Gorlin syndrome and bilateral ovarian fibroma

Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

doi:10.1016/j.ijscr.2012.05.015

Cited by 17 publications

(14 citation statements)

References 9 publications

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“…In the general population, ovarian fibromas represent 5% to 6% of ovarian neoplasms; they are unilateral in 90% of the cases and are rarely calcified [7]. They commonly affect women of reproductive age, although sporadic cases in young premenarchal women have been reported, both in association with GS and otherwise [8,9].…”

Section: Discussionmentioning

confidence: 99%

Laparoscopic Treatment of Sclerosing Stromal Tumor of the Ovary in a Woman With Gorlin-Goltz Syndrome: A Case Report and Review of the Literature

Grechi

Clemente

Tozzi

et al. 2015

Journal of Minimally Invasive Gynecology

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Section: Discussionmentioning

confidence: 99%

Laparoscopic Treatment of Sclerosing Stromal Tumor of the Ovary in a Woman With Gorlin-Goltz Syndrome: A Case Report and Review of the Literature

Grechi

Clemente

Tozzi

et al. 2015

Journal of Minimally Invasive Gynecology

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“…10 Gorlin syndrome, also called nevoid basal cell carcinoma syndrome or basal cell nevus syndrome, is a rare hereditary disease and it is inherited in an autosomal dominant manner. 11 It affects multiple organ systems of the human body and is associated with an increased risk of developing several types of benign and malignant tumors. 11 This syndrome is caused by a germline mutation in the human homolog of the patched (PTCH1) gene, which is located on chromosome 9.…”

Section: Pure Stromal Tumors Fibromasmentioning

confidence: 99%

Ovarian sex cord-stromal tumors: an update on clinical features, molecular changes, and management

Harbi

McNeish

El‐Bahrawy

2021

Int J Gynecol Cancer

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Sex cord stromal-tumors are rare tumors of the ovary that include numerous tumor subtypes of variable histological features and biological behavior. Surgery is the main therapeutic modality for the management of these tumors, while chemotherapy and hormonal therapy may be used in some patients with progressive and recurrent tumors. Several studies investigated molecular changes in the different tumor types. Understanding molecular changes underlying the development and progression of sex cord-stromal tumors provides valuable information for diagnostic and prognostic biomarkers and potential therapeutic targets for these tumors. In this review, we provide an update on the clinical presentation, molecular changes, and management of sex cord-stromal tumors.

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“…Among these criteria, the proportion of women aged 16 -45 years with an ovarian fibroma ranged from 12.5% to 17.0% [7] [9]. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported [10] [11]. One study reported the use of conservative treatment for recurrent ovarian fibromas in a 22-year-old patient with Gorlin-Goltz syndrome [10], and the other described a case of Gorlin-Goltz syndrome complicated with hydronephrosis due to a huge ovarian tumor [11].…”

Section: Introductionmentioning

confidence: 99%

“…Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported [10] [11]. One study reported the use of conservative treatment for recurrent ovarian fibromas in a 22-year-old patient with Gorlin-Goltz syndrome [10], and the other described a case of Gorlin-Goltz syndrome complicated with hydronephrosis due to a huge ovarian tumor [11]. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process.…”

Section: Introductionmentioning

confidence: 99%

Oocyte Cryopreservation before Tumorectomy in Gorlin-Goltz Syndrome with Recurrent Ovarian Fibroma: A Case Report

Chihara¹,

Fujimoto²,

Ogi³

et al. 2018

OJOG

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Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5% to 17.0%. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process. Case: In this case report, the patient with Gorlin-Goltz syndrome underwent laparotomy for bilateral ovarian fibrothecoma at 15 years of age. At 20 years of age, a recurrent ovarian tumor was detected in the remaining ovary. During the follow-up, we detected an increase in its size. As tumor torsion requiring left salpingo-oophorectomy was possible, tumorectomy was considered. However, her anti-Müllerian hormone level was low. As she was at risk for premature ovarian failure after tumorectomy, we planned to cryopreserve her oocytes to preserve her fertility before tumorectomy. Outcome: When the patient underwent surgery, the diameter of her left ovarian tumor was found to have increased to 56 mm. Egg collection was performed twice, and two oocytes were cryopreserved. Subsequently, she underwent tumorectomy of the left ovarian tumor. No recurrence has been observed. Conclusion: If a recurrent ovarian tumor is detected in patients with Gorlin-Goltz syndrome and a low anti-Müllerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.

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Gorlin syndrome and bilateral ovarian fibroma

Abstract: Gorlin-Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary.

Cited by 17 publications

References 9 publications

Laparoscopic Treatment of Sclerosing Stromal Tumor of the Ovary in a Woman With Gorlin-Goltz Syndrome: A Case Report and Review of the Literature

Laparoscopic Treatment of Sclerosing Stromal Tumor of the Ovary in a Woman With Gorlin-Goltz Syndrome: A Case Report and Review of the Literature

Ovarian sex cord-stromal tumors: an update on clinical features, molecular changes, and management

Oocyte Cryopreservation before Tumorectomy in Gorlin-Goltz Syndrome with Recurrent Ovarian Fibroma: A Case Report

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