[FIP1L1/PDGFRalpha fusion gene-negative chronic eosinophilic leukemia with t(5;12)(q31;p13): a case report and review of literatures].
OBJECTIVE
To deepen the understanding of chronic eosinophilic leukemia (CEL).


METHODS
The course of diagnosis and treatment in a case of FIP1L1/PDGFRalpha fusion gene negative CEL was reported. Flow cytometry was used to analyze the immunophenotype of the cells in peripheral blood and pleural fluid. Karyotype was analyzed with G-banding. The expression of FIP1L1/PDGFRalpha fusion gene was detected by RT-PCR technique. Routine pathological examination of the tissues from bone marrow, lung and spleen were performed.


RESULTS
A sixteen-year-old girl had severe anemia, fever, splenomegaly, thrombocytopenia and dominant hypereosinophilia lasting for 22 months. Trephine biopsy showed a hypercellular marrow with eosinophilic proliferation and moderate reticular fibrosis. Eosinophilic infiltration was found in lung and spleen and embolism was also found in spleen. She had a clonal chromosomal abnormality t(5;12)(q31;p13). The expression of FIP1L1/PDGFRalpha was negative. An abnormal clone of T cells expressing CD(3)(-), CD(4)(-), CD(8)(+) was found in peripheral blood and pleural fluid, in which the clonal T cell accounted for 5.43% and 1.66% of the total lymphocytes respectively. The patient was refractory to treatment with hydroxyurea, prednisone and interferon alpha. She had poor response to a combination of therapy with low dose cytosine arabinoside, mitoxantrone, vincristine, cyclophosphamide, methotrexate and prednisone. She did not respond to imatinib and died of multiple organ failure.


CONCLUSIONS
The present case fulfilled the WHO diagnostic criteria of FIP1L1/PDGFRalpha(-) CEL which did not respond to routine treatment and imatinib. Allogenic stem cell transplantation should be considered as early as possible in this case. It is noteworthy that clonal CD(3)(-), CD(4)(-), CD(8)(+)T-cell abnormality is related to the pathogenesis of CEL.
Luo
Rong-mu
RM
The Third Department of Hematology, Beijing Dao Pei Hospital, Beijing 100049, China.
Wu
Shu-lan
SL
Tong
Chun-rong
CR
Qiu
Jing-ying
JY
Wu
Ping
P
Lu
Dao-pei
DP
D000293:Adolescent; D005260:Female; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000175:diagnosis / Q000235:genetics*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics; D013601:T-Lymphocytes; D039221:mRNA Cleavage and Polyadenylation Factors / Q000235:genetics
C479818:FIP1L1 protein, human; D039221:mRNA Cleavage and Polyadenylation Factors; D020796:Receptor, Platelet-Derived Growth Factor alpha