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Cureus Jul 2020Pineal dysgerminomas are sporadic pediatric intracranial tumors that usually grow as midline lesions around the third ventricle, most frequently the pineal gland and the...
Pineal dysgerminomas are sporadic pediatric intracranial tumors that usually grow as midline lesions around the third ventricle, most frequently the pineal gland and the pituitary regions of the brain. The severity of symptoms is dependent on the location of the lesion and can present with increased intracranial symptoms. We report a 20-year-old man who presented with new-onset headaches over the past month that would wake him from his sleep at night. The headaches, however, resolved completely one week prior to his first neurological evaluation. A thorough neurological examination was normal. A careful review of the literature does not show a case of a pineal tumor presenting with spontaneous regression of intracranial pressure, and therefore we would like to raise awareness among clinicians about this potential course. A delay in obtaining imaging could have been life-threatening; thus, we recommend a high index of suspicion when patients present with recent symptoms suggesting increased intracranial pressure. Our patient had an excellent outcome two years after his presentation, with appropriate management including drainage of the cerebrospinal fluid, chemotherapy, and radiotherapy.
PubMed: 32850234
DOI: 10.7759/cureus.9365 -
Cureus Jul 2020Gonadoblastoma is a rare ovarian neoplasm which belongs to "germ cell-sex cord-stromal tumor" category. This tumor is frequently associated with invasive germ cell...
Gonadoblastoma is a rare ovarian neoplasm which belongs to "germ cell-sex cord-stromal tumor" category. This tumor is frequently associated with invasive germ cell malignancy. It commonly arises in dysgenetic gonads of young individuals who are phenotypically females but possess 46XY karyotype. It has been rarely reported in females with normal phenotype and genotype. We herein describe a case of 10-year-old female who presented with abdominal pain, abdominal distention and fever. CT scan of the abdomen and pelvis revealed bilateral ovarian masses, ascites and pelvic and para-aortic lymphadenopathy. Serum lactate dehydrogenase levels were also elevated. She underwent left salpingo-oophorectomy, right ovarian biopsy, omentectomy and para-aortic lymphadenopathy. Microscopically, tumor showed in situ and invasive components. In situ component was arranged in nests and lobules formed by immature sertoli cells forming acini and encircling large polygonal primitive germ cells. Immature sertoli cells were positive for immunohitochemical (IHC) stains cytokeratin AE1/AE3, inhibin and calretinin, while germ cells were positive for SALL4, Oct 3/4, placental alkaline phosphatase (PLAP) and CD117. Invasive component was arranged in sheets of large-sized, polygonal-shaped primitive germ cells which were also positive for SALL4, Oct 3/4, PLAP and CD117 IHC stains. Hence, the diagnosis of "gonadoblastoma with dysgerminoma" was made. The tumor was limited to both ovaries. Cytogenetic analysis of peripheral blood revealed normal female 46XX karyotype. The patient received two cycles of adjuvant chemotherapy and was then lost to follow-up. We conclude that gonadoblastoma, although rare, should be considered as a differential diagnosis in ovarian tumors of young females. Invasive germ cell component should always be carefully searched for as it guides about treatment and predicts prognosis.
PubMed: 32775072
DOI: 10.7759/cureus.8990 -
BMJ Case Reports Jul 2020Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis...
Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.
Topics: Adolescent; Dysgerminoma; Female; Gonadal Dysgenesis, 46,XY; Gonadoblastoma; Humans; Neoplasms, Multiple Primary; Ovarian Neoplasms; Rare Diseases
PubMed: 32641439
DOI: 10.1136/bcr-2020-235501 -
Case Reports in Obstetrics and... 2020Solid pseudopapillary tumors are rare, with the majority of described cases originating in the pancreas. To date, there are only 10 documented reports of primary ovarian...
Solid pseudopapillary tumors are rare, with the majority of described cases originating in the pancreas. To date, there are only 10 documented reports of primary ovarian solid pseudopapillary tumors. Here, we describe the case of a 24-year-old woman who presented with worsening pelvic pain and dysmenorrhea. Workup demonstrated a right ovarian solid mass on ultrasound and an elevated serum LDH, which raised concerns for dysgerminoma due to her relatively young age. Therefore, she was taken to the operating room and underwent laparoscopic right salpingo-oophorectomy. On initial rapid frozen section, her ovarian cyst had a grossly hemorrhagic appearance with multiple hemosiderin deposits noted microscopically, which suggested a benign hemorrhagic cyst. However, the final pathology was reported as solid pseudopapillary tumor based on several defining histologic characteristics. Most importantly, immunostaining was positive for -catenin and negative for E-cadherin. This report presents a brief review of the current literature on primary ovarian solid pseudopapillary tumors, including a discussion of expected prognosis after surgical resection, as well as a discussion of the role of immunohistochemistry (IHC) in differentiating ovarian neoplasms in young premenopausal women.
PubMed: 32566338
DOI: 10.1155/2020/6473630 -
Journal of Ovarian Research Jun 2020To investigate the spectrum of CT and MRI findings of dysgerminoma of the ovary.
BACKGROUND
To investigate the spectrum of CT and MRI findings of dysgerminoma of the ovary.
METHODS
CT and MRI imaging of 12 patients with 13 histologically proven dysgerminomas of the ovary were retrospectively reviewed. Patients ages ranged from 6 ~ 27 years (mean, 17.2 years). Two observers evaluated the following CT and MRI features of the tumor by consensus: (i) location, shape, and size; (ii) attenuation, T2 signal intensity, and ADC value; (iii) patterns of contrast enhancement; (iv) presence of fibrovascular septa; (v) presence of necrosis, hemorrhage, and calcification; (vi) presence of "ovarian vascular pedicle" sign. We also noted the extent or stage of the tumors.
RESULTS
75% lesions arised in the right ovary. Bilateral ovaries were involved in one case. Tumors displayed as a purely or predominantly solid mass (mean size, 17.0 ± 7.8 cm). Ten tumors were shaped multilobulated. The mean ADC value of lesions was 0.830 ± 0.154 × 10 mm/s. Characteristic fibrovascular septa were observed in all lesions. Among them, classic septa were present in 69% lesions. They were thin, hypointense on T2WI with a linear intense enhancement indicating the blood vessels in septa. Due to the stromal edema, fibrovascular septa may become thick even amorphous in shape, hyperintense on T2WI and even low attenuation on CT with a slight enhancement except for a bright blood vessel on the edge. Massive necrosis was observed only in one lesion. Calcification was present in 3 of the 5 tumors on CT. "Ovarian vascular pedicle" sign was present in 12 lesions. Lymphadenopathy, retroperitoneal spread, and distant metastases combined with an implantation in Douglas' cul-de-sac were present in one patient respectively.
CONCLUSION
On CT and MR images, ovarian dysgerminoma often appears as a large solid mass. The edematous condition of characteristic fibrovascular septa can be well displayed by imaging which then can guide the radiologists to make an accurate diagnosis. Calcifications often occur in the tumor. Nonspecific low ADC value and "ovarian vascular pedicle" sign may narrow the differential diagnosis.
Topics: Adolescent; Adult; Child; Dysgerminoma; Female; Humans; Magnetic Resonance Imaging; Ovarian Neoplasms; Retrospective Studies; Tomography, X-Ray Computed; Young Adult
PubMed: 32552845
DOI: 10.1186/s13048-020-00674-z -
Medicine May 2020True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis.
INTRODUCTION
True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis.
PATIENT CONCERNS
In this study, we reported a rare true hermaphroditism case with dysgerminoma. A 49-year-old woman developed masses in both inguinal regions for 30 years. Recently 3 months, the patient found that the size of mass in her left inguinal region was significantly increased.
DIAGNOSIS
After surgical resection, the results of immunohistochemical examination in left mass revealed a dysgerminoma with positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4, and right mass was a cryptorchidism. Chromosomal analysis revealed the karyotype 46, XY. Combined immunohistochemical and karyotype analysis, a diagnosis of true hermaphroditism with dysgerminoma was made.
INTERVENTIONS
Radiotherapy combined with chemotherapy after tumor resection was used to improve her prognosis. Hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate were used to maintain her female characteristics.
OUTCOMES
The patient underwent hormonal replacement and has been well for 6 months.
CONCLUSION
The positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4 could be 2 diagnosis markers of dysgerminoma. Surgery combined with radiotherapy and chemotherapy could improve the prognosis of dysgerminoma. Moreover, hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate was very helpful to maintain the female characteristic of patients with true hermaphroditism.
Topics: Diagnosis, Differential; Dysgerminoma; Female; Humans; Male; Middle Aged; Ovarian Neoplasms; Ovotesticular Disorders of Sex Development
PubMed: 32481455
DOI: 10.1097/MD.0000000000020472 -
Cancer Management and Research 2020This study aimed to analyze the clinicopathological features, treatment, and feto-maternal outcomes of pregnancy complicated by malignant ovarian germ cell tumors...
PURPOSE
This study aimed to analyze the clinicopathological features, treatment, and feto-maternal outcomes of pregnancy complicated by malignant ovarian germ cell tumors (MOGCTs), to increase the awareness on this condition.
PATIENTS AND METHODS
We retrospectively reviewed the medical records of patients diagnosed with MOGCTs during pregnancy, who were treated and followed-up at Peking Union Medical College Hospital from January 2000 to December 2017. The demographic characteristics, pathological features, treatment and prognosis were analyzed.
RESULTS
The histological subtypes varied in 14 patients (dysgerminoma, n=1; immature teratoma, n=4; yolk sac tumor, n=6; and mixed germ cell tumors, n=3). Ten (71.4%) patients, including three who opted for conservative therapy until childbirth, one who only received salvage chemotherapy during pregnancy, and six who underwent cystectomy or unilateral salpingo-oophorectomy during pregnancy, desired fetal preservation. After undergoing surgery, four patients chose surveillance instead of timely adjuvant chemotherapy. Eight patients delivered their babies, and the preterm delivery rate was 50.0%. One newborn died of premature birth. The median follow-up period was 44 (range: 13 to 86) months. During the current study period, 12 patients had survived and did not report any diseases. However, two died due to disease progression.
CONCLUSION
Pregnant women with MOGCTs had favorable outcomes. However, when a malignant tumor is suspected, surgery cannot be avoided. Thus, instead of timely postoperative adjuvant chemotherapy, close surveillance may be an acceptable alternative for pregnant women with low-risk MOGCTs.
PubMed: 32158267
DOI: 10.2147/CMAR.S240793 -
Case Reports in Pathology 2020Ovarian dysgerminoma is a rare type of germ cell tumor. The majority of patient relapses occur within 2 years of diagnosis. Here, we report the case of a 74-year-old...
Ovarian dysgerminoma is a rare type of germ cell tumor. The majority of patient relapses occur within 2 years of diagnosis. Here, we report the case of a 74-year-old woman with a history of ovarian dysgerminoma 39 years earlier. The patient visited the hospital presenting with heartburn. An abdominal computed tomography (CT) revealed a right retroperitoneal mass, and a primary retroperitoneal tumor was suspected. She underwent surgical resection of the retroperitoneal tumor. Histological examination confirmed a metastatic dysgerminoma to the retroperitoneum. Postoperative CT showed paraaortic and cervical lymph node metastases. The patient was treated with bleomycin, etoposide, and cisplatin chemotherapy. This case demonstrates the difficulties that may be encountered in the differential diagnosis of a retroperitoneal mass and underlines the necessity for understanding a patient's clinical history.
PubMed: 32110457
DOI: 10.1155/2020/4737606 -
Medicine Feb 2020Primary retroperitoneal germ cell tumors are uncommon and especially rare in female patients. However, this type should be included in the differential diagnosis of...
RATIONALE
Primary retroperitoneal germ cell tumors are uncommon and especially rare in female patients. However, this type should be included in the differential diagnosis of retroperitoneal tumors that may metastasize from the gonads and be a primary tumor.
PATIENT CONCERNS
An abdominal mass was detected in a 38-year-old woman during physical examination, which was accompanied by left renal obstructive hydrops. She was admitted to our institution for further investigation. The patient had no obvious clinical symptoms, and the levels of serum tumor markers did not signifificantly increase. Abdominal noncontrast enhanced and contrast-enhanced computed tomography revealed a retroperitoneal neoplasm that invaded the left ureter, thereby causing left hydronephrosis.
DIAGNOSES
Imaging examination characterized the tumor as malignant based on its invasion in the left ureter. Histopathology and immunohistochemistry confifirmed the resected tumor as a dysgerminoma. The primary gonad-derived germ cell tumor was not found in the pelvis; therefore, the patient was fifinally diagnosed with primary retroperitoneal germ cell tumor.
INTERVENTIONS
Preoperative examination was completed, and the retroperitoneal mass was resected.
OUTCOMES
During the short-term follow-up, no tumor recurrence was detected.
LESSONS
Primary retroperitoneal seminoma should be included in the differential diagnosis of primary retroperitoneal tumors in female patients. The primary retroperitoneal seminoma/anaplastic tumor has an obvious occupying effect and can easily invade the surrounding structures. However, surgical resection of such tumors is an optional treatment strategy.
Topics: Adult; Female; Humans; Neoplasms, Germ Cell and Embryonal; Retroperitoneal Neoplasms; Ultrasonography
PubMed: 32049847
DOI: 10.1097/MD.0000000000019170 -
Obstetrics & Gynecology Science Jan 2020Müllerian anomalies are rare deformities in women, and only a few cases concerning gynecologic malignancies arising in patients with congenital uterine malformations...
Müllerian anomalies are rare deformities in women, and only a few cases concerning gynecologic malignancies arising in patients with congenital uterine malformations have been reported. Herein, we present the case of a 34-year-old woman with dysgerminoma with a Müllerian anomaly (uterus didelphys). She had secondary amenorrhea, and an ovarian mass and uterus didelphys were discovered during examination. After right salpingo-oophorectomy, the tumor was confirmed as dysgerminoma, and a chromosome study revealed a normal female karyotype (46, XX). The patient completely responded to 6 cycles of chemotherapy. To our knowledge, this is the first reported case of dysgerminoma with uterus didelphys. Although gynecologic malignancies in patients with Müllerian anomalies are very rare, clinicians should be aware of the coexistence of gynecologic malignancies and uterine malformations.
PubMed: 31970134
DOI: 10.5468/ogs.2020.63.1.98