Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2017-07-01
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| Series: | Case Reports in Women's Health |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214911217300449 |
| _version_ | 1811306950829277184 |
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| author | Pietro Bortoletto Jennifer L. Lindsey Liping Yuan Bradley J. Quade Antonio R. Gargiulo Cynthia C. Morton Elizabeth A. Stewart Raymond M. Anchan |
| author_facet | Pietro Bortoletto Jennifer L. Lindsey Liping Yuan Bradley J. Quade Antonio R. Gargiulo Cynthia C. Morton Elizabeth A. Stewart Raymond M. Anchan |
| author_sort | Pietro Bortoletto |
| collection | DOAJ |
| description | 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). |
| first_indexed | 2024-04-13T08:55:59Z |
| format | Article |
| id | doaj.art-d6723df4ac73476a9a76d04f5112b4cc |
| institution | Directory Open Access Journal |
| issn | 2214-9112 |
| language | English |
| last_indexed | 2024-04-13T08:55:59Z |
| publishDate | 2017-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Case Reports in Women's Health |
| spelling | doaj.art-d6723df4ac73476a9a76d04f5112b4cc2022-12-22T02:53:19ZengElsevierCase Reports in Women's Health2214-91122017-07-0115C313410.1016/j.crwh.2017.06.004Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroidsPietro Bortoletto0Jennifer L. Lindsey1Liping Yuan2Bradley J. Quade3Antonio R. Gargiulo4Cynthia C. Morton5Elizabeth A. Stewart6Raymond M. Anchan7Division of Reproductive Endocrinology and Infertility, Boston, MA, USADivision of Reproductive Endocrinology and Infertility, Boston, MA, USADepartment of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USAHarvard Medical School, Boston, MA, USADivision of Reproductive Endocrinology and Infertility, Boston, MA, USADepartment of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USADivision of Reproductive Endocrinology, Departments of Obstetrics and Gynecology and Surgery, Mayo Clinic, Mayo Clinic School of Medicine, Rochester, MN, USADivision of Reproductive Endocrinology and Infertility, Boston, MA, USAObjective: 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).http://www.sciencedirect.com/science/article/pii/S2214911217300449Cutaneous lesionsFibroidsLeiomyomaHereditary leiomyomatosis and renal cell cancerHLRCC |
| spellingShingle | Pietro Bortoletto Jennifer L. Lindsey Liping Yuan Bradley J. Quade Antonio R. Gargiulo Cynthia C. Morton Elizabeth A. Stewart Raymond M. Anchan Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids Case Reports in Women's Health Cutaneous lesions Fibroids Leiomyoma Hereditary leiomyomatosis and renal cell cancer HLRCC |
| title | Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids |
| title_full | Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids |
| title_fullStr | Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids |
| title_full_unstemmed | Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids |
| title_short | Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids |
| title_sort | hereditary leiomyomatosis and renal cell cancer cutaneous lesions atypical fibroids |
| topic | Cutaneous lesions Fibroids Leiomyoma Hereditary leiomyomatosis and renal cell cancer HLRCC |
| url | http://www.sciencedirect.com/science/article/pii/S2214911217300449 |
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