Chromosome 8p11.2 translocations: Prevalence, FISH analysis for FGFR1 and MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution

  title={Chromosome 8p11.2 translocations: Prevalence, FISH analysis for FGFR1 and MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution},
  author={Mrinal M. Patnaik and Naseema Gangat and Ryan A. Knudson and Jeannette G. Keefe and Curtis A Hanson and Animesh D Pardanani and Rhett P Ketterling and Ayalew Tefferi},
  journal={American Journal of Hematology},
Chromosome 8p11.2 translocations result in diverse oncogenic fusion genes involving FGFR1 or MYST3. [] Key Result Among 24,262 unique patient cytogenetic studies performed at the Mayo Clinic, 8p11.2 translocations were identified in 14 cases ( approximately 0.06%). FISH analysis was performed in 13 patients (12 had myeloid neoplasms) and revealed abnormalities of MYST3 (n = 4) or FGFR1 (n = 4) in eight patients. MYST3 abnormalities were associated with acute myeloid leukemia (AML), M4 in three and M6 in one…

Myeloid/lymphoid neoplasms with FGFR1 rearrangement

FGFR1-rearranged hematologic malignancies present with features of MPN and/or AL and FGFR1 and RUNX1 are therapeutic targets for ongoing and future clinical trials.

A novel t(1;8)(q25;p11.2) translocation associated with 8p11 myeloproliferative syndrome

The novel translocation of t(1;8)(q25;p11.2) associated with 8p11 myeloproliferative syndrome is described, which was detected using a spectral karyotyping (SKY) technique.

Functional characterization of two rare BCR–FGFR1+ leukemias

Results suggest that some but not all BCR–FGFR1 fusion positive leukemias may respond to TKIs that target FGFR1 kinase activity.

Allogeneic hematopoietic stem cell transplantation for 8p11 myeloproliferative syndrome with BCR-FGFR1 gene rearrangement: a case report and literature review

A possible dependence on the graft-versusleukemia (GvL) effect for achieving disease-free survival (DFS) after allogeneic HSCT for these patients with 8p11 myeloproliferative syndrome with BCR-FGFR1 gene rearrangement is suggested.

Myeloid and lymphoid Neoplasms with FGFR1 abnormalities: diagnostic and therapeutic challenges

The patient is a 46-year-old Chinese-American man who came to medical attention in China 4 months prior with a viral-like syndrome and painful enlargement of a submandibular lymph node which revealed T lymphoblastic lymphoma, and was referred to the authors' institution for further management.

Systemic mastocytosis with associated myeloproliferative neoplasm with t(8;19)(p12;q13.1) and abnormality of FGFR1: report of a unique case.

Another case of myeloproliferative neoplasm with chromosome translocation t(8;19) involving FGFR1 gene associated with systemic mastocytosis is described.

FGFR1 rearranged hematological neoplasms – molecularly defined and clinically heterogeneous

The largest series of patients with FGFR1 rearranged hematological neoplasms is described, once again confirming their broad spectrum of presentation and the inconsistent association with eosinophilia.

Allogeneic hematopoietic cell transplantation in patients with myeloid/lymphoid neoplasm with FGFR1-rearrangement: a study of the Chronic Malignancies Working Party of EBMT

Maintenance with tyrosine kinase inhibitors may be a promising approach, at least in cases with detectable residual disease after transplant in patients with myeloid/lymphoid neoplasm with FGFR1-rearranged MLN undergoing allo-HCT.



The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1

A novel mRNA fusion between exon 32 of the myosin XVIIIA gene (MYO18A) and exon 9 of FGFR1 is likely to be the causative transforming lesion in this unusual MDS/MPD.

AML with translocation t(8;16)(p11;p13) demonstrates unique cytomorphological, cytogenetic, molecular and prognostic features

AML with t(8;16) demonstrates unique cytomorphological, cytogenetic, molecular and prognostic features and is a specific subtype of AML.

The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.

Cloned the t(6;8)(q27;p11) translocation in two patients and found a fusion between FGFR1 and a novel gene, FOP (FGFR1 Oncogene Partner), located on chromosome band 6q27, which may promote hematopoietic stem cell proliferation and leukemogenesis through a constitutive phosphorylation and activation of the downstream pathway of FG FR1.

Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

Thirty cases of acute myeloid leukaemia with MYST histone acetyltransferase 3 (MYST3) rearrangement were collected in a retrospective study from 14 centres in France and Belgium, and particular clinical, cytologic, cytogenetic, molecular and prognostic characteristics may have allowed an individualization into the World Health Organization classification.

A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review.

A novel leukaemia syndrome associated with translocations involving 8p11 is identified and it is proposed that they be considered a single nosological entity and termed '8p11 myeloproliferative syndrome'.

FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome

The cloning of a novel fusion oncogene associated with a unique leukaemia/lymphoma syndrome is reported, demonstrating an FGFR1 oncogenic role and suggesting a tumorigenic mechanism in which ZNF198–FGFR1 activation results from ZNF 198 zinc-finger-mediated homodimerization.

8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes

It is shown that both the TIF1–FGFR1 and FGFR1–TIF1 fusion proteins have the potential to be translated as a result of the translocation, lending support to the concept that there is a precise correlation between genotype and phenotype in this disease.

The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.

The study demonstrates that the BCR-FGFR1 fusion may occur in patients with apparently typical CML, and patients with constitutively active FGFR 1 fusion genes may be amenable to treatment with specific FGFR1 inhibitors.

A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene

The first case of 8p11 myeloproliferative syndrome (EMS) with t(8;9)(p11;q33), who unusually demonstrated B‐lymphoblastic/monoblastic biphenotypic transformation is described, which clearly indicates that the blastic transformation in EMS with t (8; 9) could arise in the stem cells, which differentiate into not only myelomonocytic but also B-lymphocytic lineages.