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Erschienen in: International Journal of Hematology 6/2013

01.06.2013 | Case Report

Acute myeloid leukemia associated with FGFR1 abnormalities

verfasst von: Hyeyoung Lee, Myungshin Kim, Jihyang Lim, Yonggoo Kim, Kyungja Han, Byung-Sik Cho, Hee-Je Kim

Erschienen in: International Journal of Hematology | Ausgabe 6/2013

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Abstract

Hematologic malignancies associated with FGFR1 abnormalities present in heterogeneous forms, including myeloproliferative neoplasm, acute myeloid leukemia (AML), T- or B-lineage lymphoblastic leukemia/lymphoma, and even mixed phenotype acute leukemia. In the present report, we describe three new cases of AML associated with FGFR1 abnormalities: AML with minimal differentiation with 45,XY,-7,t(8;13)(p11.2;q12), acute myelomonocytic leukemia with eosinophilia with 48,XY,t(8;9)(p11.2;q33),+19,+21, and AML with minimal differentiation with 46,XX,add(8)(p11.2). FGFR1 abnormalities were confirmed by fluorescence in situ hybridization. We reviewed the records of 19 patients reported from Asian countries, and found that approximately 40 % of cases manifested as acute leukemia associated with myeloid lineage, and 47 % were not accompanied with eosinophilia. These findings highlight the need for detection of FGFR1 abnormalities, not only in myeloproliferative disorder, but also in AML patients even without eosinophilia. The prognosis for this group of neoplasms is poor, and there is no recognized effective targeted treatment. Two patients, including our case, who received allogeneic hematopoietic stem cell transplantation (allo-HSCT) survived. Accumulation of long-term follow-up data can help determine the allo-HSCT protocol or the need for new therapeutic trials to improve the survival rate of patients with FGFR1 abnormalities.
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Literatur
1.
Zurück zum Zitat Hu S, He Y, Zhu X, Li J, He H. Myeloproliferative disorders with t(8;9)(p12;q33): a case report and review of the literature. Pediatr Hematol Oncol. 2011;28:140–6.PubMedCrossRef Hu S, He Y, Zhu X, Li J, He H. Myeloproliferative disorders with t(8;9)(p12;q33): a case report and review of the literature. Pediatr Hematol Oncol. 2011;28:140–6.PubMedCrossRef
2.
Zurück zum Zitat Macdonald D, Aguiar RC, Mason PJ, Goldman JM, Cross NC. A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. Leukemia. 1995;9:1628–30.PubMed Macdonald D, Aguiar RC, Mason PJ, Goldman JM, Cross NC. A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. Leukemia. 1995;9:1628–30.PubMed
3.
Zurück zum Zitat Bain BJ, Gilliland DG, Horny HP, Vardiman JW. Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. In: Swerdlow SHCE, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, editors. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC; 2008. p. 68–73. Bain BJ, Gilliland DG, Horny HP, Vardiman JW. Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. In: Swerdlow SHCE, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, editors. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC; 2008. p. 68–73.
4.
Zurück zum Zitat Jackson CC, Medeiros LJ, Miranda RN. 8p11 myeloproliferative syndrome: a review. Hum Pathol. 2010;41:461–76.PubMedCrossRef Jackson CC, Medeiros LJ, Miranda RN. 8p11 myeloproliferative syndrome: a review. Hum Pathol. 2010;41:461–76.PubMedCrossRef
5.
Zurück zum Zitat Yang JJ, Park TS, Choi JR, Park SJ, Cho SY, Jun KR, et al. Submicroscopic deletion of FGFR1 gene is recurrently detected in myeloid and lymphoid neoplasms associated with ZMYM2-FGFR1 rearrangements: a case study. Acta Haematol. 2012;127:119–23.PubMedCrossRef Yang JJ, Park TS, Choi JR, Park SJ, Cho SY, Jun KR, et al. Submicroscopic deletion of FGFR1 gene is recurrently detected in myeloid and lymphoid neoplasms associated with ZMYM2-FGFR1 rearrangements: a case study. Acta Haematol. 2012;127:119–23.PubMedCrossRef
6.
Zurück zum Zitat Dolan M, Cioc A, Cross NC, Neglia JP, Tolar J. Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion. Pediatr Blood Cancer. 2012;59:194–6.PubMedCrossRef Dolan M, Cioc A, Cross NC, Neglia JP, Tolar J. Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion. Pediatr Blood Cancer. 2012;59:194–6.PubMedCrossRef
7.
Zurück zum Zitat Chen J, Deangelo DJ, Kutok JL, Williams IR, Lee BH, Wadleigh M, et al. PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder. Proc Natl Acad Sci USA. 2004;101:14479–84.PubMedCrossRef Chen J, Deangelo DJ, Kutok JL, Williams IR, Lee BH, Wadleigh M, et al. PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder. Proc Natl Acad Sci USA. 2004;101:14479–84.PubMedCrossRef
8.
Zurück zum Zitat Chase A, Grand FH, Cross NC. Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome. Blood. 2007;110:3729–34.PubMedCrossRef Chase A, Grand FH, Cross NC. Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome. Blood. 2007;110:3729–34.PubMedCrossRef
9.
Zurück zum Zitat Ren M, Qin H, Ren R, Cowell JK. Ponatinib suppresses the development of myeloid and lymphoid malignancies associated with FGFR1 abnormalities. Leukemia. 2013;27:32–40. Ren M, Qin H, Ren R, Cowell JK. Ponatinib suppresses the development of myeloid and lymphoid malignancies associated with FGFR1 abnormalities. Leukemia. 2013;27:32–40.
10.
Zurück zum Zitat Lierman E, Smits S, Cools J, Dewaele B, Debiec-Rychter M, Vandenberghe P. Ponatinib is active against imatinib-resistant mutants of FIP1L1-PDGFRA and KIT, and against FGFR1-derived fusion kinases. Leukemia. 2012;26:1693–5.PubMedCrossRef Lierman E, Smits S, Cools J, Dewaele B, Debiec-Rychter M, Vandenberghe P. Ponatinib is active against imatinib-resistant mutants of FIP1L1-PDGFRA and KIT, and against FGFR1-derived fusion kinases. Leukemia. 2012;26:1693–5.PubMedCrossRef
11.
Zurück zum Zitat Morishige S, Oku E, Takata Y, Kimura Y, Arakawa F, Seki R, et al. A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation. Acta Haematol. 2012;129:83–9.PubMedCrossRef Morishige S, Oku E, Takata Y, Kimura Y, Arakawa F, Seki R, et al. A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation. Acta Haematol. 2012;129:83–9.PubMedCrossRef
12.
Zurück zum Zitat Nakayama H, Inamitsu T, Ohga S, Kai T, Suda M, Matsuzaki A, et al. Chronic myelomonocytic leukaemia with t(8;9)(p11;q34) in childhood: an example of the 8p11 myeloproliferative disorder? Br J Haematol. 1996;92:692–5.PubMedCrossRef Nakayama H, Inamitsu T, Ohga S, Kai T, Suda M, Matsuzaki A, et al. Chronic myelomonocytic leukaemia with t(8;9)(p11;q34) in childhood: an example of the 8p11 myeloproliferative disorder? Br J Haematol. 1996;92:692–5.PubMedCrossRef
13.
Zurück zum Zitat Park TS, Song J, Kim JS, Yang WI, Song S, Kim SJ, et al. 8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. Cancer Genet Cytogenet. 2008;181:93–9.PubMedCrossRef Park TS, Song J, Kim JS, Yang WI, Song S, Kim SJ, et al. 8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. Cancer Genet Cytogenet. 2008;181:93–9.PubMedCrossRef
14.
Zurück zum Zitat Zhou L, Fu W, Yuan Z, Hou J. Complete molecular remission after interferon alpha treatment in a case of 8p11 myeloproliferative syndrome. Leuk Res. 2010;34:306–7.CrossRef Zhou L, Fu W, Yuan Z, Hou J. Complete molecular remission after interferon alpha treatment in a case of 8p11 myeloproliferative syndrome. Leuk Res. 2010;34:306–7.CrossRef
15.
Zurück zum Zitat Yamamoto K, Kawano H, Nishikawa S, Yakushijin K, Okamura A, Matsui T. A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene. Eur J Haematol. 2006;77:349–54.PubMedCrossRef Yamamoto K, Kawano H, Nishikawa S, Yakushijin K, Okamura A, Matsui T. A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene. Eur J Haematol. 2006;77:349–54.PubMedCrossRef
16.
Zurück zum Zitat Wong WS, Cheng KC, Lau KM, Chan NP, Shing MM, Cheng SH, et al. 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. Leuk Res. 2007;31:235–8.PubMedCrossRef Wong WS, Cheng KC, Lau KM, Chan NP, Shing MM, Cheng SH, et al. 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. Leuk Res. 2007;31:235–8.PubMedCrossRef
17.
Zurück zum Zitat Matsumoto K, Morita K, Takada S, Sakura T, Shiozaki H, Murakami H. A chronic myelogenous leukemia-like myeloproliferative disorder accompanied by T-cell lymphoblastic lymphoma with chromosome translocation t(8;13)(p11;q12): a Japanese case. Int J Hematol. 1999;70:278–82.PubMed Matsumoto K, Morita K, Takada S, Sakura T, Shiozaki H, Murakami H. A chronic myelogenous leukemia-like myeloproliferative disorder accompanied by T-cell lymphoblastic lymphoma with chromosome translocation t(8;13)(p11;q12): a Japanese case. Int J Hematol. 1999;70:278–82.PubMed
18.
Zurück zum Zitat Lee SG, Park TS, Lee ST, Lee KA, Song J, Kim J, et al. Rare translocations involving chromosome band 8p11 in myeloid neoplasms. Cancer Genet Cytogenet. 2008;186:127–9.PubMedCrossRef Lee SG, Park TS, Lee ST, Lee KA, Song J, Kim J, et al. Rare translocations involving chromosome band 8p11 in myeloid neoplasms. Cancer Genet Cytogenet. 2008;186:127–9.PubMedCrossRef
19.
Zurück zum Zitat Kim SY, Oh B, She CJ, Kim HK, Jeon YK, Shin MG. 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. Leuk Res. 2011;35:30–4.CrossRef Kim SY, Oh B, She CJ, Kim HK, Jeon YK, Shin MG. 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. Leuk Res. 2011;35:30–4.CrossRef
20.
Zurück zum Zitat Li F, Zhai YP, Tang YM, Wang LP, Wan PJ. Identification of a novel partner gene, TPR, fused to FGFR1 in 8p11 myeloproliferative syndrome. Genes Chromosom Cancer. 2012;51:890–7.PubMedCrossRef Li F, Zhai YP, Tang YM, Wang LP, Wan PJ. Identification of a novel partner gene, TPR, fused to FGFR1 in 8p11 myeloproliferative syndrome. Genes Chromosom Cancer. 2012;51:890–7.PubMedCrossRef
21.
Zurück zum Zitat Yoshida C, Takeuchi M, Sadahira Y. A novel t(1;8)(q25;p11.2) translocation associated with 8p11 myeloproliferative syndrome. Br J Haematol. 2012;156:271–3.PubMedCrossRef Yoshida C, Takeuchi M, Sadahira Y. A novel t(1;8)(q25;p11.2) translocation associated with 8p11 myeloproliferative syndrome. Br J Haematol. 2012;156:271–3.PubMedCrossRef
22.
Zurück zum Zitat Onozawa M, Ohmura K, Ibata M, Iwasaki J, Okada K, Kasahara I, et al. The 8p11 myeloproliferative syndrome owing to rare FGFR1OP2-FGFR1 fusion. Eur J Haematol. 2011;86:347–9.PubMedCrossRef Onozawa M, Ohmura K, Ibata M, Iwasaki J, Okada K, Kasahara I, et al. The 8p11 myeloproliferative syndrome owing to rare FGFR1OP2-FGFR1 fusion. Eur J Haematol. 2011;86:347–9.PubMedCrossRef
23.
Zurück zum Zitat Bae SY, Kim JS, Han EA, Lee HJ, Ryeu BJ, Lee KN, et al. Cytogenetic abnormality involving 8p11.2 in T-lymphoblastic lymphoma: report of a new case. Cancer Genet Cytogenet. 2009;191:57–8.PubMedCrossRef Bae SY, Kim JS, Han EA, Lee HJ, Ryeu BJ, Lee KN, et al. Cytogenetic abnormality involving 8p11.2 in T-lymphoblastic lymphoma: report of a new case. Cancer Genet Cytogenet. 2009;191:57–8.PubMedCrossRef
Metadaten
Titel
Acute myeloid leukemia associated with FGFR1 abnormalities
verfasst von
Hyeyoung Lee
Myungshin Kim
Jihyang Lim
Yonggoo Kim
Kyungja Han
Byung-Sik Cho
Hee-Je Kim
Publikationsdatum
01.06.2013
Verlag
Springer Japan
Erschienen in
International Journal of Hematology / Ausgabe 6/2013
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-013-1337-5

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