Acute Leukemia Showing t(8;22)(p11;q11), Myelodysplasia, CD13/CD33/CD19 Expression and Immunoglobulin Heavy Chain Gene Rearrangement

Abstract

t(8;22)(p11;q11) is a rare but recurrent chromosome translocation that has been reported in 11 cases of myeloproliferative neoplasm or B-acute lymphoblastic leukemia. This translocation results in an in-frame fusion of FGFR1 on 8p11 and BCR on 22q11, and causes constitutive activation of the tyrosine kinase of the BCR/FGFR1 chimera protein. Here, we report the twelfth case of hematological tumor bearing t(8;22)(p11;q11). The bone marrow showed hypoplastic and tri-lineage dysplasia with 24.4% abnormal cells. The abnormal cells were not defined as myeloid or lymphoid morphologically, lacking a myeloperoxidase reaction. Flow cytometric analysis of the bone marrow cells revealed that the abnormal cells expressed CD13, CD33, CD34, and CD19, and that a fraction of the abnormal cells was positive for CD10. Southern blot analysis of the bone marrow cells showed rearrangement of the immunoglobulin heavy chain gene, a genetic hallmark of B-cell differentiation. Previously reported cases with t(8;22)(p11;q11) suggested an association between myeloid and B-lymphoid tumors, whereas other chromosome translocations involving FGFR1 on 8p11 showed a link between myeloid and T-lymphoid tumors. Our observation supports that t(8;22)(p11;q11) might define a dual myeloid and B-lymphoid disorder.

Primary cells in BCR/FGFR1‐positive 8p11 myeloproliferative syndrome are sensitive to dovitinib, ponatinib, and dasatinib

“…We here describe the clinical and genetic characteristics of a previously unreported EMS case harboring a BCR/FGFR1 fusion gene. So far, only 13 cases of EMS with a molecularly confirmed BCR/FGFR1 fusion gene have been reported . Consistent with most previous reports, our patient displayed a CML‐like disease at diagnosis.…”

Chronic myelogenous leukemia-like hematological malignancy with t(8;22) in a 26-year-old pregnant woman: A case report

“…Of the 15 patients with laboratory data, 13 patients showed an increased WBC count (median, 5.56x10 10 /l; range, 1.84-19.8x10 10 /l), while the remaining 2 displayed a normal and a decreased WBC count of 5.1x10 9 /l (13) and 1.5x10 9 /l (16), respectively. Among the 15 cases, 10 displayed a decreased Hb level (median, 108 g/l; range, 72-131 g/l) (4,5,(9)(10)(11)(13)(14)(15)(16)(17), and the majority of these cases exhibited a marginal decrease in Hb levels. While 2 out of the 15 patients showed increased Plt levels (9,13), decreased levels were observed in 4 cases (11,(14)(15)(16) and the remaining 9 displayed normal levels.…”

“…Since the first case reported by Fioretos in 2001 (5), to the best of our knowledge, t(8;22)(p11;q11) has been reported in only 17 cases with hematological malignancies (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17). Of these, 6 cases presented with atypical CML (2-4,6,7), 3 with myeloproliferative neoplasms (5,8,9), 3 with B-cell acute lymphoblastic leukemia (10-12) and 5 with other types of hematological neoplasms (13)(14)(15)(16)(17). t(8;22) results in an in-frame fusion of FGFR1 on 8p11 and BCR on 22q11, and causes constitutive activation of the tyrosine kinase of the breakpoint cluster region/fibroblast growth factor receptor 1 (BCR/FGFR1) chimera protein, similar to Abelson murine leukemia viral oncogene homolog 1 (ABL) kinase activity in the BCR/ABL chimera (2,18).…”

A Case of Myeloproliferative Neoplasm with BCR-FGFR1 Rearrangement: Favorable Outcome after Haploidentical Allogeneic Transplantation

“…MLNAF may rapidly progress to CML-like blast crisis. Cases of B-acute lymphoblastic leukaemia (B-ALL), T lymphoblastic lymphoma, and acute myelogeneous leukaemia (AML) have also been reported [4, 9, 12–14, 19, 20].…”