Chronic myeloproliferative disorder with t(8;22)(p11;q11) can mime clonal cytogenetic evolution of authentic chronic myelogeneous leukemia

Richebourg, Steven; Theisen, Olivier; Plantier, Isabelle; Parry, Anne; Soenen, Valérie; Lepelley, Pascale; Preudhomme, Claude; Renneville, Aline; Laı̈, Jean-Luc; Roche‐Lestienne, Catherine

doi:10.1002/gcc.20588

Cited by 24 publications

(18 citation statements)

References 19 publications

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“…Rearrangements involving ZNF198-FGFR1 occur most frequently [25], and 12 cases have been reported that involve the BCR-FGFR1 translocation [8,9,10,11,12,13,14,15,16,17,18]. …”

Section: Introductionmentioning

confidence: 99%

“…Known gene fusion partners of the 3′ portion of FGFR1 are as follows: ZNF198 (5′ domain of the zinc finger gene) located at 13q12 [4,5], CEP110 (110-kDa centrosome protein) at 9q33 [4,6], FGFR1OP1 (FGFR1 oncogenic partner 1) at 6q27 [4,7], BCR (breakpoint cluster region) at 22q11 [8,9,10,11,12,13,14,15,16,17,18], MYO 18A (myosin XVIII A) at 17q23 [19], TIF1 (transcription intermediary factor 1 α) at 7q34 [20], HERV-K (human endogenous retrovirus K) at 19q13 [21], LRRFIP1 (leucine-rich repeat flightless interacting protein 1) at 2q37 [22], FGFR1OP2 (FGFR1 oncogenic partner 2) at 12p11 [23], and CPSF6 (cleavage and polyadenylation specific factor 6) at 12q15 [24]. Rearrangements involving ZNF198-FGFR1 occur most frequently [25], and 12 cases have been reported that involve the BCR-FGFR1 translocation [8,9,10,11,12,13,14,15,16,17,18].…”

Section: Introductionmentioning

confidence: 99%

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A Case of 8p11 Myeloproliferative Syndrome with BCR-FGFR1 Gene Fusion Presenting with Trilineage Acute Leukemia/Lymphoma, Successfully Treated by Cord Blood Transplantation

Morishige¹,

Oku²,

Takata³

et al. 2012

Acta Haematol

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The 8p11 myeloproliferative syndrome is a rare neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) gene located at chromosome 8p11–12. FGFR1 encodes a transmembrane receptor tyrosine kinase. The resultant fusion proteins are constitutively active tyrosine kinases that drive the proliferation of hematopoietic cells, whose uncontrolled growth can present as a myeloproliferative neoplasm. We report here the case of a 50-year-old man harboring the t(8;22)(p12;q11) chromosomal translocation in cells from both bone marrow and lymph nodes. He presented with acute leukemia and lymphoma with trilineage features. A novel mRNA in-frame fusion between exon 4 of the breakpoint cluster region (BCR) gene at chromosome 22q11 and exon 9 of FGFR1 gene on chromosome 8p11–12 was identified by reverse transcription polymerase chain reaction analysis and was confirmed by DNA sequencing. Because the patient was refractory to chemotherapy, cord blood transplantation was performed in progressive disease. It resulted in a successful outcome in which cytogenetic complete remission has been maintained for 2 years till date.

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“…Rearrangements involving ZNF198-FGFR1 occur most frequently [25], and 12 cases have been reported that involve the BCR-FGFR1 translocation [8,9,10,11,12,13,14,15,16,17,18]. …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A Case of 8p11 Myeloproliferative Syndrome with BCR-FGFR1 Gene Fusion Presenting with Trilineage Acute Leukemia/Lymphoma, Successfully Treated by Cord Blood Transplantation

Morishige¹,

Oku²,

Takata³

et al. 2012

Acta Haematol

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show abstract

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2013

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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.

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“…Recently, certain studies have reported that patients with t(8;22) exhibit similar morphological and clinical features to those observed in CML patients (2)(3)(4). 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).…”

Section: Introductionmentioning

confidence: 82%

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

et al. 2016

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Abstract. t(8;22)(p11;q11) is a rare but recurrent genetic alteration in various hematological disorders. Patients with t(8;22)(p11;q11) may be misdiagnosed with chronic myelogenous leukemia (CML), due to the similar clinical features. Thus, the current study presents a patient with t(8;22) (p11;q11) who was previously misdiagnosed with CML in the chronic phase. The current patient was a 26-year-old woman who was 4-weeks pregnant and in whom an increased white blood cell count (4.0x10 10 /l) was found upon physical examination. The patient had no history of hematological disease. Although cytogenetics showed a normal karyotype and no breakpoint cluster region/Abelson murine leukemia viral oncogene homolog 1 (BCR/ABL) fusion gene was detected by reverse transcription-polymerase chain reaction, a diagnosis of chronic myelogenous leukemia (CML) was initially made according to the clinical and morphological features. Another 6 weeks later, t(8;22)(p11;q11) rearrangement was present in 9 out of 10 analyzed metaphases. Fluorescence in situ hybridization and reverse transcription-polymerase chain reaction indicated a negative result for the BCR/ABL fusion, but gave a positive result for the BCR-fibroblast growth factor receptor 1 fusion. A hematological diagnosis of atypical CML was again formed. IntroductionChronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, which is generated by the reciprocal translocation, t(9;22) (1). This abnormality is found in >90% of CML cases, in 15-20% of acute lymphoblastic leukemia cases, and a small number of acute myeloid leukemia cases (1). Recently, certain studies have reported that patients with t(8;22) exhibit similar morphological and clinical features to those observed in CML patients (2-4). 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 (2-17). 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 (13-17). 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).The present study reports the 18th case of a CML-like hematological tumor bearing t(8;22)(p11;q11) with no other cell lineages involved. Case reportOn February 23, 2013, a 26-year-old woman who was 4-weeks pregnant, with no history of hematological disease, was found to exhibit an increased white blood cell (WBC) count (4.0x10 10 /l; normal range, 0.37-0.92x10 10 /l) upon physical examination. Cytogenetic study on the patient's bone marrow (BM) cells showed a normal female karyotype in all metaphases. Tests for the BCR/ABL fusion ...

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Chronic myeloproliferative disorder with t(8;22)(p11;q11) can mime clonal cytogenetic evolution of authentic chronic myelogeneous leukemia

Cited by 24 publications

References 19 publications

A Case of 8p11 Myeloproliferative Syndrome with <b><i>BCR-FGFR1</i></b> Gene Fusion Presenting with Trilineage Acute Leukemia/Lymphoma, Successfully Treated by Cord Blood Transplantation

A Case of 8p11 Myeloproliferative Syndrome with <b><i>BCR-FGFR1</i></b> Gene Fusion Presenting with Trilineage Acute Leukemia/Lymphoma, Successfully Treated by Cord Blood Transplantation

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

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

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