Neurofibromatosis type 1 differential diagnosis

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

Overview

Neurofibromatosis type 1 should be differentiated from other genetic disorders who present with overlapping features, such as Von Hippel-Lindau syndrome, Carney complex, Li-Fraumeni syndrome, Gardner's syndrome, Multiple endocrine neoplasia type 2, Cowden syndrome, Acromegaly/gigantism, Pituitary adenoma, Hyperparathyroidism, Pheochromocytoma/paraganglioma, Adrenocortical carcinoma.

Differentiating neurofibromatosis type 1 from other Diseases

Neurofibromatosis type 1 can be differentitated from other genetic disorders by the following characteristics:[1][2][3][4][5][6][7][8][9][10][11]

Disease Gene Chromosome Differentiating Features Components of MEN Diagnosis
Parathyroid Pitutary Pancreas
Von Hippel-Lindau syndrome[1] Von Hippel–Lindau tumor suppressor[1] 3p25.3[1] - - +
  • Clinical diagnosis[1]
  • In hereditary VHL, disease techniques such as Southern blotting and gene sequencing can be used to analyse DNA and identify mutations.[1]
Carney complex[2] PRKAR1A[2] 17q23-q24[2]
  • Myxomas of the heart[2]
  • Hyperpigmentation of the skin (lentiginosis)[2]
  • Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease)[2]
 - - -
  • Clinical diagnosis[2]
Neurofibromatosis type 1[12] NF1[12] 17[12] - - - Prenatal
  • Chorionic villus sampling or amniocentesis can be used to detect NF-1 in the fetus.[12]

Postnatal Cardinal Clinical Features" are required for positive diagnosis.[12]

  • 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.[12]
  • Two or more neurofibromas of any type or 1 plexiform neurofibroma[12]
  • Freckling in the axillary (Crowe sign) or inguinal regions[12]
  • Optic glioma[12]
  • Two or more Lisch nodules (pigmented iris hamartomas)[12]
  • A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudarthrosis.[12]
Li-Fraumeni syndrome[3] TP53[3] 17[3] Early onset of diverse amount of cancers such as - - - Criteria
  • Sarcoma at a young age (below 45)[3]
  • A first-degree relative diagnosed with any cancer at a young age (below 45)[3]
  • A first or second degree relative with any cancer diagnosed before age 60.[3]
Gardner's syndrome[4] APC[4] 5q21[4] - - -
  • Clinical diagnosis[4]
  • Colonoscopy[4]
Multiple endocrine neoplasia type 2[5] RET[5] - + - -

Criteria Two or more specific endocrine tumors

Cowden syndrome[6] PTEN[6] - Hamartomas[6] - - -
  • PTEN mutation probability risk calculator[6]
Acromegaly/gigantism[7] GNAS1[7] 20[7] - + -
Pituitary adenoma[8] - - - + -
Hyperparathyroidism[9] - - - + - -
Pheochromocytoma/paraganglioma[10] VHL RET NF1  SDHB SDHD[10] - Characterized by - - -
  • Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.[10]
Adrenocortical carcinoma[11] 17p, 13q[11] - - -
  • Increased serum glucose[11]
  • Increased urine cortisol[11]
  • Serum androstenedione and dehydroepiandrosterone[11]
  • Low serum potassium[11]
  • Low plasma renin activity[11]
  • High serum aldosterone.[11]
  • Excess serum estrogen.[11]
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[13]

References

  1. ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 Varshney N, Kebede AA, Owusu-Dapaah H, Lather J, Kaushik M, Bhullar JS (2017). "A Review of Von Hippel-Lindau Syndrome". J Kidney Cancer VHL. 4 (3): 20–29. doi:10.15586/jkcvhl.2017.88. PMC 5541202. PMID 28785532.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Correa R, Salpea P, Stratakis CA (October 2015). "Carney complex: an update". Eur. J. Endocrinol. 173 (4): M85–97. doi:10.1530/EJE-15-0209. PMC 4553126. PMID 26130139.
  3. ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 Correa H (June 2016). "Li-Fraumeni Syndrome". J Pediatr Genet. 5 (2): 84–8. doi:10.1055/s-0036-1579759. PMC 4918696. PMID 27617148.
  4. ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 4.11 Füredi G, Varga I, Máj C, Szilágyi A, Madácsy L, Paál Z, Altorjay Á (September 2019). "[Gardner's syndrome, a rare disease]". Magy Seb (in Hungarian). 72 (3): 107–111. doi:10.1556/1046.72.2019.3.4. PMID 31544480.
  5. ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 5.11 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301434. Vancouver style error: initials (help); Missing or empty |title= (help)
  6. ↑ 6.0 6.1 6.2 6.3 6.4 Taghavi A, Mirfazaelian H, Shirian S, Aledavood A, Akhgar A (June 2018). "Cowden syndrome". Br J Hosp Med (Lond). 79 (6): 352–353. doi:10.12968/hmed.2018.79.6.352. PMID 29894252.
  7. ↑ 7.0 7.1 7.2 7.3 7.4 7.5 7.6 7.7 7.8 7.9 Colao A, Grasso L, Giustina A, Melmed S, Chanson P, Pereira AM, Pivonello R (March 2019). "Acromegaly". Nat Rev Dis Primers. 5 (1): 20. doi:10.1038/s41572-019-0071-6. PMID 30899019. Vancouver style error: initials (help)
  8. ↑ 8.00 8.01 8.02 8.03 8.04 8.05 8.06 8.07 8.08 8.09 8.10 8.11 Møller MW, Andersen MS, Glintborg D, Pedersen CB, Halle B, Kristensen BW, Poulsen FR (May 2019). "[Pituitary adenoma]". Ugeskr. Laeg. (in Danish). 181 (20). PMID 31124446.
  9. ↑ 9.0 9.1 9.2 9.3 9.4 9.5 9.6 9.7 9.8 9.9 Bilezikian JP, Bandeira L, Khan A, Cusano NE (January 2018). "Hyperparathyroidism". Lancet. 391 (10116): 168–178. doi:10.1016/S0140-6736(17)31430-7. PMID 28923463.
  10. ↑ 10.0 10.1 10.2 10.3 10.4 10.5 10.6 10.7 10.8 Farrugia FA, Charalampopoulos A (July 2019). "Pheochromocytoma". Endocr Regul. 53 (3): 191–212. doi:10.2478/enr-2019-0020. PMID 31517632.
  11. ↑ 11.00 11.01 11.02 11.03 11.04 11.05 11.06 11.07 11.08 11.09 11.10 11.11 11.12 11.13 11.14 11.15 11.16 Kranjčević K (December 2016). "[ADRENOCORTICAL CARCINOMA]". Acta Med Croatica. 70 (4–5): 315–8. PMID 29087170.
  12. ↑ 12.00 12.01 12.02 12.03 12.04 12.05 12.06 12.07 12.08 12.09 12.10 12.11 12.12 12.13 12.14 12.15 Cimino PJ, Gutmann DH (2018). "Neurofibromatosis type 1". Handb Clin Neurol. 148: 799–811. doi:10.1016/B978-0-444-64076-5.00051-X. PMID 29478615.
  13. ↑ Toledo SP, Lourenço DM, Toledo RA (July 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.

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