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- Novel DICER1 mutation as cause of multinodular goiter in children. [JOURNAL ARTICLE]
- Head Neck 2013 Jun 1.
BACKGROUND:The aim of this report was to present a rare case of an adolescent with multinodular goiter (MNG) found to have a DICER1 mutation.
METHODS AND RESULTS:The methodology includes a presentation and discussion of a chart review including endocrine hormone tests, thyroid ultrasound, and genetic testing for DICER1. A 12-year-old girl presented with a diffusely enlarged thyroid gland. Family history revealed an older sister with a history of bilateral ovarian Sertoli-Leydig cell tumors and MNG. Thyroid function tests were normal. Serial thyroid ultrasounds showed enlarging multiple bilateral nodules. Fine-needle aspiration suggested MNG. Genetic testing revealed a novel heterozygous premature termination mutation (c.1525C>T p.R509X) in the DICER1 gene.
CONCLUSIONS:Thyroid nodules are rare in children but carry a higher risk for malignancy. It is essential to inquire about family history and refer for genetic evaluation with a family history of MNG. In patients with DICER1 mutations, tumor surveillance is critical due to the increased risk of multiple tumors, including ovarian tumors and pleuropulmonary blastoma. © 2013 Wiley Periodicals, Inc. Head Neck, 2013.
- DICER1 Syndrome: A New Cancer Syndrome. [JOURNAL ARTICLE]
- Klin Padiatr 2013 May; 225(3):177-178.
Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor and others. The DICER1 gene encodes an enzyme that is involved in the biogenesis of microRNAs. The entire tumor spectrum and the respective tumor risks are unknown. We are in the process of launching a natural history study aimed at identifying more information on this new cancer syndrome.
- Sertoli-Leydig cell tumors of the ovary: a Taiwanese Gynecologic Oncology Group study. [Journal Article]
- Taiwan J Obstet Gynecol 2013 Mar; 52(1):66-70.
To report the natural history and prognosis of the uncommon Sertoli-Leydig cell tumor (SLCT) of the ovary.A 20-year retrospective review was conducted by the Taiwanese Gynecologic Oncology Group (TGOG), including nine tertiary medical centers from different regions in Taiwan. The medical records for 40 cases of ovarian SLCT were collected. Pathology reviews were carried out by a panel of expert pathologists.After pathological review, 17 patients were subsequently excluded because the pathology slides were unavailable in five cases, and discrepant results from the initial diagnosis were found in 12 cases (34%). For the remaining 23 patients, the median age was 41 years. The most common symptom was irregular vaginal bleeding followed by an abdominal mass or amenorrhea. Most of the tumors were unilateral and confined to the right ovary, with an average size of 8.2 cm. Preoperative serum markers were available for 12 patients and were elevated for three patients. All patients underwent primary surgery. Six patients accepted adjuvant chemotherapy, and bleomycin, etoposide, and cisplatin were used in four of them. Clinical follow-up information was available in 21 patients with a median of 19 months. Eighty-two percent of patients were alive and free of disease up to the date of the last follow-up. Two patients died of the disease.This study demonstrates the extreme rarity of ovarian SLCT in Taiwan. Histological discordance between the diagnosis and central review proves the need for expertise review before treatment. For an improved understanding of the biological behavior and treatment strategy for this unique tumor, international collaboration is imperative.
- What is your diagnosis? Sertoli cell tumor with multiorgan metastasis. [Case Reports, Journal Article]
- J Avian Med Surg 2012 Dec; 26(4):267-9.
- Malignant sertoli cell tumor in a goose (Anser cygnoides domesticus). [Case Reports, Journal Article]
- Avian Dis 2012 Dec; 56(4):781-5.
This paper describes the pathologic features of a malignant Sertoli cell tumor found in an adult goose (Anser cygnoides domesticus). At necropsy, in addition to one large tumor mass (15 cm in diameter), multiple small tumor masses were observed over the peritoneum and mesenterium in the coelomic cavity. The large tumor mass was composed of sheets, lobules, and small islands of tumor cells, and elongated tumor cells lying perpendicular to fibrous connective tissue were characteristic. Such histopathologic characteristics were common to all the tumors. The tumor cells were immunohistochemically positive for neuron-specific enolase and S-100, and some tumor cells contained fine intracytoplasmic pigments that stained red by oil red O staining. These findings, taken together with the fact that one testis was markedly atrophied and bore no tumor cells and the other testis was not discernible, the present case was diagnosed as unilateral malignant Sertoli cell tumor arising from the unilateral testis. To our knowledge, this is the first report of Sertoli cell tumor in the goose.
- Predictors of spermatogenesis in orchiectomy specimens. [Journal Article]
- Urology 2013 Feb; 81(2):288-92.
To evaluate the presence of spermatogenesis in orchiectomy specimens of patients with testicular cancer to determine possible predictors of success with oncologic testicular sperm extraction of the cancerous testis at orchiectomy.We retrospectively reviewed the pathology reports and slides from 83 men who underwent radical orchiectomy for testicular cancer at 2 institutions from 1999 to 2010. The presence or absence of spermatogenesis in each specimen was determined. Data on tumor histopathologic type, serum tumor markers, and tumor size were also obtained and analyzed to detect any associations with the presence of spermatogenesis.The 83 specimens included 41 pure seminomas, 36 nonseminomatous and mixed germ cell tumors, and 6 benign lesions. Overall, spermatogenesis was detected in 48 of 77 (62%) cancerous specimens. Spermatogenesis was present in 22 of 41 (54%) pure seminomas and 26 of 36 (72%) nonseminomatous and mixed germ cell tumors, with no significant difference found between the 2 subtypes (P = .11). No association was found between tumor marker levels and the presence of spermatogenesis. A logistic regression model revealed a statistically significant inverse relationship between tumor size and spermatogenesis presence (P = .004).At orchiectomy, most cancerous testes contained active spermatogenesis and, thus, represent a viable source for sperm cryopreservation with oncologic testicular sperm extraction. A small tumor size proved to be a positive prognostic indicator for the presence of spermatogenesis, although a larger tumor size did not preclude the presence of spermatogenesis.
- FOXL2 molecular testing in ovarian neoplasms: diagnostic approach and procedural guidelines. [Journal Article]
- Mod Pathol 2013 Jun; 26(6):860-7.
A single, recurrent somatic point mutation (402CG) in FOXL2 has been described in almost all adult-type granulosa cell tumors but not other ovarian neoplasms. Histopathological features of adult-type granulosa cell tumors can be mimicked by a variety of other tumors, making diagnosis of adult-type granulosa cell tumor challenging. It has been suggested that molecular testing for FOXL2 mutation might be a useful tool in the diagnosis of adult-type granulosa cell tumors. The aim of this study was to demonstrate how testing for the FOXL2 mutation can be used in a gynecological pathology consultation service and to establish clear procedural guidelines for FOXL2 testing. Immunohistochemistry for FOXL2 was done using an anti-FOXL2 polyclonal antiserum. If immunohistochemistry was positive, FOXL2 mutation status was subsequently analyzed using a TaqMan assay. A dilution experiment was done to assess the sensitivity and minimum tumor cellularity requirements for our TaqMan assay. Twenty problematic cases were assessed, where the differential diagnosis after the initial investigations included adult-type granulosa cell tumors. Differential diagnoses included: thecoma, Sertoli-Leydig cell tumor, juvenile granulosa cell tumor, endometrial stromal sarcoma and others. In all cases, FOXL2 immunohistochemistry was positive and in six samples the FOXL2 mutation was detected, thus confirming a diagnosis of adult-type granulosa cell tumor. The TaqMan assay was able to reliably detect the FOXL2 mutation with input DNA in the range of 2.5-20 ng, and with a minimum of 25% tumor cell nuclei. The analysis of the FOXL2 mutational status in clinical samples is a useful diagnostic tool in situations where the differential diagnosis is between adult-type granulosa cell tumor and other ovarian tumors. The TaqMan assay requires a minimum of 2.5 ng DNA, with optimal assay performance for 5 to 10 ng DNA input. Laser capture or needle-macrodissection should be undertaken to enrich samples with tumor cell content below 25%.
- A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. [Case Reports, Journal Article]
- J Pediatr Endocrinol Metab 2012; 25(11-12):1145-51.
We report a case of a 14-year-old girl with primary amenorrhea and phenotypic as well as hormonal features of complete androgen insensitivity syndrome (CAIS), who tested positive for a novel missense androgen receptor gene mutation resulting in serine-to-isoleucine change at position 703 in exon 4 in the ligand-binding domain. The interesting features of this case include a persistence of Müllerian derivatives, Sertoli cell adenoma, Tanner III pubic hair, and a normal bone mineral density. These features are not typically described in CAIS. This novel mutation associated with a unique clinical presentation serves to significantly enrich the literature on this rare and fascinating disorder of androgen insensitivity syndrome.
- Mixed testicular neoplasia in a short beaked common dolphin Delphinus delphis. [Case Reports, Journal Article]
- Dis Aquat Organ 2012 Nov 19; 101(3):257-60.
A diagnosis of mixed testicular neoplasia in a short beaked common dolphin Delphinus delphis involving a Sertoli cell tumor, an interstitial (Leydig) cell tumor and a seminoma is presented. Lymphatic spread of the Sertoli cell tumor to an adjacent retroperitoneal lymph node was observed. Testicular neoplasms have been infrequently reported in marine mammals. Demonstration of clinical signs and further health implications is extremely challenging when dealing with non accessible wildlife species, such as dolphins. However, metastatic potential for these neoplastic conditions should be considered.
- Laparoscopic management of early-stage malignant nonepithelial ovarian tumors: surgical and survival outcomes. [Journal Article]
- Int J Gynecol Cancer 2013 Feb; 23(2):249-55.
Laparoscopic management in patients with malignant nonepithelial ovarian tumors (MNEOTs) was unpopular owing to the solid nature and relatively large size of the tumors. The purpose of this study was to evaluate the role of laparoscopy for MNEOTs.Between January 1989 and September 2010, 28 patients with MNEOTs underwent laparoscopic surgery at our institution. These patients' clinicopathologic data were retrospectively reviewed from medical records.Cases included 20 sex cord-stromal tumors (18 granulosa cell and 2 Sertoli-Leydig cell) and 8 malignant germ cell tumors (4 dysgerminomas, 2 immature teratomas, 1 choriocarcinoma, and 1 yolk sac tumor). The patients' median age was 27 years (range, 16-35 years) for those with malignant germ cell tumors and 42 years (range, 7-57 years) for those with stromal tumors. The median primary tumor diameter was 10.4 cm (range, 3.3-20.8 cm). Laparoscopic pelvic and para-aortic lymph node dissections were performed in 9 cases. Laparoscopic removal of primary tumor and omentectomy were performed in 26 and 6 cases, respectively. Hand-assisted laparoscopic surgery was performed for one huge tumor that could not be entered into the endobag. The median operating time was 102 minutes (range, 45-300 minutes), and the median postoperative hospital stay was 3 days (range, 2-10 days). All patients had stage I disease. Five patients received adjuvant chemotherapy, and the median interval to chemotherapy was 14 days (range, 2-21 days). No intraoperative complication or conversion to laparotomy was observed. Only one postoperative febrile morbidity occurred. The median follow-up was 34.5 months (1-185 months). One patient developed recurrence, which was treated with chemotherapy. No patient died of their disease.This is the first case series report of laparoscopic surgery for MNEOTs. Laparoscopic management seems feasible and safe without compromising survival. With additional evidence, laparoscopic surgery could be a safe therapeutic option for management of early-stage MNEOTs.