Browsing by Author "Burns, Catherine"

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    Endometriosis Mimicking a Gynecologic Cancer Presentation
    (2022-03) Burns, Catherine; Dauterman, Leah; Gallagher, Clare; Jansen, Shae; Soderholm, Beatrice
    CASE DESCRIPTION: A 44-year-old premenopausal woman with acute abdominal pain, a pelvic mass detected on imaging and microcytic anemia was transferred to Gynecologic Oncology service due to clinical suspicion for pelvic neoplasm. Pelvic exam was notable for a palpable cervical mass, enlarged left adnexa, and nodularity of the parametrium. Computed Tomography demonstrated a 17.6X15.5X13.2cm, complex left adnexal mass with small volume ascites and omental thickening and nodularity, suggesting carcinomatosis. Patient underwent supracervical abdominal hysterectomy, bilateral salpingo-oophorectomy (BSO), omentectomy and radical excision of broad ligament pelvic mass. Intraoperative findings were consistent with large endometrioma. Pathology confirmed the large endometrioma in the broad ligament and endometriosis in the vagina. The ovaries, uterus, and fallopian tubes were negative for endometriosis. The uterine final pathology also demonstrated leiomyomas and an endometrial polyp. Three months after excision, the patient had no other symptoms of endometriosis. CONCLUSIONS: Endometriosis classically presents with symptoms of dysmenorrhea, dyspareunia, or infertility; however, up to 25% of patients remain asymptomatic. Only a few prior case reports have documented acute presentations of endometriosis. In this case, the presentation of fever, atypical laboratory values, pelvic exam findings and suspicious imaging (pelvic mass with omental thickening) led to a differential prioritizing malignancy. Patient underwent surgical resection, with intraoperative pathology consistent with an endometrioma. CLINICAL SIGNIFICANCE: This case of an atypical presentation of endometriosis in a previously asymptomatic patient mimicked a malignant process. Final pathological diagnoses of an endometrioma, endometriosis, leiomyomas, and an endometrial polyp highlight the importance of maintaining a broad differential that includes benign pathology and reliance on histopathological investigation.
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    Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program
    (Cold Spring Harbor Laboratory Press, 2022-03-24) Jacobs, Annalise; Burns, Catherine; Patel, Purva; Treat, Kayla; Helm, Benjamin M.; Conboy, Erin; Vetrini, Francesco; Pediatrics, School of Medicine
    IGF1R-related disorders are associated with intrauterine growth restriction (IUGR), postnatal growth failure, short stature, microcephaly, developmental delay, and dysmorphic facial features. We report a patient who presented to medical genetics at 7 mo of age with a history of IUGR, poor feeding, mild developmental delays, microcephaly, and dysmorphic facial features. Whole-exome sequencing revealed a novel c.1464T > G p.(Cys488Trp) variant in the IGF1R gene, initially classified as a variation of uncertain significance (VUS). We enrolled the patient in the URDC (Undiagnosed Rare Disease Clinic) and performed additional studies including deep phenotyping and familial segregation analysis, which demonstrated that the patient's IGF1R VUS was present in phenotypically similar family members. Furthermore, biochemical testing revealed an elevated serum IGF-1 level consistent with abnormal IGF-1 receptor function. Workup resulted in the patient's variant being upgraded from a VUS to likely pathogenic. Our report expands the variant and phenotypic spectrum of IGF1R-related disorders and illustrates benefits and feasibility of reassessing a VUS beyond the initial molecular diagnosis by deep phenotyping, 3D modeling, additional biochemical testing, and familial segregation studies through the URDC, a multidisciplinary clinical program whose major goal is to end the diagnostic odyssey in patients with rare diseases.