Histiocytic disorders Flashcards Preview

SADL Oncology > Histiocytic disorders > Flashcards

Flashcards in Histiocytic disorders Deck (5):
1

LCH

Name high risk organs

Name CNS risk lesions

High risk organs: liver, bone marrow, spleen
-mortality 10%

CNS risk lesions: front of face, skull base and pituitary
- Single agent/no treatment has 40% risk. 20% if treated with systemic therapy

2

Clinical manifestations that are suggestive of LCH

- vertebral plana
- floating teeth
- otitis externa with purulent drainage
- interstitial pattern with cysts and nodules with spontaneous pneumothorax
- diabetes insipidus
- hypoalbuminemia

3

Immunophenotype
- LCH
- ECD
- RDD

LCH: CD1a+ CD 207+ birbeck granules

ECD: CD 68+ CD163+ CD1a-

RDD: Emperipolesis, S100+ fascin+ CD68++ CD14+ CD163+ CD1a/207-

4

HLH Diagnostic criteria

5 out of 8
- fever
- splenomegaly
- cytopenias (2 lines)
- hypertriglyceridemias and/or hypofibrinogenemia
- hemophagocytosis
- ferritin > 500
- Elevated IL-2 R > 2400
-Decreased NK cell activity
OR
Gene mutation

5

Major genetic mutations in HLH and associated syndromes

Perforin
Munc 13.4
Syntaxin 11 (STX11)
Syntaxin binding protein 2 (STXBP2)

LYST - Chediak Higashi
Rab27a - Griscelli
AP3B1 - Hermansky Pudlak2

XLP1 - SAP
XLP2 - BIRC4