CASE IS OPEN:
2 yrs old boy with thrombocytopenia > anemia presented from Jan 2018. Fever, tonsilitis, acute resporatory infection episodes repeatedly appear. Depends on transfussions. Autoimmune markers (ANA/ANCA) absent. CMV/parvovirus/HIV negative too. The signs of autoimmune haemolysis. B12/Cu/Fe/folic acid normal levels in blood. Clinically: multiple hematomas, neck lymphadenopathy, hepatomegaly. Lymphocytosis appears at the end.
BLOOD (LAST, after transfusions):
RBC (*10e12/l) 3,59 2-6m. 3,8-5,0
HGB (g/l) 102 2-6m. 110-135
PLT trombocitai (*10e9/l) 8 140-450
MOLECS:
- SNP-A: normal;
- Inherited panel (NGS): nothing special. NOTE: STX11 mutation uncertain variant c.616G>A (p.(Glu206Lys) in heterozyous state (gene asociated with HLH).
- MDS/MPN panel: pending.
Autoimmune or inherited causes under discussion.
FLOW: ~1,5% abberrant population of immature cells: CD45+dim, CD33+strong, CD36+, CD7+, CD4+dim, CD99+dim, CD34-, CD117-, HLA-DR-, CD14-, CD64-, CD2-, CD3-, cCD3-, CD8-: early mono???
HISTO (2 biopsies identical): the last one presented there (bilateral):
- disordered architecture with reticulin fibrosis MF1;
- dyserythropoiesis;
- slight mega dysplasia;
- prominent expansion of hematogones: CD10+ > CD20/CD79a+ > CD79a (flow interpreted as different stages and NO BLAST population detected);
- no "classic" definite CD34 CD117 or Bcl2+ blasts, EXCEPT strange pleomorfic CD7+ population (visible on flow).
PICTURE from the same field, deformed technically.
DIAGNOSTIC QUESTION:
a) MDS like changes with aberrant anonymous CD7+ population up to 5% (ITP? Other?)(SIMILAR found in flow up to 1.5%);
b) Expansion of hematogones up to 25% (not very compatible with true MDS diagnosis).
LAST FOLLOW UP: 2018 Sept:
- Peripheral blood (venous): up to 40% blasts: CD45+, CD4+ bl, CD7+, CD13+, CD33+ ryš, CD38+ ryš, cCD41a+ bl, cCD42a+ bl, cCD61+ bl, CD71+ bl, CD34-, CD56-, HLA-DR-, cMPO-, cCD3-, cCD79a-.
- Anonymous pleomorphic blasts from CD7+ phenotype (threpine and flow) switch to M7 myeloid phenotype.