Histiocytosis

Question 1

risk factor for pulmonary LCH in adults

Answer 1

cigarette smoking

Question 2

langerhans cell antigen expression

Answer 2

surface CD1a, CD207

Question 3

langerhands cell electron microscopy finding

Answer 3

birbeck granules

Question 4

what mutation is characteristic of LCH?

Answer 4

BRAF V600E - found in 50-60% of LCH patients

Question 5

hormones of anterior pituitary

Answer 5

FLAT PeG:
FSH
LH
ACTH
TSH
prolactin
GH

Question 6

hormones of posterior pituitary

Answer 6

oxytocin

ADH

Question 7

what is the name of the model of LCH pathogenesis and significance

Answer 7

the misguided myeloid dendritic cell model

the stage at which pathologic ERK activation arises determines the clinical manifestations of LCH

Question 8

what is prognosis of LCH patients dependant upon

Answer 8

• response to therapy
• number of organs involved
• organ dysfunction

Question 9

what are LCH risk organs

Answer 9

bone marrow
liver
lung
spleen

Question 10

what therapy would you suggest for a patient with disseminated LCH (high-risk) based on the trial LCHIII

Answer 10

1 year of treatment with vinblastine / prednisone / mercaptopurine

Question 11

ddx thickened pituitary stalk and DI

Answer 11

• LCH
• germ cell tumour
• lymphoma

Question 12

mutations causing primary HLH

Answer 12

PRF1 / perforin
syntaxin 11
syntaxin binding protein 2
uncoordinated protein family mutations (UNC13D)

Question 13

immunodeficiency syndromes at increased risk of primary HLH and their gene defects

Answer 13

Chediak-Higashi (LYST/CHS1)
Griscelli (RAB27A)
X-linked lymphoprolif disease (SH2D1A)
XMEN (loss of function in Mg transporter 1 - MAGT1)
Hermanski-Pudlak (HPS1,3,4,5 etc)
CGD