Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 3.854
Filter
1.
Evol Med Public Health ; 12(1): 122-128, 2024.
Article in English | MEDLINE | ID: mdl-39233763

ABSTRACT

Background and objectives: Cancer develops across nearly every species. However, cancer occurs at unexpected and widely different rates throughout the animal kingdom. The reason for this variation in cancer susceptibility remains an area of intense investigation. Cancer evolves in part through the accumulation of mutations, and therefore, we hypothesized that germline mutation rates would be associated with cancer prevalence and mortality across species. Methodology: We collected previously published data on germline mutation rate and cancer mortality data for 37 vertebrate species. Results: Germline mutation rate was positively correlated with cancer mortality (P-value = 0.0008; R2 = 0.13). Controlling for species' average parental age, maximum longevity, adult body mass or domestication did not improve the model fit (the change (Δ) in Akaike Information Criterion (AIC) was less than 2). However, this model fit was better than a model controlling for species trophic level (ΔAIC > 2). Conclusions and implications: The increased death rate from cancer in animals with increased germline mutation rates may suggest underlying hereditary cancer predisposition syndromes similar to those diagnosed in human patients. Species with higher germline mutation rates may benefit from close monitoring for tumors due to increased genetic risk for cancer development. Early diagnoses of cancer in these species may increase their chances of overall survival, especially for threatened and endangered species.

2.
Cell Rep ; 43(10): 114777, 2024 Sep 19.
Article in English | MEDLINE | ID: mdl-39302833

ABSTRACT

PIWI-interacting RNAs (piRNAs) play a crucial role in safeguarding genome integrity by silencing mobile genetic elements. From flies to humans, piRNAs originate from long single-stranded precursors encoded by genomic piRNA clusters. How piRNA clusters form to adapt to genomic invaders and evolve to maintain protection remain key outstanding questions. Here, we generate a roadmap of piRNA clusters across seven species that highlights both similarities and variations. In mammals, we identify transcriptional readthrough as a mechanism to generate piRNAs from transposon insertions (piCs) downstream of genes (DoG). Together with the well-known stress-dependent DoG transcripts, our findings suggest a molecular mechanism for the formation of piRNA clusters in response to retroviral invasion. Finally, we identify a class of dynamic piRNA clusters in humans, underscoring unique features of human germ cell biology. Our results advance the understanding of conserved principles and species-specific variations in piRNA biology and provide tools for future studies.

3.
Spine J ; 2024 Sep 07.
Article in English | MEDLINE | ID: mdl-39251040

ABSTRACT

BACKGROUND: Spinal teratomas and lipomas, both adult and pediatric cases, are rare diseases with many similarities, but have yet to be systematically compared. PURPOSE: To systematically compare spinal teratomas and lipomas to optimize management. STUDY DESIGN: Retrospective. PATIENT SAMPLE: Symptomatic spinal teratoma and lipoma patients surgically treated at our center. OUTCOME MEASURES: Anatomical distribution, clinical manifestations, resection status, and outcomes. METHODS: Spinal teratoma and lipoma patients with complete data treated during 2008 to 2023 in our center were enrolled. Electrophysiological monitoring was routinely performed after 2012. Patient characteristics, anatomical distribution, clinical manifestations, surgical resection, and outcomes were analyzed. RESULTS: We enrolled 86 teratoma patients (71 adults) and 51 lipoma patients (39 adults). Most tumors were lumbosacral lesions; cervical/thoracic involvement was more common with lipomas. Pain, the most frequent manifestation, was more common in teratomas. Gross total resection (GTR) was achieved in 51.1% and 49% of teratomas and lipomas, respectively. Electrophysiological monitoring increased the GTR rate from 38.8% to 48.6%. Age independently predicted (OR: 1.040, 95% CI: 1.008-1.078) GTR/near-total resection (NTR). Symptom relief occurred in 81.4% teratoma patients and 64.7% lipoma patients. Recurrence/symptomatic progression occurred in 19 teratomas and 7 lipomas after a median of 95 and 115 months, respectively. Adult lipoma patients without spinal dysraphism had lower recurrence rates. GTR (HR: 0.172, 95% CI: 0.02557-0.7028) and lesion length (HR: 1.351, 95% CI: 1.138-1.607) independently predicted recurrence/progression. CONCLUSIONS: GTR should be pursued for adult/pediatric spinal teratomas and pediatric spinal lipomas. For adult spinal lipoma patients without dysraphism, conservative surgery could be considered.

4.
BMC Med ; 22(1): 375, 2024 Sep 11.
Article in English | MEDLINE | ID: mdl-39256746

ABSTRACT

BACKGROUND: The pretherapeutic differentiation of subtypes of primary intracranial germ cell tumours (iGCTs), including germinomas (GEs) and nongerminomatous germ cell tumours (NGGCTs), is essential for clinical practice because of distinct treatment strategies and prognostic profiles of these diseases. This study aimed to develop a deep learning model, iGNet, to assist in the differentiation and prognostication of iGCT subtypes by employing pretherapeutic MR T2-weighted imaging. METHODS: The iGNet model, which is based on the nnUNet architecture, was developed using a retrospective dataset of 280 pathologically confirmed iGCT patients. The training dataset included 83 GEs and 117 NGGCTs, while the retrospective internal test dataset included 31 GEs and 49 NGGCTs. The model's diagnostic performance was then assessed with the area under the receiver operating characteristic curve (AUC) in a prospective internal dataset (n = 22) and two external datasets (n = 22 and 20). Next, we compared the diagnostic performance of six neuroradiologists with or without the assistance of iGNet. Finally, the predictive ability of the output of iGNet for progression-free and overall survival was assessed and compared to that of the pathological diagnosis. RESULTS: iGNet achieved high diagnostic performance, with AUCs between 0.869 and 0.950 across the four test datasets. With the assistance of iGNet, the six neuroradiologists' diagnostic AUCs (averages of the four test datasets) increased by 9.22% to 17.90%. There was no significant difference between the output of iGNet and the results of pathological diagnosis in predicting progression-free and overall survival (P = .889). CONCLUSIONS: By leveraging pretherapeutic MR imaging data, iGNet accurately differentiates iGCT subtypes, facilitating prognostic evaluation and increasing the potential for tailored treatment.


Subject(s)
Brain Neoplasms , Deep Learning , Magnetic Resonance Imaging , Neoplasms, Germ Cell and Embryonal , Humans , Neoplasms, Germ Cell and Embryonal/mortality , Neoplasms, Germ Cell and Embryonal/diagnostic imaging , Neoplasms, Germ Cell and Embryonal/pathology , Magnetic Resonance Imaging/methods , Male , Prospective Studies , Child , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/mortality , Brain Neoplasms/pathology , Female , Adolescent , Child, Preschool , Prognosis , Retrospective Studies , Survival Analysis
5.
Eur Urol Open Sci ; 68: 1-9, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39257620

ABSTRACT

Background: MicroRNAs (miRNAs) show promise as blood-based tumor markers for germ cell tumors (GCTs), with miRNA-371-3p being the most studied. The marginal benefit of including other candidate miRNAs to aid with the management of testicular GCTs remains unclear. Objective: To assess the performance of our combined miRNA assay (371a-3p and 372-3p) in patients with clinically localized testicular masses. Design setting and participants: This was a retrospective review of patients prospectively enrolled in an ongoing protocol collecting serum miR-371a-3p and miR-372-3p levels (together, Memorial Sloan Kettering Cancer Center [MSK] miRNA assay [MMA]) in patients with a suspected or diagnosed testicular GCT. Outcome measurements and statistical analysis: The coprimary outcomes of interest were sensitivity and specificity of miR-371a-3p and 372-3p, individually and together, to detect nonteratomatous GCTs in the orchiectomy specimen. Secondary outcomes included additional assay diagnostic parameters, the relationship of patient and disease factors with variations in miRNA levels, and temporal patterns of miRNA normalization after orchiectomy. Results and limitations: Sixty-two patients were included, 52 had a viable GCT at orchiectomy, and ten had no cancer or a non-GCT. Forty-six patients with a GCT had positive preorchiectomy MMA (sensitivity 88.5% [95% confidence interval {CI}: 79.8, 97.2]), and one patient had positive preorchiectomy MMA but no GCT (specificity 90.0% [95% CI: 71.4, 100]). The diagnostic performance of miR-371a-3-p and miR-372-3p was similar. The time for miRNA to decrease to undetectable levels varied, with some patients having positive levels up to 3 wk after orchiectomy. Conclusions: The biomarkers miR-371a-3p and miR-372-3p demonstrated high sensitivity and specificity for localized testicular GCTs, but causes of variation in relative miRNA levels and time to normalization for individual patients remain unclear. Patient summary: We studied the ability of the blood-based biomarkers miR-371a-3p and miR-372-3p to detect testicular cancer (germ cell tumors) in patients with small testicular masses. We found that together and individually these were sensitive and specific for testicular cancer.

6.
ESMO Open ; 9(9): 103692, 2024 Sep 05.
Article in English | MEDLINE | ID: mdl-39241498

ABSTRACT

BACKGROUND: Primary mediastinal germ-cell tumors (PMGCTs) account for 1%-3% of all germ-cell tumors (GCTs). Non-seminoma have a poorer prognosis compared to their gonadal counterpart and, according to the International Germ Cell Cancer Collaborative Group, they are considered 'poor risk' disease. Medical treatment is the same, with overall survival (OS) being ∼40%, declining to 10%-15% at 3 years in case of lung and non-visceral metastases. Patients failing first-line chemotherapy have a dismal prognosis, with only 5%-10% of cases being cured in the salvage setting. High-dose chemotherapy (HDC) with autologous stem cell transplantation (ASCT) has been successfully used to treat patients with relapsed or refractory gonadal GCTs. PATIENTS AND METHODS: This retrospective study aimed to investigate the value of HDC with ASCT in the whole population and define primary mediastinal non seminoma germ cell tumor (PMNSGCT) patient subgroups, who were registered in the European Society for Blood and Marrow Transplantation database from January 2000 to January 2018. Sixty-nine adult male patients with PMNSGCT were included. HDC consisted mainly of carboplatin/etoposide doublet, and most patients received HDC as part of a multiple sequential HDC program. RESULTS: OS was 43.3% at 2 years, and 34.7% at 5 and 10 years for the entire cohort. Analysis of outcomes showed that patients undergoing HDC as upfront therapy had a better progression-free survival (PFS) and OS compared to those treated in subsequent relapses (5-year PFS 51.8% versus 26.8% and 5-year OS 51.3% versus 25.9%). Better remission status before transplantation was predictive of the benefit of HDC. Three treatment-related deaths were recorded. CONCLUSIONS: To our knowledge, this is the most extensive retrospective study of HDC in PMNSGCTs patients and the first to thoroughly investigate potential predictors of benefit from this treatment. HDC with ASCT may well represent a therapeutic option in patients with PMNSGCTs after the first relapse or even as a front-line program.

7.
Poult Sci ; 103(11): 104260, 2024 Aug 26.
Article in English | MEDLINE | ID: mdl-39244782

ABSTRACT

Direct introduction of cryopreserved embryonic gonadal germ cells (GGC) into a sterile chicken surrogate host to reconstitute a chicken breed has been demonstrated as a feasible approach for preserving and utilizing chicken genetic resources. This method is highly efficient using male gonads; however, a large number of frozen female embryonic gonads is needed to provide sufficient purified GGC for the generation of fertile surrogate female hosts. Applying this method to indigenous chicken breeds and other bird species is difficult due to small flock numbers and poor egg production in each egg laying cycle. Propagating germ cells from the frozen gonadal tissues may be a solution for the biobanking of these birds. Here, we describe a simplified method for culture of GGC from frozen embryonic 9.5 d gonads. At this developmental stage, the germ cells are autonomously shed into medium, yielding hundreds to thousands of mitosis-competent germ cells. The resulting cultures of GGC have over 90% purity, uniformly express SSEA-1 and DAZL antigens and can re-colonize recipient's gonads. The GGC recovery rate from frozen gonads are 42% to 100%, depending on length of cryopreservation and the breed or line of chickens. Entire chicken embryos can also be directly cryopreserved for later gonadal isolation and culture. This storage method is a supplementary approach to safeguard local indigenous chicken breeds bearing valuable genetic traits and should be applicable to the biobanking of many bird species.

8.
J Urol ; : 101097JU0000000000004246, 2024 Sep 13.
Article in English | MEDLINE | ID: mdl-39269913

ABSTRACT

PURPOSE: A midline extraperitoneal approach for retroperitoneal lymph node dissection (EP-RPLND) has been associated with decreased morbidity compared to the transperitoneal approach. We aimed to review our 11-year experience in patients with germ cell tumors (GCTs) who underwent EP-RPLND at a single institution. MATERIALS AND METHODS: All patients with GCT who underwent EP-RPLND between 2010 and 2021 were reviewed. Surgical, perioperative, and oncologic outcomes were reported. A logistic regression model was developed to evaluate variables predictive of early discharge. Oncologic outcomes included 2-year recurrence-free survival (RFS) and recurrence patterns, which were analyzed according to pathology. RESULTS: Overall, 237 patients underwent EP-RPLND, of which 72% were administered in the postchemotherapy (PC) setting. Median follow-up was 16.7 months (interquartile range [IQR] 3.9-39.6). Median size of retroperitoneal disease was 2.8 cm (IQR 1.8-5.4), of which 16 cases were ≥ 10 cm. There were no cases of postoperative ileus or readmission due to small-bowel obstruction. Median hospital stay was 2 days (IQR 1-3). From 2020 to 2021, 73% of patients were discharged on postoperative day 1 and 89% by postoperative day 2. Thirty-one complications occurred, including 4% grade III to IV complications. In the primary setting, 2-year RFS for seminoma and nonseminomatous GCT was 0.93 (95% CI 0.84-1.00) and 0.85 (95% CI 0.72-1.00), respectively. In the PC setting, 2-year RFS for seminoma and nonseminomatous GCT was 0.88 (95% CI 0.74-1.00) and 0.88 (95% CI 0.81-0.95), respectively. Overall, only 7 patients had in-field recurrence. CONCLUSIONS: Midline EP-RPLND is safe and associated with rapid gastrointestinal recovery, short hospital stay, and low complication rates. It also demonstrates acceptable oncologic outcomes in the primary and PC settings, with low rates of in-field relapse.

9.
Cancer Med ; 13(18): e70200, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39300957

ABSTRACT

PURPOSE: Testicular cancer survivors (TCS) exposed to chemotherapy have an increased expression of CDKN2A/p16INK4a and a lymphocyte phenotype associated with immunosenescence. We seek to define whether the immunosenescent phenotype is associated with chemotherapy. METHODS: Case-control study of TCS, disease-free ≥3 months and stratified by primary treatment modality into orchiectomy only, chemotherapy, or bone marrow transplant (BMT). Each group was compared with age-matched healthy controls (HC). We measured the relative proportions of lymphocyte subpopulations using flow cytometry, levels of C-reactive protein, and relative expression of CDKN2A/p16INK4a quantified by qPCR. RESULTS: We included 65 patients; 19 were treated with orchiectomy only, 35 received different doses of chemotherapy, and 11 underwent BMT. The chemotherapy and BMT groups had decreased naïve CD4 cells compared to HC. The chemotherapy group showed increased central and effector memory CD4 cells, as well as effector and terminally differentiated CD8 cells, compared to HC. Chemotherapy (chemotherapy 1.84 vs. HC 0.92; p < 0.01) and BMT (BMT 6.96 vs. HC 1.25; p < 0.005) groups had higher expression of CDKN2A/p16INK4a compared to HC. The orchiectomy group showed no significant difference with HC (orchiectomy 1.73 vs. HC 1.01; p = 0.17). CRP levels were higher in all groups when compared with HC; in the orchiectomy group, they were only marginally increased (chemotherapy 0.22 vs. HC 0.06; p < 0.01; BMT 0.26 vs. HC 0.06; p < 0.01; orchiectomy 0.09 vs. HC 0.07; p < 0.01). CONCLUSIONS: Among TCS, only patients exposed to cytotoxic agents developed an immunosenescent phenotype. This finding supports the attribution of this alteration to the cytotoxic treatment.


Subject(s)
Cancer Survivors , Cyclin-Dependent Kinase Inhibitor p16 , Orchiectomy , Testicular Neoplasms , Humans , Male , Testicular Neoplasms/drug therapy , Testicular Neoplasms/therapy , Case-Control Studies , Adult , Cyclin-Dependent Kinase Inhibitor p16/metabolism , Middle Aged , Bone Marrow Transplantation , Immunosenescence , Aging , Young Adult
10.
BMC Womens Health ; 24(1): 484, 2024 Sep 03.
Article in English | MEDLINE | ID: mdl-39227947

ABSTRACT

BACKGROUND: Yolk sac tumor (YST) is a highly malignant germ cell tumor, a majority of which originate from the gonads and are extremely rare from endometrium. CASE PRESENTATION: Here we present a case of a 42-year-old woman suffered from primary pure yolk sac tumor of the endometrium complicated with situs inversus totalis. The patient presented at our hospital with irregular vaginal bleeding. Imageological examination showed a space-occupying lesion in the cervix and the serum Alpha-fetoprotein (AFP) level was significantly high (more than 1210ng/ml). Then she underwent total hysterectomy, bilateral salpingo-oophorectomy and pelvic lymph node dissection. The subsequent postoperative pathological diagnosis was yolk sac tumor arising from the endometrium. Next, the patient was treated with 6 cycles of chemotherapy with Pingyangmycin, etoposide and cisplatin regimen and was alive without evidence of recurrence or distant metastases for 13 months. CONCLUSIONS: This rare disease needs to be differentiated from endometrial epithelial neoplasia and the significant increase in AFP is helpful for diagnosis. Combined with previous literature reports, comprehensive staging laparotomy or maximum cytoreductive surgery complemented by standard chemotherapy can usually achieve a good efficacy.


Subject(s)
Endodermal Sinus Tumor , Endometrial Neoplasms , Situs Inversus , Humans , Female , Endodermal Sinus Tumor/complications , Endodermal Sinus Tumor/diagnosis , Endodermal Sinus Tumor/pathology , Adult , Situs Inversus/complications , Situs Inversus/diagnosis , Endometrial Neoplasms/complications , Endometrial Neoplasms/diagnosis , Endometrial Neoplasms/pathology , alpha-Fetoproteins/analysis , Hysterectomy/methods
11.
Clin Genitourin Cancer ; : 102217, 2024 Sep 03.
Article in English | MEDLINE | ID: mdl-39307609

ABSTRACT

BACKGROUND: Patients who undergo primary retroperitoneal lymph node dissection (pRPLND) for early-stage testicular cancer and have no cancer (pN0) found in the retroperitoneum are believed to have an excellent prognosis. However, some experience relapse, potentially due to limitations of current staging methods. We aim to describe long-term outcomes and relapse patterns among a contemporary cohort of patients found to be pN0 at pRPLND to identify opportunities for improved diagnostic approaches and optimal patient selection. METHODS: We reviewed our prospectively maintained database for patients who underwent pRPLND for nonseminomatous germ cell tumors at our tertiary cancer center during the period from January 1, 2000, through September 30, 2023 (n = 628). We excluded 282 patients with node-positive pathology for a final analytic cohort of 346 patients. Our primary outcome was recurrence-free survival (RFS). Secondary outcomes included timing and location of recurrence. RESULTS: Of 346 included patients with pN0 pathology, 23 experienced relapse with a 2-year RFS rate of 93% (95% confidence interval: 90, 96). Most recurrences (70%) occurred in the lungs and within 6 months of pRPLND. Serum tumor markers were positive in 43% of patients at the time of relapse. All patients who relapsed were treated with salvage chemotherapy; 6 patients required additional surgical procedures. There was no testis cancer-related deaths. CONCLUSIONS: Two-year RFS for patients with pN0 pRPLND pathology is excellent. All recurrences were outside of the retroperitoneum, suggesting subclinical distant metastases at time of surgery and the benefits of a bilateral template dissection. Improved diagnostics may help better identify patients with disease within or outside of the retroperitoneum prior to pRPLND, helping guide treatment decisions.

12.
Sci Total Environ ; 954: 176224, 2024 Sep 11.
Article in English | MEDLINE | ID: mdl-39270858

ABSTRACT

Per- and polyfluoroalkyl substances (PFAS) are a class of globally ubiquitous persistent organic pollutants (POPs). The developmental and reproductive toxicity of PFAS have attracted considerable attention. However, the influence of PFAS exposure on genomic stability of germ cells remains unexplored. In this study, we evaluated long-term reproductive toxicity of environmentally relevant levels of four long-chain PFAS compounds: perfluorooctanoic acid (PFOA, C8), perfluorononanoic acid (PFNA, C9), perfluorodecanoic acid (PFDA, C10), and perfluorooctanesulfonic acid (PFOS, C8), and examined their germ-cell mutagenicity in Caenorhabditis elegans. Our findings reveal that multigenerational exposure to PFAS exhibited minor impacts on development and reproduction of worms. Among all tested PFAS, PFNA significantly increased mutation frequencies of progeny by preferentially inducing T:A â†’ C:G substitutions and small indels within repetitive regions. Further analysis of mutation spectra uncovered elevated frequencies of microhomology-mediated deletions and large deletions in PFOA-treated worms, indicating its potential activity in eliciting DNA double-strand breaks. This study provides the first comparative analysis of the genome-wide mutational profile of PFAS compounds, underscoring the importance of assessing germ-cell mutagenic actions of long-chain PFAS.

13.
Eur Urol Open Sci ; 68: 68-74, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39308640

ABSTRACT

Background and objective: Follow-up for patients with testicular cancer should ensure early detection of relapses. Optimal schedules and minimum requirements for cross-sectional imaging are not clearly defined, and guideline recommendations differ. Our aim was to analyse the clinical impact of different imaging modalities for detection of relapse in a large prospective cohort (Swiss Austrian German Testicular Cancer Cohort Study, SAG TCCS). Methods: Patients with seminoma or nonseminoma were prospectively enrolled between January 2014 and February 2023 after initial treatment (n = 1175). Follow-up according to the study schedule was individualised for histology and disease stage. Only patients who had received primary treatment were considered. We analysed the total number of imaging modalities and scans identifying relapse and the timing of relapse. Key findings and limitations: We analysed data for 1006 patients (64% seminoma, 36% nonseminoma); 76% had stage I disease. Active surveillance was the most frequent management strategy (65%). Recurrence occurred in 82 patients, corresponding to a 5-yr relapse-free survival rate of 90.1% (95% confidence interval 87.7-92.1%). Median follow-up for patients without relapse was 38.4 mo (interquartile range 21.6-61.0). Cross-sectional imaging of the abdomen was the most important indicator of relapse 57%, abdominal CT accounting for 46% and MRI for 11%. Marker elevation indicated relapse in 24% of cases. Chest X-ray was the least useful modality, indicating relapse in just 2% of cases. Conclusions and clinical implications: On the basis of findings from our prospective register, we have adapted a follow-up schedules with an emphasis on abdominal imaging and a reduction in chest X-rays. This schedule might provide additional guidance for clinicians and will be prospectively evaluated as SAG TCCS continues to enrol patients. Patient summary: We analysed the value of different types of imaging scans for detection of relapse of testicular cancer. We used our findings to propose an optimum follow-up schedule for patients with testicular cancer.

14.
SAGE Open Med Case Rep ; 12: 2050313X241275027, 2024.
Article in English | MEDLINE | ID: mdl-39280334

ABSTRACT

Oral teratoma is a congenital neoplastic lesion with an incidence of 2%-9% of all teratomas. It comprises variable amounts of all three germ cell layers. The lesion is graded on histology depending upon the presence of immature components. The most common sites of presentation are the sacrococcygeal area and head and neck with slight female predominance. Our report is based on a case that was received for histopathological evaluation. It consisted of a 20-week fetus with a huge mass protruding from oral orifice measuring 10.8 × 6.7 cm. Histological examination of the tumor revealed immature teratoma-oropharynx.

15.
Chin Clin Oncol ; 13(Suppl 1): AB039, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39295357

ABSTRACT

BACKGROUND: Intracranial germ cell tumors are rare neoplasms seen mainly in children and adolescents. Compared to non-germinomatous germ cell tumors (NGGCTs), germinomas typically respond well to chemo-radiotherapy and portend a better prognosis. We report here a patient with intracranial germinoma which showed complete remission following chemo-radiotherapy but re-presented with malignant transformation to NGGCT thirteen years later. We then performed a literature review to understand the treatment strategy and outcome of this rare phenomenon. METHODS: Review of the patient's case note, followed by a literature review of the topic. RESULTS: A 13-year-old male presented with 6 weeks of polyuria and polydipsia. Imaging showed bifocal (suprasellar and pineal) lesions. Histology from an open biopsy diagnosed a germinoma. He underwent extended whole ventricular irradiation with local boost and chemotherapy, which led to complete resolution on imaging. Thirteen years later, he re-presented with headaches and diabetes insipidus. Imaging showed a new right frontal lesion with elevated serum beta-human chorionic gonadotropin (ß-hCG) and alpha-fetoprotein (AFP). The tumor was excised with histology confirming a mixed tumor comprising germinoma, yolk sac, and choriocarcinoma. A literature review returned eight case reports of malignant transformation of intracranial germinoma to NGGCTs, covering eight patients (seven males, and one female; aged 5-23 years old). Four had the primary tumor located in the pineal region, three in the suprasellar region, and one at both sites. Recurrence with malignant transformation occurred at a median of 24.5 months after initial diagnosis (range, 5 months to 14 years). Five patients had recurrences intra-abdominally, all of whom had a ventriculoperitoneal shunt (VPS) inserted during the treatment of the initial tumor. Of the remaining three intracranial recurrences, two were at the same site while one at a distant site. The most common histology was yolk sac tumor (five patients), followed by two each of immature teratoma, choriocarcinoma, and embryonal carcinoma (some were mixed germ cell tumors). Of those with intra-abdominal recurrence, four died within 2 months of diagnosis. Those with intracranial recurrences survived longer, with a median survival of 15 months, and one longer than 27 months. CONCLUSIONS: Malignant transformation to NGGCTs is rare. Relapse can occur intracranially, or in cases where VPS was present, intraabdominally. Outcomes following transformation were poor despite aggressive treatment, with those intra-abdominal recurrences faring much worse.


Subject(s)
Brain Neoplasms , Germinoma , Neoplasms, Germ Cell and Embryonal , Humans , Male , Adolescent , Neoplasms, Germ Cell and Embryonal/therapy , Neoplasms, Germ Cell and Embryonal/pathology , Germinoma/therapy , Brain Neoplasms/therapy , Cell Transformation, Neoplastic , Treatment Outcome , Incidence , Testicular Neoplasms
16.
Chin Clin Oncol ; 13(Suppl 1): AB065, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39295383

ABSTRACT

BACKGROUND: Basal ganglia germ cell tumor (GCT) in an adult male is quite rare. Intracranial germ cells tumor usually occurs in the midline axis, involving pituitary, sellar region, or both. Only in rare circumstances GCTs developed in basal ganglia. CASE DESCRIPTION: In this case report, we presented a patient with a main complaint of progressive visual loss from his right eye from one year prior. He had been going to the ophthalmologist but there was no improvement. A brain magnetic resonance imaging (MRI) revealed a large left basal ganglia tumor with involvement of the hypothalamus and uncus, causing pressure on the optic and oculomotor nerve. Interestingly, the patient had no decrease in motor function. Complaints of severe headache, persistent vomiting, and decrease of vision of his left eye prompt us to conduct an urgent craniotomy tumor excision. As the patient had no motor deficit prior to surgery, we chose to do a transcortical approach through the left Kocher's point, entering the left ventricle, and accessing the tumour from the floor of the frontal horn. The surgery went uneventfully. Following the surgery the patient had no motor weakness, no complaint of headache and vomiting. The visual complaints persisted. And the pathological anatomy resulted in germinoma, in which the patient underwent radiotherapy for the follow up treatment. CONCLUSIONS: Basal ganglia germinoma in adult is a rare occurrence, and due to its location, the surgical approach to access the mass should be individualized in each patient. Transcortical approach from the left Kocher's point was a safe and accessible approach for our patient. As the tumor was close to important structures such as hypothalamus, thalamus, and basal ganglia, only partial excision was done.


Subject(s)
Basal Ganglia , Neoplasms, Germ Cell and Embryonal , Humans , Male , Adult , Neoplasms, Germ Cell and Embryonal/complications , Basal Ganglia/pathology , Magnetic Resonance Imaging/methods , Brain Neoplasms/complications , Brain Neoplasms/pathology , Vision Disorders/etiology
17.
Childs Nerv Syst ; 2024 Sep 03.
Article in English | MEDLINE | ID: mdl-39225727

ABSTRACT

Mature teratoma is a subtype of intracranial germ cell tumors (GCTs), distinguished from malignant GCTs by its benign nature and excellent prognosis. Typically, no adjuvant therapy is recommended following gross total resection (GTR). We report a case of a prepubertal girl with a suprasellar mature teratoma that recurred as a germinoma 6 months post-GTR. A 7-year-old girl presented with headache and polydipsia. Imaging revealed a suprasellar mass. The patient underwent GTR, and pathological diagnosis confirmed a mature teratoma without other GCT components. Six months later, MRI identified a newly developed suprasellar mass adjacent to the optic chiasm. A second surgery confirmed the mass as a germinoma. The patient subsequently underwent adjuvant chemotherapy combined with proton therapy, resulting in complete remission. The diagnosis of mature teratoma must be approached with caution, and thorough follow-up is imperative, particularly in cases involving female patients, prepubertal age, or non-pineal locations.

18.
Int J Clin Oncol ; 2024 Sep 05.
Article in English | MEDLINE | ID: mdl-39235705

ABSTRACT

OBJECTIVES: Mediastinal germ cell tumors are rare and few large-scale studies on mediastinal germ cell tumors are reported. We aimed to investigate the clinical characteristics and survival outcomes of patients with mediastinum germ cell tumors in Japan. METHODS: A hospital-based cancer registry data in Japan was used to identify and enroll patients diagnosed with mediastinal germ cell tumors in 2012-2013. The datasets were registered from 80 institutions. RESULTS: The selection criteria were met by 123 patients, the majority of whom were male. The median age at diagnosis was 39 years (range 25-89 years) and the most common age groups at diagnosis was 30-39 years, followed by 40-49 years and ≥ 50 years. The histology of non-seminoma (55.3%) was slightly more frequent than that of seminoma (44.7%). The most common histological subtype in non-seminoma was yolk sac tumor, followed by mixed germ cell tumor. The 5-year survival of seminoma and non-seminoma were 96.4% and 57.3%, respectively (p < 0.001). Non-seminomatous mediastinal germ cell tumors, malignant teratomas, mixed germ cell tumors, and yolk sac tumors had comparable survival rates, while those with choriocarcinoma showed the worst prognosis. CONCLUSIONS: This is the first report showing the clinical characteristics and survival outcomes of mediastinal germ cell tumors in Japan using a real-world large cohort database.

19.
Clin Case Rep ; 12(9): e9417, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39229299

ABSTRACT

Epicardial metastasis from mixed germ cell tumors is exceedingly rare and poses a significant risk for cardiac morbidity. This case highlights the crucial need for comprehensive systemic evaluation in patients with known malignancies presenting with cardiac symptoms.

20.
Cureus ; 16(8): e66290, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39238734

ABSTRACT

Teratomas are classified as germ-cell tumors. They occur more frequently in the gonads, but extragonadal localization can also occur. Retroperitoneal teratomas are rare and require multidisciplinary management. We report the case of a 20-year-old patient who presented with an immature retroperitoneal teratoma. The patient initially underwent a retroperitoneal mass resection, which resulted in positive resection margins and a residual mass observed in post-operative imaging, necessitating treatment with platinum-based chemotherapy. The purpose of this publication is to highlight the characteristics of retroperitoneal teratoma, along with diagnostic criteria and treatment approaches.

SELECTION OF CITATIONS
SEARCH DETAIL