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JNMA; Journal of the Nepal Medical... Nov 2022Dysgerminoma is the most common malignant germ cell tumour of the ovary. Abdominal pain, abdominal distention, and the presence of a palpable mass are common symptoms at...
UNLABELLED
Dysgerminoma is the most common malignant germ cell tumour of the ovary. Abdominal pain, abdominal distention, and the presence of a palpable mass are common symptoms at presentation. This is usually detected in youth, before the age of 20 years. Ovarian or adnexal tumours are very rare in patients below the age of 18 years, most of them being functional cysts, only 10% being malignant. Here is a rare case of an 8 years old girl with dysgerminoma who underwent right-sided salpingo-oophorectomy for unilateral involvement with conservation of fertility and now the patient is on chemotherapy as the tumour metastasized to the pre-aortic lymph node.
KEYWORDS
case reports; dysgerminoma; metastasis; paediatrics.
Topics: Child; Female; Humans; Abdominal Pain; Dysgerminoma; Lymph Nodes; Ovarian Neoplasms
PubMed: 36705173
DOI: 10.31729/jnma.7894 -
BMC Pregnancy and Childbirth Jan 2023Approximately 10-15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY...
BACKGROUND
Approximately 10-15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY DSD caused by a novel missense mutation in the HMG region of SRY rapidly progressing to germ cell tumors (GCTs).
CASE PRESENTATION
An adolescent female (15 years old) exhibiting primary amenorrhea was later diagnosed as a 46,XY female with bilateral gonadal dysplasia on the basis of peripheral lymphocyte karyotype 46,XY and a novel missense mutation in SRY (c.281 T > G, p.L94R). The novel missense mutation (c.281 T > G, p.L94R) and its adjacent region were conserved. Protein structure analysis showed that the mutant site was located in the middle of the HMG domain, and the mutant protein had a diminished ability to bind to DNA. Imaging examination revealed an adolescent female with a naive uterus. Laparoscopy and initial pathological examination revealed left gonadal dysplasia and right gonadal dysplasia with gonadoblastoma (GB). Right gonadectomy by laparoscopy was performed upon consent from the patient's parents. Less than 1 year postoperatively, the left gonadal gland deteriorated as observed by the findings of a mass in the left adnexal region by pelvic MRI and serum AFP > 1000 ng/ml by serological tests, and then total hysterectomy and adnexal and left gonadectomy by laparoscopy were performed. The GCT stage was classified as stage Ic according to FIGO. At this time, pathologic examination showed that the left gonad had progressed to yolk sac tumor and dysgerminoma. The patient underwent chemotherapy post-operatively but developed type III myelosuppression and tumor recurrence several months later.
CONCLUSIONS
The patient initially presented with right gonadoblastoma but chose only right gonadectomy by laparoscopy to preserve the female sex characteristics, which resulted in rapid deterioration of the left gonad and poor treatment outcomes. This case demonstrates the importance of early genetic diagnosis and treatment of 46,XY female DSD.
Topics: Adolescent; Female; Humans; Dysgerminoma; Endodermal Sinus Tumor; Gonadoblastoma; Gonads; Mutation, Missense; Neoplasm Recurrence, Local; Ovarian Neoplasms; Sex-Determining Region Y Protein
PubMed: 36694125
DOI: 10.1186/s12884-022-05317-3 -
Gynecologic Oncology Mar 2023We previously developed preoperative and pre-chemotherapy modified versions of the male International Germ Cell Cancer Collaborative Group (IGCCCG) prognostic model and...
OBJECTIVE
We previously developed preoperative and pre-chemotherapy modified versions of the male International Germ Cell Cancer Collaborative Group (IGCCCG) prognostic model and assessed it in female patients with germ cell tumors (GCTs). We sought to validate these modified IGCCCG (mIGCCCG) models in a new cohort.
METHODS
We queried institutional databases for female patients with GCTs treated at Memorial Sloan Kettering Cancer Center from 1/1/1990-6/1/2020. The mIGCCCG model classifies patients with non-dysgerminomas as good, intermediate, or poor risk based on tumor markers using male IGCCCG cutoffs and absence/presence of non-pulmonary/peritoneal visceral metastasis. In dysgerminomas, good- and intermediate-risk groups are defined by absence/presence of non-pulmonary/peritoneal visceral metastasis. Progression-free survival (PFS) and overall survival (OS) were estimated for each group in the validation and combined original and validation cohorts. Associations between individual clinical factors and outcomes were evaluated.
RESULTS
Among 183 female patients with GCTs, clinical characteristics and outcomes were similar between the original (n = 93) and validation (n = 90) cohorts. In multivariable models, higher stage, older age, and non-dysgerminoma histology predicted worse PFS and OS (p < 0.05). Among 162 patients who received chemotherapy, preoperative and pre-chemotherapy mIGCCCG models were significantly associated with PFS and OS (p < 0.001 for all groups). With the preoperative model, 3-year PFS rates were 94%, 76%, and 50% in the good-, intermediate-, and poor-risk patients, respectively; OS rates were 96%, 86%, and 52%, respectively. Even within stage groups, mIGCCCG risk classifications were associated with clinical outcomes.
CONCLUSIONS
A female-specific mIGCCCG risk model effectively stratifies patients and should be incorporated into clinical trials.
Topics: Humans; Male; Female; Prognosis; Neoplasms, Germ Cell and Embryonal; Progression-Free Survival; Biomarkers, Tumor; Dysgerminoma; Ovarian Neoplasms; Retrospective Studies; Antineoplastic Combined Chemotherapy Protocols
PubMed: 36669327
DOI: 10.1016/j.ygyno.2022.12.022 -
Frontiers in Endocrinology 202217α-hydroxylase/17,20-lyase deficiency (17-OHD), caused by mutations in the gene of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1), is a rare type of... (Review)
Review
17α-hydroxylase/17,20-lyase deficiency (17-OHD), caused by mutations in the gene of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1), is a rare type of congenital adrenal hyperplasia (CAH), usually characterized by cortisol and sex steroid deficiency combined with excessive mineralocorticoid. Gonadoblastoma is a relatively rare ovarian tumor that is frequently seen among patients with 46,XY gonadal dysgenesis. Rarely have they been reported in female patients with normal 46,XX karyotype. Here, we report an interesting case of an 11-year-old Chinese girl who presented acute abdominal pain that was later attributed to tumor rupture of right ovarian gonadoblastoma with dysgerminoma. Further evaluations revealed hypertension and hypokalemia. Hormonal findings showed increased progesterone, hypergonadotropic hypogonadism, and low cortisol levels. Her chromosome karyotype was 46,XX without Y chromosome material detected. Genetic analysis revealed that the patient had a homozygous pathogenic variant c.985_987delTACinsAA (p.Y329Kfs*90) in exon 6 of the gene and that her parents were all heterozygous carriers of this pathogenic variant. Due to the variable clinical manifestations of 17-OHD, meticulous assessment including genetic analysis is necessary. Further study is warranted to unravel the mechanism of gonadoblastoma in a patient with normal karyotypes.
Topics: Humans; Female; Child; Dysgerminoma; Mixed Function Oxygenases; Gonadoblastoma; Hydrocortisone; Ovarian Neoplasms; Karyotype; Lyases
PubMed: 36589847
DOI: 10.3389/fendo.2022.989695 -
Diagnostics (Basel, Switzerland) Dec 2022Dysgerminoma represents a rare malignant tumor composed of germ cells, originally from the embryonic gonads. Regarding its incidence, we do not have precise data due to... (Review)
Review
Dysgerminoma represents a rare malignant tumor composed of germ cells, originally from the embryonic gonads. Regarding its incidence, we do not have precise data due to its rarity. Dysgerminoma occurs at a fertile age. The preferred treatment is the surgical removal of the tumor succeeded by the preservation of fertility. Even if a multidisciplinary team, founded in 2009 by a gynecologist, an oncologist, a pediatric oncologist and a pediatric surgeon, under the guidance of the Malignant Germ Cell International Consortium (MaGIC), studies this type of tumor, issues still remain related to the lack of a randomized study and to both the management and understanding of the concept of OMGCTs (ovarian malignant germ cell tumors). The aim of this review is to present from the literature the various approaches for this type of tumor, and, regarding innovative therapies or possible prevention, which can be applied in clinical practice. Multidisciplinarity and treatment in reference centers have proven their usefulness as well.
PubMed: 36553112
DOI: 10.3390/diagnostics12123105 -
Abdominal Radiology (New York) May 2023Adnexal masses during pregnancy are a relatively uncommon entity. Their clinical management is challenging given the overlapping features of certain entities on imaging... (Review)
Review
Adnexal masses during pregnancy are a relatively uncommon entity. Their clinical management is challenging given the overlapping features of certain entities on imaging and histopathology, which can mimic malignancy, and the potential side effects to the mother and fetus, whether expectant management versus surgery is pursued. Ultrasonography with Doppler evaluation is the modality of choice for evaluating adnexal masses during pregnancy. Magnetic resonance imaging is the second-line modality useful when US findings are inconclusive/indeterminate. Most adnexal masses in pregnant patients are benign in origin (e.g., functional cysts, mature cystic teratoma, decidualization of endometrioma), but a few are malignant in origin (e.g., dysgerminoma, granulosa cell tumor). Most cases of adnexal masses are asymptomatic, but complications such as ovarian torsion can occur. This review aims to familiarize the radiologist with the imaging of adnexal lesions during pregnancy so that the radiologist can identify ovarian cancer. Specifically, the review will detail the most common benign and malignant adnexal masses in pregnancy, mimickers, and their corresponding imaging findings on US and MRI.
Topics: Pregnancy; Humans; Female; Ovarian Neoplasms; Adnexal Diseases; Magnetic Resonance Imaging; Granulosa Cell Tumor; Dermoid Cyst
PubMed: 36538079
DOI: 10.1007/s00261-022-03768-y -
Magnetic Resonance Imaging Clinics of... Feb 2023MR imaging is useful in the detection and characterization of adnexal lesions. This review discusses the clinical findings and MR imaging appearances of two types of... (Review)
Review
MR imaging is useful in the detection and characterization of adnexal lesions. This review discusses the clinical findings and MR imaging appearances of two types of ovarian neoplasms: germ cell and sex cord stromal tumors. The most common of these lesions, mature cystic teratomas, is characterized by the presence of bulk fat on MR imaging. Some of the other germ cell neoplasms and sex cord stromal tumors may have suggestive clinical, laboratory, or MR imaging features (eg, lipid and fibrosis) to establish a diagnosis. The ability to differentiate benign tumors from possible malignancy can aid in patient management.
Topics: Female; Humans; Magnetic Resonance Imaging; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Sex Cord-Gonadal Stromal Tumors
PubMed: 36368863
DOI: 10.1016/j.mric.2022.07.003 -
Polish Journal of Pathology : Official... 2022Terminal deoxynucleotidyl transferase (TdT) is a unique type of DNA polymerase predominantly expressed in precursor lymphoid cells and acute lymphoblastic leukemia. It...
Terminal deoxynucleotidyl transferase (TdT) is a unique type of DNA polymerase predominantly expressed in precursor lymphoid cells and acute lymphoblastic leukemia. It participates in the junctional diversity of T-cell receptors and immunoglobulins. Recently, aberrant TdT expression was found in seminomas. Here, we evaluated the expression of TdT in our cohort of germ cell tumors (GCTs) with two anti-TdT antibody clones. We included 173 cases of testicular GCTs, 5 ovarian dysgerminomas, and one gonadoblastoma in the study. Tissue microarrays containing representative tumor samples were constructed and subsequently stained with anti-TdT monoclonal rabbit antibody EP266 (Dako) and TdT rabbit polyclonal antibody (Cell Marque). Expression was assessed with the H-score. No specific nuclear reaction was observed for the polyclonal anti-TdT antibody. The H-score values varied between the histological subtypes for the EP266 antibody. Positive nuclear staining was consistently seen in germ cell neoplasia in situ , seminoma, dysgerminoma, and embryonal carcinoma. Pure tumors had higher TdT H-scores than the mixed ones. Teratomas, yolk sac tumors, and choriocarcinomas were almost uniformly negative. Our study confirms that aberrant expression of TdT by testicular and ovarian GCTs exemplifies a potential diagnostic pitfall in histopathological diagnostics.
Topics: Humans; Male; Female; Animals; Rabbits; DNA Nucleotidylexotransferase; Immunohistochemistry; Biomarkers, Tumor; Neoplasms, Germ Cell and Embryonal; Testicular Neoplasms; Dysgerminoma; Ovarian Neoplasms; DNA-Directed DNA Polymerase
PubMed: 36345953
DOI: 10.5114/pjp.2022.120098 -
International Journal of Gynecological... Nov 2022
Topics: Female; Humans; Dysgerminoma; Ovarian Neoplasms; Neoplasm Recurrence, Local
PubMed: 36343973
DOI: 10.1136/ijgc-2022-003978 -
World Journal of Clinical Oncology Oct 2022Malignant ovarian germ cell tumors (MOGCT) are rare and frequently occur in women of young and reproductive age and the oncologic and reproductive outcomes after...
BACKGROUND
Malignant ovarian germ cell tumors (MOGCT) are rare and frequently occur in women of young and reproductive age and the oncologic and reproductive outcomes after fertility-sparing surgery (FSS) for this disease are still limited.
AIM
To evaluate the oncology and reproductive outcomes of MOGCT patients who underwent FSS.
METHODS
All MOGCT patients who underwent FSS defined as the operation with a preserved uterus and at least one side of the ovary at our institute between January 2005 and December 2020 were retrospectively reviewed.
RESULTS
Sixty-two patients were recruited for this study. The median age was 22 years old and over 77% were nulliparous. The three most common histology findings were immature teratoma (32.2%), dysgerminoma (24.2%), and yolk sac tumor (24.2%). The distribution of stage was as follows; Stage I, 74.8%; stage II, 9.7%; stage III, 11.3%; and stage IV, 4.8%. Forty-three (67.7%) patients received adjuvant chemotherapy. With a median follow-up time of 96.3 mo, the 10-year progression-free survival and overall survival were 82.4% and 91%, respectively. For reproductive outcomes, of 43 patients who received adjuvant chemotherapy, 18 (41.9%) had normal menstruation, and 17 (39.5%) resumed menstruation with a median time of 4 mo. Of about 14 patients who desired to conceive, four were pregnant and delivered good outcomes. Only one case was aborted. Therefore, the successful pregnancy rate was 28.6.
CONCLUSION
The oncology and reproductive outcomes of MOGCT treated by FSS are excellent. Many patients show a long survival time with normal menstruation. However, the obstetric outcome is not quite satisfactory.
PubMed: 36337312
DOI: 10.5306/wjco.v13.i10.802