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