53 yrs male with threpine biopsy. For 2 yrs skin eruptions and cronic cough were present.  
 
CLINICS:  
The blood count tested last friday shows a slight anemia (Hg - 12,6 g/dL), WBC and PLT normal (WBC - 6,65x10*9/L, PLT - 182x10*9/L). There is a slight increase of eosinophils 0,7 x10*9/L. Mast cell in a blood 0,9%.  
tHE Bilirubin is slightly increased at 21 mkmol/l (<21), direct bilirubin - 5,3 mkmol/L (<6,5), indirect - 15,7 (<15,3). ALT (13 U/L) and AST (17 U/L) are normal. gammaGT - 50 U/L (< 36 U/L). Albumin is 46g/L.  
No C findings.  
Skin biopsy - normal, no mast cells. Erythema.  
Serum triptase > 200.  
The whole body CT shows no pathologic mass or fractures. Bone density performed by DEXa - normal.  
The patient has with allergy associated symptoms as caught and skin erythema.  
 
HISTO:  
a) Cellularity 90%, subtotal difusse epithelioid medium sized (Giemsa+) eosinophilic and pale mastoytic infiltration with reniform nuclei.  
Multiple atypical mastocytes in smear.  
b) B lymphocytic aggregates and follicles.  
 
IH:  
MAST CELLS: CD117(+++)(membr.) 100% (~60% population); CD25(+/++)(membr.) 80%; CD2(+/++)(membr.) 90%; CD68(+/-)(dim. perinuclear) 30%; Mast cell tryptase (+/-) 90% (dim. citopl.); CD30(-); Ki67 index <5% (+++); CD43(++) 100% (membr.).  
lYMHOID: CD20 (++)(citopl.) >>> CD2+; CD5(+++)(citopl.) 100%; CD23(+/++)(citopl.) 25%; IgM(++) 100% (citopl.); p27(++/+++) 100% (nuclear); IgG(-); IgD(+/++) 30% (citopl.); MNDA1(-); CD3(-); CD43(?);  
 
FLOW:  
Peripheral blood: T lymphos (CD3+) ~59%, Th:Tc=1,6; NK cells (CD3- CD56+) ~9%; ~26% B-cells: CD45+, CD19+, CD5+, CD20+ strong, CD23+het, CD22+ dim, CD79b+, CD43+dim, FMC7+dim, CD38-, HLA-DR+, kappa+, lambda-, CD11c-, CD10-, sIgM-.  
restriction Ig kappa:lambda = 9:1. Imunophenotype compatible with B-CLL/SLL.  
~0,03% aberrant mastocytic population found: CD45+dim, CD117+strong, CD33+, CD2+, CD25+dim, CD34-.  
 
MOLECS: C kit exon 17 D816V mutation in bone marrow is negative. (repeated twice).  
FIP1L1/PDGFRA del4q12 is negative. TruSight myeloid sequencing did not show any mutation.  
 
PROPOSAL: a) Systemic aggressive mastocytosis/ aleukemic mast cell leukemia: CD117+; CD2/CD25+ > CD68+; CD43+; CD30(-); Ki67 prolif. activity low <5%.  
b) INCIDENTAL B SLL/CLL (or clonal lymphocytosis) in BM: p27+; CD5+ CD20+ > CD23+; IgM+ > IgD+; MNDA1/CyclinD1/CD43(-).  
 
ThankYouBeeingCloseForYears.

tzankov 2018-03-12 15:22	I basically agree with your diagnosis:     SM-AHNMD consisting of aleukemic mast cell leukemia and B-CLL.     I would recommend torough C-KIT sequencing for non-D816 mutations since mast cell leukemias may harbor such mutations (and some may be of therapeutic relevance).
ugnius 2018-03-12 15:36	Thanx alot and BestWishes to Your Familly. I'll will append molecular data (not mine, but possibly all KIT was sequenced). The patient will search therapy options in mastocytosis centers (Spain or Sweden)... (PDF trasnlated in ENG today)...
hurwitz 2018-03-12 16:43	It might be worth mentioning that the coincidence of mast cell disorders with lympho- or myeloproliferative disorders is well known
ugnius 2018-03-13 10:33	Thank You and Best Wishes!!!
ugnius 2018-03-17 16:46	NB! The case by the patient inciative was redirected to dr.P.Horny (Munich).
tzankov 2018-03-18 17:33	would you please post his comments as soon as available
tzankov 2018-03-18 17:33	would you please post his comments as soon as available
ugnius 2018-03-20 14:10	External consult (>Prof.H.P.Horny):     Diagnosis: SM - AHN     SM = Mast cell leukemia (aleukemic?) with features of well-differentiated systemic mastocytosis (60 to 70% of bone marrow are infiltrated)     AHN = CD5+ indolent B-cell lymphoma with multifocal bone marrow infiltration (5 to 10%)     Additional information (molecular biology) to follow
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