Schwannomatosis

The overlooked neurofibromatosis?

Nicholas A. Koontz, Andrea L. Wiens, Atul Agarwal, Cynthia M. Hingtgen, Robert Emerson, Kristine Mosier

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

OBJECTIVE. Schwannomas are typically benign tumors that occur sporadically, in neurofibromatosis type 2 (NF2), or in an entity called " schwannomatosis." Schwannomatosis patients develop multiple schwannomas without involvement of the vestibular apparatus. Geneticists, neurologists, and pathologists have recognized that schwannomatosis is distinct from NF2, but schwannomatosis remains unfamiliar to many radiologists. This article reviews the current medical literature, highlighting the similarities and differences between the schwannomatosis and NF2 phenotypes, genotypes, clinical manifestations, management considerations, and imaging findings. CONCLUSION. Imaging plays a critical role in diagnosing schwannomatosis, and a basic understanding of this syndrome is of interest to diagnostic radiologists. Moreover, it is imperative that radiologists be able to differentiate schwannomatosis from NF2 on imaging because there are significant differences in the management of these two diseases and clinical outcomes for affected patients.

Original languageEnglish
JournalAmerican Journal of Roentgenology
Volume200
Issue number6
DOIs
StatePublished - Jun 2013

Fingerprint

Neurofibromatoses
Neurofibromatosis 2
Neurilemmoma
Labyrinth Vestibule
Disease Management
Schwannomatosis
Genotype
Phenotype
Radiologists

Keywords

  • Congenital neurilemmomatosis
  • Neurilemmoma
  • Neurofibromatosis
  • Peripheral nerve sheath tumor
  • Schwannoma
  • Schwannomatosis

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Medicine(all)

Cite this

Schwannomatosis : The overlooked neurofibromatosis? / Koontz, Nicholas A.; Wiens, Andrea L.; Agarwal, Atul; Hingtgen, Cynthia M.; Emerson, Robert; Mosier, Kristine.

In: American Journal of Roentgenology, Vol. 200, No. 6, 06.2013.

Research output: Contribution to journalArticle

Koontz, Nicholas A. ; Wiens, Andrea L. ; Agarwal, Atul ; Hingtgen, Cynthia M. ; Emerson, Robert ; Mosier, Kristine. / Schwannomatosis : The overlooked neurofibromatosis?. In: American Journal of Roentgenology. 2013 ; Vol. 200, No. 6.
@article{54a0a11cfd784ca49a439dba7da485e7,
title = "Schwannomatosis: The overlooked neurofibromatosis?",
abstract = "OBJECTIVE. Schwannomas are typically benign tumors that occur sporadically, in neurofibromatosis type 2 (NF2), or in an entity called {"} schwannomatosis.{"} Schwannomatosis patients develop multiple schwannomas without involvement of the vestibular apparatus. Geneticists, neurologists, and pathologists have recognized that schwannomatosis is distinct from NF2, but schwannomatosis remains unfamiliar to many radiologists. This article reviews the current medical literature, highlighting the similarities and differences between the schwannomatosis and NF2 phenotypes, genotypes, clinical manifestations, management considerations, and imaging findings. CONCLUSION. Imaging plays a critical role in diagnosing schwannomatosis, and a basic understanding of this syndrome is of interest to diagnostic radiologists. Moreover, it is imperative that radiologists be able to differentiate schwannomatosis from NF2 on imaging because there are significant differences in the management of these two diseases and clinical outcomes for affected patients.",
keywords = "Congenital neurilemmomatosis, Neurilemmoma, Neurofibromatosis, Peripheral nerve sheath tumor, Schwannoma, Schwannomatosis",
author = "Koontz, {Nicholas A.} and Wiens, {Andrea L.} and Atul Agarwal and Hingtgen, {Cynthia M.} and Robert Emerson and Kristine Mosier",
year = "2013",
month = "6",
doi = "10.2214/AJR.12.8577",
language = "English",
volume = "200",
journal = "American Journal of Roentgenology",
issn = "0361-803X",
publisher = "American Roentgen Ray Society",
number = "6",

}

TY - JOUR

T1 - Schwannomatosis

T2 - The overlooked neurofibromatosis?

AU - Koontz, Nicholas A.

AU - Wiens, Andrea L.

AU - Agarwal, Atul

AU - Hingtgen, Cynthia M.

AU - Emerson, Robert

AU - Mosier, Kristine

PY - 2013/6

Y1 - 2013/6

N2 - OBJECTIVE. Schwannomas are typically benign tumors that occur sporadically, in neurofibromatosis type 2 (NF2), or in an entity called " schwannomatosis." Schwannomatosis patients develop multiple schwannomas without involvement of the vestibular apparatus. Geneticists, neurologists, and pathologists have recognized that schwannomatosis is distinct from NF2, but schwannomatosis remains unfamiliar to many radiologists. This article reviews the current medical literature, highlighting the similarities and differences between the schwannomatosis and NF2 phenotypes, genotypes, clinical manifestations, management considerations, and imaging findings. CONCLUSION. Imaging plays a critical role in diagnosing schwannomatosis, and a basic understanding of this syndrome is of interest to diagnostic radiologists. Moreover, it is imperative that radiologists be able to differentiate schwannomatosis from NF2 on imaging because there are significant differences in the management of these two diseases and clinical outcomes for affected patients.

AB - OBJECTIVE. Schwannomas are typically benign tumors that occur sporadically, in neurofibromatosis type 2 (NF2), or in an entity called " schwannomatosis." Schwannomatosis patients develop multiple schwannomas without involvement of the vestibular apparatus. Geneticists, neurologists, and pathologists have recognized that schwannomatosis is distinct from NF2, but schwannomatosis remains unfamiliar to many radiologists. This article reviews the current medical literature, highlighting the similarities and differences between the schwannomatosis and NF2 phenotypes, genotypes, clinical manifestations, management considerations, and imaging findings. CONCLUSION. Imaging plays a critical role in diagnosing schwannomatosis, and a basic understanding of this syndrome is of interest to diagnostic radiologists. Moreover, it is imperative that radiologists be able to differentiate schwannomatosis from NF2 on imaging because there are significant differences in the management of these two diseases and clinical outcomes for affected patients.

KW - Congenital neurilemmomatosis

KW - Neurilemmoma

KW - Neurofibromatosis

KW - Peripheral nerve sheath tumor

KW - Schwannoma

KW - Schwannomatosis

UR - http://www.scopus.com/inward/record.url?scp=84880970619&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84880970619&partnerID=8YFLogxK

U2 - 10.2214/AJR.12.8577

DO - 10.2214/AJR.12.8577

M3 - Article

VL - 200

JO - American Journal of Roentgenology

JF - American Journal of Roentgenology

SN - 0361-803X

IS - 6

ER -