Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer  Karen C. Wheeler, M.D., Dillon J. Warr, Sarah I. Warsetsky, M.D., Larry I. Barmat, M.D.  Fertility and Sterility  Volume 105, Issue 1, Pages 144-148 (January 2016) DOI: 10.1016/j.fertnstert.2015.09.034 Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Pedigree of the family with novel fumarate hydratase mutation Leu99Glufsx6, showing hereditary leiomyomatosis and renal cell cancer (HLRCC)–associated conditions. NOS = not otherwise specified. Fertility and Sterility 2016 105, 144-148DOI: (10.1016/j.fertnstert.2015.09.034) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 2 (A) magnetic resonance imaging of the enlarged uterus with multiple fibroids (asterisk) of the patient in case 1 (III-1) before her second myomectomy. (B and C) Gross pathologic specimen of (B) dominant fibroid and (C) all fibroids removed from patient III-1 at her first myomectomy. (D) Cytologic atypia and the perinuclear halo (arrow) seen in the atypical leiomyoma specimen from patient 3 (III-4). Scale bar = 30 μm. Fertility and Sterility 2016 105, 144-148DOI: (10.1016/j.fertnstert.2015.09.034) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 3 Cutaneous leiomyomas present on the forearm of patient III-4. Fertility and Sterility 2016 105, 144-148DOI: (10.1016/j.fertnstert.2015.09.034) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 4 Representation of wild-type and Leu99Gluf×6 fumarate hydratase proteins including amino acid residues critical for enzymatic function of FH. Fertility and Sterility 2016 105, 144-148DOI: (10.1016/j.fertnstert.2015.09.034) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions