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Frontiers in Oncology 2022Antenatally diagnosed sacrococcygeal teratoma has been associated with risks of perinatal complications and death, especially when the foetus has symptoms of cardiac...
BACKGROUND
Antenatally diagnosed sacrococcygeal teratoma has been associated with risks of perinatal complications and death, especially when the foetus has symptoms of cardiac insufficiency, hydrops or anemia ; however, the method of intervention remains controversial.
CASE
A 25-year-old pregnant woman was found to have a cystic and solid tumor in the fetal sacrococcygeal region at 16 weeks of gestation. As the tumour grew, the mother developed polyhydramnios accompanied with gestational diabetes. Fetal and tumorous hemodynamics were closely monitored by ultrasound. Abnormal cardiac function was detected at 31 weeks' gestation, and we creatively performed pre-emptive delivery through the ex-utero intrapartum treatment with debulking. The teratoma was removed with utero-placental circulation support. The operation proceeded smoothly with favourable prognosis for both mother and newborn.
CONCLUSION
The ex-utero intrapartum treatment may improve the prognosis for fetuses with heart failure when they reach viable gestation.
PubMed: 36408142
DOI: 10.3389/fonc.2022.1035058 -
Indian Journal of Surgical Oncology Dec 2021Primary retroperitoneal teratoma is a tumor originating from each of the three germ cell layers and generally presenting as a large mass in the gonadal and...
Primary retroperitoneal teratoma is a tumor originating from each of the three germ cell layers and generally presenting as a large mass in the gonadal and sacrococcygeal region. It is very rarely seen in adults with scarcely any cases reported in literature (Gatcombe et al. J Surg Oncol 86(2):107-113, 2004). Here, we describe an unusual case of a 48-year-old female, presenting with a large retroperitoneal mass -diagnosed on radiological work-up and was later confirmed as a retroperitoneal teratoma by histological examination Exploratory laparotomy with tumor excision was performed. The patient's recovery was uneventful and is doing well on follow-up.
PubMed: 35035176
DOI: 10.1007/s13193-021-01380-y -
The Application of Clinical Genetics 2020Pediatric germ cell tumors are rare, representing about 3% of childhood malignancies in children less than 15 years of age, presenting in neonates or adolescents with a...
PURPOSE
Pediatric germ cell tumors are rare, representing about 3% of childhood malignancies in children less than 15 years of age, presenting in neonates or adolescents with a greater incidence noted in older adolescents. Aberrations in primordial germ cell proliferation/differentiation can lead to a variety of neoplasms, including teratomas, embryonal carcinoma, choriocarcinoma, and yolk sac tumors.
PATIENTS AND METHODS
Three Finnish families with varying familial germ cell tumors were identified, and whole-genome sequencing was performed using an Illumina sequencing platform. In total, 22 unique subjects across the three families were sequenced. Family 1 proband (female) was affected by malignant ovarian teratoma, Family 2 proband (female) was affected by sacrococcygeal teratoma with yolk sac tumor in the setting of Cornelia de Lange syndrome, and Family 3 proband (male) was affected by malignant testicular teratoma. Rare variants were identified using an autosomal recessive or de novo model of inheritance.
RESULTS
For family 1 proband (female), an autosomal recessive or de novo model of inheritance identified variants of interest in the following genes: , and . Family 2 proband (female) analysis identified gene variants of interest in the following genes: . Family 3 proband (male) analysis identified the following potential genes: , and .
CONCLUSION
Leveraging deep pedigrees and next-generation sequencing, rare germline variants were identified that were enriched in three families from Finland with a history of familial germ cell tumors. The data presented support the importance of germline mutations when analyzing complex cancers with a low somatic mutation landscape.
PubMed: 32636668
DOI: 10.2147/TACG.S245093 -
Prenatal Diagnosis Oct 2021Outcome of fetuses, prenatally diagnosed with sacrococcygeal teratoma (SCT), is still poorly documented. This study assesses the incidence and prenatal predictors of...
AIM OF THE STUDY
Outcome of fetuses, prenatally diagnosed with sacrococcygeal teratoma (SCT), is still poorly documented. This study assesses the incidence and prenatal predictors of outcome in all fetuses prenatally diagnosed with SCT.
METHODS
This is a retrospective study on all fetuses prenatally diagnosed with SCT from 1998 to 2018 in the Netherlands. Poor outcome was defined as terminations of pregnancy (TOP) because of expected unfavorable outcome, intrauterine fetal death, or early neonatal death. Potential risk factors for poor outcome were analyzed.
MAIN RESULTS
Eighty-four fetuses were included. Sixteen (19.0%) TOPs were excluded from statistical analysis. Eleven of the remaining 68 fetuses had poor outcome. Overall mortality was 32.1%, with a mortality excluding TOPs of 13.1%. Thirteen fetal interventions were performed in 11 (13.1%) fetuses. Potential risk factors for poor outcome were the presence of fetal hydrops (OR: 21.0, CI: 2.6-275.1, p = 0.012) and cardiomegaly (OR: 10.3, CI: 1.9-55.8, p = 0.011).
CONCLUSIONS
The overall mortality of fetuses prenatally diagnosed with SCTs including tTOP was 32.1%. This high mortality rate was mainly due to termination of pregnancy. Mortality excluding TOP was 13.1%. Potential risk factors for poor outcome were fetal hydrops and cardiomegaly.
Topics: Adult; Female; Humans; Infant, Newborn; Netherlands; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Retrospective Studies; Sacrococcygeal Region; Teratoma
PubMed: 34327722
DOI: 10.1002/pd.6026 -
Acta Obstetricia Et Gynecologica... Nov 2020Fetal tumors are rare and usually followed by poor outcome. We describe our single-center experience with fetal tumors evaluated by ultrasound and magnetic resonance...
INTRODUCTION
Fetal tumors are rare and usually followed by poor outcome. We describe our single-center experience with fetal tumors evaluated by ultrasound and magnetic resonance imaging (MRI). Our aims were to evaluate mortality and morbidity including long-term outcome and to determine which ultrasound and MRI characteristics were helpful for pre- and perinatal management.
MATERIAL AND METHODS
We conducted a retrospective analysis on prenatally diagnosed tumors between 1998 and 2018. Poor outcome included fetal or neonatal death and survival with serious illness. MRI addressed tumor morphology (sacrococcygeal teratomas), compromise of surrounding structures (head and neck tumors) and early depiction of brain alterations specific to tuberous sclerosis (rhabdomyomas).
RESULTS
Of 68 pregnancies, 15 (22%) were terminated and eight children (8/53, 15%) died pre- or postnatally. Of the 45 survivors (45/68, 66%), 24 (24/45, 53%) were healthy, eight (8/45, 18%) had a minor illness and 13 (13/45, 29%) a serious illness. Diffusion- and T1-weighted MRI reliably predicted tumor morphology in teratomas. To detect head and neck tumors critical to airway obstruction, MRI was superior to ultrasound in delivery planning. Rhabdomyomas were frequently associated with tuberous sclerosis, regardless of their number or size in ultrasound; MRI could depict specific brain alterations from the early third trimester onwards. For several rare tumors, MRI provided critical differential diagnoses that could not be clearly displayed in ultrasound.
CONCLUSIONS
The rate of survivors with serious long-term illness among fetuses with prenatal diagnosis of a tumor was high. MRI is specifically helpful for risk stratification in fetal teratomas and delivery planning in head and neck tumors.
Topics: Female; Fetal Diseases; Follow-Up Studies; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Neoplasms; Perinatal Care; Pregnancy; Retrospective Studies; Risk Assessment; Treatment Outcome; Ultrasonography, Prenatal
PubMed: 32525215
DOI: 10.1111/aogs.13933 -
Sudanese Journal of Paediatrics 2021Congenital anomalies of the scrotum are thought to be caused by an abnormal migration of the labioscrotal swelling during the embryological process. We report the case...
Congenital anomalies of the scrotum are thought to be caused by an abnormal migration of the labioscrotal swelling during the embryological process. We report the case of an infant in whom suspected penoscrotal pseudoduplication was apparent at delivery. Imaging using ultrasound scan and magnetic resonance imaging allowed anatomical delineation of the abnormality and the appropriate surgical intervention to be determined. Full surgical correction was done at 4 weeks of age with good outcome. We discuss the differential diagnosis and the management of congenital scrotal abnormalities.
PubMed: 35221438
DOI: 10.24911/SJP.106-1597356690 -
Radiology Case Reports Oct 2020Teratomas commonly occur within ovaries, sacrococcygeal regions, testis, mediastinum, and intracranial regions. One of the rare sites for this tumor includes kidneys....
Teratomas commonly occur within ovaries, sacrococcygeal regions, testis, mediastinum, and intracranial regions. One of the rare sites for this tumor includes kidneys. Renal anomalies such as horseshoe kidneys with teratoma are one of the extremely rare presentations. The authors present a case of a large teratoma within a horseshoe kidney in an 8-year-old girl whose main clinical manifestation was abdominal distension. Intrarenal teratoma within horseshoe kidneys is a rare and interesting clinical entity that would require an appropriate therapeutic approach to salvage the kidneys and remove the mass.
PubMed: 32774572
DOI: 10.1016/j.radcr.2020.07.013 -
Brain Tumor Research and Treatment Oct 2020Teratomas are benign germ cell tumors that usually found out of their anatomical origin. Teratomas usually are found in sacrococcygeal area, gonads, mediastinum,...
Teratomas are benign germ cell tumors that usually found out of their anatomical origin. Teratomas usually are found in sacrococcygeal area, gonads, mediastinum, cervicofacial region and intracranial fossa. Spinal teratomas are rare. In this study we describe a case of conus medullaris teratoma which was diagnosed based on imaging studies. The patient underwent surgery. We did bilateral laminectomy. The mass lesion had an obvious and rigid attachment to the conus medullaris. The wall of the lesion was resected as much as possible, but total resection of the lesion's wall could not be done due to changes in neural monitoring. Previous related studies are reviewed.
PubMed: 32648386
DOI: 10.14791/btrt.2020.8.e14 -
Journal of Pediatric Surgery Sep 2020The incidence of children developing recurrent sacrococcygeal teratoma (SCT) is 2-35%. Serum alpha-fetoprotein (AFP) is often used as a tumor marker for (malignant)...
BACKGROUND
The incidence of children developing recurrent sacrococcygeal teratoma (SCT) is 2-35%. Serum alpha-fetoprotein (AFP) is often used as a tumor marker for (malignant) recurrences of SCT and could potentially be used during routine follow-up after SCT resection. However, the diagnostic accuracy of serum AFP levels during follow-up has not been well established. Therefore, we aimed to systematically review the diagnostic accuracy of serum AFP levels in recurrent SCT.
METHODS
We queried Search Premier, COCHRANE Library, EMCARE, EMBASE, PubMed, ScienceDirect and Web of Science databases to identify studies regarding patients with SCT with follow-up using serum AFP levels postoperative. We estimated sensitivity and specificity of serum AFP levels.
RESULTS
Fifteen studies (613 patients, 121 recurrences) were included and these mainly described serum AFP levels in patients with recurrent SCT (n = 111); 83 (75%) patients with recurrent SCT had elevated serum AFP levels. A subgroup analysis of articles that measured serum AFP levels in all patients (n = 6, 136 patients, 14 recurrences) showed a sensitivity and specificity of 79% and 95%, respectively. The sensitivity of AFP levels to detect malignant recurrence was 96%.
CONCLUSION
Diagnostic accuracy of serum AFP levels to detect recurrent SCT seems promising, though sensitivity could be overestimated since serum AFP levels are mainly described in patients with elevated AFP levels or at recurrent SCT. Furthermore, serum AFP levels could be helpful to detect malignant recurrences.
TYPE OF STUDY
Systematic review of level 2-4 studies.
LEVEL OF EVIDENCE
Level 2-4 (mostly level 2).
Topics: Biomarkers, Tumor; Child; Humans; Neoplasm Recurrence, Local; Pelvic Neoplasms; Sacrococcygeal Region; Sensitivity and Specificity; Spinal Neoplasms; Teratoma; alpha-Fetoproteins
PubMed: 32376010
DOI: 10.1016/j.jpedsurg.2020.03.014 -
International Journal of Surgery Case... Jan 2021Teratomas arise from primordial germ cells which arrest during its migration from the hindgut allantois the gonads during the first weeks of gestational life, they may...
BACKGROUND
Teratomas arise from primordial germ cells which arrest during its migration from the hindgut allantois the gonads during the first weeks of gestational life, they may occur in both gonadal and extra-gonadal locations. They occur in 1/40,000 live births. The most common anatomical locations are the sacro-coccygeal region and the ovary, neck teratomas constituted about 1.5%. Malignant transformation has been reported.
CASE PRESENTATION
A 2-year-old boy presented with a gradually enlarging mass in the left side of the neck causing stridor and difficulties in respiration especially during sleep, the parents noticed difficulties during swallowing. The mass was misdiagnosed as cystic hygroma and the patient underwent 2 sessions of sclerotherapy with no improvement. Clinical examination showed a large mass in the left side of the neck which was multilobulated causing tracheal shift to the opposite side. There were no signs of inflammations over the mass. CT-scan showed evidence of enhancing multi-cystic lesion with multiple flecks of calcification. Complete surgical resection was done successfully and the histopathological study of the mass showed mature elements of ectodermal, mesodermal, and ectodermal germinal layers which was consistent with mature cystic teratoma. The follow up showed no postoperative complications.
CONCLUSION
Mature cystic teratoma of the neck is very rare and may be difficult to be differentiated both clinically and radiologically from other neck masses. The accurate diagnosis must be made before any kind of treatment is started. Complete surgical resection is the main management option and required to decrease the recurrence.
PubMed: 33388510
DOI: 10.1016/j.ijscr.2020.12.062