Table 2: Clinical features,
immunohistochemistry, and molecular analysis of 14 patients with cutaneous LCH;
CNS, central nervous system; GI, gastrointestinal; V600E mutation in BRAF with resultant amino acid change;
NT, not tested due to insufficient residual tissue. Statistical analysis included only the first
observation/specimen for each patient, and concurrent systemic (other organ
system) involvement at the time the earliest biopsy was performed. In some cases, involvement of other organ
systems occurred after the index biopsy.
Patient |
Age
(yr) |
Sex |
Ethnicity |
Cutaneous
site |
Other Organ Systems
Involved (at any time) |
BRAF
IHC |
BRAF
PCR/Seq |
Outcome |
|||
Bone |
CNS |
GI |
Lung |
||||||||
1 |
1 |
F |
Caucasian |
Arm |
|
|
X |
X |
Positive |
Wild-type |
Died
of disease |
2 |
1 |
M |
Kuwaiti |
Scalp |
X |
|
|
Positive |
Wild-type |
Alive
without disease |
|
3 |
2 |
M |
Caucasian |
Chest,
abdomen† |
X |
|
|
Positive |
Wild-type |
Alive
without disease |
|
4 |
2 |
M |
Caucasian |
Scalp
x2† |
X |
X |
|
Positive |
V600E+* |
Alive
without disease |
|
5 |
12 |
M |
Caucasian |
Scalp |
|
X |
|
Negative |
NT |
Alive
without disease |
|
6 |
21 |
F |
Caucasian |
Labia
minora |
|
X |
|
Positive |
NT |
Lost
to follow up |
|
7 |
37 |
F |
Caucasian |
Scalp |
|
X |
|
X |
Negative |
NT |
Lost
to follow up |
8 |
39 |
F |
Caucasian |
Leg |
X |
|
|
X |
Positive |
NT |
Alive
without disease |
9 |
39 |
M |
Caucasian |
Chest |
|
X |
|
X |
Negative |
NT |
Alive
without disease |
10 |
38 |
M |
Caucasian |
Scalp,
Perianal x3† |
X |
X |
|
X |
Positive |
NT |
Alive
with disease |
11 |
46 |
M |
Caucasian |
Ankle |
X |
|
|
Negative |
NT |
Lost
to follow up |
|
12 |
47 |
F |
African
American |
Axilla |
|
X |
|
Negative |
NT |
Lost
to follow up |
|
13 |
68 |
F |
Caucasian |
Back |
|
|
X |
X |
Positive |
Wild-type |
Unrelated
death |
14 |
78 |
M |
Caucasian |
Chest,
abdomen† |
X |
|
|
Positive |
NT |
Unrelated
death |
†Multiple cutaneous
biopsies were tested in 4 patients; Age listed for these patients is age at
which the earliest biopsy was performed/obtained; All
biopsies were IHC-positive in these patients
*Additional scalp
specimen from patient #4 failed PCR/pyrosequencing