Journal article
Struma Ovarii With Malignant Transformation and Germline KIT Mutation: A Case Report With Review of the Literature
International journal of gynecological pathology, Vol.35(5), pp.442-447
09/2016
DOI: 10.1097/PGP.0000000000000275
PMID: 27258816
Abstract
Struma ovarii accounts for 5% of ovarian teratomas. Malignant transformation occurs in <0.3%, however, the underlying molecular mechanism is unknown. We report a patient with follicular variant and tall cell variant of papillary thyroid carcinoma (PTC) arising from struma ovarii and coexisting incidental PTC in the thyroid. Mutation analysis by next-generation sequencing identified a novel germline mutation, KIT p.V530I mutation in the tumors and normal ovarian and thyroid tissue. Immunohistochemical staining showed loss of KIT expression in the PTCs. Activating mutations in KIT play an important role in diagnosis and prognosis of multiple malignancies including mastocytosis, gastrointestinal stromal tumors, and a subset of melanoma and acute myeloid leukemia. The p.V530I mutation has only been reported in 3 previous cases: acute myeloid leukemia, aggressive fibromatosis, and adenocarcinoma of the colon. In the case of aggressive fibromatosis, the patient responded well to imatinib treatment. KIT mutations have never been reported in thyroid carcinomas. This is the first case of PTC-harboring KIT mutation. Although more work needs to be done to elucidate the significance of this germline mutation, the response of the fibromatosis patient to imatinib may shed light on targeted therapy in PTC harboring this mutation.
Details
- Title: Subtitle
- Struma Ovarii With Malignant Transformation and Germline KIT Mutation: A Case Report With Review of the Literature
- Creators
- Deqin Ma - Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IowaNatalya V GusevaLaila DahmoushRobert A Robinson
- Resource Type
- Journal article
- Publication Details
- International journal of gynecological pathology, Vol.35(5), pp.442-447
- Publisher
- United States
- DOI
- 10.1097/PGP.0000000000000275
- PMID
- 27258816
- ISSN
- 0277-1691
- eISSN
- 1538-7151
- Language
- English
- Date published
- 09/2016
- Academic Unit
- Oral Pathology, Radiology and Medicine; Pathology; Urology
- Record Identifier
- 9984047986402771
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