Identification of a novel partner gene, <i>TPR</i>, fused to <i>FGFR1</i> in 8p11 myeloproliferative syndrome

Li, Feng; Zhai, Yong‐Ping; Tang, Yong; Wang, Liping; Wan, Pin-Jun

doi:10.1002/gcc.21973

Cited by 35 publications

(35 citation statements)

References 30 publications

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“…Exceto para pacientes que ocasionalmente sofreram transplante de medula óssea ou célula tronco periférico esses pacientes geralmente desenvolveram e sucumbiram para leucemia mieloide aguda. O distúrbio é ofensivo e a sobrevida é muito curta beirando os 12 meses (LI, FENG, 2012;OLABODE et al, 2014;MALLI, 2016).…”

Section: Síndromes Mieloproliferativas Não-classificáveis (Smnc)unclassified

Painel Das Mutações Para as Síndromes Mieloproliferativas

Ribeiro¹,

Alves²

2018

PIC

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A complexidade e demora da caracterização diagnóstica para as Síndromes Mieloproliferativas Crônicas (SMPCs) fundamenta-se na semelhança clínico- patológica entre elas. Entretanto, a mieloproliferação das células tronco hematopoiéticas relacionada às SMPCs não deriva de uma mesma mutação para todos os casos, podendo ser estabelecido um grupo heterogêneo em relação aos marcadores moleculares, além da vantagem dessas alterações estarem presentes mesmo em fase precoce e na ausência de manifestações clínicas. Nesse intuito, os objetivos dessa pesquisa foram definir as principais mutações relacionadas às SMPCs, identificando o perfil clínico, fisiopatológico, laboratorial e molecular das desordens mieloproliferativas crônicas, a fim de elaborar um painel das mutações como ferramenta adicional para o diagnóstico das SMPCs. Este estudo foi realizado através de uma revisão bibliográfica em uma abordagem qualitativa e exploratória, tendo sido selecionados artigos nas línguas inglesa e portuguesa encontrados nas fontes indexadas: Scielo, Bireme, Medline, Pubmed, no período de 2000 a 2017, além de livros referência no assunto pertencentes ao acervo da biblioteca do Centro Universitário de Brasília (UniCEUB). A mutação mais prevalente entre as SMPCs é a que ocorre no gene Janus Quinase (JAK). Contudo, o atual marcador molecular mais relevante para o diagnóstico diferencial entre as SMPCs é a mutação que leva a fusão dos genes promotores BCR-ABL, dando origem ao cromossomo Philadélfia, característico da Leucemia Mielóide Crônica, a SMPC mais prevalente no mundo. Outras mutações com menor incidência podem ser identificadas entre as SMPCs, são elas: as associadas ao gene MPL (W515K, W515K e S505N); as mutações somáticas no gene caltireticulina (CARL); a mutação do gene supressor Ten Eleven Translocation 2 (TET2); a mutação associada a fusão dos genes FIP1L1-PDGFRA; e a mutação no códon D816V do gene KIT. Essas alterações gênicas são responsáveis por desencadear o processo fisiopatológico da proliferação dos componentes hematopoiéticos que, por vezes apresentam-se com pouca ou nenhuma diferença morfológica entre si. Por isso, a contribuição de tais marcadores moleculares vem sendo cada vez mais reconhecida para a caracterização das SMPCs, a ponto da presença de alguns deles já estarem sendo utilizados e citados como parte dos critérios diagnósticos pela Organização Mundial de Saúde. Acredita- se que outras mutações possam estar associadas às SMPCs visto a observação que ainda existem dentro deste grupo as Síndromes Mieloproliferativas Não-Classificáveis. Assim, pesquisas nessa temática devem ser incentivadas, todavia, fatores limitantes são levantados em questão como: o custo financeiro das técnicas moleculares e a raridade dessas síndromes, que associada a uma manifestação clínica em idade avançada, torna-se, muitas vezes, um fator impeditivo

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Section: Síndromes Mieloproliferativas Não-classificáveis (Smnc)unclassified

Painel Das Mutações Para as Síndromes Mieloproliferativas

Ribeiro¹,

Alves²

2018

PIC

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“…The 2008 WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues designated EMS as ‘myeloid and lymphoid neoplasms with FGFR1 abnormalities' [3]. EMS is an aggressive disease that can rapidly transform into acute leukemia [4]. EMS is defined by molecular disruption of the FGFR1 gene at the 8p11-12 chromosome locus [5].…”

Section: Introductionmentioning

confidence: 99%

“…EMS is defined by molecular disruption of the FGFR1 gene at the 8p11-12 chromosome locus [5]. Molecular disruption of the FGFR1 gene is created by chromosomal translocation or an insertion at the FGFR1 gene locus [4,5]. Various partner genes are associated with FGFR1 gene translocation or insertion [4,5].…”

Section: Introductionmentioning

confidence: 99%

“…Molecular disruption of the FGFR1 gene is created by chromosomal translocation or an insertion at the FGFR1 gene locus [4,5]. Various partner genes are associated with FGFR1 gene translocation or insertion [4,5]. To date, 13 partner genes have been identified in EMS, including ZMYM2 (13q12), CEP110 (9q33), FGFR1OP1 (6q27), BCR (22q11), HERVK (19q13), FGFR1OP2 (12p11), TRIM24 (7q34), LRRFIP1 (2q37), MYO18A (17q11), CPSF6 (12q15), NUP98 (11p15), CUX1 (7q22), and TPR (1q25) [4,5,6].…”

Section: Introductionmentioning

confidence: 99%

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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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“…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].…”

mentioning

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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Identification of a novel partner gene, TPR, fused to FGFR1 in 8p11 myeloproliferative syndrome

Cited by 35 publications

References 30 publications

Painel Das Mutações Para as Síndromes Mieloproliferativas

Painel Das Mutações Para as Síndromes Mieloproliferativas

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

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

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