A Case of Sinonasal Melanoma With Unusual Primary Exon 17 KIT D820G Mutation

Emanuela Pilozzi, Armando Bartolazzi, Flavio Fochetti, Enrico Duranti, Stefania Scarpino, Maurizio Valeriani, Piero Moriconi, Luigi Ruco

Research output: Contribution to journalArticle

  • 1 Citations

Abstract

Sinonasal melanomas are rare neoplasms with poor prognosis that may harbor KIT and NRAS genes mutations. Molecular alterations represent possible targets of tailored therapeutic approaches. We describe the case of a 74-year-old patient with primary melanoma of the nasal cavity. Mutational analysis of KIT demonstrated a point missense mutation D820G in exon 17. This represents, to our knowledge, the first case of sinonasal melanoma harboring this specific KIT mutation. Although KIT mutations confer sensibility to thyrosine-kinase inhibitor, it has been proved that this is strongly dependent on the region in which this alteration occurs. Thus it seems very important to perform an accurate gene mutational analysis to provide a biological rationale to the tailored therapy.

Original languageEnglish
JournalApplied Immunohistochemistry and Molecular Morphology
DOIs
StateAccepted/In press - 5 May 2016
Externally publishedYes

Fingerprint

Exons
Melanoma
Mutation
Genes
Nasal Cavity
Missense Mutation
Point Mutation
Phosphotransferases
Neoplasms

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology
  • Histology

Cite this

A Case of Sinonasal Melanoma With Unusual Primary Exon 17 KIT D820G Mutation. / Pilozzi, Emanuela; Bartolazzi, Armando; Fochetti, Flavio; Duranti, Enrico; Scarpino, Stefania; Valeriani, Maurizio; Moriconi, Piero; Ruco, Luigi.

In: Applied Immunohistochemistry and Molecular Morphology, 05.05.2016.

Research output: Contribution to journalArticle

Pilozzi, Emanuela; Bartolazzi, Armando; Fochetti, Flavio; Duranti, Enrico; Scarpino, Stefania; Valeriani, Maurizio; Moriconi, Piero; Ruco, Luigi / A Case of Sinonasal Melanoma With Unusual Primary Exon 17 KIT D820G Mutation.

In: Applied Immunohistochemistry and Molecular Morphology, 05.05.2016.

Research output: Contribution to journalArticle

@article{4877f45174fb402c87ec218cef341d05,
title = "A Case of Sinonasal Melanoma With Unusual Primary Exon 17 KIT D820G Mutation",
abstract = "Sinonasal melanomas are rare neoplasms with poor prognosis that may harbor KIT and NRAS genes mutations. Molecular alterations represent possible targets of tailored therapeutic approaches. We describe the case of a 74-year-old patient with primary melanoma of the nasal cavity. Mutational analysis of KIT demonstrated a point missense mutation D820G in exon 17. This represents, to our knowledge, the first case of sinonasal melanoma harboring this specific KIT mutation. Although KIT mutations confer sensibility to thyrosine-kinase inhibitor, it has been proved that this is strongly dependent on the region in which this alteration occurs. Thus it seems very important to perform an accurate gene mutational analysis to provide a biological rationale to the tailored therapy.",
author = "Emanuela Pilozzi and Armando Bartolazzi and Flavio Fochetti and Enrico Duranti and Stefania Scarpino and Maurizio Valeriani and Piero Moriconi and Luigi Ruco",
year = "2016",
month = "5",
doi = "10.1097/PAI.0000000000000346",
journal = "Applied Immunohistochemistry and Molecular Morphology",
issn = "1541-2016",
publisher = "Lippincott Williams and Wilkins",

}

TY - JOUR

T1 - A Case of Sinonasal Melanoma With Unusual Primary Exon 17 KIT D820G Mutation

AU - Pilozzi,Emanuela

AU - Bartolazzi,Armando

AU - Fochetti,Flavio

AU - Duranti,Enrico

AU - Scarpino,Stefania

AU - Valeriani,Maurizio

AU - Moriconi,Piero

AU - Ruco,Luigi

PY - 2016/5/5

Y1 - 2016/5/5

N2 - Sinonasal melanomas are rare neoplasms with poor prognosis that may harbor KIT and NRAS genes mutations. Molecular alterations represent possible targets of tailored therapeutic approaches. We describe the case of a 74-year-old patient with primary melanoma of the nasal cavity. Mutational analysis of KIT demonstrated a point missense mutation D820G in exon 17. This represents, to our knowledge, the first case of sinonasal melanoma harboring this specific KIT mutation. Although KIT mutations confer sensibility to thyrosine-kinase inhibitor, it has been proved that this is strongly dependent on the region in which this alteration occurs. Thus it seems very important to perform an accurate gene mutational analysis to provide a biological rationale to the tailored therapy.

AB - Sinonasal melanomas are rare neoplasms with poor prognosis that may harbor KIT and NRAS genes mutations. Molecular alterations represent possible targets of tailored therapeutic approaches. We describe the case of a 74-year-old patient with primary melanoma of the nasal cavity. Mutational analysis of KIT demonstrated a point missense mutation D820G in exon 17. This represents, to our knowledge, the first case of sinonasal melanoma harboring this specific KIT mutation. Although KIT mutations confer sensibility to thyrosine-kinase inhibitor, it has been proved that this is strongly dependent on the region in which this alteration occurs. Thus it seems very important to perform an accurate gene mutational analysis to provide a biological rationale to the tailored therapy.

UR - http://www.scopus.com/inward/record.url?scp=84965048123&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84965048123&partnerID=8YFLogxK

U2 - 10.1097/PAI.0000000000000346

DO - 10.1097/PAI.0000000000000346

M3 - Article

JO - Applied Immunohistochemistry and Molecular Morphology

T2 - Applied Immunohistochemistry and Molecular Morphology

JF - Applied Immunohistochemistry and Molecular Morphology

SN - 1541-2016

ER -