- Title
- Functional characterization of multiple DICER1 mutations in an adolescent (letter)
- Creator
- Wu, M. K.; de Kock, L.; Foulkes, W. D.; Conwell, L. S.; Stewart, C. J. R.; King, B. R.; Choong, C. S.; Hussain, K.; Sabbaghian, N.; MacRae, I. J.; Fabian, M. R.
- Relation
- Endocrine-Related Cancer Vol. 23, Issue 2, p. L1-L5
- Publisher Link
- http://dx.doi.org/10.1530/ERC-15-0460
- Publisher
- BioScientifica
- Resource Type
- journal article
- Date
- 2016
- Description
- We report the case of an adolescent Caucasian female diagnosed with both multinodular goiter (MNG) and a Sertoli-Leydig cell tumor (SLCT) of the ovary (Fig. 1A). She had, at the age of 11.5 years, lower abdominal pain, but tests were not ordered at this point. At 12 years of age bilateral thyroid nodules were detected and 1 year later a thyroidectomy was performed due to pain and progressive enlargement of nodules. Histopathology showed MNG (i.e., nodular hyperplasia) (Supplementary Figure 1, see section on supplementary data given at the end of this article). Pelvic ultrasound and abdominal computed tomography, undertaken at age 12.5 years because of increasing abdominal discomfort, revealed an ovarian tumor measuring 44X39X56 mm with solid and cystic components. Alpha-fetoprotein (AFP) was elevated at 43 mg/l (normal values: <12 μg/l). Right salpingo-oophorectomy was performed. At this time, the histopathological diagnosis was an adult granulosa cell tumor (GCT) of the ovary (like SLCT, a subtype of sex cord-stromal tumor) with no capsular involvement (Supplementary Figure 2). There was no evidence of lymphadenopathy and no lymph node or omental sampling was performed. Currently, the patient is well, is euthyroid on thyroxine supplementation, and menses are regular.
- Subject
- adolescents; ovary; goiter; ovarian neoplasms; ribonuclease III; Sertoli-Leydig cell tumor
- Identifier
- http://hdl.handle.net/1959.13/1345668
- Identifier
- uon:29693
- Identifier
- ISSN:1351-0088
- Language
- eng
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