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Entity | Pulmonary chondroid hamartoma |
Disease | benign tumor of the lung |
Prognosis | good |
Cytogenetics | the most frequent rearrangement is a reciprocal balanced translocation t(6;14) (p21.3; q24); the rearrangement between chromosomes 6 and 14 can sometimes be complex, identifiable by FISH; molecular results also suggest that the translocations might be more complex than shown by conventional cytogenetics, with the presence of additional cryptic rearrangements; translocations involving partner chromosomes other than chromosome 14, such as chromosomes 1, 3, 4, 5, 10, 12, 17 have also been reported; inversions inv(6)(p21q21) or inv(6)(p21.3q26) have been described |
Hybrid/Mutated Gene | in most cases, the breakpoint was extragenic, located within a 80 kb region 3' of HMGIY; aberrant transcripts with truncation of sequences from the 3' UTR have been described; in only one case with inversion inv(6)(p21q21), a hybrid intragenic fusion has been reported: HMGIY was fused to the LAMA4 (laminin a4 chain) gene |
Abnormal Protein | the HMGIY-LAMA4 resulted from the fusion of the three HMGIY DNA-binding domains with the LAMA4 EGF-like domain |
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Oncogenesis | the exact role of HMGI(Y)-LAMA4 fusion is not established yet |
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Entity | Lipomas |
Disease | benign adipocyte tumors |
Prognosis | good |
Cytogenetics | a small subset (5-8%) of ordinary lipomas is characterized by 6p21 rearrangements, the most frequent of which being a reciprocal translocation t(3;6)(q28;p21); in contrast to other benign mesenchymal tumors with 6p21 rearrangement, there is no evidence of HMGIY rearrangements in ordinary lipomas yet; however, to be noticed, the breakpoint on 6p21 was shown to be located whithin a 80 kb region surrounding HMGIY in one lipoma case and HMGIY expression was correlated with 6p rearrangements in two ordinary lipomas and two spindle cell lipomas |
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Entity | Uterine leiomyoma |
Disease | benign mesenchymal tumors |
Prognosis | good |
Cytogenetics | approximately 40% of uterine leiomyomas present structural chromosomal rearrangements, 5% of which involve 6p abnormalities; they include t(1;6)(q23;p21), t(6;14)(p21;q24) and t(6;10)(p21;q22) as well as inversions and translocations involving other chromosomal partners; the rearrangements are sometimes complex, only identifiable by FISH analysis |
Hybrid/Mutated Gene | no hybrid gene has been described yet; as for other mesenchymal tumors, the breakpoint was extragenic, located within a 80 kb region 3' of HMGIY; one case of aberrant transcript with truncation of 1295 bp from the 3' UTR has been described |
Abnormal Protein | HMGIY mRNA and protein levels do not always correlate, suggesting that post-transcriptional mechanisms are involved in the regulation of HMGIY |
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Entity | Endometrial polyps |
Disease | uterine benign tumors |
Prognosis | good |
Cytogenetics | several chromosomal abnormalities involving the 6p21.3 region, including translocations, deletions, inversions have been described; various chromosomal partner regions, such as 14q24, 20q13, 2q35, 10q22, 8q12, 1p32, 7p15, 15q21, have been described to be associated with 6p21.3 in reciprocal translocations. |
Hybrid/Mutated Gene | no hybrid gene has been described yet; as for other mesenchymal tumors, the breakpoint is extragenic, located within a 80 kb region 3' of HMGIY |
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Entity | Hamartoma of the breast |
Disease | benign tumor-like nodule of the breast, also called adenolipoma |
Prognosis | good |
Cytogenetics | one case with a t(1 ;6)(p21 ;21), involving the HMGIY gene has been described |
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Entity | Microfollicular adenoma of the thyroid |
Disease | epithelial tumors |
Prognosis | favorable |
Cytogenetics | one case with a t(1;6)(p35;21) correlated with an overexpression of HMGIY has been described |
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Expression of HMGI(Y) proteins in squamous intraepithelial and invasive lesions of the uterine cervix. |
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Cancer research. 1998 ; 58 (3) : 426-431. |
PMID 9458084 |
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Differential in vivo modifications of the HMGI(Y) nonhistone chromatin proteins modulate nucleosome and DNA interactions. |
Banks GC, Li Y, Reeves R |
Biochemistry. 2000 ; 39 (28) : 8333-8346. |
PMID 10889043 |
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High level expression of the HMGI (Y) gene during embryonic development. |
Chiappetta G, Avantaggiato V, Visconti R, Fedele M, Battista S, Trapasso F, Merciai BM, Fidanza V, Giancotti V, Santoro M, Simeone A, Fusco A |
Oncogene. 1996 ; 13 (11) : 2439-2446. |
PMID 8957086 |
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Involvement of the HMGI(Y) gene in a microfollicular adenoma of the thyroid. |
Dal Cin P, Fusco A, Belge G, Chiappetta G, Fedele M, Pauwels P, Bullerdiek J, Van den Berghe H |
Genes, chromosomes & cancer. 1999 ; 24 (3) : 286-289. |
PMID 10451711 |
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Hamartoma of the breast with involvement of 6p21 and rearrangement of HMGIY. |
Dal Cin P, Wanschura S, Christiaens MR, Van den Berghe I, Moerman P, Polito P, Kazmierczak B, Bullerdiek J, Van den Berghe H |
Genes, chromosomes & cancer. 1997 ; 20 (1) : 90-92. |
PMID 9290959 |
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Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. |
Friedmann M, Holth LT, Zoghbi HY, Reeves R |
Nucleic acids research. 1993 ; 21 (18) : 4259-4267. |
PMID 8414980 |
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Chromosomal translocations in benign tumors: the HMGI proteins. |
Hess JL |
American journal of clinical pathology. 1998 ; 109 (3) : 251-261. |
PMID 9495195 |
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A high frequency of tumors with rearrangements of genes of the HMGI(Y) family in a series of 191 pulmonary chondroid hamartomas. |
Kazmierczak B, Meyer-Bolte K, Tran KH, Wöckel W, Breightman I, Rosigkeit J, Bartnitzke S, Bullerdiek J |
Genes, chromosomes & cancer. 1999 ; 26 (2) : 125-133. |
PMID 10469450 |
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Misexpression of wild-type and truncated isoforms of the high-mobility group I proteins HMGI-C and HMGI(Y) in uterine leiomyomas. |
Klotzbü M, Wasserfall A, Fuhrmann U |
The American journal of pathology. 1999 ; 155 (5) : 1535-1542. |
PMID 10550310 |
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Intranuclear distribution of HMGI/Y proteins. An immunocytochemical study. |
Martelli AM, Riccio M, Bareggi R, Manfioletti G, Tabellini G, Baldini G, Narducci P, Giancotti V |
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 1998 ; 46 (7) : 863-864. |
PMID 9632746 |
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[Genetics of uterine leiomyomata] |
Pedeutour F, Ligon AH, Morton CC |
Bulletin du cancer. 1999 ; 86 (11) : 920-928. |
PMID 10586108 |
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A role for the architectural transcription factors HMGI(Y) in cytokine gene transcription in T cells. |
Shannon MF, Himes SR, Attema J |
Immunology and cell biology. 1998 ; 76 (5) : 461-466. |
PMID 9797468 |
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Expression of HMGIY in three uterine leiomyomata with complex rearrangements of chromosome 6. |
Sornberger KS, Weremowicz S, Williams AJ, Quade BJ, Ligon AH, Pedeutour F, Vanni R, Morton CC |
Cancer genetics and cytogenetics. 1999 ; 114 (1) : 9-16. |
PMID 10526529 |
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Expression of HMGI-C and HMGI(Y) in ordinary lipoma and atypical lipomatous tumors: immunohistochemical reactivity correlates with karyotypic alterations. |
Tallini G, Dal Cin P, Rhoden KJ, Chiapetta G, Manfioletti G, Giancotti V, Fusco A, Van den Berghe H, Sciot R |
The American journal of pathology. 1997 ; 151 (1) : 37-43. |
PMID 9212729 |
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HMGI-C and HMGI(Y) immunoreactivity correlates with cytogenetic abnormalities in lipomas, pulmonary chondroid hamartomas, endometrial polyps, and uterine leiomyomas and is compatible with rearrangement of the HMGI-C and HMGI(Y) genes. |
Tallini G, Vanni R, Manfioletti G, Kazmierczak B, Faa G, Pauwels P, Bullerdiek J, Giancotti V, Van Den Berghe H, Dal Cin P |
Laboratory investigation; a journal of technical methods and pathology. 2000 ; 80 (3) : 359-369. |
PMID 10744071 |
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Misexpression of disrupted HMGI architectural factors activates alternative pathways of tumorigenesis. |
Tkachenko A, Ashar HR, Meloni AM, Sandberg AA, Chada KK |
Cancer research. 1997 ; 57 (11) : 2276-2280. |
PMID 9187132 |
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HMGI(Y) expression in human uterine leiomyomata. Involvement of another high-mobility group architectural factor in a benign neoplasm. |
Williams AJ, Powell WL, Collins T, Morton CC |
The American journal of pathology. 1997 ; 150 (3) : 911-918. |
PMID 9060829 |
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HMGI(Y) activation by chromosome 6p21 rearrangements in multilineage mesenchymal cells from pulmonary hamartoma. |
Xiao S, Lux ML, Reeves R, Hudson TJ, Fletcher JA |
The American journal of pathology. 1997 ; 150 (3) : 901-910. |
PMID 9060828 |
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The role of HMG I(Y) in the assembly and function of the IFN-beta enhanceosome. |
Yie J, Merika M, Munshi N, Chen G, Thanos D |
The EMBO journal. 1999 ; 18 (11) : 3074-3089. |
PMID 10357819 |
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