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Hepatoblastoma. (a) Transverse US image obtained at the level of the fetal liver shows a large, well-demarcated solid mass (arrow). Note the areas of alternating echogenicity, giving the mass a "spoked-wheel" appearance. (b) Autopsy photograph of the liver shows the well-defined mass with prominent fibrous bands extending to the pseudocapsule.
Source publication
Fetal tumors are a diverse group of neoplasms, which are unique in their histologic characteristics, anatomic distribution, and pathophysiology. The biologic behavior of tumors in the fetus may differ dramatically compared with that of the same tumor detected later in life. Teratomas are the dominant histologic type and constitute the majority of b...
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We report a case of an immature teratoma of the third ventricle, which was preoperatively thought to be a choroid plexus papilloma. The diagnosis was made by biopsy since the radiographic (CT, MRI), angiographic and scintigraphic findings ([99mTc]pertechnetate, 99mTc-DTPA, 99mTc-HMPAO brain SPECT) were nonspecific. Disruption of the blood-brain bar...
Forty-five pathologically proved cases of neonatal brain tumors (diagnosed in neonates within 60 days after birth) were reviewed from the neuroradiology archives dating back to 1964. CT was performed in 24 cases, MR in five, sonography in six, and angiography in seven. Two-thirds of the lesions were supratentorial. The most common histology was a t...
Citations
... El riesgo de malignizar es pequeño, pero existe 6 . Si no son tratados, los teratomas cervicales y orofaríngeos presentan una mortalidad cercana al 100% [7][8][9] . En este artículo reportamos un caso de teratoma cervical y otro de teratoma orofaríngeo, junto con una revisión de la literatura respecto del rol que juega el estudio imagenológico en el diagnóstico y tratamiento. ...
... Otras complicaciones asociadas incluyen hiperextensión cervical, distocia fetal, parto prematuro, traqueomalacia, trastornos de la deglución y muerte fetal. Aquellos de gran tamaño y rápido crecimiento pueden tener extensión mediastínica, compresión vascular, insuficiencia cardiaca por alteración del retorno venoso o cortocircuitos arterio-venosos, e hidrops fetal 3,5,9,12,14 . La presencia de polihidramnios, hidrops, un tamaño tumoral mayor a 5 cm y malformaciones asociadas como hidrocefalia conllevan un mal pronóstico fetal 3 . ...
... En la ecografía 2D se observa un tumor lobulado heterogéneo sólido-quístico, generalmente grande, que se proyecta desde la estructura comprometida 10 . La presencia de calcificaciones en su interior es prácticamente diagnóstica de teratoma, pero estas están presentes en alrededor del 50% de los casos y pueden no ser visibles a la ecografía 9 . El Doppler color ofrece una evaluación del flujo sanguíneo entre el tumor y la circulación fetal, y puede mostrar abundante vascularización periférica y/o interna, así como la presencia de cortocircuitos arterio-venosos que podrían desencadenar una insuficiencia cardiaca de alto volumen 3,10 . ...
... Neuroblastomas originate from cells of the primordial neural crest. It is usually detected in pregnancy during the third trimester [16,17] In addition, soft tissue tumors are mainly vascular and muscular tumors, with an average 8.1-12 % frequency of congenital tumors [18]. On the other hand, low-incidence congenital tumors such as leukemia are considered about 5.9%-12.35 ...
... On the other hand, low-incidence congenital tumors such as leukemia are considered about 5.9%-12.35 % of congenital tumors; CNS tumors are rare congenital tumors, about 5.9-10 %; renal tumors are about 5.-7.1 % of congenital tumors; hepatic tumors are about 5 % of congenital tumors; and cardiopulmonary tumors are nearly <3 % of congenital tumors [3,16,19,20]. ...
... In these cases, early ultrasound studies and fetal MRIs have shown the presence of fluid filled clefts connecting the lateral ventricle and subarachnoid spaces (Fernández-Mayoralas et al. 2010;Hung et al. 2008). However, Type 1 schizencephaly with small, fused defects have not been identified antenatally and it is uncertain whether it would even be possible to make a certain diagnosis with CT or MRI until after delivery (Pilu, Malinger, and Buyukkurt 2013;Hung et al. 2008;Woodward et al. 2005;Schlembach et al. 1999). ...
... However, the characteristic imaging finding for Type 2 defects, a gray matter-lined cleft extending from the ventricular surface to the subarachnoid space, only evolves later in the gestation and is identified most commonly after 28 weeks (Barkovich and Kjos 1992). While it is assusmed that type 1 defects should form around this gestational age, the defect at this stage is so small and difficult to visualize that there are no case reports of this diagnosed before delivery, and no consensus whether increased US, CT, or MRI screening would be able to definitively identify such slight findings until after delivery (Pilu, Malinger, and Buyukkurt 2013;Hung et al. 2008;Woodward et al. 2005;Schlembach et al. 1999). ...
Background
Fetal brain anomalies have a wide differential diagnosis including: (1) congenital genetic and vascular disorders; (2) acquired causes such as infection and hypoxic-ischemic injury; and rarely (3) neoplasm. Fetal brain anomalies are also infrequently seen. Consequently, there is limited literature describing methods of distinguishing these conditions, barring the presence of the most characteristic findings on imaging.
Objective
The purpose of this report is to describe the critical parts of our workup that helped us distinguish a fetal brain migrational disorder from a neoplasm.
Study Design
Case report of a single patient seen at Tripler Army Medical Center and Children’s Hospital of Los Angeles
Case Summary (Results)
24-year-old gravida 1 with a dichorionic-diamniotic twin pregnancy was found to have an intracranial abnormality in Twin A on a transabdominal ultrasound performed at 16w1d gestation. Serial prenatal ultrasounds and complementary fetal magnetic resonance imaging (MRI) studies were performed to distinguish a possible fetal brain tumor from a migrational disorder. Fetal MRIs performed at 19w1d and 23w0d demonstrated a mass-like region increasing in size which was interpreted as highly suggestive of an enlarging fetal brain tumor. Ultimately, additional radiologic findings of fluid filled clefts and polymicrogyria visualized at 32 weeks led to a definitive diagnosis of a fetal migrational disorder.
Conclusion
Features used to diagnose fetal brain anomalies are often nonspecific and develop throughout a gestation. Most of these diagnoses require multiple imaging studies carried out over time to identify key features, and characteristic key features often do not present until very late in a gestation. The differential diagnosis of a dysplastic appearing mass-like region growing in size throughout a pregnancy should include fetal migrational disorders.
... Collaborative multi-institutional research would foster a comprehensive understanding of the origins, biological behaviour, optimal diagnostic approaches and ideal treatment strategies for these rare ventricular masses during foetal life. CBTs have an approximate occurrence rate of 0.34 per 1,000,000 live births, representing only 10% of all antenatal tumours [8], typically diagnosed incidentally during the second or third trimester [9]. Among CBTs, teratomas are the most prevalent, accounting for at least half of the cases [10]. ...
Purpose
This article is the first in a two-part series designed to provide a comprehensive overview of the range of supratentorial intraventricular masses observed in children. Our primary objective is to discuss the diverse types of intraventricular masses that originate not only from cells within the choroid plexus but also from other sources.
Methods
In this article, we review relevant epidemiological data, the current genetics/molecular classification as outlined in the fifth edition of the World Health Organization’s Classification of tumours of the Central Nervous System and noteworthy imaging findings. We conduct an exhaustive analysis of primary choroid plexus tumours as well as other conditions such as choroid plexus hyperplasia, choroid plexus cyst, choroid plexus xanthogranuloma, atypical teratoid rhabdoid tumour, meningioma, arteriovenous malformation and metastasis.
Results
We comprehensively evaluated each supratentorial intraventricular mass, providing an in-depth analysis of their unique clinical and histological characteristics. The fifth edition of the World Health Organization Classification of Tumours of the Central Nervous System introduces major modifications. These important changes could potentially have a profound impact on the management strategies and subsequent outcomes of these tumours.
Conclusion
Intraventricular masses in children can arise from various sources. Surgical intervention is key for certain supratentorial intraventricular masses in paediatric patients, with preoperative neuroimaging essential to decide the best treatment approach, surgical or otherwise, as some cases may not require surgery.
... CNS tumours are the second most frequent neoplasms in childhood after leukaemia, first among solid tumours. They account for 0.5-1.9% of all malignant tumours in children [1,2], but the prevalence increases if we consider only the infant stage (< 5 years) [3]. ...
... The first sign of a congenital tumour with prenatal onset is usually polyhydramnios, more commonly in the second and third trimester secondary to both hypothalamic dysfunction and high cardiac output [2,18]. ...
Central nervous system (CNS) tumours in neonates are relatively rare and present differently when compared with those occurring later in childhood in terms of aetiology, clinical features, location, histology and prognosis. The clinical presentation is extremely variable. Even if the most frequent clinical sign is a macrocephaly, there are many other non-specific symptoms associated. The prognosis is usually poor with overall survival of less than 30%. Surgery continues to be the primary treatment for neonatal CNS tumours, aiming for a gross total resection, directly correlated with prognosis and the overall outcome. The chemotherapy is the only adjuvant therapy whereas the radiotherapy is avoided under three years of age because of the severe sequelae. Hence the importance of molecular characterization of these neoplasms in order to improve the accuracy of the diagnosis and identify new therapeutic targets. The aim of this review is to describe the main characteristics of these tumours and the recent advances in their treatment in order to recognize these pathologies in the prenatal period and create a multidisciplinary team providing the best possible treatment while minimising the risk of long-term complications. Neonatologists play a key role in the early detection, diagnostic evaluation, management and supportive care of these neonates.
Conclusion: The aim of this review is to describe the main characteristics of these tumours and the recent advances in their treatment in order to ensure the essential knowledge that will help the neonatologist identify them and create a multidisciplinary team providing the best possible treatment while minimising the risk of long-term complications. What is Known:
• Neonatal CNS tumours are relatively rare and their early identification is important to identify the best diagnostic-therapeutic management.
• Surgery is the main treatment of neonatal CNS tumours. The extent of surgical resection directly correlates with prognosis and outcome.
What is New:
• Predisposing conditions such as Cancer Predisposition Syndromes must be considered.
• Targeted drugs and other therapeutic strategies can be identified through molecular characterization
... Tumors are considered prenatal if detected in utero or in the first 3 months after birth [1,2]. Congenital malignant tumors constitute approximately 2% of pediatric malignancies [3]. ...
... Brain and head and neck teratomas were the second most numerous group of teratomas in the analyzed dataset, which complied with other authors' statistics on the occurrence of these tumors [1,4]. In five fetuses, the tumor was located in the brain, causing significant mass effect. ...
... In 20% of cases the diagnosis is established in the first 3 months of life or prenatally [24]. In the literature, it is described as solid or cystic [1]. Neuroblastoma is more commonly cystic in fetuses and solid in neonates. ...
Simple Summary
Congenital tumors are an uncommon finding on prenatal ultrasound and in the first 3 months of life, and they are (almost) always subjected to magnetic resonance imaging. Although they are usually easy to recognize as pathological masses, differential diagnosis is not easy and includes both benign and malignant conditions. Teratomas are the most frequent group of inborn neoplasms, followed by cardiac rhabdomyomas. In this paper, the authors show a series of cases in order to provide tips to identify the more common masses and to keep in mind that the most unusual tumor may occur as congenital and that no diagnosis should be rejected a priori. The article is intended to raise awareness and draw attention to this little-known group of cancers and facilitate the diagnostic process.
Abstract
Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first 3 months of life were retrospectively reviewed. They were performed with the use of 1.5 T scanners. Seventy-six tumors were diagnosed based on fetal MRI between 20 and 37 gestational weeks, and 27 were found after birth, from 1 day of age to 3 months of life. Teratomas were the most common tumors in our dataset, mainly in the sacrococcygeal region (SCT), followed by cardiac rhabdomyomas and subependymal giant cell astrocytomas (SEGA) associated with TSC, and neuroblastomas. The group of less common tumors consisted of infantile fibrosarcomas, malignant rhabdoid tumors, mesoblastic nephromas and Wilms tumor, craniopharyngiomas, brain stem gliomas, desmoplastic infantile astrocytoma, choroid plexus carcinoma, glioblastoma, hemangiopericytoma, rhabdomyosarcoma, melanoma, mesenchymal hamartomas of the chest wall and the liver, and juvenile xanthogranuloma, with special consideration of blue rubber bleb nevus syndrome. MRI plays a significant role in further and better characterization of congenital tumors, leading to a correct diagnosis in many cases, which is crucial for pregnancy and neonatal management and psychological preparation of the parents. No diagnosis is impossible and can be absolutely excluded.
... Unfortunately, fetal intracranial tumors often have a poor prognosis and can cause complications such as intracranial bleeding or dystocia during delivery [49]. The most common life-threatening fetal masses of the head and neck include vascular lesions, such as lymphangioma and hemangioma; these two types of lesions are often considered congenital malformations rather than true neoplasms [50]. ...
Congenital malformations are defined as single or multiple defects of the morphogenesis of organs or body parts, identifiable during intrauterine life or at birth. With recent advances in prenatal detection of congenital malformations, many of these disorders can be identified early on a routine fetal ultrasound. The aim of the present systematic review is to systematize the current knowledge about the mode of delivery in pregnancies complicated by fetal anomalies. The databases Medline and Ebsco were searched from 2002 to 2022. The inclusion criteria were prenatally diagnosed fetal malformation, singleton pregnancy, and known delivery mode. After the first round of research, 546 studies were found. For further analysis, studies with full text available concerning human single pregnancy with known neonatal outcomes were considered. Publications were divided into six groups: congenital heart defects, neural tube defects, gastroschisis, fetal tumors, microcephaly, and lung and thorax malformations. Eighteen articles with a descripted delivery mode and neonatal outcome were chosen for further analysis. In most pregnancies complicated by the presence of fetal anomalies, spontaneous vaginal delivery should be a primary option, as it is associated with lower maternal morbidity and mortality. Cesarean delivery is generally indicated if a fetal anomaly is associated with the risk of dystocia, bleeding, or disruption of a protective sac; examples of such anomalies include giant omphaloceles, severe hydrocephalus, and large myelomeningocele and teratomas. Fetal anatomy ultrasound should be carried out early, leaving enough time to familiarize parents with all available options, including pregnancy termination, if an anomaly is detected.
... Fetal brain tumors (FBT) are very rare. They occur in 0.34/1,000,000 live births and account for 10% of all antenatal tumors [1][2][3][4][5]. About 10% of congenital brain tumors are diagnosed during fetal life [4,6]. ...
... About 10% of congenital brain tumors are diagnosed during fetal life [4,6]. In comparison to tumors appearing in the pediatric population, they differ in location, histological type, clinical behavior and prognosis [1,4,5,7,8]. Whereas pediatric tumors are mostly infratentorial, FBTs originate typically in the supratentorial region [1,3,9]. ...
... In comparison to tumors appearing in the pediatric population, they differ in location, histological type, clinical behavior and prognosis [1,4,5,7,8]. Whereas pediatric tumors are mostly infratentorial, FBTs originate typically in the supratentorial region [1,3,9]. Teratomas are the most frequently encountered intracranial tumors in the prenatal period, occurring in about half of the reported cases, in contrast to pilocytic astrocytomas, malignant gliomas and medulloblastoma which are typically found in the pediatric age group [1,3,[9][10][11][12]. ...
Fetal brain tumors are a rare entity with an overall guarded prognosis. About 10% of congenital brain tumors are diagnosed during fetal life. They differ from the postnatally encountered pediatric brain tumors with respect to location and tumor type. Fetal brain tumors can be benign or malignant and infiltrate or displace adjacent brain structures. Due to their high mitotic rate, they can show rapid growth. Outcome depends on age of diagnosis, size, and histological tumor type. Findings like polyhydramnios and macrocephaly encountered on routine ultrasound are frequently associated. Detailed prenatal anomaly scan and subsequent fetal magnetic resonance imaging (MRI) may identify the brain tumor and its severity. Both maternal and fetal prognosis should be included in prenatal counselling and decision making.
... In general, congenital brain tumors are intracranial tumors found within 60 days of birth (2). Congenital tumors of the central nervous system (CNS) are classified as "absolutely congenital" (detected at birth) and "probably congenital" (detected within 6 months of age) (3). To date, only 20-30 cases of congenital MB have been reported worldwide, constituting an extremely rare entity (4). ...
Background
Congenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by SUFU mutation.
Clinical presentation
Medulloblastoma was detected in two brothers at 2 and 3 months of age, with very similar imaging features. Genetic testing revealed that both children and their mother carried SUFU gene germline mutations, and both brothers were diagnosed with Gorlin-Goltz syndrome.
Conclusion
Gorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce.
... They usually arise in paraxial structures, mostly inside the gonads (1,3). The extra-gonadal sites make up 15% of all teratomas, and retroperitoneum is below 4% of the cases (1,(3)(4)(5). They are more common in infants or young girls, usually within the sacrococcygeal region but very rarely in adults (1)(2)(3)(4)(5)(6). ...
... The extra-gonadal sites make up 15% of all teratomas, and retroperitoneum is below 4% of the cases (1,(3)(4)(5). They are more common in infants or young girls, usually within the sacrococcygeal region but very rarely in adults (1)(2)(3)(4)(5)(6). Since gonadal malignancies usually metastasize to the retroperitoneum, it is important to distinguish primary retroperitoneum neoplasms (6). ...
Introduction: Primary retroperitoneal mature cystic teratomas (PRPMCT) are uncommon in adults. They typically occur in infants under six months old and young females. So far, some limited case reports have been documented in the literature. This case report presents a rare case of an adult patient with PRPMCT aged over 30 years. Case Presentation: The patient was a 34-year-old female with PRPMCT in the site of the left adrenal gland and abdominal discomfort. Computed tomography (CT) scan revealed a 66 mm hypodense lesion with fat attenuation and calcification in the left retroperitoneum. Laparotomy with resection of the retroperitoneal (RP) lesion was done. Gross examination showed a solid multicystic mass measuring 8x6.5x6 cm. Histopathologic examination revealed a neoplastic tissue composed of mature osseous and cartilaginous tissue associated with stratified squamous epithelium and lumens lined by ciliated columnar epithelium, and the diagnosis was mature cystic teratoma. The patient had an uncomplicated postoperative course without recurrence after seven months of follow-up. Conclusions: PRPMCT in adults is extremely rare. RP metastasis of primary gonadal teratoma and non-functioning adrenal tumors should be excluded first. Due to the diagnostic difficulty of posterior peritoneal teratoma with radiological imaging and its risk of malignancy, surgical resection would be the most effective diagnostic and therapeutic option. Complete resection of the mass is important to judge the existence of immature and solid components that require a long-time follow-up because of the increased risk of malignancy.
