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Diagnostic Pathology Jul 2019Mesonephric adenocarcinoma (MNAC) is a rare tumor of the female genital tract, which originates from mesonephric duct remnants. Its diagnosis is pathologically...
BACKGROUND
Mesonephric adenocarcinoma (MNAC) is a rare tumor of the female genital tract, which originates from mesonephric duct remnants. Its diagnosis is pathologically challenging, because MNAC may exhibit a mixture of morphological patterns that complicates the differential diagnosis.
CASE PRESENTATION
The patient in this case was a 48-year-old woman with a polypoid mass protruding into the endocervical canal. The patient underwent a total hysterectomy outside the institution. During biopsy, the mass showed a cerebroid aspect. Histological study revealed a tumor with a predominantly tubular and ductal growth pattern. The immunoprofile showed negative staining for calretinin, carcinoembryonic antigen (CEAm), estrogen receptors (ER), and progesterone receptors (PR), and positive staining for CD10, p16, and PAX2. The Ki-67 score was 46%. Using a next-generation sequencing assay, we documented genomic alterations in KRAS and CTNNB1, low tumor mutation burden (TMB), and an absence of microsatellite instability. In addition, gain of the long arm of chromosome 1 (1q) was also documented using chomogenic in situ hybridization (CISH). Three years later, the patient presented pulmonary nodules in the lingula and left basal lobe that were resected by thoracotomy. The histopathologic study of the pulmonary nodules confirmed the presence of metastases.
CONCLUSION
Carcinomas of mesonephric origin are among the rarest subtypes of cervical tumors. We report the first case of mesonephric adenocarcinoma of the cervix with lung metastases showing a CTNNB1 gene mutation.
Topics: Adenocarcinoma; Cervix Uteri; Female; High-Throughput Nucleotide Sequencing; Humans; Lung Neoplasms; Mesonephroma; Middle Aged; Mutation; Sequence Analysis, DNA; Uterine Cervical Neoplasms; beta Catenin
PubMed: 31266530
DOI: 10.1186/s13000-019-0847-8 -
Journal of Occupational and... Jun 2019To assess prenatal air toxics exposure and risk for childhood germ cell tumors (GCTs) by histological subtype (yolk sac tumor and teratoma).
OBJECTIVE
To assess prenatal air toxics exposure and risk for childhood germ cell tumors (GCTs) by histological subtype (yolk sac tumor and teratoma).
METHODS
In this case-control study, GCT cases less than 6 years (n = 243) identified from California Cancer Registry records were matched by birth year to cancer-free population controls (n = 147,100), 1984 to 2013. Routinely monitored air toxic exposures were linked to subjects' birth address. Logistic regression estimated GCT risks per interquartile range increase in exposure.
RESULTS
Prenatal exposure to various highly-correlated, traffic-related air toxics during the second trimester increased GCT risk, particularly 1,3-butadiene (odds ratio [OR] = 1.51; 95% confidence interval [CI] = 1.01, 2.26) and meta/para-xylene (OR = 1.56; 95% CI = 1.10, 2.21). Analyses by subtype indicated elevated ORs for yolk sac tumors but not teratomas.
CONCLUSION
Our estimated ORs are consistent with positive associations between some prenatal traffic-related air toxics and GCT risk, notably yolk sac tumors.
Topics: Air Pollutants; California; Child, Preschool; Endodermal Sinus Tumor; Environmental Exposure; Environmental Monitoring; Female; Humans; Odds Ratio; Pregnancy; Prenatal Exposure Delayed Effects; Registries; Teratoma; Vehicle Emissions
PubMed: 31045852
DOI: 10.1097/JOM.0000000000001609 -
Medicine Apr 2019Yolk sac tumors (YSTs) are malignant germ cell tumors that secrete alpha-fetoprotein (AFP). These tumors commonly develop in infants, young children, and young women and... (Review)
Review
RATIONALE
Yolk sac tumors (YSTs) are malignant germ cell tumors that secrete alpha-fetoprotein (AFP). These tumors commonly develop in infants, young children, and young women and often originate in the gonads. Primary endometrial YST is a very rare malignancy, and a primary endometrial YST in the absence of abnormal AFP levels is even rarer.
PATIENT CONCERNS
A 38-year-old woman presented with the chief complaint of prolonged menstruation and increased menstrual bleeding with a duration of more than 2 months.
DIAGNOSES
Postoperative pathology confirmed a diagnosis of endometrial YST with metastasis to the greater omentum (stage IVB).
INTERVENTIONS
The patient underwent a laparoscopic extrafascial hysterectomy, bilateral adnexectomy, pelvic lymphadenectomy, abdominal para-aortic lymphadenectomy, omentectomy, and appendectomy. Additionally, she received 6 courses of multidrug chemotherapy (bleomycin, etoposide, and cisplatin; BEP).
OUTCOMES
After completing chemotherapy, the patient underwent regular follow-up examinations. No recurrence was noted during a 24-month follow-up period.
LESSONS
YST is mainly treated using surgery and chemotherapy, which may spare endocrine functions in young patients. The BEP regimen appears to be an effective postoperative chemotherapy regimen for patients with endometrial YST.
Topics: Adult; Diagnosis, Differential; Endodermal Sinus Tumor; Endometrial Neoplasms; Female; Humans; Omentum; Peritoneal Neoplasms
PubMed: 30985686
DOI: 10.1097/MD.0000000000015144 -
European Journal of Cancer (Oxford,... May 2019Adult guidelines recommend BEP (bleomycin, etoposide, cisplatin) for all ovarian germ cell tumours, causing debilitating toxicities in young patients who will survive...
BACKGROUND
Adult guidelines recommend BEP (bleomycin, etoposide, cisplatin) for all ovarian germ cell tumours, causing debilitating toxicities in young patients who will survive long term. Paediatricians successfully reduce toxicities by using lower bleomycin doses and substituting carboplatin for cisplatin, while testicular and paediatric immature teratomas (ITs) are safely managed with surgery alone.
AIM
The aim was to determine whether reduced-toxicity treatment could rationally be extended to patients older than 18 years.
METHODS
Multicentre cohort study was carried out in four large UK cancer centres over 12 years.
RESULTS
One hundred thirty-eight patients were enrolled. Overall survival was 93%, and event-free survival (EFS) was 72%. Neoadjuvant/adjuvant chemotherapy (82% BEP) caused 27 potentially chronic toxicities, and one patient subsequently died from acute lymphoblastic leukaemia. There was no difference in histology, stage or grade in patients ≤/>18 years, and EFS was not different in these age groups (≤18:28% and >18:28%; log-rank P = 0.96). Histological subtype powerfully predicted EFS (log-rank P = 4.9 × 10). Neoadjuvant/adjuvant chemotherapy reduced future relapse/progression in dysgerminoma (n = 37, chemo:0% vs. no chemo:20%), yolk sac tumour (n = 23, 26.3% vs.75%) and mixed germ cell tumour (n = 32, 40%vs.70%) but not in IT (n = 42, 33% vs.15%). Additionally, we observed no radiological responses to chemotherapy in ITs, pathological IT grade did not predict EFS (univariate hazard ratio 0.82, 95% confidence interval: 0.57-1.19, P = 0.94) and there were no deaths in this subtype.
CONCLUSION
Survival was excellent but chemotherapy toxicities were severe, implying significant overtreatment. Our data support the extension of reduced-toxicity, paediatric regimens to adults. Our practice-changing findings that IT was chemotherapy resistant and pathological grade uninformative strongly endorse exclusive surgical management of ovarian ITs at all ages.
Topics: Adolescent; Adult; Aged; Antineoplastic Combined Chemotherapy Protocols; Bleomycin; Chemotherapy, Adjuvant; Child; Cisplatin; Cohort Studies; Dysgerminoma; Endodermal Sinus Tumor; Etoposide; Female; Gynecologic Surgical Procedures; Humans; Kaplan-Meier Estimate; Middle Aged; Neoadjuvant Therapy; Neoplasm Grading; Neoplasms, Germ Cell and Embryonal; Neoplasms, Second Primary; Ovarian Neoplasms; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Progression-Free Survival; Proportional Hazards Models; Retrospective Studies; Teratoma; Treatment Outcome; Young Adult
PubMed: 30954883
DOI: 10.1016/j.ejca.2019.03.001 -
BMJ Case Reports Mar 2019Carcinosarcoma of the uterine cervix is a very rare tumour that has been described in less than 70 cases in the literature. It is less common compared with...
Carcinosarcoma of the uterine cervix is a very rare tumour that has been described in less than 70 cases in the literature. It is less common compared with carcinosarcoma of the uterine corpus and it can have two origins: the Müllerian ducts and the mesonephric duct remnants. The association of mesonephric carcinoma with a sarcomatous component was reported in only 11 cases, including the following. We describe a case of a 64-year-old woman, presenting with vaginal bleeding and a cervical lesion reported as a sarcoma of endometrial stroma in the first biopsy. After exclusion of distant disease, she was submitted to radical surgery and the final histopathological examination showed a carcinosarcoma of the cervix with mesonephric origin.
Topics: Bone Neoplasms; Carcinosarcoma; Cervix Uteri; Chemotherapy, Adjuvant; Fatal Outcome; Female; Humans; Hysterectomy; Lymph Node Excision; Mesonephroma; Middle Aged; Ovariectomy; Salpingectomy; Uterine Cervical Neoplasms; Uterine Hemorrhage
PubMed: 30936330
DOI: 10.1136/bcr-2018-227050 -
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 -
Asian Journal of Andrology 2019
Topics: Endodermal Sinus Tumor; Humans; Infant; Magnetic Resonance Imaging; Male; Orchiectomy; Teratoma; Testicular Neoplasms; Testis; Treatment Outcome
PubMed: 30618414
DOI: 10.4103/aja.aja_104_18 -
Sultan Qaboos University Medical Journal Aug 2018Primary gastric yolk tumours are extremely rare. We report a 52-year-old male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2017 after having...
Primary gastric yolk tumours are extremely rare. We report a 52-year-old male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2017 after having undergone a gastrectomy abroad due to a suspected poorly-differentiated adenocarcinoma. The patient subsequently returned to Oman to receive chemotherapy. However, while undergoing chemotherapy, an abdominal computed tomography scan revealed a lobulated mesenteric mass. Microscopic examination of the resected lesion confirmed a diagnosis of a yolk sac tumour. The mass was diffusely positive for α-fetoprotein (AFP) and a gastric carcinoma stain was negative. Gastrectomy slides from the patient's previous surgery were examined retrospectively. The morphology was typical for a yolk sac tumour and was negative for epithelial markers. An AFP stain showed diffuse immunoreactivity. Thus, the patient was deemed to have had a primary gastric yolk sac tumour which had later metastasised to the mesocolon. Germ cell tumour protocols were initiated and the patient responded well to treatment.
Topics: Biomarkers, Tumor; Endodermal Sinus Tumor; Gastrectomy; Humans; Male; Middle Aged; Oman; Stomach Neoplasms; Tomography, X-Ray Computed
PubMed: 30607283
DOI: 10.18295/squmj.2018.18.03.020 -
Brain Pathology (Zurich, Switzerland) Jan 2019
Topics: Brain Neoplasms; Cerebellum; Endodermal Sinus Tumor; Humans; Infant; Magnetic Resonance Imaging; Male
PubMed: 30600595
DOI: 10.1111/bpa.12683 -
British Journal of Cancer Oct 2018Abnormal DNA methylation may be important in germ cell tumour (GCT) aetiology, as germ cells undergo complete epigenetic reprogramming during development. GCTs show... (Comparative Study)
Comparative Study
BACKGROUND
Abnormal DNA methylation may be important in germ cell tumour (GCT) aetiology, as germ cells undergo complete epigenetic reprogramming during development. GCTs show differences in global and promoter methylation patterns by histologic subtype. We conducted an epigenome-wide study to identify methylation differences by GCT histology.
METHODS
Using the Illumina HumanMethylation450K array we measured methylation in 154 paediatric GCTs (21 germinomas/seminomas/dysgerminoma, 70 yolk sac tumours [YST], 9 teratomas, and 54 mixed histology tumours). We identified differentially methylated regions (DMRs) between GCT histologies by comparing methylation beta values.
RESULTS
We identified 8,481 DMRs (FWER < 0.05). Unsupervised hierarchical clustering of individual probes within DMRs resulted in four high level clusters closely corresponding to tumour histology. Clusters corresponding to age, location, sex and FFPE status were not observed within these DMRs. Germinomas displayed lower levels of methylation across the DMRs relative to the other histologic subtypes. Pathway analysis on the top 10% of genes with differential methylation in germinomas/seminomas/dysgerminoma compared to YST suggested angiogenesis and immune cell-related pathways displayed decreased methylation in germinomas/seminomas/dysgerminoma relative to YST.
CONCLUSIONS
Paediatric GCT histologies have differential methylation patterns. The genes that are differentially methylated may provide insights into GCT aetiology including the timing of GCT initiation.
Topics: Adolescent; Child; Child, Preschool; DNA Methylation; Deep Learning; Dysgerminoma; Endodermal Sinus Tumor; Epigenesis, Genetic; Epigenomics; Female; Germinoma; Humans; Infant; Infant, Newborn; Male; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Principal Component Analysis; Promoter Regions, Genetic; Seminoma; Testicular Neoplasms
PubMed: 30287918
DOI: 10.1038/s41416-018-0277-5