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| ==Differential Diagnosis== | | ==Differential Diagnosis== |
| Multiple endocrine neoplasia type 2 must be differentiated from the following hereditary diseases.<ref>{{Cite journal | | Multiple endocrine neoplasia type 2 must be differentiated from the following diseases. |
| | author = [[Jessica Marquard]] & [[Charis Eng]]
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| | title = Multiple Endocrine Neoplasia Type 2
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| | year = 1993
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| | month =
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| | pmid = 20301434
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| }}</ref>
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| ! style="background: #4479BA; width: 33%;" | {{fontcolor|#FFF|Disease}}
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| ! style="background: #4479BA; width: 67%;" | {{fontcolor|#FFF|Definition}}
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[Medullary thyroid carcinoma]]
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| | style="padding: 5px 5px; background: #F5F5F5;" |[[Medullary thyroid cancer]] (MTC) is a form of [[thyroid carcinoma]] which originates from the [[parafollicular cell]]s ([[C cell]]s), which produce the [[hormone]] [[calcitonin]].
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |C-cell hyperplasia
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| | style="padding: 5px 5px; background: #F5F5F5;" |It is a genetic condition that causes proliferation of [[C cell]]s of [[parathyroid gland]].
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[Pheochromocytoma]]
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| | style="padding: 5px 5px; background: #F5F5F5;" | A [[neuroendocrine tumor]] of the [[medulla]] of the [[adrenal gland]]s (originating in the [[chromaffin cell]]s), or extra-adrenal [[chromaffin]] [[tissue]] that failed to involute after birth.
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[von Hippel Lindau syndrome]]
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| | style="padding: 5px 5px; background: #F5F5F5;" |An [[autosomal dominant]] genetic disorder causing abnormal growth of [[blood vessel]]s in different parts of the [[body]].
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Hereditary paraganglioma-pheochromocytoma syndrome
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| | style="padding: 5px 5px; background: #F5F5F5;" |A genetic disorder causing abnormal growth of [[ganglion]]s along with [[tumor]] of the [[medulla]] of [[adrenal gland]].
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Polycythemia and paraganglioma/pheochromocytoma
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| | style="padding: 5px 5px; background: #F5F5F5;" |A genetic disorder causing abnormal growth of [[ganglion]]s and [[RBC]] cells.
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[Neurofibromatosis type 1]]
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| | style="padding: 5px 5px; background: #F5F5F5;" |[[Neurofibromatosis type I]] is a [[tumor]] disorder that is caused by the [[mutation]] of a [[gene]] on [[chromosome 17]] that is responsible for control of [[cell]] division causing [[tumor]]s along the [[nervous system]]. Common symptoms of [[neurofibromatosis type I]] include [[scoliosis]] (curvature of the [[spine]]), learning disabilities, [[vision]] disorders, and [[epilepsy]].
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| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[Multiple endocrine neoplasia type 1]] (MEN 1)
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| | style="padding: 5px 5px; background: #F5F5F5;" |An [[autosomal dominant]] genetic disorder causing [[tumor]]s of [[parathyroid]], [[pancreas]], and [[pituitary gland]].
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| | style="padding: 5px 5px; background: #F5F5F5;" colspan="2"|<small>Adapted from Marquard J, Eng C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2015 Jun 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1257/<ref>{{Cite journal
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| | author = [[Jessica Marquard]] & [[Charis Eng]]
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| | title = Multiple Endocrine Neoplasia Type 2
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| | year = 1993
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| | month =
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| | pmid = 20301434
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| }}</ref>
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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 2 must be differentiated from other hereditary tumors such as medullary thyroid carcinoma, C-cell hyperplasia, pheochromocytoma, von Hippel Lindau syndrome, hereditary paraganglioma-pheochromocytoma, polycythemia and paraganglioma/pheochromocytoma syndrome, neurofibromatosis type 1, and multiple endocrine neoplasia type 1 (MEN 1).
Differential Diagnosis
Multiple endocrine neoplasia type 2 must be differentiated from the following diseases.
| Disease
|
Gene
|
Chromosome
|
Differentiating Features
|
Components of MEN
|
Diagnosis
|
| Parathyroid
|
Pitutary
|
Pancreas
|
| 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)
|
-
|
-
|
+
|
- Clinical diagnosis
- In hereditary VHL, disease techniques such as Southern blotting and gene sequencing can be used to analyse DNA and identify mutations.
|
| 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)
|
-
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-
|
-
|
|
| Neurofibromatosis type 1
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RAS
|
17
|
|
-
|
-
|
-
|
Prenatal
- Chorionic villus sampling or amniocentesis can be used to detect NF-1 in the fetus.
Postnatal
Cardinal Clinical Features" are required for positive diagnosis.
- Six or more café-au-lait spots over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.
- Two or more neurofibromas of any type or 1 plexiform neurofibroma
- Freckling in the axillary (Crowe sign) or inguinal regions
- Optic glioma
- Two or more Lisch nodules (pigmented iris hamartomas)
- A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudarthrosis.
|
| Li-Fraumeni syndrome
|
TP53
|
17
|
Early onset of diverse amount of cancers such as
|
-
|
-
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-
|
Criteria
- Sarcoma at a young age (below 45)
- A first-degree relative diagnosed with any cancer at a young age (below 45)
- A first or second degree relative with any cancer diagnosed before age 60.
|
| Gardner's syndrome
|
APC
|
5q21
|
- Multiple polyps in the colon
- Osteomas of the skull
- Thyroid cancer,
- Epidermoid cysts,
- Fibromas
- Desmoid tumors
|
-
|
-
|
-
|
- Clinical diagnosis
- Colonoscopy
|
| Multiple endocrine neoplasia type 2
|
RET
|
-
|
|
+
|
-
|
-
|
Criteria
Two or more specific endocrine tumors
|
| Cowden syndrome
|
PTEN
|
-
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Hamartomas
|
-
|
-
|
-
|
- PTEN mutation probability risk calculator
|
| Acromegaly/gigantism
|
-
|
-
|
|
-
|
+
|
-
|
|
| Pituitary adenoma
|
-
|
-
|
|
-
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+
|
-
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|
| Hyperparathyroidism
|
-
|
-
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-
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+
|
-
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-
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- An elevated concentration of serum calcium with elevated parathyroid hormone level is diagnostic of primary hyperparathyroidism.
- Most consistent laboratory findings associated with the diagnosis of secondary hyperparathyroidism include elevated serum parathyroid hormone level and low to normal serum calcium.
- An elevated concentration of serum calcium with elevated parathyroid hormone level in post renal transplant patients is diagnostic of tertiary hyperparathyoidism.
|
| Pheochromocytoma/paraganglioma
|
VHL
RET
NF1
SDHB
SDHD
|
-
|
Characterized by
|
-
|
-
|
-
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- Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
|
| Adrenocortical carcinoma
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- p53
- Retinoblastoma h19
- Insulin-like growth factor II (IGF-II)
- p57kip2
|
17p, 13q
|
|
-
|
-
|
-
|
- 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
Template:WikiDoc Sources