Disease relevance of Leiomyomatosis

• Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis [1].
• METHODS: The authors retrospectively reviewed the records of 41 patients with the diagnoses of esophageal atresia (n = 26), corrosive injury (n = 8), leiomyomatosis (n = 5), and refractory gastroesophageal reflux (n = 2) who underwent gastric transposition for esophageal replacement [2].
• Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas [3].
• Based on its role in reducing the size of leiomyomas, leuprolide acetate was given as induction therapy for extensive inoperable intravascular leiomyomatosis [4].
• Although a causal link cannot be proven, this case is the second reported association between leiomyomatosis peritonealis disseminata, an ovarian Brenner tumor, and tamoxifen use for the treatment of breast carcinoma [5].

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

• BACKGROUND: Leiomyomatosis peritonealis disseminata has been attributed to estrogen stimulation and is seen only rarely in postmenopausal women [11].
• Leuprolide acetate and intravascular leiomyomatosis [4].
• CONCLUSION: Luteinizing hormone receptors were identified in leiomyomatosis peritonealis disseminata in one woman [11].
• Progesterone-induced smooth muscle-like cells in the subperitoneal nodules produced by estrogen. Experimental approach to leiomyomatosis peritonealis disseminata [12].
• OBJECTIVE: To evaluate the effects of long-term administration of GnRH agonist (GnRH-a) plus tibolone for uterine leiomyomatosis [13].

Biological context of Leiomyomatosis

• These results also suggest that leiomyomatosis might be due to the alteration of a second gene involved in smooth muscle cell proliferation, which is located upstream of the COL4A5 gene, and that there might be a contiguous gene deletion syndrome, involving at least the genes coding for congenital cataract, DL and AS [14].
• Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer [15].
• Germline mutations in Fumarate Hydratase (FH) cause the development of leiomyomas and leiomyosarcomas in the syndromes Multiple Cutaneous and Uterine Leiomyomata (MCUL1) and Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) [16].

Anatomical context of Leiomyomatosis

• We report two cases of intravenous leiomyomatosis that grew along different routes of the venous system into the inferior vena cava and the right atrium [17].
• We describe a case of intracardiac leiomyomatosis originating from the uterus, growing up in the inferior vena cava, and extending into the right ventricle [18].

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

• Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization [24].
• We report the cases of two patients, the first with leiomyosarcoma of the inferior vena cava and the other with intravenous leiomyomatosis of the uterus that showed intravascular growth up to right atrium and ventricle, who underwent successful radical resection in a one-stage procedure with the use of cardiopulmonary bypass [25].

References