Recombinations of chromosomal bands 6p21 and 14q24 characterise pulmonary hamartomas

Johansson, Maria; Dietrich, Claudia U.; Mandahl, Nils; Hambraeus, Göran; Johansson, Leif; Clausen, Per P.; Mitelman, Felix; Heim, Sverre

doi:10.1038/bjc.1993.231

Cited by 85 publications

(34 citation statements)

References 22 publications

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“…111 In particular, approximately 25% of pulmonary hamartomas show rearrangements of this region. 112,113 Recently, Xiao et al 36 reported rearrangements in four pulmonary chondroid hamartomas. One of these cases, with a pericentric inversion of chromosome 6 [inv (6) (p21;q21)], showed a breakpoint :h 1998…”

Section: Rearrangement Of Hmgi-c and Hmgi(y) Genes In Human Tumorsmentioning

confidence: 99%

Chromosomal Translocations in Benign Tumors:The HMGI Proteins

Hess

1998

Am J Clin Pathol

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The high-mobility group (HMG) proteins are a family of nonhistone chromatin-associated proteins that have an important role in regulating chromatin architecture, as well as in regulating gene expression. The gene encoding one HMG protein, HMGI-C, is frequently rearranged or overexpressed by chromosomal translocations in common benign mesenchymal tumors including lipomas, leiomyomas, fibroadenomas, pleomorphic adenomas, aggressive angiomyxomas, and pulmonary hamartomas. The HMGI-C translocations involve many different translocation partners and are remarkable for their low risk of progression to malignancy.Since the initial recognition of the Philadelphia chromosome 1 and the subsequent identification of the BCR-ABL fusion gene resulting from the t(9;22), 2 a large number of chromosomal translocations have been identified in malignant human tumors. Much of the early progress in this field was in the area of hematologic malignant neoplasms.3-5 Cloning of the break points in these translocations led to the recognition of two general mechanisms of oncogenesis. Recently, another member of this subfamily, HMGKY), has also been shown to be rearranged in lipomas and pulmonary chondroid hamartomas. Given the high frequency of these benign mesenchymal tumors, it is likely that translocations involving the HMGI subfamily are one of the most common chromosomal rearrangements in human neoplasia. The HMG proteins are reviewed with an emphasis on the HMGI subfamily, and the potential role of these proteins in human tumorigenesis is discussed.

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Section: Rearrangement Of Hmgi-c and Hmgi(y) Genes In Human Tumorsmentioning

confidence: 99%

Chromosomal Translocations in Benign Tumors:The HMGI Proteins

Hess

1998

Am J Clin Pathol

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“…Pulmonary chondroid hamartomas (PCHs) are the most common benign lung tumors consisting of cartilage, undifferentiated mesenchymal cells, smooth muscle cells, adipocytes, and non-neoplastic epithelium. Cytogenetic studies of this histologically heterogeneous tumor entity revealed a "hot spot" in chromosome band 14q23 → q24 mostly affected by aberrations involving 6p21 or 12q15 (Johansson et al, 1993;Kazmierczak et al, 1999), chromosome regions harboring two closely related members of the high mobility group protein gene family A, i.e. HMGIY and HMGIC.…”

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confidence: 99%

Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma

Blank

Schoenmakers

Rogalla

et al. 2001

Cytogenet Genome Res

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Rearrangements involving chromosome region 14q23→q24 represent a main cytogenetic subgroup in a variety of benign solid tumors. Recently, in uterine leiomyomas containing the classical t(12;14)(q15;q23→q24), the primary chromosome 14 target gene was identified as the protein kinase-encoding gene RAD51L1. In this report we show that RAD51L1 is also involved in the frequently ocurring t(6;14) (p21;q23→q24) in pulmonary chondroid hamartomas.

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“…The 6p21.3 region has been also associated with neoplasia, as a number of chromosomal rearrangements with breakpoints have been observed in various human cancers (Johansson et al 1993;Williams et al 1997;Xiao et al 1997). Several genes believed to be involved directly in cancer have been physically mapped within the 6p21.2-21.3 region.…”

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confidence: 99%

Construction of a High-Resolution 2.5-Mb Transcript Map of the Human 6p21.2–6p21.3 Region Immediately Centromeric of the Major Histocompatibility Complex

Tripodis

Palmer²,

Phillips³

et al. 2000

Genome Res.

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We have constructed a 2.5-Mb physical and transcription map that spans the human 6p21.2-6p21.3 region and includes the centromeric end of the MHC, using a combination of techniques. In total 88 transcription units including exons, cDNAs, and cDNA contigs were characterized and 60 were confidently positioned on the physical map. These include a number of genes encoding nuclear and splicing factors (Ndr kinase, HSU09564, HSRP20); cell cycle, DNA packaging, and apoptosis related [p21, HMGI(Y), BAK]; immune response (CSBP, SAPK4); transcription activators and zinc finger-containing genes (TEF-5, ZNF76); embryogenesis related (Csa-19); cell signaling (DIPP); structural (HSET), and other genes (TULP1, HSPRARD, DEF-6, EO6811, cyclophilin), as well as a number of RP genes and pseudogenes (RPS10, RPS12-like, RPL12-like, RPL35-like). Furthermore, several novel genes (a Br140-like, a G2S-like, a FBN2-like, a ZNF-like, and B1/KIAA0229) have been identified, as well as cDNAs and cDNA contigs. The detailed map of the gene content of this chromosomal segment provides a number of candidate genes, which may be involved in several biological processes that have been associated with this region, such as spermatogenesis, development, embryogenesis, and neoplasia. The data provide useful tools for synteny studies between mice and humans, for genome structure analysis, gene density comparisons, and studies of nucleotide composition, of different isochores and Giemsa light and Giemsa dark bands.

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Recombinations of chromosomal bands 6p21 and 14q24 characterise pulmonary hamartomas

Cited by 85 publications

References 22 publications

Chromosomal Translocations in Benign Tumors:The HMGI Proteins

Chromosomal Translocations in Benign Tumors:The HMGI Proteins

Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma

Construction of a High-Resolution 2.5-Mb Transcript Map of the Human 6p21.2–6p21.3 Region Immediately Centromeric of the Major Histocompatibility Complex

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