| 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 |
|
| somatic |
| Function/system disorder
| hematology |
| Type
| malignancy
|
| 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 mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
|
| 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. |