A rare case of myeloproliferative disease with t(8;13)(p11;q12) associated with eosinophilia and lymphadenopathy

Abstract

Myeloproliferative disease associated with FGFR1 rearrangement (8p11), which is included in the 2008 WHO Classification of Myeloid Neoplasms, is a rare and extremely aggressive abnormality. The paper describes a clinical case of a 39-year-old female patient who was detected to have leukocytosis (as high as 47.2·109/l), absolute eosinophilia (as high as 3.1·109/l), and enlarged peripheral lymph nodes during her visit to a doctor. The bone marrow (BM) showed the changes typically encountered in myeloproliferative disease with eosinophilia. The patient was found to have t(8;13)(p11;q12) translocation associated with the rearrangement of the FGFR1 gene located at the 8p11 locus. Molecular and cytogenetic examinations failed to reveal BCR-ABL chimeric transcript, Jak2 V617F mutation, and deletions and translocations involving PDGFRA (4q12) and PDGFRB (5q32-33). The similar changes in the karyotype were also found in the lymph node cells. The undertaken treatment with hydroxyurea and the tyrosine kinase inhibitor dasatinib turned out to be ineffective. The patient underwent allogeneic BM transplantation from a HLA-identical sibling. Graft rejection occurred 6 months later. Allogeneic BM transplantation from the same donor (100% donor chimerism; FGFR1/8р11 translocation was not detected), which was complicated by the development of chronic graft-versus-host reaction, was performed again in March 2015. The patient is being followed up and continues to receive immunosuppressive therapy.

A Case of Myeloproliferative Neoplasm with BCR-FGFR1 Rearrangement: Favorable Outcome after Haploidentical Allogeneic Transplantation

“…Patients carrying the t(8;22)(p11;q11) and the subsequent BCR-FGFR1 fusion gene follow an aggressive course. There are a few reported patients who have been treated unsuccessfully with hydroxyurea [6], chemotherapy or TKIs [2, 5]. More potent TKIs, such as ponatinib which exhibits pan-FGFR inhibitory activity, may be of clinical benefit [10, 11].…”

“…It has been reported that MPN with a t(8;22) translocation and a chimeric BCR-FGFR1 fusion gene either present or rapidly transform into an acute leukaemia [3, 4], usually refractory to currently available chemotherapeutic regimens including tyrosine kinase inhibitors (TKIs) [2, 5]. No consensus on management is available for this condition.…”