8p11 myeloproliferative syndrome with BCR-FGFR1 rearrangement presenting with T-lymphoblastic lymphoma and bone marrow stromal cell proliferation: A case report and review of the literature

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

“…t(8;22)(p11;q11) is a rare but recurrent genetic alteration that has been reported in 11 patients with hematological malignancies, including 9 with myeloproliferative neoplasm (MPN) [1,2,3,4,5,6,7,10] and 2 with B-cell acute lymphoblastic leukemia (B-ALL) [8,9]. This translocation results in a fusion between the fibroblast growth factor receptor 1 gene (FGFR1) on 8p11 and the breakpoint cluster region gene (BCR) on 22q11.…”

“…Animal models mimicking t(8;22)(p11;q11) developed MPN [11,12] and B-ALL [13], indicating that t(8;22)(p11;q11) plays a crucial role in tumorigenesis and that this translocation can cause tumors of myeloid and B-lymphoid cells. Interestingly, previously reported MPN with t(8;22)(p11;q11) exhibited unusual B-cell proliferation even in the chronic phase [1,2,10]. In addition, two B-ALL patients showed curious proliferation of myeloid cells after remission of B-ALL [8,9].…”

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

“…The immunophenotypic data of 6 patients had not been described in the literature (2,3,6,8,9,13). A total of 10 cases exhibited aberrant proliferation of myeloid and B-lymphoid cells, and T-lymphoid cells were involved in 1 case (14). Additional chromosomal abnormalities may explain the observed heterogeneity with regard to the clinical features and affected lineages in these patients.…”

“…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).…”