TY - JOUR
T1 - Hematopoietic neoplasms with 9p24/JAK2 rearrangement
T2 - a multicenter study
AU - Tang, Guilin
AU - Sydney Sir Philip, John Kennedy
AU - Weinberg, Olga
AU - Tam, Wayne
AU - Sadigh, Sam
AU - Lake, Jonathan I.
AU - Margolskee, Elizabeth M.
AU - Rogers, Heesun J.
AU - Miranda, Roberto N.
AU - Bueso-Ramos C, Carlos
AU - Hsi, Eric D.
AU - Orazi, Attilio
AU - Hasserjian, Robert P.
AU - Arber, Daniel A.
AU - Bagg, Adam
AU - Wang, Sa A.
N1 - Publisher Copyright:
© 2018, United States & Canadian Academy of Pathology.
PY - 2019/4/1
Y1 - 2019/4/1
N2 - The purpose of this study is to examine hematopoietic neoplasms with 9p24/JAK2 rearrangement including neoplasms associated with t(8;9)(p22;p24)/PCM1-JAK2 fusion neoplasm as well as cases with translocations involving 9p24/JAK2 and other partner genes. From seven large medical centers, we identified ten patients with t(8;9)(p22;p24) /PCM1-JAK2 and 3 with t(9p24;v)/JAK2 at diagnosis. Majority of the cases showed myeloproliferative neoplasm (MPN) associated features (n = 7) characterized by variable degrees of eosinophilia, myelofibrosis, frequent proliferations of early erythroblasts in bone marrow and extramedullary sites, and infrequent/absent somatic mutations. Other less common presentations included myelodysplastic syndromes (MDS) or MDS/MPN (one each). Four patients presented with B-lymphoblastic leukemia (B-ALL), and of them, two patients with t(8;9)(p22;p24.1) were proven to be B-lymphoblastic crisis of MPN; and the other two cases with t(9p24;v) both were de novo B-ALL, BCR-ABL1-like (Ph-like). We show that the hematopoietic neoplasms with 9p24/JAK2 rearrangement are extremely rare, and most of them are associated with t(8;9)(p22;p24)/PCM1-JAK2, a recent provisional World Health Organization entity under “myeloid/lymphoid neoplasm with a specific gene rearrangement”. Cases of t(8;9)(p22;p24)/PCM1-JAK2, though heterogeneous, do exhibit some common clinicopathological characteristic features. Cases with t(9p24;v)/JAK2 are extremely rare; while such cases with a MPN presentation may resemble t(8;9)(p22;p24.1)/PCM1-JAK2, B-ALL cases presenting de novo B-ALL might belong to Ph-like B-ALL.
AB - The purpose of this study is to examine hematopoietic neoplasms with 9p24/JAK2 rearrangement including neoplasms associated with t(8;9)(p22;p24)/PCM1-JAK2 fusion neoplasm as well as cases with translocations involving 9p24/JAK2 and other partner genes. From seven large medical centers, we identified ten patients with t(8;9)(p22;p24) /PCM1-JAK2 and 3 with t(9p24;v)/JAK2 at diagnosis. Majority of the cases showed myeloproliferative neoplasm (MPN) associated features (n = 7) characterized by variable degrees of eosinophilia, myelofibrosis, frequent proliferations of early erythroblasts in bone marrow and extramedullary sites, and infrequent/absent somatic mutations. Other less common presentations included myelodysplastic syndromes (MDS) or MDS/MPN (one each). Four patients presented with B-lymphoblastic leukemia (B-ALL), and of them, two patients with t(8;9)(p22;p24.1) were proven to be B-lymphoblastic crisis of MPN; and the other two cases with t(9p24;v) both were de novo B-ALL, BCR-ABL1-like (Ph-like). We show that the hematopoietic neoplasms with 9p24/JAK2 rearrangement are extremely rare, and most of them are associated with t(8;9)(p22;p24)/PCM1-JAK2, a recent provisional World Health Organization entity under “myeloid/lymphoid neoplasm with a specific gene rearrangement”. Cases of t(8;9)(p22;p24)/PCM1-JAK2, though heterogeneous, do exhibit some common clinicopathological characteristic features. Cases with t(9p24;v)/JAK2 are extremely rare; while such cases with a MPN presentation may resemble t(8;9)(p22;p24.1)/PCM1-JAK2, B-ALL cases presenting de novo B-ALL might belong to Ph-like B-ALL.
UR - http://www.scopus.com/inward/record.url?scp=85056347055&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85056347055&partnerID=8YFLogxK
U2 - 10.1038/s41379-018-0165-9
DO - 10.1038/s41379-018-0165-9
M3 - Article
C2 - 30401948
AN - SCOPUS:85056347055
SN - 0893-3952
VL - 32
SP - 490
EP - 498
JO - Modern Pathology
JF - Modern Pathology
IS - 4
ER -