| Entity | stem-cell myeloproliferative disorder associated with chromosomal translocations involving 8p12; to date, seven FGFR1 partners have been described (see below) |
| Disease | stem-cell myeloproliferative disorder characterized by T- or B-cell lymphoblastic leukemia/lymphoma, myeloid hyperplasia, and peripheral blood eosinophilia, and it generally progresses to acute myeloid leukemia; specific to the 8p12 chromosomal region |
| Prognosis | very poor (median survival: 12 mths) |
| Cytogenetics | the 7 translocations are: t(6;8)(q27; p12) involving FOP (FGFR1 Oncogene Partner) t(8;9)(p12;q33) involving CEP110 (Centrosome protein 110) t(8;11)(p12;p15) t(8;12)(p12;q15) t(8;13)(p12;q12 ) involving FIM (Fused In Myeloproliferative disorder also called ZNF198 or RAMP) t(8;17)(p12;q25) t(8;19)(p12;q13.3)
additional anomalies: in the t(8;9)(p12;q33): +der(9), +21; in the t(8;13)(p12;q12): +8, +der(13), +21 |
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| Hybrid/Mutated Gene | 5' FOP - 3' FGFR1 in the t(6;8) 5'CEP110 - FGFR1 in the t(8;9) 5' FIM/ZNF198 - 3' FGFR1 in the t(8;13) |
| Abnormal Protein | three fusion transcripts are identified: FOP-FGFR1, CEP110-FGFR1, and FIM-FGFR1; they encode large proteins containing the N-term of either FOP or CEP110, or FIM, and the catalytic domain of FGFR1 at their C-term: N-term leucine-rich region from FOP fused to the catalytic domain of FGFR1 N-term leucine zipper motifs from CEP110 fused to the catalytic domain of FGFR1 N-term zinc fingers from FIM fused to the Tyrosine kinase domain of FGFR1in C-term |
| Oncogenesis | constitutive activation of FGFR1 |
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| Entity | Pfeiffer syndrome (inborn disease) |
| Disease | one form of Pfeiffer syndrome, an autosomal dominant craniosynostosis syndrome with broad thumbs and usually no mental deficiency, is due to a mutation in amino acid 252 (Pro252Arg substitution) of FGFR1 |
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| Entity | Breast cancer |
| Disease | gene amplification and overexpression in sporadic breast tumors |
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