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.  
 
Thank You for continuous support.

tzankov 2018-08-21 13:20	Nicely worked-up case with erythroid hyperplasia and increased heatogones in the bone marrow. I do not see sufficient morpholgical evidence to suspect an MDS, particularly not, if autoimmne hemolysis is present. I would probably stain the case for CD11c to look for more immature histocytes and CD68 to look for occult hemophagocytosis. Are EBV titres of qPCR increased? If not done, ask the clinical colleagues to do perform respective analyses. A diagnostic lymphadenectomy may be worth to be considered.
ugnius 2018-08-25 13:06	Thanx. Sorry for dellay (vacation up to 09 04):   - EBV negative (PCR).   - Lymphadenopathy not very pronounced up to 1cm visceral, liver/portal and neck.   - HLH clinically not prominent (no fever, hepatosplenomegaly only slight, no lab values of HLH).   They 've sent all materials to Friburg MDS/AA center.   So my "pediatric game" is over.
tzankov 2018-08-31 12:22	thank you Ugnius for the update.
ugnius 2018-09-08 11:59	OF NOTE: External consultants do not found MDS too. BUT- clinically in aspirate CD7+ undifferentiated blast count reaches 16% level- so probably undifferentiated acute leukemia is in progress. I cannot explain strange hematogone expansion still...
ugnius 2018-09-15 12:50	LAST UPGRADE:   - 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.
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