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last update : 06-10-2010
Symbol SCLLS
Location 8p11.22 and 13
Name stem-cell leukemia/lymphoma syndrome
Other name(s) (8;13) myeloproliferative syndrome atypical myeloproliferative disorder
Corresponding gene FGFR1 , ZMYM2
Other symbol(s) TCLL, SCLL
Main clinical features rare aggressive condition characterized in its typical form by the occurrence, either simultaneously or sequentially, of a BCR/ABL-negative myeloproliferative disorder and a lymphoma, usually a precursor T-lymphoblastic lymphoma. The disease most often terminates in acute myeloid leukemia (Goradia 2008)
Genetic determination chromosomal
Function/system disorder hematology
Type malignancy
Gene product
Name the most frequent FGFR1 translocation partner is the zinc finger gene ZNF198 located at 13q11. The t(8;13)(p11;q11) disrupts intron 8 of the FGFR1 gene and fuses proline-rich and zinc finger domains of the ZNF198 gene with the cytoplasmic tyrosine kinase domain of FGFR1. Oligomerization of the fusion protein occurs, with subsequent activation of downstream signal transduction pathways,
Gene mutationChromosome rearrangementEffectComments
  translocation   acquired t(8;13) (p11;q11-q12), involving FGFR1 and ZMYM2
  translocation   variant t(6;8) (q27;p11), involving FGFR1 and FOP and t(8;9), acquired
Remark(s) eight partner genes have been identified in association with FGFR1 rearrangements.