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Neoplasia in pregnancy
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Germ cell tumors, both benign and malignant, occur primarily in young women (121). The two most common malignant types are dysgerminomas and endodermal sinus (yolk sac) tumors. As dysgerminomas are the most common malignant germ cell tumors and most often occur in young women, it is not surprising that they are the most common malignant adnexal mass found in pregnancy. Approximately 10% to 15% of dysgerminomas occur bilaterally. A review of 27 reported cases of dysgerminomas reported all patients presented with large-size tumors ranging from 12 to 28cm and most were stage IA (122). Because of their large size, obstetric complications have been reported in association with dysgerminomas including obstructed labor and cesarean section (122). Surgical treatment is required as an initial management for all patients regardless of pregnancy status. Oftentimes, if appropriate, surgery will be postponed until 16 to 18 weeks when the risk for spontaneous abortion is minimized (83,123). Unilateral salpingo-oophorectomy with preservation of the contralateral ovary and of the uterus is adequate for early-stage disease of both germ cell and epithelial cancers.
Adnexal/Ovarian Torsion
Published in Botros Rizk, A. Mostafa Borahay, Abdel Maguid Ramzy, Clinical Diagnosis and Management of Gynecologic Emergencies, 2020
Hajra Takala, Mona Omar, Ayman Al-Hendy
Tumors are a considerable risk factor for OT due to their mass effect. OTs due to tumors are similar to OTs not caused by tumors and are most frequently seen on the right ovary [47, 48]. OT is more likely to occur with a benign tumor than a malignant tumor. The most common benign tumor associated with OT is mature cystic teratoma. Several studies have reported that ovarian malignancy causes OT in <2% of cases [49–52]. However, the nature of tumor growth affects the likelihood of OT. Rapidly growing tumors carry a higher risk of torsion. Dysgerminoma is a malignant ovarian tumor that is most frequently seen during adolescence. Unlike most other germ cell tumors, dysgerminoma tends to grow rapidly and has a high risk of torsion [53–55]. In their study, Lee et al. reported that torsions of ovarian tumors are predominantly seen in reproductive-age women and most of these cases occurred in pregnant patients (22.7% vs 6.1% in nonpregnant patients) [48].
Hereditary Breast and Ovarian Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
For ovarian cancer patients, surgery alone is adequate for stage I ovarian epithelial cancer (OEC), while surgery and chemotherapy (e.g., polyadenosine diphosphate-ribose polymerase inhibitor [PARPi:olaparib]) are required for later stage, BRCA-mutated OEC. Surgery and chemotherapy are appropriate for dysgerminoma, but not radiotherapy. Use of BEP (bleomycin, etoposide, and cisplatin) has been shown to result in a 5-year survival rate of up to 100% for dysgerminomas and 85% for non-dysgerminomatous tumors. A combination of surgery (transabdominal hysterectomy or bilateral salpingo-oophorectomy for women beyond childbearing age, and unilateral oophorectomy for younger women) and chemotherapy is useful for treating GCT.
Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium
Published in Acta Clinica Belgica, 2022
Cas Dejonckheere, Carolien Moyson, Francis de Zegher, Leen Antonio, Griet Van Buggenhout, Brigitte Decallonne
Turner syndrome (TS) arises from partial or total loss of an X chromosome [1]. It is part of the disorders of sex development (DSD) spectrum and the most common sex chromosome abnormality in women, occurring in 1 in 2,000 to 2,500 live-born girls [2–4]. Some studies, however, suggest an even higher prevalence which relates to mosaic karyotypes remaining undiagnosed due to a milder phenotype [5]. The cardinal features of TS include short stature and infertility. Women with TS may also suffer from various other comorbidities, including a broad range of cardiovascular (e.g. coarctation of the aorta, arterial hypertension), metabolic (e.g. diabetes mellitus, dyslipidaemia), and autoimmune (e.g. thyroiditis, celiac disease) disorders. TS women are also more likely to have a horseshoe kidney, hearing loss, and melanocytic naevi, warranting regular surveillance [6]. Furthermore, patients exhibiting a karyotype involving a Y chromosome are at risk of developing gonadoblastoma, a rare germ cell tumour occurring in dysgenetic gonads [7–9]. In literature, the rate of gonadoblastoma development in this subgroup varies greatly, ranging from 4 to 60%. Pooled data from 14 studies estimate the risk around 10% [10]. Although being in itself a benign neoplasm, malignant transformation into dysgerminoma occurs in about 50% [11]. At present, prophylactic surgical removal of the gonads is recommended in TS women with Y chromosome mosaicism (approximately 10 to 12% of TS women) [7–10].
A case series of patients with gonadal dysgenesis-associated mixed malignant ovarian germ cell tumor
Published in Gynecological Endocrinology, 2020
Wenqing Yang, Lisha Wu, Qiongqiong He, Yi Zhang, Yu Zhang, Yan Tian
Gonadal dysgenesis is a rare condition, which comprises a large group of congenital conditions of the urogenital tract and reproductive system, affecting human gender determination and/or differentiation. In present study, we identified five phenotypic females with gonadal dysgenesis associated ovarian tumors. A previous review showed that up to 5% of patients with dysgerminoma are phenotypic females with 46, XY karyotype [4]. Dysgenetic gonads in the presence of Y chromosomal material confer a rising risk of gonadoblastoma [5]. Due to the increased risk of malignant transformation, possibly related to the rise in androgen exposure from puberty onwards [6], prophylactic gonadectomy is recommended at diagnosis.
Familial Swyer syndrome: a rare genetic entity
Published in Gynecological Endocrinology, 2018
Manilal Banoth, Ramana Reddy Naru, Mohammed Basheeruddin Inamdar, Amit Kumar Chowhan
Swyer syndrome or 46, XY complete gonadal dysgenesis (46, XY CGD) is a disorder of sex development in which the individual is 46, XY in genotype but phenotypically a female. This entity was first recognized in 1955 when Gim Swyer described two cases ofsex reversal that differed from the known forms of what was then termed "male pseudohermaphroditism". The two women had a 46, XY karyotype and had primary amenorrhea, tall stature, female external genitalia and normal vagina and cervix [1]. This condition was later linked to dysgenetic gonads and is also known as CGD [2]. These individuals are typically raised as females and have a female gender identity. Swyer syndrome has been estimated to occur in approximately in 1 in 1,00 000 people [3]. 10%-20% of women with the syndrome have a deletion in the DNA-binding region of the SRY gene 2 while in the remaining 80%–90% of cases, the SRY gene is normal and mutations in other testis determining factors are probably implicated. Patients with Swyer syndrome show hypergonadotropic hypogonadism with low levels of estrogens and normal female levels of androgens and they usually present with primary amenorrhea and delayed puberty. The syndrome may also present in late adulthood with gonadal tumors, typically dysgerminoma. We report familial Swyer syndrome which is rare, we could find one case report with 2 sisters of the same family with primary amenorrhea having Swyer syndrome [4]. Ours is the first documented data where three sisters of the same family had Swyer syndrome with three different genotypes and eldest sister had succumbed to advanced ovarian cancer, second case had dysgerminoma ovary which is the index case and the third sibling also has primary amenorrhea.