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Diagnostics (Basel, Switzerland) Dec 2020This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was...
This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the presence of a driving mutation in exon 17 of the KIT gene in the neoplastic tissue, as well as Sonic-hedgehog (SHH) pathway activation at the protein level. The patient responded well to chemotherapy and remained in complete remission. This is the first case of dysgerminoma in a Turner syndrome patient with such oncogenic pathway.
PubMed: 33321690
DOI: 10.3390/diagnostics10121067 -
Journal of Human Reproductive Sciences 2020The objective of the study was to present a case report on a phenotypic male mixed gonadal dysgenesis (MGD) who presented with hemoptysis due to secondary lung...
The objective of the study was to present a case report on a phenotypic male mixed gonadal dysgenesis (MGD) who presented with hemoptysis due to secondary lung metastasis from dysgerminoma. Phenotypic male MGD (45, X/46, XY) with primary infertility and hemoptysis participated in the study. This study was conducted at a tertiary care center. Laparoscopic visualization of gonads and presence of Müllerian/ Wolffian structures were ascertained. Gonadectomy of intra abdominal dysgenetic gonad were done. Fluorescence hybridization analysis was done in gonadal tissue to find the presence of Y chromosome. Intra-abdominal gonad showed dysgerminoma changes. Müllerian structures in the form of rudimentary uterus and fallopian tubes were seen. Left inguinal gonad showed normal testicular structures. Chemotherapy for secondary lung metastasis contemplated.
PubMed: 33311912
DOI: 10.4103/jhrs.JHRS_51_20 -
BMC Cancer Nov 2020Aggressive systemic mastocytosis (ASM) is a rare malignant disease characterized by disordered mast cell accumulation in various organs. We here describe a female ASM...
BACKGROUND
Aggressive systemic mastocytosis (ASM) is a rare malignant disease characterized by disordered mast cell accumulation in various organs. We here describe a female ASM patient with a previous history of ovarian dysgerminoma.
METHODS
Molecular cytogenomic analyses were performed to elucidate an etiological link between the ASM and dysgerminoma of the patient.
RESULTS
This patient was affected by ovarian dysgerminoma which was treated by chemotherapy and surgical resection. Having subsequently been in complete remission for 2 years, she developed symptoms of ASM. A somatic D816A mutation in the KIT gene was detected in her bone marrow, which facilitated the diagnosis of ASM. Unexpectedly, this KIT D816A variant was also detected in the prior ovarian dysgerminoma sample. Whole-exome sequencing allowed us to identify a somatic nonsense mutation of the TP53 gene in the bone marrow, but not in the dysgerminoma. Microarray analysis of the patient's bone marrow revealed a copy-number-neutral loss of heterozygosity at the TP53 locus, suggestive of the homozygous nonsense mutation in the TP53 gene. In addition, the loss of heterozygosity at the TP53 locus was also detected in the dysgerminoma.
CONCLUSIONS
These results indicated that either the mast cells causing the ASM in this case had originated from the preceding ovarian dysgerminoma as a clonal evolution of a residual tumor cell, which acquired the TP53 mutation, or that both tumors developed from a common cancer stem cell carrying the KIT D816A variation.
Topics: Dysgerminoma; Female; Humans; Mastocytosis, Systemic; Middle Aged; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms
PubMed: 33246418
DOI: 10.1186/s12885-020-07653-z -
Translational Andrology and Urology Oct 2020Differences of sexual development (DSD) are known to be associated with an elevated risk of malignant and pre-malignant tumors. However, given the rarity of DSD and... (Review)
Review
Differences of sexual development (DSD) are known to be associated with an elevated risk of malignant and pre-malignant tumors. However, given the rarity of DSD and tumors in patients with DSD, more robust, large scale, prospective literature is required to truly determine the extent of this association, long-term outcomes and the nuances associated with the wide variety of DSD diagnoses. In addition, the spectrum of diagnoses and nomenclature has been ever-changing, limiting assessment of long-term patient outcomes. This review aims to provide an overview of the pathogenesis of DSD conditions, potential malignancies associated with the diagnoses, the available screening for malignancy, and the most recent data on stratification for each DSD diagnosis and association with malignancy.
PubMed: 33209714
DOI: 10.21037/tau-19-726 -
Medicine Nov 2020Ovarian dysgerminoma (OD) mostly affect young women, have a rapid growth rate, and could result in complications such as rupture, hemoperitoneum or torsion, and acute...
INTRODUCTION
Ovarian dysgerminoma (OD) mostly affect young women, have a rapid growth rate, and could result in complications such as rupture, hemoperitoneum or torsion, and acute abdomen. However, there have been no reports of OD on F-FDG PET/CT imaging.
PATIENT CONCERNS
A 21-year-old female patient was admitted to our hospital on February 6, 2016, due to "reduced menstrual flow with abdominal distension for 3 months".
DIAGNOSIS
Color Doppler ultrasound showed a large solid mass in the abdomen and pelvis. Serum carbohydrate antigen 125 (CA125) was elevated significantly. Subsequent computed tomography (CT) of chest showed a large effusion in the right thoracic cavity. Abdominal CT scan revealed the presence of a solid mass occupying a large space in the middle and lower abdomen, suggesting that it derived from the left ovary. Then, she underwent F-fluoro-2-deoxy-D-glucose (F-FDG) positron emission tomography (PET)/CT examination for further diagnosis and staging. PET/CT showed a large occupying lesion in the abdomen. The maximum standardized uptake (SUVmax) of F-FDG was 15.8. No obvious hypermetabolic metastases were observed in the other parts of the body. Postoperative pathology and immunohistochemistry confirmed the ovarian dysgerminoma.
INTERVENTIONS
The patient underwent surgery. Chemotherapy was successfully carried out post-operation.
OUTCOMES
Fortunately, the patient is responding well to treatment and the postoperative recurrence-free survival time has been more than 3 years.
CONCLUSION
OD usually occurs in young women and is characterized by large solid pelvic mass. The F-FDG PET/CT scan shows abnormally increased metabolism of the tumor. Because of the high metabolic characteristics, F-FDG PET/CT may be of great significance in the diagnosis and staging of OD.
Topics: Dysgerminoma; Female; Fluorodeoxyglucose F18; Humans; Ovarian Neoplasms; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; Young Adult
PubMed: 33157971
DOI: 10.1097/MD.0000000000023074 -
Gynecology and Minimally Invasive... 2020Ovarian diffuse large B-cell lymphoma (DLBCL) is rare. DLBCL is a complex type of lymphoma. The ovarian DLBCL usually harbor a favorable prognosis. We report a case of...
Ovarian diffuse large B-cell lymphoma (DLBCL) is rare. DLBCL is a complex type of lymphoma. The ovarian DLBCL usually harbor a favorable prognosis. We report a case of ovarian DLBCL that presented as an ovarian mass with lower abdominal pain and was managed using laparoscopic staging surgery. A 29-year-old female (gravida 2, para 0, abortion 2) with a history of polycystic ovarian syndrome with irregular medication control visited our clinic due to lower abdominal pain. Transvaginal ultrasound revealed a heterogeneous, septated mass over the left adnexa with a diameter of approximately 6 cm × 8 cm. The tumor marker CA 19-9 was elevated (65.77 IU/mL); CA125 and carcinoembryonic antigen were not elevated. Laparoscopic surgery with left salpingo-oophorectomy was first performed. Frozen section indicated dysgerminoma. Then, we continued staging surgery through bilateral pelvic lymph node dissection, para-aortic lymph node dissection, omentectomy, right ovary and peritoneum biopsy, and washing cytology. Ovarian tumor and para-aortic lymph nodes were positive for lymphoma. The tumor cells were positive staining for CD20, CD5, ki67, BCL-6, and MUM-1, which was associated with DLBCL. The patient was then consulted for oocyte preservation and referred to hematology for further chemotherapy. In conclusion, an ovarian lymphoma is a rare event. The presence of an enlarged ovarian tumor should raise the suspicion of ovarian lymphoma. To differentiate ovarian lymphoma from dysgerminoma, immunohistochemistry is useful. Fertility preservation should be considered before chemotherapy. Ovarian tissue or oocyte preservation or gonadotropin-releasing hormone agonist injection before chemotherapy can be performed for fertility preservation.
PubMed: 33101919
DOI: 10.4103/GMIT.GMIT_79_19 -
Pediatrics Nov 2020We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC)...
We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) commercial genetic testing. This case underscores the importance of timely interdisciplinary care, including psychosocial intervention and consideration of gonadectomy, to optimize outcomes for individuals with differences of sex development. Her unique presentation highlights the implications of DTC genetic testing in a new diagnostic era and informs general pediatricians as well as specialists of nongenetic services about the value, capabilities, and limitations of DTC testing.
Topics: Adolescent; Biomarkers, Tumor; Direct-to-Consumer Advertising; Dysgerminoma; Female; Gender Identity; Genes, sry; Genetic Testing; Gonadal Dysgenesis, 46,XY; Gonadoblastoma; Humans; Lung Neoplasms; Ovarian Neoplasms; Phenotype
PubMed: 33060256
DOI: 10.1542/peds.2019-3302 -
Medicine Oct 2020Dysgerminoma is an extraordinarily rare neoplasm arising from the malignant germ cells of the ovary. Early antenatal diagnosis and proper management of the neoplasm to... (Review)
Review
RATIONALE
Dysgerminoma is an extraordinarily rare neoplasm arising from the malignant germ cells of the ovary. Early antenatal diagnosis and proper management of the neoplasm to improve maternal-neonatal results are the considerable challenges facing the gyne-oncologist. We summarize the clinical features and discuss treatment strategies of the ovary dysgerminoma (OD). Besides, we also review the literature on OD in PubMed, Web of Science Core Collection, Library of Congress, and LISTA from 1939 to 2019 to evaluate its clinical characteristics, feto-maternal compromise, management, and fertility outcome.
PATIENT CONCERNS
A 25-year-old pregnant woman reported lower abdominal pain and vomiting.
DIAGNOSIS
The patient was diagnosed as right OD.
INTERVENTIONS
She received a cesarean section due to severe abdominal pain, delivered a healthy girl at 38 C 4 weeks of gestation, and accepted fertility-preserving surgery. However, the patient refused chemotherapy postoperatively.
OUTCOMES
The patient was followed up 42 days, 3 months, and 6 months after surgery, and no tumor recurrence was observed.
LESSONS
OD has non-specificity characteristics, including age, symptoms, image date, and tumor marks. However, these abnormal indicators may provide some evidence for accurate antenatal diagnosis. The management strategies should be considered comprehensively on an individual basis, and fertility-preserving surgery should be carried out in the second trimester if further pregnancy is desired. Adjuvant chemotherapy needs to be applied to the treatment of OD patients with The International Federation of Gynecology and Obstetrics (FIGO) stages II, III, and IV and timely chemotherapy is suggested if there are several weeks before the expected date of delivery. The overall prognosis of OD patients is excellent.
Topics: Adult; Cesarean Section; Dysgerminoma; Female; Humans; Ovarian Neoplasms; Pregnancy; Pregnancy Outcome
PubMed: 33031254
DOI: 10.1097/MD.0000000000021214 -
The Malaysian Journal of Pathology Aug 2020Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads.
INTRODUCTION
Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads.
CASE REPORT
We described a case of extragonadal vaginal YST in a one year and seven months old girl who presented with vaginal discharge and bleeding, and discuss its differential diagnosis and potential pitfalls in immunohistochemistry. She was found to have a suprapubic mass on examination. The serum alpha fetoprotein was 11919.4 ng/mL. Computed tomography of the pelvis revealed a large 6.4 cm heterogenous pelvic mass. Colposcopic examination of the pelvis showed a fungating vaginal mass that was subsequently confirmed as a yolk sac tumour. Immunohistochemically, the malignant cells were positive toward CKAE1/AE3, AFP and glypican-3, as well as CD117.
DISCUSSION
Solid pattern extragonadal vaginal YST may morphologically resemble dysgerminoma that is also CD117 positive, while the glandular pattern YST may have clear cytoplasm and is positive for cytokeratin; hence, may resemble clear cell carcinoma. Being mindful of these potential diagnostic caveats is necessary to prevent misdiagnosis.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Dysgerminoma; Endodermal Sinus Tumor; Female; Humans; Immunohistochemistry; Infant; Proto-Oncogene Proteins c-kit; Sarcoma, Clear Cell; Vagina; Vaginal Neoplasms
PubMed: 32860387
DOI: No ID Found -
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