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Flashcards in Histiocytic disorders Deck (15)
1

What is the diagnostic work up for LCH?

- CBC
- Liver function tests; abdo US if abnormal
- Chest X-R (CT-scan if pulmonary abnormalities)
- Skeletal survey, PET-scan
- Specific gravity on morning urine sample
- MRI of the head if Sx or DI
- Bone marrow if abnormal CBC
- Biopsies of involved lesions if needed

2

Which organs are considered high risk in LCH?

- Spleen
- Liver
- Bone marrow

3

What is the most common presentation of LCH?

Monostotic bone lesion

4

What are the immunophenotypic hallmarks of LCH?

CD1a, langerin, S100, fascin
60%: BRAF V600E (+)ve

5

What is the current standard of care for low-risk multisystem LCH?

Prednisone + vinblastine for 12 months

6

What is the natural history of DI in LCH?

Usually irreversible, and not improved by systemic therapy (same as other endocrinopathies in LCH)

7

What is the immunophenotype of juvenile xanthogranuloma?

CD1a (-), S100 (-), langerin (-)
CD68+, CD163+, fascin +

8

What are the diseases associated with juvenile xanthogranuloma?

NF1, Noonan, JMML

9

What is the natural history of juvenile xanthogranuloma?

Mostly spontaneous regression; occasional fatalities in cases involving CNS or liver (but extranodal involvement rare, about 5% of cases)

10

What is the immunophenotype of Rosai-Dorfman disease?

CD1a(-), Langerin (-)ve
S100+, fascin+, CD68+, CD163+

11

What is the most common clinical presentation of Rosai-Dorfman disease? What organs are most often affected?

Painless, massive cervical lymphadenopathy
Extra-nodal involvement (40%): skin, upper respiratory tract, bone

12

Treatment of HLH

Etoposide, glucocorticoids, cyclosporine, IT MTX
(based on HLH-1994 and HLH-2004)
Recurrent or familial HLH: allogeneic HSCT

13

Prognosis of familial HLH

Fatal without HSCT
50% with HSCT

14

Causes of familial HLH (list 5)

Non-syndromic HLH: FHL1 to FHL5
(includes FLH2, perforin gene, and FHL4, syntaxin gene)
Syndromic: Chediak-Higashi, Griscelli type 2, lysinuric protein intolerance, XLP1 - 2

15

Causes of secondary HLH

- Infection: EBV (55%), herpervirus, more rarely bacteria, fungi, protozoa
- Malignancy: T-cell malignancies
- Auto-immune disease: JIA, SLE
- Drug-induced: following blinatumomab