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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 -
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 -
Diagnostic Cytopathology Nov 2019Ovarian gonadoblastoma coexisting with a dysgerminoma is extremely rare in patients with Turner syndrome (TS) and a Y chromosome. The cytological findings, including... (Review)
Review
Ovarian gonadoblastoma coexisting with a dysgerminoma is extremely rare in patients with Turner syndrome (TS) and a Y chromosome. The cytological findings, including imprint cytology, of these unusual ovarian tumors have rarely been reported. We report a rare patient with a gonadoblastoma with dysgerminoma, 3.0 × 2.0 cm in size; she was a 19-year-old woman with TS and a Y chromosome. She underwent laparoscopic bilateral gonadectomy, and the tumor was classified as stage IA (pT1aNxM0) according to the International Federation of Gynecology and Obstetrics classification system. Intraoperative imprint cytology revealed two types of neoplastic cells: small tumor cells surrounding light green-stained or eosinophilic hyaline globules with marked calcification, suspicious for gonadoblastoma; and large, round, atypical cells with abundant cytoplasm, macronucleoli, and marked lymphocytic infiltration (two-cell pattern), suspicious for dysgerminoma. The cytology results in our patient may represent the second reported results of imprint cytology describing a gonadoblastoma with dysgerminoma. They are the first reported results in a patient with TS and a Y chromosome.
Topics: Adult; Chromosomes, Human, Y; Dysgerminoma; Female; Gonadoblastoma; Humans; Ovarian Neoplasms; Turner Syndrome
PubMed: 31336030
DOI: 10.1002/dc.24282 -
Case Reports in Obstetrics and... 2024Primary extragonadal germ cell tumors (EGCTs) are a very rare clinical encounter most commonly reported in males. Among females, the placenta, pelvis, uterus, brain, and...
INTRODUCTION
Primary extragonadal germ cell tumors (EGCTs) are a very rare clinical encounter most commonly reported in males. Among females, the placenta, pelvis, uterus, brain, and mediastinum are the most common extragonadal sites and predominantly display nondysgerminoma histology. In this report, we present a case of a primary cervical dysgerminoma in a young female patient. . An 18-year-old nulligravid woman presented with a 12-month history of vaginal bleeding and discharge. Routine blood tests and serum levels of tumor markers were within normal limits. The chest X-ray was normal. A high-resolution pelvic MRI showed a well-defined lobulated cervicovaginal mass measuring 8 × 6 × 5 cm expanding into the vaginal canal with mild homogenous contrast enhancement. An incisional biopsy was performed vaginally under anesthesia, and histologic findings were consistent with dysgerminoma. A repeat follow-up pelvic MRI was done and showed a reduction in the size of the mass by more than 70%. The patient was treated with 4 cycles of bleomycin, etoposide, and cisplatin chemotherapy. Additional external pelvic beam radiation treatment was administered for a partial response. After 3 months of radiotherapy, a contrast abdominopelvic CT scan showed a recurrent cervicovaginal mass with extension to the pelvic sidewalls. The patient was initiated with ifosfamide, paclitaxel, and cisplatin (ITP) as second-line chemotherapy for a recurrent germ cell tumor but later died from hydronephrosis, chronic anemia, and sepsis.
CONCLUSION
The uterine cervix is a very unusual site for primary dysgerminoma and can have a very aggressive clinical course. A high index of suspicion and an exhaustive workup are necessary to reach a diagnosis, particularly in a young patient presenting with a cervical lesion.
PubMed: 38938322
DOI: 10.1155/2024/6465387 -
Reproductive Sciences (Thousand Oaks,... Jul 2024Pathogenic variants of the SOHLH1 gene are responsible for an autosomal recessive form of ovarian dysgenesis; this gene encodes a transcription factor expressed early in...
Pathogenic variants of the SOHLH1 gene are responsible for an autosomal recessive form of ovarian dysgenesis; this gene encodes a transcription factor expressed early in spermatogonia and oocytes and contributes to folliculogenesis. Previously, four affected women from two unrelated families reported homozygous variants in the SOHLH1 gene, but none had a history of gonadal malignancy or a histologic description. We present two sisters and their paternal great-aunt with a history of primary amenorrhea, pubertal delay, and hypergonadotrophism who came from an inbred Mexican family. The proband was the younger sister who was referred for bilateral dysgerminoma. She had a normal blood karyotype, and whole-exome sequencing analysis revealed a novel homozygous missense variant, c.275C>T, in SOHLH1; several family members were also analyzed. In addition to pure dysgerminoma, histopathological analysis revealed an ovarian cortex with fibrosis and almost total absence of follicles. This work confirms the inheritance of ovarian dysgenesis 5, supports the occurrence of cell loss in mouse models, and suggests that affected women should undergo periodic imaging surveillance due to the likely risk of tumor development.
Topics: Humans; Female; Dysgerminoma; Pedigree; Ovarian Neoplasms; Adult; Gonadal Dysgenesis; Adolescent; Mutation, Missense; Young Adult
PubMed: 38448741
DOI: 10.1007/s43032-024-01492-0 -
Clinical Endocrinology Jul 2023Individuals with 45,X/46,XY or 46,XY gonadal dysgenesis are at increased risk of germ cell malignancies. Therefore, prophylactic bilateral gonadectomy is advised in...
OBJECTIVE
Individuals with 45,X/46,XY or 46,XY gonadal dysgenesis are at increased risk of germ cell malignancies. Therefore, prophylactic bilateral gonadectomy is advised in girls and considered in boys with atypical genitalia for undescended, macroscopically abnormal gonads. However, severely dysgenetic gonads may not contain germ cells rendering gonadectomy unnecessary. Therefore, we investigate if undetectable preoperative serum anti-Müllerian hormone (AMH) and inhibin B can predict the absence of germ cells, (pre)malignant or otherwise.
DESIGN, PATIENTS AND MEASUREMENTS
Individuals who had undergone bilateral gonadal biopsy and/or gonadectomy because of suspected gonadal dysgenesis in 1999-2019 were included in this retrospective study if preoperative AMH and/or inhibin B were available. Histological material was reviewed by an experienced pathologist. Haematoxylin and eosin and immunohistochemical stainings for SOX9, OCT4, TSPY and SCF (KITL) were used.
RESULTS
Thirteen males and 16 females were included, 20 with 46,XY and 9 with 45,X/46,XY DSD. Three females had dysgerminoma alongside gonadoblastoma; two gonadoblastoma, one germ cell neoplasia in situ (GCNIS) and three males had pre-GCNIS and/or pre-gonadoblastoma. Gonadoblastoma and/or dysgerminoma were present in 3/11 individuals with undetectable AMH and inhibin B, one of whom also had non-(pre)malignant germ cells. Of the other 18, in whom AMH and/or inhibin B were detectable, only one had no germ cells.
CONCLUSIONS
Undetectable serum AMH and inhibin B cannot reliably predict the absence of germ cells and germ cell tumours in individuals with 45,X/46,XY or 46,XY gonadal dysgenesis. This information should help in counselling about prophylactic gonadectomy, taking into account both the germ cell cancer risk and potential for gonadal function.
Topics: Male; Female; Humans; Gonadoblastoma; Anti-Mullerian Hormone; Dysgerminoma; Retrospective Studies; Gonadal Dysgenesis, 46,XY; Neoplasms, Germ Cell and Embryonal; Gonadal Dysgenesis; Ovarian Neoplasms
PubMed: 36905105
DOI: 10.1111/cen.14909 -
Archives of Gynecology and Obstetrics Apr 2020Due to the rarity of recurrent and persistent malignant ovarian germ cell tumors (MOGCTs), there is no standardized protocol for salvage therapy. This study aimed to...
OBJECTIVE
Due to the rarity of recurrent and persistent malignant ovarian germ cell tumors (MOGCTs), there is no standardized protocol for salvage therapy. This study aimed to investigate the outcomes and prognostic factors of patients with recurrent and persistent MOGCTs.
METHODS
Clinical data for 59 patients with recurrent and persistent MOGCTs admitted to Peking Union Medical College Hospital from January 1, 2000, to April 30, 2018, were retrospectively analyzed.
RESULTS
Twenty-one cases (35.6%) were recurrent, and 38 (64.4%) were persistent. Patient age ranged from 1 to 39 years, and disease stage was as follows: 33 stage I, 4 stage II, 21 stage III, and 1 stage IV. There were 19 immature teratomas, 26 yolk sac tumors, 1 dysgerminoma, and 13 mixed germ cell tumors. Regarding the primary surgery, fertility was preserved in 49 patients and not preserved in 10 patients. Among the patients who underwent fertility-preserving primary surgery, 40 had fertility preserved in the second operation, and 9 did not. In the mean follow-up of 52.6 months (range 2-279 months) after recurrence, 19 patients (32.2%) experienced a second relapse, and 16 (27.1%) died. The 5-year survival and progression-free survival rates after relapse were 70.0% and 67.0%, respectively. The optimal salvage surgery and chemotherapy regimen after relapse were independent prognostic factors (P < 0.05).
CONCLUSIONS
The prognosis of recurrent and persistent MOGCTs was good after salvage therapy. The optimal salvage surgery and adjuvant standardized chemotherapy significantly impact patient prognosis. For young nulliparous patients, secondary fertility-sparing salvage therapy can be considered.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Neoplasm Recurrence, Local; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Prognosis; Retrospective Studies; Salvage Therapy; Treatment Outcome; Young Adult
PubMed: 32198624
DOI: 10.1007/s00404-020-05452-2 -
Zhonghua Nan Ke Xue = National Journal... Jul 2023To investigate the clinical feature, pathological morphology, special histopathological subtype and immunohistochemical characteristic of gonadoblastoma. (Review)
Review
OBJECTIVE
To investigate the clinical feature, pathological morphology, special histopathological subtype and immunohistochemical characteristic of gonadoblastoma.
METHODS
Three patients of gonadoblastoma treated from 2014 to 2020 were enrolled, and the clinical characteristics, histological morphology and immunophenotype were analyzed, and the literatures were also reviewed.
RESULT
Three phenotypical females were 14,17 and 27 years old. Case 1 was 46,XX with normal gonadal development. Case 2 was 46,XY and case 3 was chromosomal chimeric type (46, XY 90%/45,X 10%), both with dysgenetic gonads. Microscopically, the morphology of classic type was observed in all cases more or less, manifesting small nests of primitive germ cells and surrounding clustered sex cord-like cells, usually with Call-Exner like bodies and calcification. In additon, the morphology of special subtype can be seen in case 1,exhibiting cord-like tumor cells, which was segmentated by cellular fibrous stroma. Cases 2 and 3 were accompanied by dysgerminoma components. Immunohistochemically,all the primal germ cells were positive for OCT3/4, PLAP and CDll7 , and sexcord-like cells were positive for inhibin, SF-1, SOX9 and FOXL2 . Patients were followed up for 10 years, 6 years and 4 years respectively without recurrence.
CONCLUSION
Gonadoblastoma is a rare germ cell-sex cord stromal tumor, which is usually accompanied by gonadal hypoplasia. As a special subtype, dissecting gonadoblastoma will be easily confused with dysgerminoma/seminoma, but the prognosis is better. So we should improve the understanding of this subtype and avoid overdiagnosis.
Topics: Adolescent; Adult; Female; Humans; Young Adult; Calcinosis; Dysgerminoma; Gonadoblastoma; Ovarian Neoplasms
PubMed: 38619412
DOI: No ID Found -
Veterinarni Medicina Mar 2023The 16-year-old female leopard gecko () was presented with distended coelom and cachexia. Examination of the faecal sample ruled out the presence of protozoan...
The 16-year-old female leopard gecko () was presented with distended coelom and cachexia. Examination of the faecal sample ruled out the presence of protozoan parasites. A radiographic examination confirmed the presence of radiopaque foreign material in the intestine. The conservative treatment with tramadol, butylscopolamine, famotidine, vitamin B complex, and supportive fluid therapy with Hartmann solution and Duphalyte, was performed for 14 days. Ultrasonographic examination revealed the presence of a large mass adherent to the liver (with hypoechoic regions), a thin-walled cystic structure close to the liver, and coelomic effusion. Surgical exploration revealed a large mass on the right ovary. The unilateral (right) ovariectomy was performed. Histologic examination of the mass revealed dysgerminoma with an invasion of the ovarian bursa and blood vessels. Nine months after the surgery the patient was active and doing well. In reptiles, dysgerminoma is an uncommon type of neoplasia. To the best of our knowledge, this is the first case of dysgerminoma tumour diagnosed intravitally and treated successfully in lizards.
PubMed: 37981904
DOI: 10.17221/107/2022-VETMED -
Current Treatment Options in Oncology Aug 2016The necessity and extent of comprehensive surgical staging (CSS) and lymphadenectomy in the treatment of malignant ovarian germ cell tumors (MOGCTs) is still... (Review)
Review
The necessity and extent of comprehensive surgical staging (CSS) and lymphadenectomy in the treatment of malignant ovarian germ cell tumors (MOGCTs) is still controversial. However, it is uniformly agreed that CSS with lymphadenectomy is crucial to follow up patients without adjuvant chemotherapy in stage I MOGCTs. Considering the chemotherapy-sensitive nature of MOGCTs, fertility-sparing cytoreductive surgery (FSCS) seems a reasonable approach in initial treatment for patients with advanced stage. When encountered with bilateral MOGCTs, debulking is surely granted if there is no desire for fertility. Both ovaries completely replaced by neoplastic tissue composed the most challenging situation especially when patients require childbearing potential. In dysgerminoma histology, which usually has good prognosis, residual disease could be left to spare fertility. USO of the largest and more heterogeneous ovarian mass and a biopsy of the contralateral lesion may be considered if the patients are compliant to regular follow-up. NACT followed by interval FSCS may be a reasonable option in patients with extensive disease, when initial debulking is not an option or where the poor general condition or clinical findings suggest an increased risk of surgical morbidity or preclude fertility-sparing surgery. This is currently not the standard of care but deserves future study. In some rare situation, when any remaining ovarian tissue means high risk, BSO may be performed with the uterus preserved for possible assisted reproduction with donor egg. Treatment failure occurs in a small group of MOGCTs after primary treatment. A good number of recurrences can be salvaged with selected salvage surgery, especially when optimal secondary cytoreduction can be achieved. Immature teratoma is a subtype of MOGCTs where secondary cytoreduction may have a strong role to play.
Topics: Chemotherapy, Adjuvant; Combined Modality Therapy; Cytoreduction Surgical Procedures; Disease Management; Female; Gynecologic Surgical Procedures; Humans; Neoplasm Staging; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Salvage Therapy; Treatment Outcome; Tumor Burden
PubMed: 27357180
DOI: 10.1007/s11864-016-0416-2