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Isolated melanotic schwannoma

MedGen UID:
987386
Concept ID:
CN305451
Disease or Syndrome
Synonyms: Isolated melanocytic schwannoma; isolated melanotic schwannoma
 
Monarch Initiative: MONDO:0035136
Orphanet: ORPHA590539

Definition

A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated melanotic schwannoma

Recent clinical studies

Etiology

El Madi A, Irtan S, Sauvat F, Zérah M, Schleiermacher G, Galmiche-Roland L, Minard-Colin V, Brisse H, Sarnacki S
Pediatr Blood Cancer 2017 Oct;64(10) Epub 2017 Apr 14 doi: 10.1002/pbc.26527. PMID: 28409885
Edwards A, Bermudez C, Piwonka G, Berr ML, Zamorano J, Larrain E, Franck R, Gonzalez M, Alvarez E, Maiers E
Cardiovasc Surg 2002 Jun;10(3):264-75. doi: 10.1016/s0967-2109(01)00144-2. PMID: 12044436

Diagnosis

Scheithauer BW, Erdogan S, Rodriguez FJ, Burger PC, Woodruff JM, Kros JM, Gokden M, Spinner RJ
Am J Surg Pathol 2009 Mar;33(3):325-38. doi: 10.1097/PAS.0b013e31818d6470. PMID: 19065105
Edwards A, Bermudez C, Piwonka G, Berr ML, Zamorano J, Larrain E, Franck R, Gonzalez M, Alvarez E, Maiers E
Cardiovasc Surg 2002 Jun;10(3):264-75. doi: 10.1016/s0967-2109(01)00144-2. PMID: 12044436
Prieto-Rodríguez M, Camañas-Sanz A, Bas T, Cortés B, Vera-Sempere FJ
Diagn Cytopathol 1998 Oct;19(4):298-302. doi: 10.1002/(sici)1097-0339(199810)19:4<298::aid-dc15>3.0.co;2-i. PMID: 9784997

Prognosis

El Madi A, Irtan S, Sauvat F, Zérah M, Schleiermacher G, Galmiche-Roland L, Minard-Colin V, Brisse H, Sarnacki S
Pediatr Blood Cancer 2017 Oct;64(10) Epub 2017 Apr 14 doi: 10.1002/pbc.26527. PMID: 28409885
Scheithauer BW, Erdogan S, Rodriguez FJ, Burger PC, Woodruff JM, Kros JM, Gokden M, Spinner RJ
Am J Surg Pathol 2009 Mar;33(3):325-38. doi: 10.1097/PAS.0b013e31818d6470. PMID: 19065105
Edwards A, Bermudez C, Piwonka G, Berr ML, Zamorano J, Larrain E, Franck R, Gonzalez M, Alvarez E, Maiers E
Cardiovasc Surg 2002 Jun;10(3):264-75. doi: 10.1016/s0967-2109(01)00144-2. PMID: 12044436

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