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Table 3 CNS-JXG cases with BRAF V600E status and pathologic correlation

From: BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease

Case

BRAF V600E Status

BRAF DNA

BRAFVE1 IHC

Morphology

CD163

CD68

CD14

Factor XIIIa

Fascin

S100

CD1a

Ki-67

1

Mutated

POS

POS

Xanthomatous

na

Y

na

na

na

na

N

na

2

Mutated

POS

POS

Foamy/finely vacuolated to epithelioid, mild atypia, Touton-like GC, glial/fibrosis

Y

Y

Y

Y

Y

N

N

3%

3*

Mutated

POS

POS

Foamy/finely vacuolated with intermixed xanthomatous and Touton GC

Y

Y

Y

Y

Y

N

N

1%

4

Mutated

NA

POS

Foamy/finely vacuolated with xanthomatous, and intermixed glial/fibrosis

na

Y

Y

Y (variable)

Y

Y (light, few RDD like cells w emperipolesis

N

na

5

Mutated

POS

POS

Foamy/finely vacuolated, with xanthomatous, and intermixed glial/fibrosis

Y

na

Y

Y

Y (light)

Y (very focal and light, focal cells w emperipolesis

N

na

6**

Wild-type

NEG

NEG

Monomorphic small epithelioid cell with MNGC but not Touton type, mild pleomorphism, focal central necrosis, increased mitoses

Y

Y

Y

Y

Y

N

N

15%

7

Wild-type

NA

NEG

Monomorphic small epithelioid cell to finely vacuolated individual cell necrosis

Y

Y

Y

Y (focal)

Y (focal)

Y

N (rare small cell pos)

15%

8^

Wild-type

NA

NEG

Foamy/finely vacuolated, spindled, glial/fibrosis, rare Touton GC and rare emperipolesis in non-RDD like cells (cauterized) growth around Nerve trunks

Y

Y

Y

Y (light)

Y

N

N

5–10%

9

Wild-type

NA

NEG

Plump/finely vacuolated, with fibrous bands, and high inflammation with mild pleomorphism and Touton GC emperipolesis

Y

Y

Y

Y (light in RDD, dark intermixed)

Y

Y (light in RDD like cells)

N

na

10

Wild-type

NA

NEG

Focally xanthomatous (dural), but mostly monotonous intermediate sized finely vacuolated to epithelioid Touton-like GCs, rare emperipolesis but in non-RDD cell, admixed lymphocytic inflammation

Y

Y

na

Y

na

N

N

na

  1. Legend: Y = yes expression of listed immunostain; N = no expression; NA-not available, MNGC = multinucleated giant cells; RDD-Rosai-Dorfman Destombes Disease (Definition of RDD-like cells: cell with either emperipolesis and/or S100 expression but do not confirm in totality to RDD, either by non-diagnostic cytomorphology features or only single scattered cells without cluster/aggregates)
  2. *Consult cases with subsequent published results: *Ref 16 (Diamond et al. Blood 2016). ^Ref 55 (Tamir et al. J Clin Neurosci 2013). **Ref 57 (Tittman et al. Otolaryngology Case Reports 2019)