t(3;5)(q21;q31) in a myelodysplastic syndrome

Sharp, Ronald A.; Robertson, Janet; Heppleston, A.

doi:10.1016/0145-2126(87)90035-x

Cited by 10 publications

(3 citation statements)

References 8 publications

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“…In addition to the t(5;12), several other cases with translocations of 5q31–5q33 have been described [10, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40]. To date three other partner genes have been cloned from patients who presented with a CML/CMML-like disease: the t(5;7)(q33;q11), t(5;10)(q33;q21.2) and t(5;17)(q33;p13) fuse HIP1 , H4/D10S170 and Rab5 to PDGFRB (fig.…”

Section: Introductionmentioning

confidence: 99%

Myeloproliferative Disorders with Translocations of Chromosome 5q31–35: Role of the Platelet-Derived Growth Factor Receptor Beta

Steer

Cross²

2002

Acta Haematol

158

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Acquired reciprocal chromosomal translocations that involve chromosome bands 5q31–33 are associated with a significant minority of patients with BCR-ABL-negative chronic myeloid leukemias. The most common abnormality is the t(5;12)(q33;p13), which fuses the ETV6/TEL gene to the platelet-derived growth factor receptor-β (PDGFRB), a receptor tyrosine kinase that maps to 5q33. PDGFRB is disrupted by other translocations and to date four additional partner genes (H4, HIP1, CEV14 and Rab5) have been reported. Clinically, most patients present with a myeloproliferative disorder (MPD) with eosinophilia, eosinophilic leukemia or chronic myelomonocytic leukemia and thus fall into the broader category of myeloproliferative disorders/myelodysplastic syndromes (MPD/MDS). With the advent of targeted signal transduction therapy, patients with rearrangement of PDGFRB might be better classified as a distinct subgroup of MPD/MDS.

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Section: Introductionmentioning

confidence: 99%

Myeloproliferative Disorders with Translocations of Chromosome 5q31–35: Role of the Platelet-Derived Growth Factor Receptor Beta

Steer

Cross²

2002

Acta Haematol

158

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“…Deletion of this band has been used frequently in the diagnosis of myeloid disorders (Paietta et al, 1987;Chandrasekharappa et al, 1990), and has been linked to susceptibility genes for bronchial hyperresponsiveness and asthma (Levitt and Holroyd, 1995). Several translocation breakpoints conferring leukemia have also been observed in this region (Sharp et al, 1987;Nakagawa et al, 1991;Knuutila et al, 1993). Chromosome band 10q22 contains the gene cluster encoding glutamate dehydrogenase (Anagnou et al, 1993) and the glycoprotein prosaposin (Bar-Am et al, 1996) and duplications and/or translocations have been reported in this region in humans.…”

Section: Introductionmentioning

confidence: 99%

Syntenic homology of human unique DNA sequences within chromossome regions 5q31, 10q22, 13q32-33 and 19q13.1 in the great apes

2000

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Homologies between chromosome banding patterns and DNA sequences in the great apes and humans suggest an apparent common origin for these two lineages. The availability of DNA probes for specific regions of human chromosomes (5q31, 10q22, 13q32-33 and 19q13.1) led us to cross-hybridize these to chimpanzee (Pan troglodytes, PTR), gorilla (Gorilla gorilla, GGO) and orangutan (Pongo pygmaeus, PPY) chromosomes in a search for equivalent regions in the great apes. Positive hybridization signals to the chromosome 5q31-specific DNA probe were observed at HSA 5q31, PTR 4q31, GGO 4q31 and PPY 4q31, while fluorescent signals using the chromosome 10q22-specific DNA probe were noted at HSA 10q22, PTR 8q22, GGO 8q22 and PPY 7q22. The chromosome arms showing hybridization signals to the Quint-EssentialTM 13-specific DNA probe were identified as HSA 13q32-33, PTR 14q32-33, GGO 14q32-33 and PPY 14q32-33, while those presenting hybridization signals to the chromosome 19q13.1-specific DNA probe were identified as HSA 19q13.1, PTR 20q13, GGO 20q13 and PPY 20q13. All four probes presumably hybridized to homologous chromosomal locations in the apes, which suggests a homology of certain unique DNA sequences among hominoid species.
Homologias entre os padrões de bandamento de cromossomos e seqüências de DNA em grandes macacos e humanos sugerem uma aparente origem comum para estas duas linhagens. A disponibilidade de sondas de DNA para regiões específicas de cromossomos humanos (5q31, 10q22, 13q32-33 e 19q13.1) nos levou a realizar hibridação cruzada com cromossomos de chimpanzé (Pan troglodytes, PTR), gorila (Gorilla gorilla, GGO) e orangotango (Pongo pygmaeus, PPY) em um pesquisa de regiões equivalentes em grandes macacos. Sinais positivos de hibridação para a sonda de DNA específica para o cromossomo 5q31 foram observados em HSA 5q31, PTR 4q31, GGO 4q31 e PPY 4q31, enquanto que sinais fluorescentes usando a sonda de DNA específica para o cromossomo 10q22 foram notados em HSA 10q22, PTR 8q22, GGO 8q22 e PPY 7q22. Os braços de cromossomos apresentando sinais de hibridação para a sonda de DNA específica para Quint-EssentialÒ 13 foram identificados como HSA 13q32-33, PTR 14q32-33, GGO 14q32-33 e PPY 14q32-33, enquanto que aqueles apresentando sinais de hibridação para sonda de DNA específica para o cromossomo 19q13.1 foram identificados como HSA 19q13.1, PTR 20q13, GGO 20q13 e PPY 20q13. Todas as quatro sondas presumivelmente hidridizaram para locais cromossômicos homólogos nos símios, o que sugere uma homologia de certas seqüências únicas de DNA entre as espécies hominóides

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“…are available (Oshimura et al, 1976;Dewald, 1984;Bitter et al, 1985;Testa et al, 1985;Werner-Favre et al, 1985;Pi and Kalousek, 1986;Smadja et al, 1986;McCarthy et al, 1987;Sharp et al, 1987;Akiyoshi et al, 1991;Katz et al, 1992;Solé et al, 1992;Secker-Walker et al, 1995;Wong and Kwong, 1995;Groupe Français de Cytogénétique Hématologique, 1996;Dong et al, 1998;Mazzella et al, 1998;Misawa et al, 1998;Green et al, 1999;Berger et al, 2006;Lugthart et al, 2010). We have excluded from this review a case of acute lymphoblastic leukemia (Chen et al, 1992).…”

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confidence: 99%