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Bortoletto, Pietro

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Bortoletto

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Pietro

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Bortoletto, Pietro
Author's Publications: search.filters.isAuthorOfPublication.86ac078f-2a51-4a7e-be21-3fb7570848d9

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    Pelvic and pulmonary benign metastasizing leiomyoma: A case report
    (Elsevier, 2018) Bakkensen, Jennifer; Samore, Wesley; Bortoletto, Pietro; Morton, Cynthia; Anchan, Raymond
    Seven years after she had a total abdominal hysterectomy for benign leiomyomas, a 46-year-old woman presented with a pelvic mass and multiple pulmonary nodules. She underwent resection of the mass and core needle biopsy of a pulmonary lesion. Histopathologic analysis revealed that both the pelvic and the pulmonary lesions were consistent with benign leiomyomas. Benign metastasizing leiomyoma should be considered if a woman of reproductive age and with a history of leiomyomas presents with extrauterine nodules without evidence of malignancy. The final diagnosis should be based on histopathological examination. Treatment depends on tumor size, location, receptor positivity, and disease progression.
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    Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids
    (Elsevier, 2017) Bortoletto, Pietro; Lindsey, Jennifer L.; Yuan, Liping; Quade, Bradley; Gargiulo, Antonio; Morton, Cynthia; Stewart, Elizabeth A.; Anchan, Raymond
    Objective: To report a diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome following initial presentation with multiple cutaneous lesions. Design: Case report. Design classification N/A. Setting: Academic tertiary care center. Patient(s) 27-year-old nulligravid woman who presented with multiple red-brown lesions on her skin found to have cutaneous and uterine leiomyoma. Intervention(s) Biopsy of cutaneous lesions and fertility sparing robot-assisted laparoscopic myomectomy (RALM). Main outcome measures(s) Histological assessment of uterine leiomyoma. Results(s) Pathologic examination of uterine leiomyoma revealed diffuse atypia and fumarate hydratase loss phenotype concerning for genetic syndrome. Follow-up DNA sequencing via Sanger sequencing confirmed a pathogenetic R2333H mutation consistent with HLRCC. Conclusion(s) Consideration of HLRCC on differential diagnosis when patients present with cutaneous nodules and atypical or early onset uterine leiomyoma provides opportunity for early surveillance, family member testing, and more thoughtful surgical planning. Precis 27-year-old woman with multiple cutaneous lesions is found to have uterine leiomyomas and undergoes robotic myomectomy. Genetic testing of uterine leiomyomas reveals mutation in fumarate hydratase, etiologic in hereditary leiomyomatosis and renal cell cancer (HLRCC).