Leiomyoma with KAT6B-KANSL1 fusion: Case report of a rapidly enlarging uterine mass in a postmenopausal woman

Alessandra J. Ainsworth, Nooshin K. Dashti, Taofic Mounajjed, Karen J. Fritchie, Jaime Davila, Rohini Mopuri, Rory A. Jackson, Kevin C. Halling, Jamie N Bakkum-Gamez, J. Kenneth Schoolmeester

Research output: Contribution to journalArticle

Abstract

Background: Uterine leiomyomas, in contrast to sarcomas, tend to cease growth following menopause. In the setting of a rapidly enlarging uterine mass in a postmenopausal patient, clinical distinction of uterine leiomyoma from sarcoma is difficult and requires pathologic examination. Case presentation: A 74-year-old woman presented with postmenopausal bleeding and acute blood loss requiring transfusion. She was found to have a rapidly enlarging uterine mass clinically suspicious for sarcoma. An abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. A 15.5 cm partially necrotic intramural mass was identified in the uterine corpus. The tumor was classified as a cellular leiomyoma. RNA sequencing identified a KAT6B-KANSL1 fusion that was confirmed by RT-PCR and Sanger sequencing. After 6 months of follow-up, the patient remains asymptomatic without evidence of disease. Conclusion: Prior studies of uterine leiomyomas have identified KAT6B (previously MORF) rearrangements in uterine leiomyomas, but this case is the first to identify a KAT6B-KANSL1 gene fusion in a uterine leiomyoma. While alterations of MED12 and HMGA2 are most common in uterine leiomyomas, a range of other genetic pathways have been described. Our case contributes to the evolving molecular landscape of uterine leiomyomas.

Original languageEnglish (US)
Article number32
JournalDiagnostic pathology
Volume14
Issue number1
DOIs
StatePublished - Apr 25 2019

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Leiomyoma
Sarcoma
RNA Sequence Analysis
Gene Fusion
Ovariectomy
Menopause
Hysterectomy
Hemorrhage
Polymerase Chain Reaction
Growth

Keywords

  • KAT6B-KANSL1
  • Leiomyoma
  • Uterus

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

Cite this

Leiomyoma with KAT6B-KANSL1 fusion : Case report of a rapidly enlarging uterine mass in a postmenopausal woman. / Ainsworth, Alessandra J.; Dashti, Nooshin K.; Mounajjed, Taofic; Fritchie, Karen J.; Davila, Jaime; Mopuri, Rohini; Jackson, Rory A.; Halling, Kevin C.; Bakkum-Gamez, Jamie N; Schoolmeester, J. Kenneth.

In: Diagnostic pathology, Vol. 14, No. 1, 32, 25.04.2019.

Research output: Contribution to journalArticle

Ainsworth, Alessandra J. ; Dashti, Nooshin K. ; Mounajjed, Taofic ; Fritchie, Karen J. ; Davila, Jaime ; Mopuri, Rohini ; Jackson, Rory A. ; Halling, Kevin C. ; Bakkum-Gamez, Jamie N ; Schoolmeester, J. Kenneth. / Leiomyoma with KAT6B-KANSL1 fusion : Case report of a rapidly enlarging uterine mass in a postmenopausal woman. In: Diagnostic pathology. 2019 ; Vol. 14, No. 1.
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abstract = "Background: Uterine leiomyomas, in contrast to sarcomas, tend to cease growth following menopause. In the setting of a rapidly enlarging uterine mass in a postmenopausal patient, clinical distinction of uterine leiomyoma from sarcoma is difficult and requires pathologic examination. Case presentation: A 74-year-old woman presented with postmenopausal bleeding and acute blood loss requiring transfusion. She was found to have a rapidly enlarging uterine mass clinically suspicious for sarcoma. An abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. A 15.5 cm partially necrotic intramural mass was identified in the uterine corpus. The tumor was classified as a cellular leiomyoma. RNA sequencing identified a KAT6B-KANSL1 fusion that was confirmed by RT-PCR and Sanger sequencing. After 6 months of follow-up, the patient remains asymptomatic without evidence of disease. Conclusion: Prior studies of uterine leiomyomas have identified KAT6B (previously MORF) rearrangements in uterine leiomyomas, but this case is the first to identify a KAT6B-KANSL1 gene fusion in a uterine leiomyoma. While alterations of MED12 and HMGA2 are most common in uterine leiomyomas, a range of other genetic pathways have been described. Our case contributes to the evolving molecular landscape of uterine leiomyomas.",
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