Clonal evolution of 8p11 stem cell syndrome in a 14-year-old Chinese boy: a review of literature of t(8;13) associated myeloproliferative diseases.
We describe a case of coexisting BCR-ABL negative myeloproliferative disorder and precursor T-cell lymphoblastic lymphoma associated with t(8;13) involving FGFR1 at 8p11 in a 14-year-old boy who presented with generalized lymphadenopathy and an abdominal mass. JAK2 mutation and FIP1L1-PDGFRalpha were not detected. RT-PCR revealed the ZNF198-FGFR1 fusion transcript in both the bone marrow (BM) and lymph node (LN) of the patient at diagnosis. Of interest, reciprocal FGFR1-ZNF198 fusion transcript was demonstrated in the BM but not LN. Also differential clonal TcRgamma gene rearrangements in the BM and LN samples were observed. These findings provide novel insights into the genetic pathogenesis.
Wong
Wai-Shan
WS
Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, NT, Hong Kong SAR, China.
Cheng
Kelvin Chi-Keung
KC
Lau
Kin-Mang
KM
Chan
Natalie Pui-Ha
NP
Shing
Matthew Ming-Kong
MM
Cheng
Suk-Hang
SH
Chik
Ki-Wai
KW
Li
Chi-Kong
CK
Ng
Margaret Heung-Ling
MH
D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002681:China / Q000453:epidemiology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002999:Clone Cells; D018450:Disease Progression; D019675:Genes, T-Cell Receptor gamma / Q000235:genetics; D006412:Hematopoietic Stem Cells / Q000473:pathology; D006801:Humans; D008297:Male; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D012074:Remission Induction; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics
D051496:Receptor, Fibroblast Growth Factor, Type 1