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Extragonadal Germ Cell Tumors: A Single Institution Experience with Clinicopathological Correlation.International Journal of Surgical... Oct 2023Extragonadal germ cell tumors (EGCTs) are a rare heterogeneous group of tumors without evidence of primary gonadal germ cell tumors. They account for 2%-5% of overall...
Extragonadal germ cell tumors (EGCTs) are a rare heterogeneous group of tumors without evidence of primary gonadal germ cell tumors. They account for 2%-5% of overall malignancies. EGCTs are often not clinically suspected, making them challenging for pathologists. In this retrospective observational study, we describe our institutional experience among EGCTs with clinicopathological correlation. . All patients diagnosed as EGCTs from January 2014 to April 2023 were collected. All relevant clinical data and serum markers were retrieved from hospital medical records. Histopathology and immunohistochemistry slides were reviewed. . The present study included a total of 56 patients; 34 (60%) men and 22 (40%) women with a men-to-women ratio of 1.5:1. Of them, 1 patient had congenital/neonatal EGCTs, 21 patients had prepubertal EGCTs, and 34 had post-pubertal EGCTs. The common sites included are mediastinum (45%), sacrococcyx (18%), retroperitoneum (14%), and central nervous system (12%). The other rare sites were the vagina, liver, colon, and duodenum. The common germ cell tumor included mature teratoma (34%), mixed germ cell tumor (27%), seminoma/germinoma (12%), pure yolk sac tumor (11%), immature teratoma (9%), mature teratoma with somatic tumor (5%), and embryonal carcinoma (2%). All histological diagnoses of germ cell tumors were confirmed with IHC markers like PLAP, CD117 (KIT), AFP, LIN28, CD30, and β-hCG. Pre and posttreatment serum tumor marker levels were available in 37 patients. All our treated patients had a decrease or normal tumor marker levels post-therapy. . In our study, a heterogeneous group of germ cell tumors was seen. Most of them were seen in post-pubertal adolescents and young adults. Early intervention by platinum-based combination chemotherapy in seminoma and nonseminomatous germ cell tumors has significantly improved the prognosis of malignant EGCTs similar to their germ cell counterparts.
PubMed: 37853749
DOI: 10.1177/10668969231201413 -
European Review For Medical and... Oct 2023Human papillomavirus (HPV), which is known to play a very important role in genital area (vulva, vagina, and cervix) cancers in women, is responsible for almost all...
OBJECTIVE
Human papillomavirus (HPV), which is known to play a very important role in genital area (vulva, vagina, and cervix) cancers in women, is responsible for almost all cervical cancers. However, a significant proportion of cervical carcinomas (approximately 7%) is HPV-negative. Therefore, there are still two important questions to be answered: 1. Why is HPV Deoxyribonucleic acid (DNA) not found in all cervical carcinomas? 2. Are HPV-DNA-negative cervical cancers a specific subgroup of cervical cancers with different biological behavior (worse prognosis)? In this article, we aimed to evaluate the clinicopathological characteristics and survival of patients with confirmed HPV-negative tumors in order to answer these two questions.
PATIENTS AND METHODS
A total of 97 patients who underwent HPV-DNA testing and received a histological diagnosis of cervical cancer were included in the study. 14 HPV-DNA negative and 83 HPV-DNA positive cervical carcinoma patients were detected. Demographic profiles, clinicopathological characteristics, progression-free, and overall survival of all patients were analyzed.
RESULTS
Women with HPV-negative tumors were diagnosed at an older age range (p=0.05), and their demographic data other than age range were similar to HPV-positive tumors. P16 staining pattern was not observed in any of the HPV-negative tumors (p=0.001), and a positive P53 staining pattern was detected in 35.7% of the HPV-negative tumors. Although disease-free survival (PFS) (p=0.224) and overall survival (OS) (p=0.219) were worse in the HPV-negative patient group, this difference was not statistically significant.
CONCLUSIONS
HPV-negative cervical cancers do not have a poor prognosis unlike their counterparts in other anatomical regions where HPV-associated tumors are present.
Topics: Humans; Female; Uterine Cervical Neoplasms; Papillomavirus Infections; Prognosis; Disease-Free Survival; Human Papillomavirus Viruses; DNA, Viral; Papillomaviridae
PubMed: 37843334
DOI: 10.26355/eurrev_202310_33948 -
BMJ Case Reports Oct 2023A primiparous woman in her mid-30s presented at 31 weeks of gestation with a large vaginal mass obstructing the cervix, initially concerning for malignancy. Pelvic MRI...
A primiparous woman in her mid-30s presented at 31 weeks of gestation with a large vaginal mass obstructing the cervix, initially concerning for malignancy. Pelvic MRI confirmed a vaginal lesion located on the lateral wall, and histopathology diagnosed a giant condyloma acuminatum. The vaginal lesion was surgically resected at 34 weeks of gestation, and the patient proceeded to have a successful vaginal birth. Our case report demonstrates an unusual presentation of a rare anogenital disease and highlights a differential diagnosis for cervical and vaginal lesions.
Topics: Pregnancy; Female; Humans; Buschke-Lowenstein Tumor; Condylomata Acuminata; Diagnosis, Differential; Vagina
PubMed: 37788919
DOI: 10.1136/bcr-2023-255996 -
Anticancer Research Oct 2023Vaginal intraepithelial neoplasia (VaIN) is a rare human papillomavirus (HPV)- related premalignant condition. VaIN lesions are diagnosed histologically through...
BACKGROUND/AIM
Vaginal intraepithelial neoplasia (VaIN) is a rare human papillomavirus (HPV)- related premalignant condition. VaIN lesions are diagnosed histologically through colposcopy-guided biopsies of suspicious areas, conduced by gynecologists with expertise in lower genital tract diseases. The present study aimed to evaluate the accuracy of colposcopy in the diagnosis of VaIN of any grade.
PATIENTS AND METHODS
We conducted a retrospective analysis on a cohort of 149 women diagnosed with low grade (LG)-VaIN (VaIN1) and high grade (HG)-VaIN (VaIN2-3) between 2010 and 2022 at the "Regional Referral Center for Prevention, Diagnosis and Treatment of HPV-related Genital Disorders", Ospedale Maggiore Policlinico, Milan, Italy. All women had been referred to our center for an abnormal Pap smear or as part of routine follow-up of other HPV-related diseases and had undergone a vaginal biopsy under colposcopic guidance.
RESULTS
The distribution of the histological grades of VaIN lesions was the following: 62 women (41.6%) were diagnosed with VaIN1, 51 (34.2%) with VaIN2, and 36 (24.2%) with VaIN3. Grade II (major) abnormal colposcopic patterns were recorded in 71 cases (47.7%) and were more commonly observed in women with VaIN3 (80.6%). However, we found a poor and not statistically significant association between colposcopic and histological grade of VaIN. The sensitivity, specificity, positive predictive value, and negative predictive value of colposcopy for histologically confirmed VaIN were 56.3%, 64.5%, 69% and 51.2%, respectively. The overall diagnostic accuracy of colposcopy was 59.7%.
CONCLUSION
Colposcopy-guided biopsy plays an important role in the diagnosis of VaIN and in the distinction between low and high-grade lesions. Our data show that major colposcopic abnormalities moderately correlate with HG-VaIN and that grade I colposcopic findings do not exclude HG-VaIN, especially VaIN2. Targeted biopsies of suspicious vaginal areas must be performed in all women with an abnormal Pap smear.
Topics: Pregnancy; Female; Humans; Retrospective Studies; Papillomavirus Infections; Vagina; Vaginal Neoplasms; Colposcopy; Uterine Cervical Dysplasia; Carcinoma in Situ; Human Papillomavirus Viruses; Uterine Cervical Neoplasms; Vaginal Smears
PubMed: 37772563
DOI: 10.21873/anticanres.16658 -
Cancers Sep 2023(1) Background: Vaginal intraepithelial neoplasia (VaIN) is a rare premalignant disease caused by persistent human papillomavirus (HPV) infection. Diagnosing VaIN is...
(1) Background: Vaginal intraepithelial neoplasia (VaIN) is a rare premalignant disease caused by persistent human papillomavirus (HPV) infection. Diagnosing VaIN is challenging; abnormal cytology and positive HPV tests are usually the first signs, but published data on their accuracy for detecting it are rare and contradictory. The aim of this study is to compare the results of hrHPV and cytology co-testing with the histological findings of the vagina. (2) Methods: In the certified Dysplasia Unit at Erlangen University Hospital, cytology and HPV samples from the uterine cervix or vaginal wall after hysterectomy were obtained between 2015 and 2023 and correlated with histological findings in biopsies from the vaginal wall. Women without vaginal biopsy findings or concomitant cervical disease were excluded. (3) Results: In all, 279 colposcopies in 209 women were included. The histological results were: benign ( = 86), VaIN I/vLSIL ( = 116), VaIN II/vHSIL ( = 41), VaIN III/vHSIL ( = 33), and carcinoma ( = 3). Accuracy for detecting VaIN was higher in women with previous hysterectomies. Positive HPV testing during colposcopy increased the likelihood for VaIN II/III/vHSIL threefold. The detection rate for VaIN III/vHSIL was 50% after hysterectomy and 36.4% without hysterectomy. (4) Conclusions: Women with risk factors for VaIN, including HPV-16 infection or prior HPV-related disease, need careful work-up of the entire vaginal wall. Hysterectomy for HPV-related disease and a history of cervical intraepithelial neoplasia (CIN) also increased the risk for VaIN II/III/vHSIL.
PubMed: 37760600
DOI: 10.3390/cancers15184633 -
Urology Case Reports Sep 2023A 74-year-old transgender female presented with urinary difficulty and a painful lesion at her neo-vagina, 47 years after undergoing gender-affirming vaginoplasty....
A 74-year-old transgender female presented with urinary difficulty and a painful lesion at her neo-vagina, 47 years after undergoing gender-affirming vaginoplasty. Initial biopsy reported Low-Grade Squamous Intraepithelial Lesion (LGSIL), while MRI revealed no inguinal or pelvic lymphadenopathy. Patient underwent partial neo-vaginectomy with wide local excision and formal urethroplasty. Pathology revealed verrucous carcinoma of the neovagina, a rare neoplasm in transgender female patients. This case highlights the importance of considering squamous cell carcinoma in the differential diagnosis of patients presenting lesions at neo-vagina and the need of screening methods for early detection of such neoplasms.
PubMed: 37719184
DOI: 10.1016/j.eucr.2023.102488 -
La Radiologia Medica Jan 2024Vulvar carcinoma is a rather uncommon gynecological malignancy affecting elderly women and the treatment of loco-regional advanced carcinoma of the vulva (LAVC) is a...
BACKGROUND
Vulvar carcinoma is a rather uncommon gynecological malignancy affecting elderly women and the treatment of loco-regional advanced carcinoma of the vulva (LAVC) is a challenge for both gynecologic and radiation oncologists. Definitive chemoradiation (CRT) is the treatment of choice, but with disappointing results. In this multicenter study (OLDLADY-1.1), several institutions have combined their retrospective data on LAVC patients to produce a real-world dataset aimed at collecting data on efficacy and safety of CRT.
METHODS
The primary study end-point was 2-year-local control (LC), secondary end-points were 2-year-metastasis free-survival (MFS), 2-year-overall survival (OS) and the rate and severity of acute and late toxicities. Participating centers were required to fill data sets including age, stage, histology, grading as well as technical/dosimetric details of CRT. Data about response, local and regional recurrence, acute and late toxicities, follow-up and outcome measures were also collected. The toxicity was a posteriori documented through the Common Terminology Criteria for Adverse Events version 5 scale.
RESULTS
Retrospective analysis was performed on 65 patients with primary or recurrent LAVC treated at five different radiation oncology institutions covering 11-year time interval (February 2010-November 2021). Median age at diagnosis was 72 years (range 32-89). With a median follow-up of 19 months (range 1-114 months), 2-year actuarial LC, MFS and OS rate were 43.2%, 84.9% and 59.7%, respectively. In 29 patients (44%), CRT was temporarily stopped (median 5 days, range 1-53 days) due to toxicity. The treatment interruption was statistically significant at univariate analysis of factors predicting LC (p: 0.05) and OS rate (p: 0.011), and it was confirmed at the multivariate analysis for LC rate (p: 0.032). In terms of toxicity profile, no G4 event was recorded. Most adverse events were reported as grade 1 or 2. Only 14 acute G3 toxicities, all cutaneous, and 7 late G3 events (3 genitourinary, 3 cutaneous, and 1 vaginal stenosis) were recorded.
CONCLUSION
In the context of CRT for LAVC, the present study reports encouraging results even if there is clearly room for further improvements, in terms of both treatment outcomes, toxicity and treatment interruption management.
Topics: Humans; Female; Aged; Adult; Middle Aged; Aged, 80 and over; Vulvar Neoplasms; Retrospective Studies; Constriction, Pathologic; Vagina; Chemoradiotherapy; Carcinoma, Squamous Cell; Italy
PubMed: 37700153
DOI: 10.1007/s11547-023-01712-8 -
Radiotherapy and Oncology : Journal of... Dec 2023To compare two vaginal brachytherapy (VBT) schedules in postoperative endometrial carcinoma (PEC) patients considering vaginal-cuff relapses (VCR), late toxicities,...
PURPOSE
To compare two vaginal brachytherapy (VBT) schedules in postoperative endometrial carcinoma (PEC) patients considering vaginal-cuff relapses (VCR), late toxicities, dosimetry analysis and vaginal dilator use.
MATERIAL AND METHODS
110 PEC patients were treated with exclusive high-dose-rate VBT using two schedules. Group-1:44-patients received 6 Gy×3fractions (September-2011-April-2014); Group-2:66-patients were treated with 7.5 Gy×2fractions with a dose limit of equivalent total doses in 2-Gy fr (EQD2) of 68 Gy in the most exposed 2 cm of clinical target volume (CTV) (July-2015-November-2021). The dose was prescribed at 5 mm from the applicator surface. Were evaluated the overall radiation dose delivered to 90% of the CTV (D90), the CTV receiving 100% of the prescription dose (V100) and the EQD2 received in the most exposed 2 cm to dose in CTV. Late toxicity was prospectively assessed using RTOG scores for bladder and rectum and objective LENT-SOMA criteria for late vaginal toxicity (LVT).
STATISTICS
Descriptive analysis, Chi-square, Student's t-tests and Kaplan and Meier method.
RESULTS
The median follow-up was 60 months (15.9-60). There were no VCR or late toxicities in bladder or rectum. LVT ≥ G1 appeared in 26/44 (59.1%) in Group-1 and 25/66 (37.9%) in Group-2. The mean EQD2 received by the most exposed 2 cm of CTV was 63.7 Gy ± 10.0 in Group-1 and 60.5 Gy ± 3.8 in Group-2 (p = 0.063). There were no differences in adherence to vaginal dilator use ≥9 months, overall D90 and V100.
CONCLUSION
Considering the lack of vaginal relapses and similar LVT over time, 7.5 Gy×2fractions seem more efficient in terms of patient comfort, workload, and cost. This is the first study using dosimetry parameters to compare effectivity of schedules. Larger series are needed to confirm the present results.
Topics: Female; Humans; Brachytherapy; Neoplasm Recurrence, Local; Vagina; Endometrial Neoplasms; Recurrence
PubMed: 37699447
DOI: 10.1016/j.radonc.2023.109909 -
Heliyon Sep 2023Endometrial carcinoma (EC) is a disease that predominantly affects peri- and post-menopausal women and its incidence has continued to rise over recent years. Since the...
BACKGROUND
Endometrial carcinoma (EC) is a disease that predominantly affects peri- and post-menopausal women and its incidence has continued to rise over recent years. Since the gold standard for EC diagnosis-hysteroscopic biopsy-is invasive, expensive, and unsuitable for wide use, there is an urgent need for a non-invasive method that exhibits both high sensitivity and high specificity. We therefore investigated the efficacy of UterCAD (the uterine exfoliated cell chromosomal aneuploidy detector) using tampon-collected specimens for the early detection of EC.
METHODS
We prospectively recruited 51 patients with a history of abnormal bleeding and who planned to undergo hysteroscopic examination or hysterectomy between March 2020 and January 2021. Before executing an invasive procedure, a tampon was inserted into the patient's vagina for 6 h to collect exfoliated cells from the uterine cavity. Total DNA was extracted and low-coverage whole-genome sequencing was performed on an Illumina HiSeq X10, and we analyzed the differences in chromosomal status between women with EC and those bearing benign lesions using UterCAD.
RESULTS
Thirty EC patients-including 26 with endometrioid carcinoma (EEC) and four with uterine serous carcinoma (USC), as well as 14 benign cases-were enrolled in our final analysis. Copy-number variations (CNVs) were detected in tampon specimens collected from 26 EC patients (83.3%), including 21 with EEC (80.7%) and four with USC (100%). In the benign group, only one woman with focal atypical hyperplasia presented with a 10q chromosomal gain ( < 0.001). In the EC group, the most common CNVs were copy gains of 8q (N = 14), 2q (N = 4), and 10q (N = 3); and copy losses of 2q (N = 3) and 17p (N = 2). When we stratified by FIGO stage, the CNV rates in stages IA, IB, and II/III were 83.3% (15/18), 85.7% (6/7), and 80.0% (4/5), respectively. At the optimal cutoff (|Z| ≥ 2.3), UterCAD discriminated 83.3% of EC cases from benign cases, with a specificity of 92.9%.
CONCLUSIONS
We initially reported that UterCAD could serve as a non-invasive method for the early detection of EC, especially in the rare and aggressive USC subtype. The use of UterCAD might thus avoid unnecessary invasive procedures and thereby reduce the treatment burden on patients.
PubMed: 37662762
DOI: 10.1016/j.heliyon.2023.e19323 -
Oxford Medical Case Reports Aug 2023Primary clear cell carcinoma of the vagina (PCCAV) is a rare form of vaginal cancer that typically affects young women with a history of prenatal exposure to DES....
Primary clear cell carcinoma of the vagina (PCCAV) is a rare form of vaginal cancer that typically affects young women with a history of prenatal exposure to DES. However, data on non-DES PCCAV cases are limited. This report describes a case of PCCAV in a 47-year-old patient who presented with post-coital bleeding and was diagnosed with clear cell adenocarcinoma via biopsy and MRI. The patient had no history of DES exposure and further testing showed no signs of metastasis, leading to surgery and chemotherapy. Four years later, the patient presented with dyspnea, and a chest CT scan revealed a lung nodule, later confirmed to be a metastasis of clear cell adenocarcinoma from the vaginal cancer. The patient passed away a month later due to complications from COVID-19.
PubMed: 37637365
DOI: 10.1093/omcr/omad080