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Modern Pathology : An Official Journal... Jan 2023Given the association of mesonephric adenocarcinoma (MA) of the uterine cervix with florid mesonephric hyperplasia, one would expect MAs to rarely arise in other...
Given the association of mesonephric adenocarcinoma (MA) of the uterine cervix with florid mesonephric hyperplasia, one would expect MAs to rarely arise in other anatomical locations that harbor mesonephric remnants. In contrast, mesonephric-like adenocarcinoma (MLA) is thought to arise from Müllerian origin without an association with mesonephric remnants. The current case series characterizes 4 cases of MA arising in the urinary bladder (1 woman and 3 men), 1 case of MA in the perirenal region (woman), and 1 case of MLA in the ureter (woman). All cases displayed morphologic features similar to MA of the uterine cervix and MLA of the ovary and endometrium, characterized by predominant tubular and focal glandular/ductal architecture. Mesonephric remnants in the bladder wall were closely associated with adjacent MA in cases 1 and 4. MLA in case 6 was associated with mesonephric-like proliferations and endometriosis. All cases (6/6) were diffusely positive for Pax8, and all displayed a luminal pattern of CD10 staining, except case 4 for which CD10 immunostain was not available for review. Gata3 was either focally positive (cases 1, 2, and 6), negative (case 3), or diffusely positive (case 5). TTF-1 was diffusely expressed in cases 1 and 3 and negative in cases 2, 5, and 6. Although a KRAS G12C somatic mutation was detected in case 6, hotspot mutations in KRAS, NRAS, and PIK3CA were not present in other tested cases. Our study demonstrates that MAs and MLAs of the urinary tract share similar histopathogenesis, morphology, and immunophenotype to their counterparts in the female genital tract. We propose that, in the urinary tract, MA might be classified as a distinctive tumor that arises from mesonephric remnants or presumed Wolffian origin if they are not related to Müllerian-type precursors. The tumor displaying similar morphology and immunoprofile to MA but associated with Müllerian-type precursors should be classified as MLA.
Topics: Male; Female; Humans; Uterine Cervical Neoplasms; Proto-Oncogene Proteins p21(ras); Adenocarcinoma; Mesonephroma; Urinary Tract
PubMed: 36788068
DOI: 10.1016/j.modpat.2022.100031 -
Medicine Jul 2022Ovarian yolk sac tumor (YST) is a very rare malignant tumor in young women. This study aimed to explore the clinicopathological prognostic characteristics and... (Review)
Review
Clinicopathological features, prognosis, and fertility outcomes in Chinese Han women treated for ovarian yolk sac tumor: A retrospective case series study from two tertiary-care academic medical centers.
OBJECTIVE
Ovarian yolk sac tumor (YST) is a very rare malignant tumor in young women. This study aimed to explore the clinicopathological prognostic characteristics and reproductive outcomes of Chinese Han patients.
METHODS
To describe a case series study, we reviewed the clinicopathological data of 50 YST patients treated from 2 tertiary medical academic medical centers from January 2009 to December 2019. The Akaike information criterion was used to select variables. The influence of relevant characteristics on prognosis factors was analyzed by the Cox proportional hazard model.
RESULTS
The median follow-up time was 64.5 months (range from 3 to 124 months). The median age was 22.7 years (3 to 34 years). Abdominal pain (54.0%) or mass (42.0%) were the most common clinical symptoms in the early stage of diagnosis. The tumors were located bilaterally in 4 cases. 27 patients, 7 patients, 13 patients, and 3 patients were in stage I, II, III, and IV, respectively. Twenty-one stage I patients and 12 stage II to IV patients underwent fertility-preserving surgery. Of the 50 patients who received postoperative chemotherapy, 49 received the BEP regimen. At the last follow-up, 92% of the patients were still alive. The overall survival rate and disease-free survival rate were 91.6% and 90.6%, respectively. Recurrence occurred in 7 (14%) patients with a median survival time of 16.7 months (range from 3 to 50 months). Six patients had recurrence in the abdominal space. The percentage of Ki67 (P = .01) and tumor size (P = .03) were 2 important prognostic factors in multivariate analysis. In terms of survival outcomes, fertility-preserving surgery can be equivalent to radical surgery. Sixteen patients tried to conceive, and 6 patients with advanced-stage succeeded in 10 pregnancies. Of these, 6 patients successfully gave birth to 6 healthy babies.
CONCLUSIONS
The diagnosis of YST of childbearing age is very rare. Because the failure of primary treatment is related to the residual disease after salvage surgery, the fertility and survival results of patients undergoing fertility-preserving surgery are promising.
Topics: Academic Medical Centers; Adult; China; Endodermal Sinus Tumor; Female; Fertility; Humans; Neoplasm Staging; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Pregnancy; Prognosis; Retrospective Studies; Young Adult
PubMed: 35866762
DOI: 10.1097/MD.0000000000029868 -
Archives of Pathology & Laboratory... Feb 2017Extragonadal germ cell tumors are uncommon, and although they morphologically resemble their gonadal counterparts, unexpected gonadal presentation increases the... (Review)
Review
Extragonadal germ cell tumors are uncommon, and although they morphologically resemble their gonadal counterparts, unexpected gonadal presentation increases the potential for erroneous diagnoses. Yolk sac tumor is a malignant germ cell tumor characterized by an extraembryonic yolk sac line of differentiation, and relative to other germ cell tumors, is characterized by varied and diverse histologic patterns. When occurring outside of typical age parameters or in extragonadal locations, the histologic variability of yolk sac tumor and its tendency to mimic somatic tumors pose diagnostic challenges. Because extragonadal yolk sac tumor of the vulva is very rare, with only isolated case reports and small series in the literature, it is often not considered in the differential diagnosis. As both prognosis and management of yolk sac tumor differ significantly from those of somatic tumors, accurate diagnosis is essential. This review discusses histologic features of extragonadal yolk sac tumor, addresses somatic tumors arising in the vulva for which yolk sac tumor may be confused, and provides guidance with respect to the use of immunohistochemistry in the diagnosis of yolk sac tumor.
Topics: Endodermal Sinus Tumor; Female; Humans; Vulvar Neoplasms
PubMed: 27959583
DOI: 10.5858/arpa.2016-0151-SA -
Frontiers in Bioscience (Landmark... Mar 2019Testicular germ cell tumors (TGCTs) are generally rare but represent the most common solid tumors in young men. They are classified broadly into seminoma, which resemble... (Review)
Review
Testicular germ cell tumors (TGCTs) are generally rare but represent the most common solid tumors in young men. They are classified broadly into seminoma, which resemble primordial germ cells (PGCs), and non-seminoma, which are either undifferentiated (embryonic carcinoma) or differentiated (teratoma, yolk sac tumor, choriocarcinomas) patterning. A widespread role for microRNAs (miRNAs), in diverse molecular processes driving initiation and progression of various types of TGCTs has been recently studied. We discuss the involvement of different miRNAs in the development and progression of different types of TGCTs. Moreover, we highlight the aberrant expression of miRNAs in TGCTs and several targets, which may define miRNAs as oncomiRs or tumor suppressors. A better understanding of miRNA biology may ultimately yield further insight into the molecular mechanisms of tumorigenesis and new therapeutic strategies against TGCTs.
Topics: Animals; Biomarkers, Tumor; Carcinoma, Embryonal; Choriocarcinoma; Disease Progression; Endodermal Sinus Tumor; Gene Expression Profiling; Gene Expression Regulation; Humans; Male; MicroRNAs; Neoplasms, Germ Cell and Embryonal; Prognosis; Seminoma; Teratoma; Testicular Neoplasms; Treatment Outcome
PubMed: 30844711
DOI: 10.2741/4749 -
Medicine Jul 2022Testicular neoplasms are not commonly found in children and are a formidable threat if treated inappropriately. However, there is no consensus regarding its management....
Testicular neoplasms are not commonly found in children and are a formidable threat if treated inappropriately. However, there is no consensus regarding its management. This study aimed to create a holistic picture of the interprofessional team in the management of malignant testicular tumors. Seventeen patients had mixed germ cell tumors, 15 had pure yolk sac tumors, 2 had immature teratomas, 2 had teratocarcinomas, and 1 had a sex cord stromal tumor. Five lesions were diagnosed as nongerm cell tumors: 2 embryonal rhabdomyosarcomas, 2 lymphomas, and 1 acute myeloid leukemia. At initial presentation, retroperitoneal (n = 2), bone marrow (n =1), and mediastinal (n = 1) metastases were identified in 4 (10%) patients. The operative interventions performed included radical inguinal orchiectomy (n = 5), scrotal orchiectomy (n = 31), and testicular biopsy or testis-sparing enucleation of the tumor (n = 6). Postoperatively, 18 patients received either adjuvant chemotherapy (n = 14) or chemoradiation (n = 5). Five patients with mixed germ cell tumors (n = 2), group IV paratesticular rhabdomyosarcoma (n = 2), and acute myeloid leukemia with myeloid sarcoma (n =1) died of disease progression. Thirty-six patients remained alive and disease-free at the last visit. Malignant testicular tumors in children deserve proper diagnostic support from a therapeutic perspective. Any concern or suspicion of a testicular tumor warrants an inguinal approach to avoid scrotal violation.
Topics: Child; Endodermal Sinus Tumor; Humans; Male; Neoplasms, Germ Cell and Embryonal; Orchiectomy; Teratoma; Testicular Neoplasms
PubMed: 35866814
DOI: 10.1097/MD.0000000000029735 -
Journal of Cellular and Molecular... Feb 2021Yolk-sac tumours (YSTs), a germ cell tumour subtype, occur in newborns and infants as well as in young adults of age 14-44 years. In clinics, adult patients with YSTs...
Yolk-sac tumours (YSTs), a germ cell tumour subtype, occur in newborns and infants as well as in young adults of age 14-44 years. In clinics, adult patients with YSTs face a poor prognosis, as these tumours are often therapy-resistant and count for many germ cell tumour related deaths. So far, the molecular and (epi)genetic mechanisms that control development of YST are far from being understood. We deciphered the molecular and (epi)genetic mechanisms regulating YST formation by meta-analysing high-throughput data of gene and microRNA expression, DNA methylation and mutational burden. We validated our findings by qRT-PCR and immunohistochemical analyses of paediatric and adult YSTs. On a molecular level, paediatric and adult YSTs were nearly indistinguishable, but were considerably different from embryonal carcinomas, the stem cell precursor of YSTs. We identified FOXA2 as a putative key driver of YST formation, subsequently inducing AFP, GPC3, APOA1/APOB, ALB and GATA3/4/6 expression. In YSTs, WNT-, BMP- and MAPK signalling-related genes were up-regulated, while pluripotency- and (primordial) germ cell-associated genes were down-regulated. Expression of FOXA2 and related key factors seems to be regulated by DNA methylation, histone methylation / acetylation and microRNAs. Additionally, our results highlight FOXA2 as a promising new biomarker for paediatric and adult YSTs.
Topics: Age Factors; Biomarkers, Tumor; Cell Line, Tumor; DNA Methylation; Disease Susceptibility; Endodermal Sinus Tumor; Hepatocyte Nuclear Factor 3-beta; Humans; Immunohistochemistry; Models, Biological; Oncogene Proteins
PubMed: 33448076
DOI: 10.1111/jcmm.16222 -
Medicine Sep 2021Mesonephric adenocarcinoma (MNAC) is a very rare tumor that originates from mesonephric duct remnants of the female genital tract. Only a few cases were reported in the...
Mesonephric adenocarcinoma (MNAC) is a very rare tumor that originates from mesonephric duct remnants of the female genital tract. Only a few cases were reported in the literature, and most of them occurred in the cervix, extremely rare in the uterine body and ovary. MNAC was rarely reported to arise in the uterine corpus, but never was reported in the ovary. Mesonephric-like adenocarcinomas are recently suggested to describe these neoplasms arising from the uterine corpus and ovary. Due to the rareness of the disease, little is known regarding clinical characteristics, pathological diagnosis, prognosis, and optimal management strategy of MNAC in the female reproductive system. We report a series of MNACs arising from the vagina, cervix, uterine corpus, ovary, and fallopian tube, to summarize the clinical characteristics, pathological diagnosis, treatment, and prognosis.We retrospectively analyzed all MNACs in the female genital tract derived from our institute from January 2010 till January 2020. Patients' clinical details and follow-up were obtained from hospital records and scans were obtained from picture archiving and communication system.A total of 11 patients were included. The median age of onset of symptoms was 52 years. All patients underwent total hysterectomy and bilateral salpingo-oophorectomy, and lymph node dissections were performed in 7/11 (63.6%) patients. Two/eleven (18.2%) received neoadjuvant chemotherapy before surgery and 7/11 (63.6%) received adjuvant chemotherapy after primary surgery. Of the 11 patients, only 1 patient received adjuvant radiation therapy. One patient died at the end point of this study, 9 patients (81.8%) survived and 1 patient was lost to follow-up. The mean follow-up duration was 33.5 months.Although there is no consensus for the optimal treatment of this rare disease, radical surgery is considered to be the initial choice for localized lesion. Given the high malignancy, the majority of MNAC or mesonephric-like adenocarcinoma patients who underwent adjuvant chemotherapy received 4 to 8 cycles of carboplatin/paclitaxel as a first-line treatment after primary surgery with a median progression-free survival of 12 months. Treatment for recurrent disease in these patients included gemcitabine, carboplatin, and paclitaxel. Radiation was very limited in the treatment of the disease.
Topics: Adenocarcinoma; Adult; Aged; China; Female; Genital Neoplasms, Female; Genitalia, Female; Humans; Mesonephroma; Middle Aged; Retrospective Studies
PubMed: 34477176
DOI: 10.1097/MD.0000000000027174 -
Journal of Pediatric and Adolescent... Apr 2022Extragonadal yolk sac tumors (YSTs) occurring in the uterus are extremely rare. To report a uterine YST case in a prepubertal girl and review literature on uterine YST... (Review)
Review
BACKGROUND
Extragonadal yolk sac tumors (YSTs) occurring in the uterus are extremely rare. To report a uterine YST case in a prepubertal girl and review literature on uterine YST to outline clinical management in diagnosis and treatment.
CASE
We present a case of a 2-year-old girl who presented with vaginal bleeding and a pelvic mass. The diagnosis of YST was confirmed via biopsy. After four cycles of neoadjuvant chemotherapy combined with cisplatin, etoposide, and bleomycin (PEB), vaginoscopic examination and laparoscopy revealed a uterine YST without metastasis. The patient was treated with laparoscopic hysterectomy and two cycles of PEB postoperatively. During the 18 months of follow-up, the patient remained disease-free.
SUMMARY AND CONCLUSION
Primary uterine YST is extremely rare and no treatment guidelines have been established to date. Surgery combined with PEB chemotherapy is considered effective for uterine YST.
Topics: Child, Preschool; Endodermal Sinus Tumor; Female; Humans; Hysterectomy; Uterine Neoplasms; Uterus; Yolk Sac
PubMed: 34610440
DOI: 10.1016/j.jpag.2021.09.005 -
Medicine May 2021Intracranial yolk sac tumors (YSTs) are rare malignancies with limited treatment options and a dismal prognosis. They are usually managed with surgical resection and... (Review)
Review
RATIONALE
Intracranial yolk sac tumors (YSTs) are rare malignancies with limited treatment options and a dismal prognosis. They are usually managed with surgical resection and chemoradiotherapy.
PATIENT CONCERNS
Here, we report a patient with primary YST in the pineal region who achieved long term survival. Despite undergoing treatment, he experienced several recurrences over a 15-year period.
DIAGNOSIS
Brain magnetic resonance imaging (MRI) demonstrated the presence of space-occupying lesions in the pineal region and the medial tail of the left lateral ventricle. The tumors were excised, and the histological diagnosis suggested an intracranial YST.
INTERVENTIONS
The patient achieved long term survival after combined modality therapy including surgery, stereotactic radiosurgery (SRS)/intensity modulated radiation therapy (IMRT), chemotherapy, and targeted therapy.
OUTCOMES
The disease remained stable. However, the patient gave up treatment and passed away in October 2020, with a total survival of about 15 years.
LESSONS
To the best of our knowledge, this patient with intracranial YST had received a longer survival compared with other published reports. We summarize previously published reports of intracranial YST and discuss the importance of multidisciplinary treatment. SRS may have a role, as a focal boost to residual tumor after resection or in case of recurrence after conventional radiotherapy, in the multimodality management of intracranial YSTs.
Topics: Brain Neoplasms; Chemoradiotherapy, Adjuvant; Endodermal Sinus Tumor; Fatal Outcome; Humans; Lateral Ventricles; Male; Patient Care Team; Pineal Gland; Radiosurgery; Young Adult
PubMed: 34106610
DOI: 10.1097/MD.0000000000025778 -
Frontiers in Public Health 2022Testicular yolk sac tumor (TYST) is a rare malignant germ cell tumor that mainly occurs in young men. Due to the low incidence of yolk sac tumors, there is a lack of... (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
Testicular yolk sac tumor (TYST) is a rare malignant germ cell tumor that mainly occurs in young men. Due to the low incidence of yolk sac tumors, there is a lack of prospective cohort studies with large samples. We aimed to develop a nomogram to predict cancer-specific survival (CSS) in patients with TYST.
MATERIALS AND METHODS
Patient information was downloaded from the Surveillance, Epidemiology and End Results (SEER) database. We enrolled all patients with TYST from 2000 to 2018, and all patients were randomly divided into a training set and a validation set. Univariate and multivariate Cox proportional hazards regression models were used to identify independent risk factors for patients. We constructed a nomogram based on the multivariate Cox regression model to predict 1-, 3-, and 5-year CSS in patients with TYST. We used a series of validation methods to test the accuracy and reliability of the model, including the concordance index (C-index), calibration curve and the area under the receiver operating characteristic curve (AUC).
RESULTS
619 patients with TYST were enrolled in the study. Univariate and multivariate Cox regression analysis showed that age, T stage, M stage and chemotherapy were independent risk factors for CSS. A nomogram was constructed to predict the patient's CSS. The C-index of the training set and the validation set were 0.901 (95%CI: 0.859-0.847) and 0.855 (95%CI: 0.865-0.845), respectively, indicating that the model had excellent discrimination. The AUC showed the same results. The calibration curve also indicated that the model had good accuracy.
CONCLUSIONS
In this study, we constructed the nomogram for the first time to predict the CSS of patients with TYST, which has good accuracy and reliability and can help doctors and patients make clinical decisions.
Topics: Male; Humans; Nomograms; Endodermal Sinus Tumor; SEER Program; Neoplasm Staging; Reproducibility of Results
PubMed: 36324443
DOI: 10.3389/fpubh.2022.1038502