Familial adenomatous polyposis differential diagnosis: Difference between revisions

Latest revision as of 21:43, 29 July 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2], Mohamad Alkateb, MBBCh [3]

Overview

Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps, such as Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Carney syndrome, and hereditary non–polyposis colon cancer (Lynch syndrome).

Differentiating familial adenomatous polyposis from other Diseases

Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps including:^[1]^[2]^[3]^[4]^[5]

Diseases	History and Symptoms			Physical Examination			Laboratory Findings			Other Findings
Diseases	Abdominal Pain	Rectal Bleeding	Fatigue	Abdominal Tenderness	Hyperpigmentation	Anemia	Gene(s)	Gastrointestinal Tumors	Cancers	Other Findings
Familial Adenomatous Polyposis	+	+	+	+/–	–	+	APC gene MUTYH gene	Adenoma+++	Colon Brain Thyroid	Desmoid tumor Osteoma
Peutz–Jeghers syndrome	+	+	+	+	+	+	STK11 (LBK1) gene	Adenoma+ Hamartoma+++	Breast Lung Pancreas Ovaries Sertoli cells Uterus
Juvenile Polyposis Syndrome	+		+	–	–	–	SMAD4 BMPR1A	Adenoma+ Hamartoma+++	Colon
Cowden Syndrome	–	–	–	–	Axillary+ Inguinal+ Facial+	–	PTEN	Adenoma+ Hamartoma+++	Breast Thyroid Endometrium	Trichilemmoma Skin hamartoma Hyperplastic polyp Macrocephaly Breast fibrosis
Carney Syndrome	–	–	–	–	Facial+ Mucosal+	–	PRKAR1A		Thyroid Sertoli Cell	Myxoma of skin Myxoma of heart
Hereditary Non–Polyposis Colon Cancer	–	+	+	+/–	–	+	MLH1 MSH2 MSH3 MSH6 PMS1 PMS2	Adenoma+	Endometrium Stomach Kidneys Ureter Ovaries	Sebaceous adenoma

References

↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Jasperson KW, Patel SG, Ahnen DJ. "APC-Associated Polyposis Conditions". PMID 20301519. Vancouver style error: initials (help)
↑ Beech D, Pontius A, Muni N, Long WP (2001). "Familial adenomatous polyposis: a case report and review of the literature". J Natl Med Assoc. 93 (6): 208–13. PMC 2594024. PMID 11446392.
↑ Half, Elizabeth; Bercovich, Dani; Rozen, Paul (2009). "Familial adenomatous polyposis". Orphanet Journal of Rare Diseases. 4 (1): 22. doi:10.1186/1750-1172-4-22. ISSN 1750-1172.
↑ Nieuwenhuis, M.H.; Vasen, H.F.A. (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature". Critical Reviews in Oncology/Hematology. 61 (2): 153–161. doi:10.1016/j.critrevonc.2006.07.004. ISSN 1040-8428.
↑ King, John E.; Dozois, Roger R.; Lindor, Noralane M.; Ahlquist, David A. (2000). "Care of Patients and Their Families With Familial Adenomatous Polyposis". Mayo Clinic Proceedings. 75 (1): 57–67. doi:10.4065/75.1.57. ISSN 0025-6196.

[pmid20301519-1] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Jasperson KW, Patel SG, Ahnen DJ. "APC-Associated Polyposis Conditions". PMID 20301519. Vancouver style error: initials (help)

[pmid11446392-2] Beech D, Pontius A, Muni N, Long WP (2001). "Familial adenomatous polyposis: a case report and review of the literature". J Natl Med Assoc. 93 (6): 208–13. PMC 2594024. PMID 11446392.

[HalfBercovich2009-3] Half, Elizabeth; Bercovich, Dani; Rozen, Paul (2009). "Familial adenomatous polyposis". Orphanet Journal of Rare Diseases. 4 (1): 22. doi:10.1186/1750-1172-4-22. ISSN 1750-1172.

[NieuwenhuisVasen2007-4] Nieuwenhuis, M.H.; Vasen, H.F.A. (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature". Critical Reviews in Oncology/Hematology. 61 (2): 153–161. doi:10.1016/j.critrevonc.2006.07.004. ISSN 1040-8428.

[KingDozois2000-5] King, John E.; Dozois, Roger R.; Lindor, Noralane M.; Ahlquist, David A. (2000). "Care of Patients and Their Families With Familial Adenomatous Polyposis". Mayo Clinic Proceedings. 75 (1): 57–67. doi:10.4065/75.1.57. ISSN 0025-6196.

[1]

[2]

[3]

[4]

[5]

@@ Line 1: / Line 1: @@
 __NOTOC__
-{{Familial adenomatous polyposis}}
+[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Familial_adenomatous_polyposis]]
-{{CMG}} {{AE}} {{MJK}}
+{{CMG}} {{AE}} {{SSH}}, {{MJK}}
 ==Overview==
-Familial adenomatous polyposis must be differentiated from other diseases that cause multiple [[Polyp|polyps]], such as [[Peutz-Jeghers syndrome]], familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and [[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]].
+Familial adenomatous polyposis must be differentiated from other diseases that cause multiple [[Polyp|polyps]], such as [[Peutz-Jeghers syndrome|Peutz–Jeghers syndrome]], [[juvenile polyposis syndrome]], [[Cowden syndrome]], [[Carney syndrome]], and [[Hereditary nonpolyposis colorectal cancer|hereditary non–polyposis colon cancer]] ([[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]]).
 ==Differentiating familial adenomatous polyposis from other Diseases==
-* Familial adenomatous polyposis must be differentiated from other diseases that cause multiple [[Polyp|polyps]] including:
+Familial adenomatous polyposis must be differentiated from other diseases that cause multiple [[Polyp|polyps]] including:<ref name="pmid20301519">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Jasperson KW, Patel SG, Ahnen DJ |title=APC-Associated Polyposis Conditions. |journal= |volume= |issue= |pages= |year= |pmid=20301519 |doi= |url=}}</ref><ref name="pmid11446392">{{cite journal |vauthors=Beech D, Pontius A, Muni N, Long WP |title=Familial adenomatous polyposis: a case report and review of the literature |journal=J Natl Med Assoc |volume=93 |issue=6 |pages=208–13 |year=2001 |pmid=11446392 |pmc=2594024 |doi= |url=}}</ref><ref name="HalfBercovich2009">{{cite journal|last1=Half|first1=Elizabeth|last2=Bercovich|first2=Dani|last3=Rozen|first3=Paul|title=Familial adenomatous polyposis|journal=Orphanet Journal of Rare Diseases|volume=4|issue=1|year=2009|pages=22|issn=1750-1172|doi=10.1186/1750-1172-4-22}}</ref><ref name="NieuwenhuisVasen2007">{{cite journal|last1=Nieuwenhuis|first1=M.H.|last2=Vasen|first2=H.F.A.|title=Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature|journal=Critical Reviews in Oncology/Hematology|volume=61|issue=2|year=2007|pages=153–161|issn=10408428|doi=10.1016/j.critrevonc.2006.07.004}}</ref><ref name="KingDozois2000">{{cite journal|last1=King|first1=John E.|last2=Dozois|first2=Roger R.|last3=Lindor|first3=Noralane M.|last4=Ahlquist|first4=David A.|title=Care of Patients and Their Families With Familial Adenomatous Polyposis|journal=Mayo Clinic Proceedings|volume=75|issue=1|year=2000|pages=57–67|issn=00256196|doi=10.4065/75.1.57}}</ref>
-** [[Peutz-Jeghers syndrome]]
+* [[Peutz-Jeghers syndrome|Peutz–Jeghers syndrome]]
-** Familial juvenile polyps or hyperplastic polyposis
+* [[Juvenile polyposis syndrome]]
-** Hereditary mixed polyposis syndromes
+* [[Cowden syndrome]]
-** [[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]]
+* [[Carney syndrome]]
+* [[Lynch syndrome|Hereditary Non–Polyposis Colon Cancer]] ([[Hereditary nonpolyposis colorectal cancer|Lynch syndrome]])
 {|
 |- style="background: #4479BA; color: #FFFFFF; text-align: center;"
@@ Line 35: / Line 35: @@
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/-
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/–
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[APC (gene)|''APC'' gene]]
 * [[MUTYH|''MUTYH'' gene]]
-| style="background: #F5F5F5; padding: 5px; text-align: left;" |[[Adenoma]]+++
+| style="background: #F5F5F5; padding: 5px; text-align: left;" |
+* [[Adenoma]]+++
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Colon (anatomy)|Colon]]
@@ Line 50: / Line 51: @@
 * [[Osteoma]]
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Peutz-Jeghers syndrome|'''Peutz-Jeghers syndrome''']]
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Peutz-Jeghers syndrome|'''Peutz–Jeghers syndrome''']]
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
-| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |
-| style="background: #F5F5F5; padding: 5px; text-align: center;" |
+* [[STK11]] (LBK1) gene
-| style="background: #F5F5F5; padding: 5px; text-align: center;" |
+| style="background: #F5F5F5; padding: 5px; text-align: left;" |
-| style="background: #F5F5F5; padding: 5px; text-align: center;" |
+* [[Adenoma]]+
+* [[Hamartoma]]+++
+| style="background: #F5F5F5; padding: 5px; text-align: left;" |
+* [[Breast]]
+* [[Lung]]
+* [[Pancreas]]
+* [[Ovaries]]
+* [[Sertoli cell|Sertoli cells]]
+* [[Uterus]]
+| style="background: #F5F5F5; padding: 5px; text-align: left;" |
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Juvenile Polyposis Syndrome'''
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Juvenile polyposis syndrome|Juvenile Polyposis Syndrome]]'''
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * SMAD4
 * [[BMPR1A]]
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Adenoma]]+
+* [[Adenoma]]+
-[[Hamartoma]]+++
+* [[Hamartoma]]+++
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Colon (anatomy)|Colon]]
@@ Line 80: / Line 90: @@
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Cowden syndrome|'''Cowden Syndrome''']]
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Axillary]]+
+* [[Axillary]]+ [[Inguinal region|Inguinal]]+ [[Facial]]+
-[[Inguinal region|Inguinal]]+
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-[[Facial]]+
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[PTEN (gene)|PTEN]]
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Adenoma]]+
+* [[Adenoma]]+
-[[Hamartoma]]+++
+* [[Hamartoma]]+++
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Breast]]
@@ Line 100: / Line 108: @@
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Trichilemmoma]]
-* Skin hamartoma
+* Skin [[hamartoma]]
-* Hyperplastic polyp
+* [[Colon polyps|Hyperplastic polyp]]
-* Macrocephaly
+* [[Macrocephaly]]
-* Breast fibrosis
+* Breast [[fibrosis]]
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']]
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Facial]]+
+* [[Facial]]+ [[Mucous membrane|Mucosal]]+
-[[Mucous membrane|Mucosal]]+
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[PRKAR1A]]
@@ Line 124: / Line 131: @@
 * Myxoma of [[heart]]
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hereditary nonpolyposis colorectal cancer|'''Hereditary Non-Polyposis Colon Cancer''']]
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hereditary nonpolyposis colorectal cancer|'''Hereditary Non–Polyposis Colon Cancer''']]
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/-
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/–
-| style="background: #F5F5F5; padding: 5px; text-align: center;" | -
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | –
 | style="background: #F5F5F5; padding: 5px; text-align: center;" | +
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
@@ Line 139: / Line 146: @@
 * [[PMS2]]
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
-[[Adenoma]]+
+* [[Adenoma]]+
 | style="background: #F5F5F5; padding: 5px; text-align: left;" |
 * [[Endometrium]]
@@ Line 152: / Line 159: @@
 ==References==
 {{Reflist|2}}
+[[Category:Medicine]]
 [[Category:Gastroenterology]]
-[[Category:Genetic disorders]]
-[[Category:Genetic Disease]]
-[[Category:Disease]]
-{{WH}}
-{{WS}}
- [[Category:Up-To-Date]]
 [[Category:Oncology]]
-[[Category:Medicine]]
+[[Category:Up-To-Date]]
-[[Category:Gastroenterology]]

Familial adenomatous polyposis differential diagnosis: Difference between revisions

Latest revision as of 21:43, 29 July 2020

Overview

Differentiating familial adenomatous polyposis from other Diseases

References

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