Multiple endocrine neoplasia type 1 differential diagnosis: Difference between revisions

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Revision as of 21:35, 16 October 2017

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

Overview

Multiple endocrine neoplasia type 1 must be differentiated from other hereditary diseases such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma and acromegaly.

Differential Diagnosis

Multiple endocrine neoplasia type 1 must be differentiated from the hereditary diseases shown in the table below.


Disease	Gene	Chromosome	Differentiating Features	Components of MEN			Diagnosis
Disease	Gene	Chromosome	Differentiating Features	Parathyroid	Pitutary	Pancreas	Diagnosis
von Hippel-Lindau syndrome	Von Hippel–Lindau tumor suppressor	3p25.3	Angiomatosis, Hemangioblastomas, Pheochromocytoma, Renal cell carcinoma, Pancreatic cysts (pancreatic serous cystadenoma) Endolymphatic sac tumor, Bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women)			+
Carney complex	PRKAR1A	17q23-q24	Myxomas of the heart Hyperpigmentation of the skin (lentiginosis) Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease)	-	-	-
Neurofibromatosis type 1	RAS	17	scoliosis Learning disabilities vision disorders Cutaneous lesions epilepsy.	-	-	-
Li-Fraumeni syndrome	TP53	17	Early onset of diverse amount of cancers such as sarcoma, cancers of breast brain adrenal glands	-	-	-
Gardner's syndrome	APC	5q21	Multiple polyps in the colon Osteomas of the skull Thyroid cancer, Epidermoid cysts, Fibromas Desmoid tumors	-	-	-
Multiple endocrine neoplasia type 2	RET		medullary thyroid carcinoma (MTC) pheochromocytoma Primary hyperparathyroidism	+	-	-
Cowden syndrome	PTEN		Hamartomas,	-	-	-
Acromegaly/gigantism			Enlargement of the hands, feet, nose, lips and ears, and a general thickening of the skin hypertrichosis hyperpigmentation hyperhidrosis carpal tunnel syndrome.	-	+	-
Pituitary adenoma			visual field defects classically bitemporal hemianopsia Increased intracranial pressure migraine lateral rectus palsy		+
Hyperparathyroidism			kidney stones hypercalcemia, constipation peptic ulcers depression	+
Pheochromocytoma/paraganglioma	VHL RET NF1 SDHB SDHD		Characterized by Episodic hypertension palpitations anxiety diaphoresis weight loss	-	-	-	Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
Adrenocortical carcinoma	p53 Retinoblastoma h19 insulin-like growth factor II (IGF-II) p57^kip2	17p, 13q	Cushing syndrome (cortisol hypersecretion) Conn syndrome (aldosterone hypersecretion) virilization (testosterone hypersecretion)	-	-	-	increased serum glucose increased urine cortisol serum androstenedione and dehydroepiandrosterone low serum potassium low plasma renin activity high serum aldosterone. excess serum estrogen.
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013^[1]

References

↑ Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.

Template:WS Template:WH

[pmid23917672-1] Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.

[1]

@@ Line 12: / Line 12: @@
 |+
 ! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease}}
-! rowspan="2" style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|Definition}}
 ! rowspan="2" |Gene
 ! rowspan="2" |Chromosome
 ! rowspan="2" |Differentiating Features
 ! colspan="3" |Components of MEN
+! rowspan="2" |Diagnosis
 |-
 !Parathyroid
@@ Line 23: / Line 23: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[von Hippel-Lindau syndrome]]
-| style="padding: 5px 5px; background: #F5F5F5;" |[[autosomal dominant]]
 |Von Hippel–Lindau tumor suppressor
 |3p25.3
@@ Line 37: / Line 36: @@
 |
 | +
+|
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Carney complex]]
-| style="padding: 5px 5px; background: #F5F5F5;" |[[autosomal dominant]]
 | PRKAR1A
 |17q23-q24
@@ Line 49: / Line 48: @@
 | -
 | -
+|
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Neurofibromatosis type 1]]
-| style="padding: 5px 5px; background: #F5F5F5;" | [[autosomal dominant]]
+|RAS
-|
 |17
 |
-* [[scoliosis]] (curvature of the [[spine]])
+* [[scoliosis]]
 * Learning disabilities
 * [[vision]] disorders
@@ Line 63: / Line 62: @@
 | -
 | -
+|
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Li-Fraumeni syndrome]]
-| style="padding: 5px 5px; background: #F5F5F5;" | [[autosomal dominant]]
 |TP53
 |17
@@ Line 77: / Line 76: @@
 | -
 | -
+|
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Gardner's syndrome]]
-| style="padding: 5px 5px; background: #F5F5F5;" | [[autosomal dominant]]
 |APC
 | 5q21
@@ Line 92: / Line 91: @@
 | -
 | -
+|
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Multiple endocrine neoplasia type 2]]
-| style="padding: 5px 5px; background: #F5F5F5;" |[[autosomal dominant]] disorder characterized by
 |''RET''
 |
@@ Line 104: / Line 103: @@
 | -
 | -
+|
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]]
-| style="padding: 5px 5px; background: #F5F5F5;" |A rare [[autosomal dominant]] disorder due to [[germline mutation]] of, a [[tumor suppressor gene]] characterized by multiple [[tumor]]-like growths called [[hamartoma]]s.
 |PTEN
 |
-|
+| Hamartomas,
-|
+| -
-|
+|<nowiki>-</nowiki>
-|
+| -
-|-
-| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cushing's syndrome]]
-| style="padding: 5px 5px; background: #F5F5F5;" | A disorder due to prolonged exposure to [[cortisol]] characterized by [[hypertension]], abdominal [[obesity]] but with thin [[arm]]s and [[leg]]s, purple [[abdominal striae]], [[moon facies]], [[buffalo lump]], weak [[muscle]]s, weak [[bone]]s, [[acne]], and fragile [[skin]] that [[heal]]s poorly.
-|
-|
-|
-|
-|
 |
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Acromegaly]]/[[gigantism]]
-| style="padding: 5px 5px; background: #F5F5F5;" |A rare syndrome due to excess [[growth hormone]] characterized by enlargement of the [[hand]]s, [[feet]], [[nose]], [[lip]]s and [[ear]]s, and a general thickening of the [[skin]], [[hypertrichosis]], [[hyperpigmentation]] and [[hyperhidrosis]] and [[carpal tunnel syndrome]].
-|
-|
-|
-|
-|
-|
-|-
-| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperaldosteronism]]
-| style="padding: 5px 5px; background: #F5F5F5;" |A [[disorder]] due to excess production of the [[aldosterone]] by the [[adrenal gland]]s characterized by  [[hypertension]], muscular weakness, [[muscle]] spasms, tingling sensations and excessive [[urination]].
-|
-|
 |
 |
 |
+* Enlargement of the [[hand]]s, [[feet]], [[nose]], [[lip]]s and [[ear]]s, and a general thickening of the [[skin]]
+* [[hypertrichosis]]
+* [[hyperpigmentation]]
+* [[hyperhidrosis]]
+* [[carpal tunnel syndrome]].
+|<nowiki>-</nowiki>
+|<nowiki>+</nowiki>
+|<nowiki>-</nowiki>
 |
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pituitary adenoma]]
-| style="padding: 5px 5px; background: #F5F5F5;" |A [[tumor]] in [[pituitary gland]] characterized by [[visual field defect]]s, classically [[bitemporal hemianopsia]], increased [[intracranial pressure]], [[migraine]] and [[lateral rectus]] palsy.
 |
 |
 |
+* [[visual field defect]]s classically [[bitemporal hemianopsia]]
+* Increased [[intracranial pressure]]
+* [[migraine]]
+* [[lateral rectus]] palsy
 |
+|<nowiki>+</nowiki>
 |
 |
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperparathyroidism]]
-| style="padding: 5px 5px; background: #F5F5F5;" |A [[disorder]] due to excess production of [[parathyroid]] hormone characterized by  [[kidney stone]]s, [[hypercalcemia]], [[constipation]], [[peptic ulcer]]s and [[depression]].
-|
-|
-|
-|
-|
-|
-|-
-| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Thyroid carcinoma]]
-| style="padding: 5px 5px; background: #F5F5F5;" |A [[tumor]] of the [[thyroid gland]] characterized by [[sign]]s and symptoms of [[hyperthryroidism]] or [[hypothyroidism]].
 |
 |
 |
+* [[kidney stone]]s
+* [[hypercalcemia]],
+* [[constipation]]
+* [[peptic ulcer]]s
+* [[depression]]
+|<nowiki>+</nowiki>
 |
 |
@@ Line 169: / Line 156: @@
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pheochromocytoma]]/[[paraganglioma]]
-| style="padding: 5px 5px; background: #F5F5F5;" |A [[neuroendocrine tumor]] of the [[medulla]] of the [[adrenal gland]]s characterized by episodic [[hypertension]], [[palpitation]]s, [[anxiety]], [[diaphoresis]] and [[weight loss]].
+|''VHL''
-|
-|
+''RET''
-|
-|
+''NF1''
+''SDHB''
+''SDHD''
 |
+|Characterized by
+* Episodic [[hypertension]]
+* [[palpitation]]s
+* [[anxiety]]
+* [[diaphoresis]]
+* [[weight loss]]
+|<nowiki>-</nowiki>
+|<nowiki>-</nowiki>
+|<nowiki>-</nowiki>
 |
+* Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
+*
 |-
 | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Adrenocortical carcinoma]]
-| style="padding: 5px 5px; background: #F5F5F5;" |An aggressive [[cancer]] originating in the [[cortex]] of the [[adrenal gland]] that may either by non-secretory (asymptomatic) or secretory with signs and symptoms of [[Cushing syndrome]] ([[cortisol]] hypersecretion), [[Conn syndrome]] ([[aldosterone]] hypersecretion), [[virilization]] ([[testosterone]] hypersecretion)
+|p53
-|
-|
+Retinoblastoma h19
-|
-|
+insulin-like growth factor II (IGF-II)
+p57<sup>kip2</sup>
+|17p, 13q
 |
+* [[Cushing syndrome]] ([[cortisol]] hypersecretion)
+* [[Conn syndrome]] ([[aldosterone]] hypersecretion)
+* [[virilization]] ([[testosterone]] hypersecretion)
+|<nowiki>-</nowiki>
+|<nowiki>-</nowiki>
+|<nowiki>-</nowiki>
 |
+* increased serum glucose
+* increased urine cortisol
+* serum androstenedione and dehydroepiandrosterone
+* low serum potassium
+* low plasma renin activity
+* high serum aldosterone.
+* excess serum estrogen.
 |-
-| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672  }} </ref> </small>
+| colspan="8" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672  }} </ref> </small>
-|
-|
-|
-|
-|
-|
 |}

Multiple endocrine neoplasia type 1 differential diagnosis: Difference between revisions

Revision as of 21:35, 16 October 2017

Overview

Differential Diagnosis

References

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