Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids

Pietro Bortoletto, Jennifer L. Lindsey, Liping Yuan, Bradley J. Quade, Antonio R. Gargiulo, Cynthia C. Morton, Elizabeth A Stewart, Raymond M. Anchan

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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).

Original languageEnglish (US)
Pages (from-to)31-34
Number of pages4
JournalCase Reports in Women's Health
Volume15
DOIs
StatePublished - Jul 1 2017

Fingerprint

Leiomyoma
Skin Neoplasms
Skin
Uterine Myomectomy
Fumarate Hydratase
Mutation
Genetic Testing
Robotics
DNA Sequence Analysis
Tertiary Care Centers
Fertility
Hereditary leiomyomatosis and renal cell cancer
Differential Diagnosis
Outcome Assessment (Health Care)
Phenotype
Biopsy

Keywords

  • Cutaneous lesions
  • Fibroids
  • Hereditary leiomyomatosis and renal cell cancer
  • HLRCC
  • Leiomyoma

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Bortoletto, P., Lindsey, J. L., Yuan, L., Quade, B. J., Gargiulo, A. R., Morton, C. C., ... Anchan, R. M. (2017). Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids. Case Reports in Women's Health, 15, 31-34. https://doi.org/10.1016/j.crwh.2017.06.004

Hereditary leiomyomatosis and renal cell cancer : Cutaneous lesions & atypical fibroids. / Bortoletto, Pietro; Lindsey, Jennifer L.; Yuan, Liping; Quade, Bradley J.; Gargiulo, Antonio R.; Morton, Cynthia C.; Stewart, Elizabeth A; Anchan, Raymond M.

In: Case Reports in Women's Health, Vol. 15, 01.07.2017, p. 31-34.

Research output: Contribution to journalArticle

Bortoletto, P, Lindsey, JL, Yuan, L, Quade, BJ, Gargiulo, AR, Morton, CC, Stewart, EA & Anchan, RM 2017, 'Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids', Case Reports in Women's Health, vol. 15, pp. 31-34. https://doi.org/10.1016/j.crwh.2017.06.004
Bortoletto, Pietro ; Lindsey, Jennifer L. ; Yuan, Liping ; Quade, Bradley J. ; Gargiulo, Antonio R. ; Morton, Cynthia C. ; Stewart, Elizabeth A ; Anchan, Raymond M. / Hereditary leiomyomatosis and renal cell cancer : Cutaneous lesions & atypical fibroids. In: Case Reports in Women's Health. 2017 ; Vol. 15. pp. 31-34.
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