before an effect is manifested.
- This is due to the fact that if only one allele for the gene is damaged, the second can still produce the correct protein.
- Affected individuals carries one altered copy of MEN1 gene and the other copy is lost due to somatic mutation.
Associated Diseases
Prolactinoma may occur as part of a hereditary disorder called multiple endocrine neoplasia type 1 (MEN 1). A minority of prolactinoma are associated with:[1]
Familial pituitary adenomas
A pituitary adenoma may be part of a familial syndrome:[3]
| Syndrome | Gene | Gene locus | Notes |
|---|---|---|---|
| Multiple endocrine neoplasia I | MEN1 | 11q13 | characterized by the 3 Ps: pituitary adenoma, parathyroid adenoma, pancreatic neuroendocrine tumor |
| MEN1-like syndrome | CDKN1B | 12q13 | Associated with pituitary adenoma, parathyroid adenoma, neuroendocrine tumor |
| Carney complex | PRKAR1A | 17q24 | other findings (mnemonic NAME): nevi, atrial myxoma, myxoid neurofibroma, ephelides (freckles) |
| Familial isolated pituitary adenoma | AIP | 11q13 |
|
Gross Pathology.[5]
- Microprolactinoma (<10mm size) are usually found in the lateral wing of pituitary gland. They are most often surrounded by well defined pseudocapsule composed of reticulin.
- Macroprolactinoma (>10mm size) differ substantially in size and behavior. Some causes sellar expansion while others invade the skull base.
- About 50% of all prolactinoma grossly invade surrounding structure.
Microscopic Pathology
- Prolactinoma are of two types based on microscopy:
- sparsely granulated variant
- densely granulated variant
References
- ↑ 1.0 1.1 Ciccarelli A, Daly AF, Beckers A (2005). "The epidemiology of prolactinomas". Pituitary. 8 (1): 3–6. doi:10.1007/s11102-005-5079-0. PMID 16411062.
- ↑ Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB; et al. (2004). "Molecular pathology of the MEN1 gene". Ann N Y Acad Sci. 1014: 189–98. PMID 15153434.
- ↑ Karhu A, Aaltonen LA (2007). "Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update". Hum Mol Genet. 16 Spec No 1: R73–9. doi:10.1093/hmg/ddm036. PMID 17613551.
- ↑ Korbonits M, Storr H, Kumar AV (2012). "Familial pituitary adenomas - who should be tested for AIP mutations?". Clin Endocrinol (Oxf). 77 (3): 351–6. doi:10.1111/j.1365-2265.2012.04445.x. PMID 22612670.
- ↑ Bigner, D. D. (2006). Russell and Rubinstein's pathology of tumors of the nervous system. London New York, NY: Hodder Arnold Distributed in the United States of America by Oxford University Press. ISBN 978-0340810071.