Translocation (8;12) in a patient with agnogenic myeloid metaplasia

Borrego, Salud; Antiñolo, G; Martín-Noya, Antonio; Parody, Rocío

doi:10.1016/0165-4608(93)90030-p

Cited by 6 publications

(2 citation statements)

References 4 publications

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“…In about half the cases, the myeloid progenitors bear nonrandom karyotype abnormalities, mainly del 13q, del 20q, and trisomy 8 (Demory et al, 1988;Reilly et al, 2002). A balanced translocation is a relatively rare event, but translocations involving chromosomal arm 12q have been described in MMM (Przepiorka et al, 1988;Borrego et al, 1993;Andrieux et al, 2002). These translocations fuse the 12q15-q21 chromosomal band with different partner chromosomes.…”

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confidence: 96%

Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia

Andrieux

Demory

Dupriez

et al. 2003

Genes Chromosomes & Cancer

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Among cytogenetic studies of patients affected with myelofibrosis with myeloid metaplasia (MMM), a rare chronic myeloproliferative disorder, we found several reports of structural abnormalities of the long arm of chromosome 12. Two MMM patients had a balanced translocation involving 12q: t(4;12)(q32;q15) and t(5;12)(p14;q15), respectively. FISH (fluorescence in situ hybridization) analysis showed that BAC (bacterial artificial chromosome) RP11-366L20 overlaps the breakpoint in both cases. A gene, HMGA2, most of which is included in that BAC, thus was identified as a potential candidate. Using reserves transcriptase-polymerase chain reaction (RT-PCR), we looked for expression of HMGA2 in blood mononuclear cells from these 2 patients and demonstrated a transcript in both. Moreover, we found the gene expressed in the hematopoietic cells of 10 of 10 additional patients bearing no 12q anomalies. HMGA2, not expressed in normal subjects, is implicated in benign solid tumors such as lipomas, leiomyomas, and other rare tumors of mesenchymal origin. We postulate that its dysregulation and overexpression in myeloid progenitors contribute also to the pathogenesis of MMM.

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confidence: 96%

Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia

Andrieux

Demory

Dupriez

et al. 2003

Genes Chromosomes & Cancer

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“…Balanced translocations in myelofibrosis are very rare events, though several isolated case reports have been published. [6][7][8][9][10][11][12][13][14] Nevertheless, these limited reports suggest that the involvement of chromosome 12 might be of pathogenetic relevance, and this conclusion was recently strengthened by a study that documented structural abnormalities in the long arm of chromosome 12 (12q) in seven of 205 cases of CIMF. 7) Furthermore, chromosome 12 seems to be commonly implicated in structural balanced translocation, whereas deletion and inversion are less common.…”

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confidence: 96%

A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

Cho

Hyun

2006

Korean J Hematol

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Jumping translocation (JT) has been defined as the translocation involving one donor chromosome and multiple recipient chromosomes in different cell lines in the same patient. This is rarely observed in various hematologic malignancies. Chronic idiopathic myelofibrosis (CIMF) is considered to be a clonal hematopoietic stem cell disorder, and clonal cytogenetic abnormalities have been reported to occur in about 30∼60% of patients. We report here on a case of CIMF with JT involving 12q21; t(5;12)(q13;q21) and t(12;12)(p13;q21) as the sole aberration. A pathogenetic relation between CIMF and the 12q rearrangement has been suggested in the literature, but neither the JT in CIMF nor the JT of 12q21 has been reported on. This is the first report of JT involving 12q21 in a patient with CIMF (ED note: nice writing).

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The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint

Nunoda

Sashida

Ohyashiki

et al. 2006

Cancer Genetics and Cytogenetics

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Translocation (8;12) in a patient with agnogenic myeloid metaplasia

Cited by 6 publications

References 4 publications

Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia

Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia

A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint

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