Desmoplastic melanoma with sarcomatoid dedifferentiation

Maija Ht Kiuru, Gregory Mcdermott, Michael Berger, Allan C. Halpern, Klaus J. Busam

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Desmoplastic melanoma (DM) is a variant of melanoma, which typically affects chronically sun-damaged skin of elderly patients. Pure DM displays a low density of fusiform melanocytes in a collagen-rich matrix. In mixed DM, tumor cell density is higher, and parts of the tumor lack abundant stromal fibrosis. Both pure and mixed DMs usually express S100 protein homogenously. We report herein an unusual biphenotypic tumor characterized by the association of a pure DM with an undifferentiated solid spindle cell nodule. It occurred on the scalp of a 66-year-old man. A biopsy of the undifferentiated spindle cell nodule was initially interpreted at a commercial laboratory as atypical fibroxanthoma. The pure DM was seen only in the excisional specimen. All cells of the pure DM stained for S100 protein and SOX10. The adjacent solid sarcomatoid spindle cell nodule lacked expression of S100 protein, SOX10, as well as melan-A, gp100, and microphthalmia-associated transcription factor in >95% of its tumor cells. Although focal expression of melanocyte differentiation antigens in the solid tumor component made us favor a combined DM with sarcomatoid dedifferentiation, we also considered the possibility of a collision scenario, that is, a pleomorphic dermal sarcoma incidentally colliding with a DM. To further assess a possible relationship of the sarcomatoid nodule with the DM, we performed next-generation sequencing analysis on each component separately. The analysis revealed shared chromosomal copy number changes and a high number of common mutations, thereby supporting the concept of a DM with a dedifferentiated sarcomatoid component. An interesting finding is the presence of mutations of the neurofibromin 1 (NF1) gene in both tumor components.

Original languageEnglish (US)
Pages (from-to)864-870
Number of pages7
JournalAmerican Journal of Surgical Pathology
Volume38
Issue number6
DOIs
StatePublished - 2014
Externally publishedYes

Fingerprint

Melanoma
S100 Proteins
Neoplasms
Melanocytes
Neurofibromin 1
Microphthalmia-Associated Transcription Factor
MART-1 Antigen
Skin
Mutation
Differentiation Antigens
Solar System
Scalp
Sarcoma
Fibrosis
Collagen
Cell Count
Biopsy

Keywords

  • Biphenotypic tumor
  • Desmoplastic melanoma
  • Next-generation sequencing
  • Sarcoma

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery

Cite this

Desmoplastic melanoma with sarcomatoid dedifferentiation. / Kiuru, Maija Ht; Mcdermott, Gregory; Berger, Michael; Halpern, Allan C.; Busam, Klaus J.

In: American Journal of Surgical Pathology, Vol. 38, No. 6, 2014, p. 864-870.

Research output: Contribution to journalArticle

Kiuru, Maija Ht ; Mcdermott, Gregory ; Berger, Michael ; Halpern, Allan C. ; Busam, Klaus J. / Desmoplastic melanoma with sarcomatoid dedifferentiation. In: American Journal of Surgical Pathology. 2014 ; Vol. 38, No. 6. pp. 864-870.
@article{8aab5ad99f5f4de2b0a6846ccc5d3fc6,
title = "Desmoplastic melanoma with sarcomatoid dedifferentiation",
abstract = "Desmoplastic melanoma (DM) is a variant of melanoma, which typically affects chronically sun-damaged skin of elderly patients. Pure DM displays a low density of fusiform melanocytes in a collagen-rich matrix. In mixed DM, tumor cell density is higher, and parts of the tumor lack abundant stromal fibrosis. Both pure and mixed DMs usually express S100 protein homogenously. We report herein an unusual biphenotypic tumor characterized by the association of a pure DM with an undifferentiated solid spindle cell nodule. It occurred on the scalp of a 66-year-old man. A biopsy of the undifferentiated spindle cell nodule was initially interpreted at a commercial laboratory as atypical fibroxanthoma. The pure DM was seen only in the excisional specimen. All cells of the pure DM stained for S100 protein and SOX10. The adjacent solid sarcomatoid spindle cell nodule lacked expression of S100 protein, SOX10, as well as melan-A, gp100, and microphthalmia-associated transcription factor in >95{\%} of its tumor cells. Although focal expression of melanocyte differentiation antigens in the solid tumor component made us favor a combined DM with sarcomatoid dedifferentiation, we also considered the possibility of a collision scenario, that is, a pleomorphic dermal sarcoma incidentally colliding with a DM. To further assess a possible relationship of the sarcomatoid nodule with the DM, we performed next-generation sequencing analysis on each component separately. The analysis revealed shared chromosomal copy number changes and a high number of common mutations, thereby supporting the concept of a DM with a dedifferentiated sarcomatoid component. An interesting finding is the presence of mutations of the neurofibromin 1 (NF1) gene in both tumor components.",
keywords = "Biphenotypic tumor, Desmoplastic melanoma, Next-generation sequencing, Sarcoma",
author = "Kiuru, {Maija Ht} and Gregory Mcdermott and Michael Berger and Halpern, {Allan C.} and Busam, {Klaus J.}",
year = "2014",
doi = "10.1097/PAS.0000000000000201",
language = "English (US)",
volume = "38",
pages = "864--870",
journal = "American Journal of Surgical Pathology",
issn = "0147-5185",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

TY - JOUR

T1 - Desmoplastic melanoma with sarcomatoid dedifferentiation

AU - Kiuru, Maija Ht

AU - Mcdermott, Gregory

AU - Berger, Michael

AU - Halpern, Allan C.

AU - Busam, Klaus J.

PY - 2014

Y1 - 2014

N2 - Desmoplastic melanoma (DM) is a variant of melanoma, which typically affects chronically sun-damaged skin of elderly patients. Pure DM displays a low density of fusiform melanocytes in a collagen-rich matrix. In mixed DM, tumor cell density is higher, and parts of the tumor lack abundant stromal fibrosis. Both pure and mixed DMs usually express S100 protein homogenously. We report herein an unusual biphenotypic tumor characterized by the association of a pure DM with an undifferentiated solid spindle cell nodule. It occurred on the scalp of a 66-year-old man. A biopsy of the undifferentiated spindle cell nodule was initially interpreted at a commercial laboratory as atypical fibroxanthoma. The pure DM was seen only in the excisional specimen. All cells of the pure DM stained for S100 protein and SOX10. The adjacent solid sarcomatoid spindle cell nodule lacked expression of S100 protein, SOX10, as well as melan-A, gp100, and microphthalmia-associated transcription factor in >95% of its tumor cells. Although focal expression of melanocyte differentiation antigens in the solid tumor component made us favor a combined DM with sarcomatoid dedifferentiation, we also considered the possibility of a collision scenario, that is, a pleomorphic dermal sarcoma incidentally colliding with a DM. To further assess a possible relationship of the sarcomatoid nodule with the DM, we performed next-generation sequencing analysis on each component separately. The analysis revealed shared chromosomal copy number changes and a high number of common mutations, thereby supporting the concept of a DM with a dedifferentiated sarcomatoid component. An interesting finding is the presence of mutations of the neurofibromin 1 (NF1) gene in both tumor components.

AB - Desmoplastic melanoma (DM) is a variant of melanoma, which typically affects chronically sun-damaged skin of elderly patients. Pure DM displays a low density of fusiform melanocytes in a collagen-rich matrix. In mixed DM, tumor cell density is higher, and parts of the tumor lack abundant stromal fibrosis. Both pure and mixed DMs usually express S100 protein homogenously. We report herein an unusual biphenotypic tumor characterized by the association of a pure DM with an undifferentiated solid spindle cell nodule. It occurred on the scalp of a 66-year-old man. A biopsy of the undifferentiated spindle cell nodule was initially interpreted at a commercial laboratory as atypical fibroxanthoma. The pure DM was seen only in the excisional specimen. All cells of the pure DM stained for S100 protein and SOX10. The adjacent solid sarcomatoid spindle cell nodule lacked expression of S100 protein, SOX10, as well as melan-A, gp100, and microphthalmia-associated transcription factor in >95% of its tumor cells. Although focal expression of melanocyte differentiation antigens in the solid tumor component made us favor a combined DM with sarcomatoid dedifferentiation, we also considered the possibility of a collision scenario, that is, a pleomorphic dermal sarcoma incidentally colliding with a DM. To further assess a possible relationship of the sarcomatoid nodule with the DM, we performed next-generation sequencing analysis on each component separately. The analysis revealed shared chromosomal copy number changes and a high number of common mutations, thereby supporting the concept of a DM with a dedifferentiated sarcomatoid component. An interesting finding is the presence of mutations of the neurofibromin 1 (NF1) gene in both tumor components.

KW - Biphenotypic tumor

KW - Desmoplastic melanoma

KW - Next-generation sequencing

KW - Sarcoma

UR - http://www.scopus.com/inward/record.url?scp=84900840963&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84900840963&partnerID=8YFLogxK

U2 - 10.1097/PAS.0000000000000201

DO - 10.1097/PAS.0000000000000201

M3 - Article

C2 - 24618614

AN - SCOPUS:84900840963

VL - 38

SP - 864

EP - 870

JO - American Journal of Surgical Pathology

JF - American Journal of Surgical Pathology

SN - 0147-5185

IS - 6

ER -