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

• Main Authors: N N Tsyba, A G Turkina, E Yu Chelysheva, I S Nemchenko, A M Kovrigina, T N Obukhova, E S Urnova, L A Kuzmina, V G Savchenko
• Format: Article
• Language: Russian
• Published: "Consilium Medicum" Publishing house 2016-07-01
• Series: Терапевтический архив
• Subjects: 8p11 myeloproliferative syndrome; myeloproliferative disease; fgfr1 gene; t(8; 13)(p11; q12); clinical picture; allogeneic bone marrow transplantation; graft-versus-host reaction
• Online Access: https://ter-arkhiv.ru/0040-3660/article/viewFile/32029/pdf

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.