Biallelic Inactivation of Fumarate Hydratase (FH) Occurs in Nonsyndromic Uterine Leiomyomas but Is Rare in Other Tumors Rainer Lehtonen, Maija Kiuru,

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Biallelic Inactivation of Fumarate Hydratase (FH) Occurs in Nonsyndromic Uterine Leiomyomas but Is Rare in Other Tumors Rainer Lehtonen, Maija Kiuru, Sakari Vanharanta, Jari Sjöberg, Leena-Maija Aaltonen, Kristiina Aittomäki, Johanna Arola, Ralf Butzow, Charis Eng, Kirsti Husgafvel-Pursiainen, Jorma Isola, Heikki Järvinen, Pasi Koivisto, Jukka-Pekka Mecklin, Päivi Peltomäki, Reijo Salovaara, Veli-Matti Wasenius, Auli Karhu, Virpi Launonen, Nina N. Nupponen, Lauri A. Aaltonen The American Journal of Pathology Volume 164, Issue 1, Pages 17-22 (January 2004) DOI: 10.1016/S0002-9440(10)63091-X Copyright © 2004 American Society for Investigative Pathology Terms and Conditions

Figure 1 LOH flanking FH locus was analyzed by two microsatellite markers. Allelic loss was observed in myoma P4M3 (b) and in P32M1 (d) by markers FH-T and FH-C, respectively. Alleles of normal tissue samples are presented above the tumor samples (a and c). Myomas from three additional individuals harbored allelic imbalance in at least one of these markers at the FH locus (data not shown). The American Journal of Pathology 2004 164, 17-22DOI: (10.1016/S0002-9440(10)63091-X) Copyright © 2004 American Society for Investigative Pathology Terms and Conditions

Figure 2 Sequences of FH mutations detected in uterine leiomyomas Ala196Thr (a) and IVS4 + 3A>G (c) and the chromatographs of the corresponding normal tissues (b and d, respectively). LOH at the splice site change (c) is noticeable by the lower wild-type allele signal in the presence of normal tissue contamination. The American Journal of Pathology 2004 164, 17-22DOI: (10.1016/S0002-9440(10)63091-X) Copyright © 2004 American Society for Investigative Pathology Terms and Conditions