PMID- 33522711
OWN - NLM
STAT- MEDLINE
DCOM- 20220204
LR  - 20220902
IS  - 1755-148X (Electronic)
IS  - 1755-1471 (Print)
IS  - 1755-1471 (Linking)
VI  - 34
IP  - 5
DP  - 2021 Sep
TI  - Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring 
      chromosome 7 syndrome.
PG  - 987-993
LID - 10.1111/pcmr.12963 [doi]
AB  - Patients with non-supernumerary ring chromosome 7 syndrome have an increased 
      incidence of hemangiomas, cafe-au-lait spots, and melanocytic nevi. The mechanism 
      for the increased incidence of these benign neoplasms is unknown. We present the 
      case of a 22-year-old man with ring chromosome 7 and multiple melanocytic nevi. 
      Two nevi, one on the right ear and the other on the right knee, were biopsied and 
      diagnosed as desmoplastic Spitz nevi. Upon targeted next-generation DNA 
      sequencing, both harbored BRAF fusions. Copy number alterations and fluorescence 
      in situ hybridization (FISH) for BRAF suggested that the fusions arose on the 
      ring chromosome 7. Hence, one reason for increased numbers of nevi in patients 
      with non-supernumerary ring chromosome 7 syndrome may be increased likelihood of 
      BRAF fusions, due to the instability of the ring chromosome.
CI  - (c) 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Roy, Simon F
AU  - Roy SF
AUID- ORCID: 0000-0002-5444-0349
AD  - Department of Pathology, University of Montreal, Montreal, OC, Canada.
FAU - Bastian, Boris C
AU  - Bastian BC
AUID- ORCID: 0000-0003-1836-6062
AD  - Department of Dermatology, University of California in San Francisco, San 
      Francisco, CA, USA.
AD  - Department of Pathology, University of California in San Francisco, San 
      Francisco, CA, USA.
FAU - Maguiness, Sheilagh
AU  - Maguiness S
AD  - Department of Dermatology, University of Minnesota, Minneapolis, MN, USA.
FAU - Giubellino, Alessio
AU  - Giubellino A
AD  - Department of Laboratory Medicine and Pathology, University of Minnesota, 
      Minneapolis, MN, USA.
FAU - Vemula, Swapna S
AU  - Vemula SS
AD  - Department of Pathology, University of California in San Francisco, San 
      Francisco, CA, USA.
FAU - McCalmont, Timothy H
AU  - McCalmont TH
AD  - Department of Dermatology, University of California in San Francisco, San 
      Francisco, CA, USA.
AD  - Department of Pathology, University of California in San Francisco, San 
      Francisco, CA, USA.
FAU - Yeh, Iwei
AU  - Yeh I
AUID- ORCID: 0000-0002-3941-3561
AD  - Department of Dermatology, University of California in San Francisco, San 
      Francisco, CA, USA.
AD  - Department of Pathology, University of California in San Francisco, San 
      Francisco, CA, USA.
LA  - eng
GR  - R35 CA220481/CA/NCI NIH HHS/United States
PT  - Case Reports
PT  - Research Support, N.I.H., Extramural
DEP - 20210317
PL  - England
TA  - Pigment Cell Melanoma Res
JT  - Pigment cell & melanoma research
JID - 101318927
RN  - 0 (Oncogene Proteins, Fusion)
RN  - EC 2.7.11.1 (BRAF protein, human)
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
RN  - Chromosome 7 ring syndrome
SB  - IM
MH  - Adult
MH  - *Chromosome Disorders/genetics/metabolism
MH  - Chromosomes, Human, Pair 7/genetics/metabolism/physiology
MH  - *Ear Neoplasms/genetics/metabolism/pathology
MH  - Humans
MH  - Male
MH  - *Nevus, Epithelioid and Spindle Cell/genetics/metabolism/pathology
MH  - *Oncogene Proteins, Fusion/genetics/metabolism
MH  - *Proto-Oncogene Proteins B-raf/genetics/metabolism
MH  - *Ring Chromosomes
MH  - *Skin Neoplasms/genetics/metabolism/pathology
PMC - PMC9351601
MID - NIHMS1818813
OTO - NOTNLM
OT  - BRAF fusion
OT  - BRAF gene
OT  - Spitz nevus
OT  - Spitz tumor
OT  - melanocytic nevi
OT  - melanocytic nevus
OT  - ring chromosome 7
OT  - ring chromosome seven
OT  - spitzoid
COIS- Conflicts of Interest: The authors declare no potential conflicts of interest 
      with respect to the research, authorship, and/or publication of this article.
EDAT- 2021/02/02 06:00
MHDA- 2022/02/05 06:00
PMCR- 2022/09/01
CRDT- 2021/02/01 08:48
PHST- 2021/01/04 00:00 [revised]
PHST- 2020/10/22 00:00 [received]
PHST- 2021/01/25 00:00 [accepted]
PHST- 2021/02/02 06:00 [pubmed]
PHST- 2022/02/05 06:00 [medline]
PHST- 2021/02/01 08:48 [entrez]
PHST- 2022/09/01 00:00 [pmc-release]
AID - 10.1111/pcmr.12963 [doi]
PST - ppublish
SO  - Pigment Cell Melanoma Res. 2021 Sep;34(5):987-993. doi: 10.1111/pcmr.12963. Epub 
      2021 Mar 17.