Stephanie Cizek

All Publications

• Favorable Outcome of High-grade Endometrial Stromal Sarcoma in an Adolescent. Journal of pediatric hematology/oncology Hu, B., Howitt, B. E., Cizek, S., Diver, E., Hiniker, S., Crane, J., Daldrup-Link, H., Spunt, S. L. 2024

  Abstract

  High-grade endometrial stromal sarcoma is a rare and aggressive soft tissue tumor characterized by YWHAE::NUTM2A/B translocations, diagnosis at a median of 50-60 years, and a poor prognosis (overall survival 30%-40%). We describe a 16-year-old patient with high-grade endometrial stromal sarcoma and regional nodal and pulmonary metastases who is a long-term survivor after grossly complete tumor resection, intensive chemotherapy, and pelvic radiotherapy. We discovered a previously undescribed YWHAE::NUTM2E translocation in the tumor. Our patient's favorable outcome suggests that intensive multimodality therapy with curative intent is appropriate for young patients with high-grade endometrial stromal sarcoma and highlights the importance of fertility preservation.

  View details for DOI 10.1097/MPH.0000000000002865

  View details for PubMedID 38691023

• Adolescent and Young Adult Patients with Vaginal Graft-versus-Host Disease and Hematocolpos Managed with Vaginal Stents: A Case Series. Journal of pediatric and adolescent gynecology Hollond, C. S., Ganti, A., Streich-Tilles, T., Debiec, K., Galloway, A., Inneh, O., Cizek, S. 2023

  Abstract

  Vaginal stenosis can be acquired as a result of vaginal graft-versus-host disease (GVHD) in patients who have undergone hematopoietic stem cell transplant (HSCT). Little data exists to guide management of vaginal GVHD, particularly in adolescent and young adult patients. The objective of this study is to detail management of vaginal stenosis with lysis of adhesions and vaginal stent placement in three young patients with vaginal GVHD.Retrospective chart review was done for three patients with vaginal GVHD causing vaginal stenosis with hematometrocolpos. All three were treated using vaginal stent placement. Additionally, a literature review was conducted through PubMed and Google Scholar to identify 21 case reports (with a total of 35 patients) of menstrual obstruction due to GVHD.Obstructive vaginal stenosis secondary to vaginal GVHD occurred in our patients at ages 15, 16, and 24 years. Resolution of hematocolpos was obtained with lysis of vaginal adhesions with vaginal stent placement in all patients, with varying regimens of systemic and topical hormones, topical corticosteroids, and dilator therapy.Vaginal stenosis secondary to vaginal GVHD should be considered in patients with a history of allogeneic HSCT presenting with amenorrhea, especially those with a diagnosis of primary ovarian insufficiency. The use of vaginal stents, along with postoperative medical and dilator management as appropriate, may prevent re-stenosis, although more information is needed regarding efficacy of treatments.

  View details for DOI 10.1016/j.jpag.2023.09.011

  View details for PubMedID 37797789

• Pediatric and Adolescent Gynecologic Emergencies. Obstetrics and gynecology clinics of North America Cizek, S. M., Tyson, N. 2022; 49 (3): 521-536

  Abstract

  Diagnosis of gynecologic emergencies in the pediatric and adolescent population requires a high index of suspicion to avoid delayed or incorrect diagnoses. This article aims to dispel common misunderstandings and aid with diagnosis and management of 3 common pediatric and adolescent gynecologic emergencies: adnexal torsion, vulvovaginal lacerations, and nonsexually acquired genital ulcers.

  View details for DOI 10.1016/j.ogc.2022.02.017

  View details for PubMedID 36122983

• Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report. Journal of pediatric hematology/oncology Rao, R. R., Dulken, B. W., Matalon, D. R., Borensztein, M., McGuinness, M., Cizek, S. M., Bruzoni, M., Tan, S. Y., Kreimer, S. 2022

  Abstract

  Heterozygous loss-of-function variants in the suppressor of fused protein gene (SUFU) can result in Gorlin syndrome, which is characterized by an increased frequency of basal cell carcinoma, medulloblastoma, odontogenic keratocysts, as well as other tumors. We describe a case of a 5-month-old female who presented with multiple intra-abdominal leiomyomata and was found to have a likely pathogenic splice site variant in the SUFU gene. This is the first reported case of leiomyomatosis secondary to a pathogenic SUFU variant in an infant and may represent an early, atypical presentation of Gorlin syndrome.

  View details for DOI 10.1097/MPH.0000000000002454

  View details for PubMedID 35398865

• Adnexal torsion requires careful diagnosis, management Cizek, S. M. Contemporary OB/GYN. 2022 (67(3)): 16-19
• XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing. Pediatrics Kim, A., Abell, K., Johnson, J., Cizek, S., Breech, L., Ernst, M. M., Hopkin, R. J., Kennedy, K., Stanek, J., Strine, A. C., Rutter, M. M. 2020; 146 (5)

  Abstract

  We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) commercial genetic testing. This case underscores the importance of timely interdisciplinary care, including psychosocial intervention and consideration of gonadectomy, to optimize outcomes for individuals with differences of sex development. Her unique presentation highlights the implications of DTC genetic testing in a new diagnostic era and informs general pediatricians as well as specialists of nongenetic services about the value, capabilities, and limitations of DTC testing.

  View details for DOI 10.1542/peds.2019-3302

  View details for PubMedID 33060256

  View details for PubMedCentralID PMC7875095

• Adolescents and long-acting reversible contraceptives: beyond the basics. Current opinion in obstetrics & gynecology Stanton, T. n., Cizek, S. n., Tyson, N. n. 2020

  Abstract

  The current article explores some of the more complex subtopics concerning adolescents and long-acting reversible contraceptives (LARC).Recent research has highlighted ways in which LARC provision can be optimized in adolescents and has identified gaps in adolescent LARC access and utilization.Contraceptive counseling for adolescents should be patient-centered, not necessarily LARC-first, to avoid coercion. There are increasing applications for the noncontraceptive benefits of LARC for several unique patient populations and medical conditions.

  View details for DOI 10.1097/GCO.0000000000000668

  View details for PubMedID 33002953

• Transgender Care in Adolescents Sanfilippo's Textbook of Gynecology Cizek, S. M., Trotman, G. CRC Press Taylor and Francis Group. 2020; 2: 265–272
• Gynecologic care for female patients with Fanconi Anemia Fanconi Anemia: Guidelines for Diagnosis and Management Castiel, M., Breech, L. L., Cizek, S. M., Merideth, M., Stratton, P. edited by Isis, S. Fanconi Anemia Research Fund. 2020; 5: 119–137
• Pediatric and Young Adult Vulvovaginal Graft-versus-Host Disease BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION Cizek, S. M., El-Bietar, J., Rubinstein, J., Dandoy, C., Wallace, G. H., Nelson, A., Khandelwal, P., Myers, K. C., Hoefgen, H. R. 2019; 25 (12): 2408–15

  Abstract

  Vulvovaginal graft-versus-host disease (GVHD) is an underdiagnosed and poorly recognized complication of hematopoietic stem cell transplantation (HSCT). Previous studies have reported findings restricted to predominantly adult populations. We report a case series of pediatric and young adult vulvovaginal GVHD, which was identified in 19 patients (median age, 11.8 years; range, 2.4 to 21.9 years) out of a total 302 female patients who underwent transplantation over an 8-year period at a pediatric HSCT center. The majority of patients had concomitant nongenital GVHD; only 1 patient had isolated vulvovaginal GVHD. The median time from bone marrow transplantation to diagnosis of vulvovaginal GVHD was 30 months (range, 2.3 to 97.5 months). A high percentage of the patients in our series were without vulvar or vaginal symptoms (n = 8; 42%), even though 17 patients (89%) presented with grade 3 disease based on current adult grading scales. Vulvar examination findings most frequently included interlabial and clitoral hood adhesions (89%), loss of architecture of the labia minora or clitoral hood (42%), and skin erosions or fissures (37%). Only 5 patients underwent a speculum exam, none of whom had vaginal GVHD. Examination findings of primary ovarian insufficiency (POI) can overlap with those of GVHD, and 6 patients (32%) in our cohort were diagnosed with POI. Only 1 patient was on systemic hormone replacement therapy at the time of vulvovaginal GVHD diagnosis. The majority of patients (n = 16) were treated with topical steroid therapy, with a median time to response of 43 days. Five patients (26%) had a complete response to therapy, and 10 patients (53%) had a partial response. This case series provides valuable insight into pediatric and young adult vulvovaginal GVHD and highlights the need for increased screening for vulvar disease in this population.

  View details for DOI 10.1016/j.bbmt.2019.07.015

  View details for Web of Science ID 000505855900012

  View details for PubMedID 31325588

• Combined Chest and Pelvic Surgery for Transgender Patients in an Integrated Health Care Setting International Journal of Transgenderism Cizek, S. M., Nguyen, N. T., Zaritsky, E., Weiss, E. 2017; 18: 382-8
• Combined hysterectomy and mastectomy surgery for transgender patients in an integrated health care setting INTERNATIONAL JOURNAL OF TRANSGENDERISM Cizek, S., Nguyen, N., Lyon, L., Zaritsky, E., Weiss, E. 2017; 18 (4): 382-388

  View details for DOI 10.1080/15532739.2017.1359725

  View details for Web of Science ID 000423968400005

• Preparing Future Physicians to Care for LGBT Patients: A Medical School Curriculum MedEdPORTAL Publications Mehringer, J., Bacon, E., Cizek, S., Kanters, A., Fennimore, T. 2013
• Regulation of protein kinase CK1alphaLS by dephosphorylation in response to hydrogen peroxide. Archives of biochemistry and biophysics Bedri, S., Cizek, S. M., Rastarhuyeva, I., Stone, J. R. 2007; 466 (2): 242-9

  Abstract

  Low levels of hydrogen peroxide (H(2)O(2)) are mitogenic to mammalian cells and stimulate the hyperphosphorylation of heterogeneous nuclear ribonucleoprotein C (hnRNP-C) by protein kinase CK1alpha. However, the mechanisms by which CK1alpha is regulated have been unclear. Here it is demonstrated that low levels of H(2)O(2) stimulate the rapid dephosphorylation of CK1alphaLS, a nuclear splice form of CK1alpha. Furthermore, it is demonstrated that either treatment of endothelial cells with H(2)O(2), or dephosphorylation of CK1alphaLS in vitro enhances the association of CK1alphaLS with hnRNP-C. In addition, dephosphorylation of CK1alphaLS in vitro enhances the kinase's ability to phosphorylate hnRNP-C. While CK1alpha appears to be present in all metazoans, analysis of CK1alpha genomic sequences from several species reveals that the alternatively spliced nuclear localizing L-insert is unique to vertebrates, as is the case for hnRNP-C. These observations indicate that CK1alphaLS and hnRNP-C represent conserved components of a vertebrate-specific H(2)O(2)-responsive nuclear signaling pathway.

  View details for DOI 10.1016/j.abb.2007.06.010

  View details for PubMedID 17626781

  View details for PubMedCentralID PMC2131699

• Risk factors for atherosclerosis and the development of preatherosclerotic intimal hyperplasia. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology Cizek, S. M., Bedri, S., Talusan, P., Silva, N., Lee, H., Stone, J. R. 2007; 16 (6): 344-50

  Abstract

  Intimal hyperplasia or thickening is considered to be the precursor lesion for atherosclerosis in humans; however, the factors governing its formation are unclear. To gain insight into the etiology of preatherosclerotic intimal hyperplasia, we correlated traditional risk factors for atherosclerosis with the intimal hyperplasia in an atherosclerosis-resistant vessel, the internal thoracic artery.Paired internal thoracic arteries were obtained from 89 autopsies. Multivariate logistic regression and multiple regression models were used to examine the association of preatherosclerotic intimal hyperplasia with traditional risk factors for atherosclerosis: age, gender, hypertension, smoking, body mass index, diabetes, and hypercholesterolemia.Atherosclerotic lesions consisting of fatty streaks and/or type III intermediate lesions were identified in 19 autopsies. Only age >75 years was found to be significantly correlated with atherosclerotic lesion development (P=.01). Multiple regression model of the intima/media ratio in all 89 cases revealed age >75 years (P<.0001), age 51-75 years (P=.0012), smoking (P=.008), and hypertension (P=.02) to be significantly correlated with intimal thickness. In the 70 cases without atherosclerosis, only age 51-75 years (P=.006) and smoking (P=.028) were found to be significantly associated with preatherosclerotic intimal thickening.In the atherosclerosis-resistant internal thoracic artery, preatherosclerotic intimal hyperplasia routinely forms during adulthood after the fourth decade and is associated with at least two traditional risk factors for atherosclerosis: age and smoking. These observations indicate that in some settings, intimal hyperplasia may be part of the disease process of atherosclerosis and that its formation may be influenced by traditional risk factors for atherosclerosis.

  View details for DOI 10.1016/j.carpath.2007.05.007

  View details for PubMedID 18005873

  View details for PubMedCentralID PMC2185541