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Journal of Medical Case Reports May 2024Mesonephric adenocarcinoma is an extremely rare subtype of uterine cervical cancer that is associated with a poor prognosis and for which a standardized treatment...
BACKGROUND
Mesonephric adenocarcinoma is an extremely rare subtype of uterine cervical cancer that is associated with a poor prognosis and for which a standardized treatment protocol has not been established. Carbon ion radiotherapy (CIRT) is an emerging radiotherapy modality that has been shown to have a favorable anti-tumor effect, even for tumors resistant to conventional photon radiotherapy or chemotherapy. However, there is no report on CIRT outcomes for mesonephric adenocarcinoma of the uterine cervix.
CASE PRESENTATION
We treated a 47-year-old Japanese woman with mesonephric adenocarcinoma of the uterine cervix (T2bN0M0 and stage IIB according to the 7th edition of the Union for International Cancer Control and International Federation of Gynecology and Obstetrics, respectively) with CIRT combined with brachytherapy and concurrent chemotherapy. CIRT consisted of whole pelvic irradiation and boost irradiation to the gross tumor; 36.0 Gy (relative biological effectiveness [RBE]) in 12 fractions and 19.2 Gy (RBE) in 4 fractions, respectively, performed once a day, four times per week. Computed tomography-based image-guided adaptive brachytherapy was performed after completion of CIRT, for which the D (i.e., the dose prescribed to 90% of the target volume) for the high-risk clinical target volume was 20.4 Gy in a total of 3 sessions in 2 weeks. A weekly cisplatin (40 mg/m) dose was administered concomitantly with the radiotherapy for a total of five courses. From 4 months post-CIRT, the patient developed metastasis of the lung, with a total of 10 lung metastases over 70 months; these lesions were treated on each occasion by photon stereotactic body radiotherapy and/or systemic therapy. At 8 years from initial treatment (i.e., 2 years after the last treatment), the patient is alive without any evidence of recurrence and maintains a high quality of life.
CONCLUSIONS
This is the first report of CIRT for treatment of mesonephric adenocarcinoma of the uterine cervix. The present case indicates the potential efficacy of CIRT in combination with brachytherapy for treatment of this disease.
Topics: Humans; Female; Middle Aged; Uterine Cervical Neoplasms; Adenocarcinoma; Heavy Ion Radiotherapy; Brachytherapy; Treatment Outcome; Chemoradiotherapy
PubMed: 38720351
DOI: 10.1186/s13256-024-04548-6 -
AME Case Reports 2024Rudimentary horn pregnancy (RHP) is a special type of ectopic pregnancy and its pathophysiological basis is an abnormal fusion of the bilateral accessory mesonephric...
BACKGROUND
Rudimentary horn pregnancy (RHP) is a special type of ectopic pregnancy and its pathophysiological basis is an abnormal fusion of the bilateral accessory mesonephric duct during the embryonic period. If sonographers lack experience to this disease, it is easily to be misdiagnosed in the early period, which often leads to rupture of the pregnant horn and life-threatening bleeding. Therefore, a high index of vigilance is required.
CASE DESCRIPTION
We present a case of a 27-year-old female who went to the department of emergency due to menopause, pelvic pain and elevated human chorionic gonadotropin (hCG) (above 200,000 IU/L). Sonographic examination showed uterus only had the right horn and endometrium was thickened about 1.7 cm without gestational sac (GS) in the uterine cavity. Besides, a 3.5×3.0 cm GS was found between the left ovary and corpus uteri. RHP was suspected by sonographer, and the patient underwent laparoscopy. Obstetricians and gynecologists removed the rudimentary horn and the left fallopian tube. The patient made a good recovery and was soon discharged home after surgery.
CONCLUSIONS
This article analyzed one case and summarized ultrasonic characteristics of RHP which may help to improve the early diagnosis of RHP. If necessary, other imaging such as magnetic resonance imaging (MRI) can be combined to make a clear diagnosis and treatment as soon as possible.
PubMed: 38711904
DOI: 10.21037/acr-23-164 -
Clinical Cancer Research : An Official... Apr 2024We aimed to describe RAS mutations in gynecologic cancers as they relate to clinicopathologic and genomic features, survival, and therapeutic implications.
BACKGROUND
We aimed to describe RAS mutations in gynecologic cancers as they relate to clinicopathologic and genomic features, survival, and therapeutic implications.
METHODS
Gynecologic cancers with available somatic molecular profiling data at our institution between February 2010 and August 2022 were included and grouped by RAS mutation status. Overall survival was estimated by Kaplan-Meier method, and multivariable analysis was performed using Cox proportional-hazards model.
RESULTS
Of 3328 gynecologic cancers, 523 (15.7%) showed any RAS mutation. Patients with RAS-mutated tumors were younger (57 vs 60 years non-mutated), had higher prevalence of endometriosis (27.3% vs 16.9%), and lower grades (grade 1/2, 43.2% vs 8.1%, all p<0.0001). Highest prevalence of KRAS mutation was in mesonephric-like endometrial (100%, n=9/9), mesonephric-like ovarian (83.3%, n=5/6), mucinous ovarian (60.4%), and low-grade serous ovarian (44.4%) cancers. After adjustment for age, cancer type, and grade, RAS mutation was associated with worse overall survival (HR=1.3, p=0.001). Specific mutations were in KRAS (13.5%), NRAS (2.0%), and HRAS (0.51%), most commonly KRAS G12D (28.4%) and G12V (26.1%). Common co-mutations were PIK3CA (30.9%), PTEN(28.8%), ARID1A (28.0%), and TP53 (27.9%), of which 64.7% were actionable. RAS+MAPK pathway-targeted therapies were administered to 62 patients with RAS-mutated cancers. While overall survival was significantly higher with therapy (8.4 years [95%CI 5.5-12.0] vs 5.5 years [95%CI 4.6-6.6], HR=0.67, p=0.031), this effect did not persist in multivariable analysis.
CONCLUSION
RAS mutations in gynecologic cancers have a distinct histopathologic distribution and may impact overall survival. PIK3CA, PTEN, and ARID1A are potentially actionable co-alterations. RAS pathway-targeted therapy should be considered.
PubMed: 38687597
DOI: 10.1158/1078-0432.CCR-23-2819 -
Anticancer Research May 2024Both mesonephric adenocarcinoma (MA) and mesonephric-like adenocarcinoma (MLA) express thyroid transcription factor 1 (TTF1). TTF1 is also considered a highly sensitive...
Diagnostic Value of Immunostaining for Thyroid Transcription Factor 1 (TTF1) and Paired Box 8 (PAX8) in Distinguishing Pulmonary Metastases of Mesonephric and Mesonephric-like Adenocarcinomas from Primary Lung Adenocarcinomas.
BACKGROUND/AIM
Both mesonephric adenocarcinoma (MA) and mesonephric-like adenocarcinoma (MLA) express thyroid transcription factor 1 (TTF1). TTF1 is also considered a highly sensitive and specific diagnostic marker for primary lung adenocarcinoma (PLA). However, distinguishing PLA from pulmonary metastatic MA/MLA (PMM) based on the expression of TTF1 alone can be difficult. This study aimed to investigate the expression of TTF1 and paired box 8 (PAX8) and assess their value in distinguishing PMM from PLA.
PATIENTS AND METHODS
We reviewed the electronic medical records and pathology slides of eight PMM cases. We conducted immunostaining for TTF1 and PAX8 in 6, 8, and 21 cases of primary MA/MLA, PMM, and PLA, respectively.
RESULTS
Two patients with stage IB uterine MLA developed lung metastases at 5 and 57 months after hysterectomy. Solitary pulmonary nodules were suspected to be primary lung cancer in two patients. Compared to primary tumors, all matched PMMs exhibited reduced TTF1 immunoreactivity. In contrast, the majority of PLAs showed uniform and intense TTF1 expression. All except one PMM exhibited diffuse and strong PAX8 expression, while only one PLA showed focal and weak PAX8 expression.
CONCLUSION
Immunostaining for TTF1 and PAX8 can help in distinguishing PMM from PLA in the diagnosis of pulmonary lesions detected in patients with a history of MA/MLA.
Topics: Female; Humans; Male; Adenocarcinoma; Adenocarcinoma of Lung; Biomarkers, Tumor; Diagnosis, Differential; DNA-Binding Proteins; Immunohistochemistry; Lung Neoplasms; PAX8 Transcription Factor; Thyroid Nuclear Factor 1; Transcription Factors
PubMed: 38677751
DOI: 10.21873/anticanres.17022 -
Medicina (Kaunas, Lithuania) Mar 2024: Neoplasms of the vagina are rare and account for 1-2% of all tumors of the female reproductive system. Primary neoplasms of the vagina are most often carcinomas...
: Neoplasms of the vagina are rare and account for 1-2% of all tumors of the female reproductive system. Primary neoplasms of the vagina are most often carcinomas originating from squamous or glandular epithelium. Of the primary glandular tumors, clear cell, endometrioid, and serous adenocarcinomas are the most common types, while mucinous and mesonephric types are very rare. Mucinous adenocarcinoma is histologically subclassified into endocervical and intestinal types. We add to the existing literature another case of an extremely rare gynecological neoplasm-primary vaginal mucinous adenocarcinoma (PVMAC) intestinal type associated with vaginal villous adenoma with high-grade dysplasia. We discuss the clinical, radiological and morphological features of this rare entity. : We report a case of a 59-year-old woman with PVMAC intestinal type associated with vaginal villous adenoma with high-grade dysplasia. The patient was evaluated with a gynecological exam, and biopsy, curettage and tumor excision were performed. The positron emission tomography-computed tomography (PET/CT) scan, at the level of the pelvis, supported the primary location of the disease. Histological and immunohistochemical methods were applied. : The gynecological examination of the vagina revealed an exophytic polypoid mass with a diameter of 3 cm, located on the posterior wall, in the area of introitus vaginae. The PET/CT scan revealed a hypermetabolic malignant formation involving the vagina and anal canal, without evidence of pelvic and inguinal lymphadenopathy, and also, it excluded disease at sites other than the vagina. The histological and immunohistochemical investigations, as well as the clinical and radiological data, lent support to the diagnosis "primary vaginal mucinous adenocarcinoma intestinal type". : PVMAC intestinal type is a rare gynecological pathology, which presents a serious challenge for oncogynecologists, radiologists and pathologists.
Topics: Humans; Female; Middle Aged; Adenocarcinoma, Mucinous; Vaginal Neoplasms; Positron Emission Tomography Computed Tomography; Vagina
PubMed: 38674171
DOI: 10.3390/medicina60040525 -
Asian Journal of Surgery Jun 2024
Topics: Humans; Female; Uterine Neoplasms; Adenocarcinoma; Middle Aged
PubMed: 38653698
DOI: 10.1016/j.asjsur.2024.03.124 -
The American Journal of Surgical... Jul 2024Endometrial somatically derived yolk sac tumors are characterized by yolk sac morphology with AFP, SALL-4, and/or Glypican-3 immunoexpression. Yolk sac marker...
Yolk Sac Differentiation in Endometrial Carcinoma: Incidence and Clinicopathologic Features of Somatically Derived Yolk Sac Tumors Versus Carcinomas With Nonspecific Immunoexpression of Yolk Sac Markers.
Endometrial somatically derived yolk sac tumors are characterized by yolk sac morphology with AFP, SALL-4, and/or Glypican-3 immunoexpression. Yolk sac marker expression, however, is not limited to tumors with overt yolk sac histology. Three hundred consecutive endometrial malignancies were assessed for immunomarkers of yolk sac differentiation. Of these, 9% expressed ≥1 yolk sac marker, including 29% of high-grade tumors. Only 3 (1%) met morphologic criteria for yolk sac differentiation; these were originally diagnosed as serous, high-grade NOS, and dedifferentiated carcinoma. Two were MMR-intact and comprised exclusively of yolk sac elements, while the dedifferentiated case was MMR deficient and had a background low-grade endometrioid carcinoma; this case also showed BRG1 loss. All 3 were INI1 intact. Nonspecific yolk sac marker expression was seen in 14 carcinosarcomas, 4 endometrioid, 2 serous, 1 clear cell, 1 dedifferentiated, 1 mixed serous/clear cell, and 1 mesonephric-like carcinoma. INI1 was intact in all cases; one showed BRG1 loss. Twenty were MMR-intact, and 4 were MMR deficient. All MMR-deficient cases with yolk sac marker expression, both with and without true yolk sac morphology, had no evidence of residual disease on follow-up, whereas 82% of MMR-intact cases developed recurrent/metastatic disease. In summary, endometrial somatically derived yolk sac tumors were rare but under-recognized. While AFP immunostaining was specific for this diagnosis, Glypican-3 and SALL-4 expression was seen in a variety of other high-grade carcinomas. INI1 loss was not associated with yolk sac morphology or immunomarker expression in the endometrium, and BRG1 loss was rare. All patients with MMR-deficient carcinomas with yolk sac immunoexpression +/- morphology were disease-free on follow-up, whereas the majority of MMR-intact cancers showed aggressive disease.
Topics: Humans; Female; Endometrial Neoplasms; Biomarkers, Tumor; Endodermal Sinus Tumor; Aged; Middle Aged; Immunohistochemistry; Transcription Factors; Aged, 80 and over; Adult; Glypicans; Cell Differentiation; alpha-Fetoproteins; Incidence; Neoplasm Grading; DNA Helicases; Nuclear Proteins; SMARCB1 Protein; Carcinoma
PubMed: 38651612
DOI: 10.1097/PAS.0000000000002230 -
Journal of Indian Association of... 2024Zinner syndrome, a rare congenital anomaly affecting males, is characterized by atresia of the ejaculatory duct, seminal vesicle cysts, and ipsilateral renal agenesis....
Zinner syndrome, a rare congenital anomaly affecting males, is characterized by atresia of the ejaculatory duct, seminal vesicle cysts, and ipsilateral renal agenesis. This case report details a 2-year-old boy successfully treated with laparoscopic excision of a dilated vas deferens and seminal vesicle cyst. The rarity of Zinner syndrome in pediatric patients underscores the importance of understanding its diagnosis and minimally invasive surgical management.
PubMed: 38616843
DOI: 10.4103/jiaps.jiaps_249_23 -
The Journal of Pathology Jun 2024Mesonephric adenocarcinomas (MAs) and mesonephric-like adenocarcinomas (MLAs) are rare, aggressive neoplasms that arise in the gynecologic tract and show overlapping...
Mesonephric adenocarcinomas (MAs) and mesonephric-like adenocarcinomas (MLAs) are rare, aggressive neoplasms that arise in the gynecologic tract and show overlapping morphologic, immunohistochemical, and molecular features. While MAs occur in the cervix and are thought to arise from mesonephric remnants, MLAs occur in the endometrium and ovary and are believed to originate from transdifferentiation of Müllerian lesions. Both MAs and MLAs show a variety of architectural patterns, exhibit frequent expression of GATA3 by immunohistochemistry, and harbor KRAS mutations. In a recent article published in The Journal of Pathology, Kommoss and colleagues used DNA methylation profiling to extend these similarities and showed that MLAs and MAs cluster together based on their epigenetic signatures and are epigenetically distinct from other Müllerian adenocarcinomas. They also showed that MLAs and MAs harbor a high number of global copy number alterations. This study provides evidence that MLAs more closely resemble MAs than Müllerian carcinomas on an epigenetic level. As a result, the authors argue that MLA should be renamed 'mesonephric-type adenocarcinoma.' Further research is needed to establish the relationship between these two entities, their etiology, and pathogenesis. © 2024 The Pathological Society of Great Britain and Ireland.
Topics: Humans; Adenocarcinoma; Female; Epigenesis, Genetic; Uterine Cervical Neoplasms; DNA Methylation; Mullerian Ducts; Mesonephroma; Biomarkers, Tumor; Epigenome
PubMed: 38593211
DOI: 10.1002/path.6285