| 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 |
| | |
| 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 |
| | |
| 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 |
| | |
| 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 |
| | |
| 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 |
| | |
| 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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