Submicroscopic Deletion of &lt;i&gt;FGFR1&lt;/i&gt; Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with &lt;i&gt;ZMYM2-FGFR1&lt;/i&gt; Rearrangements: A Case Study

Yang, John Jeongseok; Park, Tae Sung; Choi, Jong Rak; Park, Seojin; Cho, Sun Young; Jun, Kyung Ran; Kim, Hye Ran; Lee, Jeong Nyeo; Oh, Seung Hwan; Lee, Sanggyu; Kim, Bomi; Marschalek, Rolf; Meyer, Claus

doi:10.1159/000334707

Cited by 11 publications

(7 citation statements)

References 37 publications

(16 reference statements)

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“…The 2008 World Health Organization revision designated EMS to a new category of ‘myeloid and lymphoid neoplasms associated with FGFR1 abnormalities' [3]. Several partner genes that foster FGFR1 dimerization and activation have been reported, each fusing at 8p11: ZNF198 (13q12), CEP110 (9q33), LRRFIP1 (2q37), FGFR1OP (6q27), TIF1 (7q34), CUX1 (7q22), 11p15, FGFR1OP2 (12p11), CPSF6 (12q15), MYO18A (17q11), 17q25, HERVK (19q13) and BCR (22q11) [4]. Here, we describe an unusual case of a patient with long-standing EMS with t(7;8), initially diagnosed as acute myeloid leukemia (AML) with trisomy 21, who achieved sustainable molecular and cytogenetic remission with conventional chemotherapy.…”

Section: Figmentioning

confidence: 99%

8p11 Myeloproliferative Syndrome with t(7;8) Translocation Presenting as Acute Myeloid Leukemia: A Case Report and Literature Review

Byun

Lee²,

Bang³

et al. 2016

Acta Haematol

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Section: Figmentioning

confidence: 99%

8p11 Myeloproliferative Syndrome with t(7;8) Translocation Presenting as Acute Myeloid Leukemia: A Case Report and Literature Review

Byun

Lee²,

Bang³

et al. 2016

Acta Haematol

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“…FISH using home-brew probes and 5 0 rapid amplification of cDNA end PCR with sequences analysis have been used [6,7]. Long-distance PCR and long-distance inverse PCR were introduced in a previous report as diagnostic tools capable of identifying the corresponding partner genes of FGFR1 [8].…”

Section: To the Editormentioning

confidence: 99%

Reply to the letter by Yang et al. RE: acute myeloid leukemia associated with FGFR1 abnormalities

2013

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We would like to thank for Yang and his colleagues' insightful comments on our work. In our previous manuscript, we described three cases of 8p11 myeloproliferative syndrome (EMS) that initially presented as acute myeloid leukemia (AML). Two of these-t(8;13)(p11.2;q12) and t(8;9)(p11.2;q33)-were cytogenetically identified, but one with variant inv(8)(p11.2q13)was detected only by fluorescence in situ hybridization (FISH) [1]. A number of other EMS cases presenting as AML have been reported, and new therapeutic strategies are being introduced [2-4]. Many EMS cases are initially recognized by conventional cytogenetics. FISH can confirm the majority of EMS and determine submicroscopic deletions, but in a few cases did not detect the rearrangement [5]. Identification and characterization of fusion genes are clinically important to the understanding of disease pathogenesis and selection of the monitoring method [3]. FISH using home-brew probes and 5 0 rapid amplification of cDNA end PCR with sequences analysis have been used [6,7]. Long-distance PCR and long-distance inverse PCR were introduced in a previous report as diagnostic tools capable of identifying the corresponding partner genes of FGFR1 [8].Clearly, international collaborative studies, including distinct ethnic entities, aimed at elucidating poorly understood aspects of EMS such as incidence, clinical and laboratory manifestation, genetic aberrations including submicroscopic deletion and their association with pathogenesis and prognosis, are warranted.

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“…This disease presents in various forms, including myeloproliferative neoplasm (MPN) combined with lymphoproliferative disease, various types of acute leukemia, T- or B-cell lymphoblastic lymphoma, and MPN alone [2]. The 2008 WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues designated EMS as ‘myeloid and lymphoid neoplasms with FGFR1 abnormalities' [3].…”

Section: Introductionmentioning

confidence: 99%

8p11 Myeloproliferative Syndrome with t(1;8)(q25;p11.2): A Case Report and Review of the Literature

Kim

Park

et al. 2014

Acta Haematol

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8p11 myeloproliferative syndrome (EMS) is a rare disease characterized by myeloproliferative neoplasm (MPN) associated with eosinophilia and T or B lymphoblastic lymphoma/leukemia. EMS is defined by molecular disruption of the FGFR1 gene at the 8p11-12 chromosome locus, and various partner genes are associated with FGFR1 gene translocation or insertion. The different partner-FGFR1 fusion genes are associated with slightly different disease phenotypes. The present patient showed T lymphoblastic lymphoma in a cervical lymph node, involvement of malignant lymphoma in the skin, and MPN bone marrow morphology with peripheral monocytosis. Chromosome analysis of the patient showed t(1;8)(q25;p11.2). To our knowledge, only 2 cases of EMS with translocation of t(1;8)(q25;p11.2) have been previously reported. Including this case, all 3 cases with EMS with t(1;8)(q25;p11.2) showed MPN bone marrow morphology and peripheral monocytosis. These findings support that t(1;8)(q25;p11.2) is associated with peripheral monocytosis in EMS patients. Of the 2 cases of EMS with t(1;8)(q25;p11.2) which were previously reported, FGFR1 rearrangement was not confirmed in 1 case. Similarly, FGFR1 rearrangement in the present case was not detected by fluorescence in situ hybridization or reverse transcription-polymerase chain reaction. Further study is needed to identify other techniques that could be used to demonstrate FGFR1 rearrangement.

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Submicroscopic Deletion of <i>FGFR1</i> Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with <i>ZMYM2-FGFR1</i> Rearrangements: A Case Study

Cited by 11 publications

References 37 publications

8p11 Myeloproliferative Syndrome with t(7;8) Translocation Presenting as Acute Myeloid Leukemia: A Case Report and Literature Review

8p11 Myeloproliferative Syndrome with t(7;8) Translocation Presenting as Acute Myeloid Leukemia: A Case Report and Literature Review

Reply to the letter by Yang et al. RE: acute myeloid leukemia associated with FGFR1 abnormalities

8p11 Myeloproliferative Syndrome with t(1;8)(q25;p11.2): A Case Report and Review of the Literature

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