Flashcards in Histiocytic disorders Deck (15)
What is the diagnostic work up for LCH?
- 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
Which organs are considered high risk in LCH?
- Bone marrow
What is the most common presentation of LCH?
Monostotic bone lesion
What are the immunophenotypic hallmarks of LCH?
CD1a, langerin, S100, fascin
60%: BRAF V600E (+)ve
What is the current standard of care for low-risk multisystem LCH?
Prednisone + vinblastine for 12 months
What is the natural history of DI in LCH?
Usually irreversible, and not improved by systemic therapy (same as other endocrinopathies in LCH)
What is the immunophenotype of juvenile xanthogranuloma?
CD1a (-), S100 (-), langerin (-)
CD68+, CD163+, fascin +
What are the diseases associated with juvenile xanthogranuloma?
NF1, Noonan, JMML
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)
What is the immunophenotype of Rosai-Dorfman disease?
CD1a(-), Langerin (-)ve
S100+, fascin+, CD68+, CD163+
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
Treatment of HLH
Etoposide, glucocorticoids, cyclosporine, IT MTX
(based on HLH-1994 and HLH-2004)
Recurrent or familial HLH: allogeneic HSCT
Prognosis of familial HLH
Fatal without HSCT
50% with HSCT
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