PMID- 33217002
OWN - NLM
STAT- MEDLINE
DCOM- 20211126
LR  - 20211126
IS  - 1600-0560 (Electronic)
IS  - 0303-6987 (Linking)
VI  - 48
IP  - 7
DP  - 2021 Jul
TI  - Spindle cell variant of epithelioid cell histiocytoma (spindle cell histiocytoma) 
      with ALK gene fusions: Cases series and review of the literature.
PG  - 837-841
LID - 10.1111/cup.13923 [doi]
AB  - BACKGROUND: Epithelioid fibrous histiocytoma (EFH) is an uncommon dermal neoplasm 
      expressing anaplastic lymphoma kinase (ALK) protein. Rarely a histopathological 
      variant of this entity exhibits exclusively spindle cells. We report three cases 
      of EFH that do not completely fulfill phenotypic criteria featuring spindle cell 
      morphology and expressing ALK protein. We also analyze the fusion partner genes 
      rearranged with ALK in these cases. METHODS: ALK expression and rearrangement 
      status were evaluated by immunohistochemistry (IHC), fluorescence in situ 
      hybridization (FISH), and next generation sequencing based gene fusion analysis. 
      RESULTS: Three cases, all from females between 25 and 55 years old, have been 
      biopsied from back, left arm, and thumb. All three cases showed tumor with 
      exclusively spindle cell morphology without any epithelioid cells. The tumor 
      cells exhibited strong ALK expression by IHC and FISH study confirmed ALK gene 
      rearrangement in all three cases. DCTN1-ALK fusion was identified in two cases. 
      CONCLUSION: EFH is not always purely epithelioid and its spindled cell variant, 
      spindle cell histiocytoma, should be included in the differential diagnosis of 
      superficial dermal spindled cell neoplasms. ALK immunostain is a useful 
      diagnostic marker for this entity and further studies may be useful to 
      investigate whether DCTN1-ALK fusion mutations are specific to EFH with spindled 
      cell features.
CI  - (c) 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Kazlouskaya, Viktoryia
AU  - Kazlouskaya V
AUID- ORCID: 0000-0002-5354-0831
AD  - Department of Dermatopathology, University of Pittsburgh, Pittsburgh, 
      Pennsylvania, USA.
FAU - Ho, Jonhan
AU  - Ho J
AD  - Department of Dermatopathology, University of Pittsburgh, Pittsburgh, 
      Pennsylvania, USA.
FAU - Jedrych, Jaroslaw
AU  - Jedrych J
AUID- ORCID: 0000-0003-2385-7085
AD  - Department of Dermatology, The Johns Hopkins School of Medicine, Baltimore, 
      Maryland, USA.
FAU - Karunamurthy, Arivarasan
AU  - Karunamurthy A
AD  - Department of Dermatopathology, University of Pittsburgh, Pittsburgh, 
      Pennsylvania, USA.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20201211
PL  - United States
TA  - J Cutan Pathol
JT  - Journal of cutaneous pathology
JID - 0425124
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (DCTN1 protein, human)
RN  - 0 (Dynactin Complex)
RN  - EC 2.7.10.1 (ALK protein, human)
RN  - EC 2.7.10.1 (Anaplastic Lymphoma Kinase)
SB  - IM
MH  - Adult
MH  - Anaplastic Lymphoma Kinase/*genetics
MH  - Biomarkers, Tumor/metabolism
MH  - Biopsy
MH  - Diagnosis, Differential
MH  - Dynactin Complex/genetics
MH  - Epithelioid Cells/*pathology
MH  - Female
MH  - Gene Fusion/genetics
MH  - High-Throughput Nucleotide Sequencing/methods
MH  - Histiocytoma/diagnosis/*genetics/ultrastructure
MH  - Histiocytoma, Benign Fibrous/diagnosis/*genetics/ultrastructure
MH  - Humans
MH  - Immunohistochemistry/methods
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Middle Aged
MH  - Neoplasms, Fibrous Tissue/pathology
OTO - NOTNLM
OT  - ALK fusion
OT  - dermatofibroma
OT  - epithelioid cell histiocytoma
OT  - epithelioid fibrous histiocytoma
OT  - fibrous histiocytoma
EDAT- 2020/11/21 06:00
MHDA- 2021/11/27 06:00
CRDT- 2020/11/20 17:16
PHST- 2020/11/03 00:00 [revised]
PHST- 2020/06/02 00:00 [received]
PHST- 2020/11/16 00:00 [accepted]
PHST- 2020/11/21 06:00 [pubmed]
PHST- 2021/11/27 06:00 [medline]
PHST- 2020/11/20 17:16 [entrez]
AID - 10.1111/cup.13923 [doi]
PST - ppublish
SO  - J Cutan Pathol. 2021 Jul;48(7):837-841. doi: 10.1111/cup.13923. Epub 2020 Dec 11.