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Disease relevance of Leiomyomatosis


High impact information on Leiomyomatosis

  • Activity of fumarate hydratase is reduced in lymphoblastoid cells from individuals with leiomyomatosis [6].
  • The lack of the alpha6 chain does not obviously result in disease, in particular leiomyomatosis, as is seen in Alport patients with deletions involving the COL4A5 and COL4A6 genes [7].
  • We studied a collection of nine tumors for the expression of extracellular matrix components and found the same aberrant expression pattern as previously observed in inherited diffuse leiomyomatosis [8].
  • Disseminated peritoneal leiomyomatosis (DPL, leiomyomatosis peritonealis disseminata) is a rare condition in which multiple histologically benign smooth muscle tumorlets diffusely stud peritoneal and omental surfaces in females, predominantly of reproductive age [9].
  • We have recently isolated part of the cDNA for a novel type IV collagen, alpha 6(IV), and shown that COL4A6, the gene encoding this new chain, is deleted in Alport syndrome-associated leiomyomatosis (Zhou, J., Mochizuki, T., Smeets, H., Antignac, C., Laurila, P., de Paepe, A., Tryggvason, K., and Reeders, S. T. (1993) Science 261, 1167-1169) [10].

Chemical compound and disease context of Leiomyomatosis


Biological context of Leiomyomatosis


Anatomical context of Leiomyomatosis


Gene context of Leiomyomatosis

  • A subtype of X-linked Alport syndrome (XLAS) in which diffuse leiomyomatosis is an associated feature reflects deletion mutations involving the adjacent COL4A5 and COL4A6 genes [19].
  • Cotransmission of X-linked dominant Alport syndrome and diffuse leiomyomatosis in some families results from deletions involving the COL4A5 gene and the contiguous COL4A6 gene [20].
  • Increased hyaluronan and CD44 expressions in intravenous leiomyomatosis [21].
  • We recently identified nine individuals from two British families with multiple cutaneous and uterine leiomyomatosis with independently arising heterozygous germline deletions of 1q42.3 approximately q43 encompassing not only FH, the multiple leiomyomatosis-associated gene, but also several flanking genes, including EXO1 [22].
  • Heterozygous mutations in the fumarase (FH) gene cause the tumor predisposition syndrome hereditary leiomyomatosis and renal cell cancer (MIM 605839) [23].

Analytical, diagnostic and therapeutic context of Leiomyomatosis


  1. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. Renieri, A., Bassi, M.T., Galli, L., Zhou, J., Giani, M., De Marchi, M., Ballabio, A. Hum. Mutat. (1994) [Pubmed]
  2. Gastric transposition for esophageal replacement in children: experience with 41 consecutive cases with special emphasis on esophageal atresia. Hirschl, R.B., Yardeni, D., Oldham, K., Sherman, N., Siplovich, L., Gross, E., Udassin, R., Cohen, Z., Nagar, H., Geiger, J.D., Coran, A.G. Ann. Surg. (2002) [Pubmed]
  3. Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. Barker, K.T., Bevan, S., Wang, R., Lu, Y.J., Flanagan, A.M., Bridge, J.A., Fisher, C., Finlayson, C.J., Shipley, J., Houlston, R.S. Br. J. Cancer (2002) [Pubmed]
  4. Leuprolide acetate and intravascular leiomyomatosis. Tresukosol, D., Kudelka, A.P., Malpica, A., Varma, D.G., Edwards, C.L., Kavanagh, J.J. Obstetrics and gynecology. (1995) [Pubmed]
  5. Leiomyomatosis peritonealis disseminata and ovarian Brenner tumor associated with tamoxifen use. Bristow, R.E., Montz, F.J. Int. J. Gynecol. Cancer (2001) [Pubmed]
  6. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Tomlinson, I.P., Alam, N.A., Rowan, A.J., Barclay, E., Jaeger, E.E., Kelsell, D., Leigh, I., Gorman, P., Lamlum, H., Rahman, S., Roylance, R.R., Olpin, S., Bevan, S., Barker, K., Hearle, N., Houlston, R.S., Kiuru, M., Lehtonen, R., Karhu, A., Vilkki, S., Laiho, P., Eklund, C., Vierimaa, O., Aittomäki, K., Hietala, M., Sistonen, P., Paetau, A., Salovaara, R., Herva, R., Launonen, V., Aaltonen, L.A. Nat. Genet. (2002) [Pubmed]
  7. Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis. Zheng, K., Harvey, S., Sado, Y., Naito, I., Ninomiya, Y., Jacobs, R., Thorner, P.S. Am. J. Pathol. (1999) [Pubmed]
  8. Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus. Heidet, L., Boye, E., Cai, Y., Sado, Y., Zhang, X., Fléjou, J.F., Fékété, F., Ninomiya, Y., Gubler, M.C., Antignac, C. Am. J. Pathol. (1998) [Pubmed]
  9. Disseminated peritoneal leiomyomatosis. Clonality analysis by X chromosome inactivation and cytogenetics of a clinically benign smooth muscle proliferation. Quade, B.J., McLachlin, C.M., Soto-Wright, V., Zuckerman, J., Mutter, G.L., Morton, C.C. Am. J. Pathol. (1997) [Pubmed]
  10. Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains. Zhou, J., Ding, M., Zhao, Z., Reeders, S.T. J. Biol. Chem. (1994) [Pubmed]
  11. Luteinizing hormone receptor expression in leiomyomatosis peritonealis disseminata. Danikas, D., Goudas, V.T., Rao, C.V., Brief, D.K. Obstetrics and gynecology. (2000) [Pubmed]
  12. Progesterone-induced smooth muscle-like cells in the subperitoneal nodules produced by estrogen. Experimental approach to leiomyomatosis peritonealis disseminata. Fujii, S., Nakashima, N., Okamura, H., Takenaka, A., Kanzaki, H., Okuda, Y., Morimoto, K., Nishimura, T. Am. J. Obstet. Gynecol. (1981) [Pubmed]
  13. Long-term administration of tibolone plus gonadotropin-releasing hormone agonist for the treatment of uterine leiomyomas: effectiveness and effects on vasomotor symptoms, bone mass, and lipid profiles. Palomba, S., Affinito, P., Di Carlo, C., Bifulco, G., Nappi, C. Fertil. Steril. (1999) [Pubmed]
  14. Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene. Antignac, C., Zhou, J., Sanak, M., Cochat, P., Roussel, B., Deschênes, G., Gros, F., Knebelmann, B., Hors-Cayla, M.C., Tryggvason, K. Kidney Int. (1992) [Pubmed]
  15. Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. Alam, N.A., Olpin, S., Rowan, A., Kelsell, D., Leigh, I.M., Tomlinson, I.P., Weaver, T. The Journal of molecular diagnostics : JMD. (2005) [Pubmed]
  16. No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas. Barker, K.T., Spendlove, H.E., Banu, N.S., Bridge, J.A., Fisher, C., Shipley, J., Garrett, M., Manyonda, I., Houlston, R.S. Cancer Lett. (2006) [Pubmed]
  17. Intravenous leiomyomatosis: two cases with different routes of tumor extension. Lam, P.M., Lo, K.W., Yu, M.Y., Wong, W.S., Lau, J.Y., Arifi, A.A., Cheung, T.H. J. Vasc. Surg. (2004) [Pubmed]
  18. Intracardiac leiomyomatosis. Case report and literature review. Lo, K.W., Lau, T.K. Arch. Gynecol. Obstet. (2001) [Pubmed]
  19. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Kashtan, C.E. Medicine (Baltimore) (1999) [Pubmed]
  20. Clinical and molecular diagnosis of Alport syndrome. Kashtan, C.E. Proc. Assoc. Am. Physicians (1995) [Pubmed]
  21. Increased hyaluronan and CD44 expressions in intravenous leiomyomatosis. Chen, M.J., Peng, Y., Yang, Y.S., Huang, S.C., Chow, S.N., Torng, P.L. Acta obstetricia et gynecologica Scandinavica. (2005) [Pubmed]
  22. Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Alam, N.A., Gorman, P., Jaeger, E.E., Kelsell, D., Leigh, I.M., Ratnavel, R., Murdoch, M.E., Houlston, R.S., Aaltonen, L.A., Roylance, R.R., Tomlinson, I.P. Cancer Genet. Cytogenet. (2003) [Pubmed]
  23. Modeling tumor predisposing FH mutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile. Kokko, A., Ylisaukko-Oja, S.S., Kiuru, M., Takatalo, M.S., Salmikangas, P., Tuimala, J., Arango, D., Karhu, A., Aaltonen, L.A., Jäntti, J. Int. J. Cancer (2006) [Pubmed]
  24. Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization. Heidet, L., Cai, Y., Sado, Y., Ninomiya, Y., Thorner, P., Guicharnaud, L., Boye, E., Chauvet, V., Solal, L.C., Beziau, A., Torres, R.G., Antignac, C., Gubler, M.C. Lab. Invest. (1997) [Pubmed]
  25. Unusual abdominal tumors with intracardiac extension. Two cases with successful surgical resection. Stolf, N.A., dos Santos, G.G., Haddad, V.L. Revista do Hospital das Clínicas. (1999) [Pubmed]
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