The new england journal of medicine
n engl j med 374;10 nejm.org March 10, 2016 994
To the Editor: In their study, Shain et al. inves-
tigated the genetic evolution of melanoma from
presumed precursor lesions and evaluated mor-
phologically intermediate lesions, which have a
higher mutational burden than do benign lesions.
The authors suggest that these intermediate le-
sions have previously been termed “dysplastic”
(citing dysplastic nevi as the example), but most
dysplastic nevi are stable and never progress.
1
More robust linkage between melanomas and
potential precursors may involve fields of atypi-
cal junctional melanocytes that occur in chroni-
cally sun-damaged skin and frequently surround
fully excised melanomas. The melanocytes form-
ing these fields do not qualify histologically for a
designation of melanoma, but we have found
them to be defective in the level of the epigenetic
mark 5-hydroxymethylcytosine (Fig. 1), and this
defect has been shown to correlate functionally
with melanoma growth (in an in vivo model)
2
and
with features of melanocytic dysplasia.
3
Fields of
atypical melanocytes are also relevant to previous
research by Bastian et al., in which occult cells
harboring genetic amplifications were identified
in the epidermis adjacent to acral melanomas.
4
Future studies that seek to define intermediate
lesions as potential melanoma precursors should
focus on both epigenetic and genetic analyses of
such proliferations.
Christine G. Lian, M.D.
George F. Murphy, M.D.
Brigham and Women’s Hospital
Boston, MA
No potential conflict of interest relevant to this letter was re-
ported.
Figure 1. Atypical Skin Melanocytes with Loss of Epigenetic Mark 5-Hydroxymethylcytosine.
Panel A shows hematoxylin and eosin staining of a field in which melanoma arose; hyperplasia of cytologically atypical melanocytes is
visible (arrows). Panel B shows dual-label immunofluorescence staining of a sample of human skin that contains cytologically normal
melanocytes (left), which are positive for MART-1 (melanoma-associated antigen recognized by T cells; green) and have uniform stain-
ing for nuclear 5-hydroxymethylcytosine (red); a sample of human skin with long-term exposure to ultraviolet light (right) shows loss of
5-hydroxymethylcytosine, a finding that is characteristic of atypical melanocytes. The insets show the samples at high magnification.
Panel C shows dual-label immunohistochemical staining of a sample of human skin that contains cytologically normal melanocytes,
which are positive for MART-1 (blue) and have uniform, strong staining for nuclear 5-hydroxymethylcytosine (brown), whereas Panels D
and E show adjacent enlarged, atypical melanocytes (arrows) that have partial loss (Panel D) or complete loss (Panel E) of 5-hydroxy-
methylcytosine.
A C
D
E
B
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