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Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c‐kit mutation Asp‐816 to Val
Author(s) -
Sperr Wr,
Sabine Walchshofer,
Horny Hp,
Manuela Födinger,
Ingrid Simonitsch,
Robert Fritsche-Polanz,
I. Schwarzinger,
Erwin Tschachler,
Christian Sillaber,
Wolfgang Hagen,
Klaus Geißler,
Andreas Chott,
Klaus Lechner,
Peter Valent
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.01072.x
Subject(s) - systemic mastocytosis , cd117 , tryptase , cd34 , cd15 , myeloid , clone (java method) , bone marrow , medicine , proto oncogene proteins c kit , progenitor cell , haematopoiesis , cancer research , stem cell factor , immunology , mast cell , biology , stem cell , gene , genetics
A subset of patients with systemic mastocytosis (SM) develop acute myeloid leukaemia (AML). However, little is known about the biology of such leukaemias and their relationship to the mast cell (MC) lineage. We report on two female patients who suffered from SM and AML. According to FAB criteria, the leukaemias were classified as AML‐M4 (patient 1) and AML‐M0 (patient 2). The coexistence of the two distinct neoplasms (AML and SM) was demonstrable by immunostaining of serial bone marrow (BM) sections with monoclonal antibodies (mAb). In particular, the MC infiltrates were found to react with mAb against MC‐tryptase and MC growth factor receptor c‐kit (CD117), but not with mAb to CD15 or CD34. In contrast, the AML blasts were immunoreactive for CD15 (patient 1) or CD34 (patient 2), but did not express tryptase. The c‐kit point mutation Asp → Val at codon 816, considered to play a role in the transformation of MC progenitors, was detected in patient 1 in a BM cell fraction containing 4% MC. However, no c‐kit mutation was found in pure AML blasts (<1% MC). These findings argue against an evolution of the AML clone from neoplastic MC or MC‐committed progenitors.