Cytogenetic Evolution Associated With Disease Progression in Hematopoietic Neoplasms With t(8;22)(p11;q11)/BCR-FGFR1 Rearrangement.
Hematopoietic neoplasms with FGFR1 rearrangements are rare. Clinically, patients often present with a chronic myeloproliferative neoplasm with eosinophilia and an increased risk of transformation to acute leukemia. We report a patient who initially presented with B-cell acute lymphoblastic leukemia (B-ALL) with t(8;22)(p11.2;q11.2) and an additional derivative chromosome 22 [der(22)t(8;22)]. After induction chemotherapy, B-ALL blasts were eradicated; however, a chronic myeloproliferative process emerged showing persistent t(8;22) (p11.2;q11.2) but not der(22)t(8;22). Combined morphologic and fluorescence in situ hybridization revealed that both lymphoblasts and myeloid cells harbored t(8;22)(p11.2;q11.2); but only lymphoblasts carried the additional der(22)t(8;22). This case provides direct evidence to illustrate the clonal relationship of chronic phase and blast phase in myeloid neoplasms with FGFR1 rearrangement, and demonstrates that clonal cytogenetic evolution plays an important role in disease progression.
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Wei
W
Wang
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Guilin
G
Tang
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas
Tapan
T
Kadia
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Xinyan
X
Lu
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Yan
Y
Li
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Lanshan
L
Huang
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Ximena
X
Montenegro-Garreaud
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Roberto N
RN
Miranda
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas
Sa A
SA
Wang
D003582:Cytogenetics; D018450:Disease Progression; D005260:Female; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D014178:Translocation, Genetic
C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1