Tzankov, A.; Sotlar, Karl; Muhlematter, D.; Theocharides, A.; Went, P.; Jotterand, M.; Horny, H.-P.; Dirnhofer, S.
Systemic mastocytosis with associated myeloproliferative disease and precursor B lymphoblastic leukaemia with t(13;13)(q12;q22) involving FLT3.
In: Journal of Clinical Pathology, Vol. 61: S. 958-961
Systemic mastocytoses represent neoplastic proliferations
of mast cells. In about 20% of cases systemic
mastocytoses are accompanied by clonal haematopoietic
non-mast cell-lineage disorders, most commonly myeloid
neoplasms. A case of systemic mastocytosis carrying the
characteristic mutation at codon 816 (D816V) in the KIT
gene of mast cells, with two concurrent accompanying
clonal haematopoietic non-mast cell-lineage disorders,
chronic myeloproliferative disease, unclassifiable and
precursor B lymphoblastic leukaemia is documented. Both
accompanying clonal haematopoietic non-mast cell-lineage
disorders carried the wild-type KIT gene, but had a
novel t(13;13)(q12;q22) involving the FLT3 locus at
13q12. The chronic myeloproliferative disease, unclassifiable
and the precursor B lymphoblastic leukaemia were
cured by syngenous stem cell transplantation, but the
systemic mastocytosis persisted for more than 10 years.
The additional impact of molecular techniques on the
correct diagnosis in haematological malignancies is
highlighted, and evidence is provided that, apart from
internal tandem duplications and mutations, FLT3 can be
activated by translocations.