Rare Congenital Tumor Research Articles

Malignant transformation and tumour recurrence in sacrococcygeal teratoma: a global, retrospective cohort study.

Sacrococcygeal teratoma (SCT) is a rare congenital tumour. The risk of malignancy and recurrence are not well defined. Previous studies are small and report differing conclusions about the timing of surgery and the duration of follow-up. We studied the risk of malignant transformation and SCT recurrence after surgery to address these gaps. This was a global retrospective cohort study. Data of consecutive SCT patients was obtained from 145 institutes in 62 countries. Malignant transformation, defined as malignancy at initial resection, malignant recurrence or death due to malignancy, and its risk factors were analysed. Of the 3612 included patients, 3407 entered analysis. Risk of malignant transformation of the initial tumour, was 3.3%, 5.1%, 10.1%, and 32.9% at age three months, six months, one year, and two years, respectively. After six years, the censored risk of malignancy (64%) did not further increase. Recurrent SCT was diagnosed in 349 (10·2%) children with 126 (36·1%) malignant recurrences. Risk factors for recurrence were Altman type II (odds ratio (OR): 1·6, 95% confidence interval (CI): 1·2-2·3), Altman type III (OR: 1·6, 95% CI: 1·2-2·3), initial immature histology (OR: 1·9, 95% CI: 1·4-2·6), and initial malignant histology (OR: 4·0, 95% CI: 2·9-5·4). The risk of malignancy at initial resection in SCT increases with age reaching a plateau at six years of age. Recurrence after resection occurred in 10% of patients and 36% of these were malignant at that time. Altman type II or type III, and immature or malignant histology were associated with recurrence. level III.

LMIC-12. INFANT-TYPE HEMISPHERIC GLIOMA: CAN IT BE EFFECTIVELY MANAGED IN AN UPPER-MIDDLE-INCOME COUNTRY?

Abstract BACKGROUND Infant-type hemispheric glioma (IHGs) is a rare congenital tumor and a newly defined entity in the 2021 WHO classification for central nervous system tumors. It harbors, in mostly cases, a tyrosine kinase receptor rearrangement in NTRK family, ALK, ROS1 and MET. The aim of this study is to describe the demographic characteristics, treatment, and outcomes of a cohort of pediatric patients with IHGs in one single institution. METHODS A retrospective study was performed between 2012-2023. Overall survival (OS) was measured from diagnosis to date of death or last follow-up. The Kaplan–Meier method was used for survival analysis. RESULTS Fourteen patients were included. Median age was 4.4 months (range 0.1- 37months). All patients underwent neurosurgical resections, with a median of 2 (range 1-6). Eight patients performed molecular analyses showing three ALK, two NTRK, two ROS and one MET rearrangement. Twelve patients received chemotherapy-lines, four of them more than one schema, with a median of 3 (range 2-5). Three patients were submitted to focal radiotherapy after 3 years of age and three received target therapies (crizotinib/ alectinib, lolartinib and repotrectinib). In a median follow-up of 46.9 months (2-125months), the OS in 5/10 years was 73.9% and 55.4%, respectively. Four patients died, one due to neurosurgical complications at diagnosis, one from refractory seizure 47 months after diagnosis with no evidence of disease, and two due disease progression with eight and 74 months after initial diagnosis, the last one despite 2-lines of target therapy. CONCLUSION Our series reveals acceptable and encouraging survival rates, demonstrating that not only new molecular discoveries but also optimal multidisciplinary treatment makes a difference in survival of patients with IHG even in countries with limited resources. However, access to targeted therapy remains an obstacle to be overcome for the optimal management of these patients.

Sacrococcygeal Tumor – A Rare Case Report

Sacrococcygeal teratoma (SCT) is a rare congenital tumor primarily affecting infants, with a prevalence of approximately 1 in 35,000 live births. These tumors, often detected either prenatally or shortly after birth, originate from germ cells and typically occur at the base of the coccyx. Despite their benign nature, SCTs can pose significant risks to fetal and maternal health, necessitating careful management and monitoring. A 32-year-old primiparous woman presented to Siak Regional Hospital at 36 weeks of gestation with complaints of uterine contractions and bloody mucus discharge from the birth canal. A physical examination revealed a palpable mass in the uterine fundus and pubic symphysis. Ultrasonography confirmed the presence of a fetal SCT with a solid mass measuring 6.2 x 8.1 x 7.3 cm in the sacral region, and a cesarean section was performed. The infant, a baby girl, was born with a birth weight of 2150 grams and an Apgar score of 3/4. Congenital abnormalities were observed in the form of a solid mass around the sacrum, indicative of SCT. SCT poses challenges in prenatal diagnosis, management, and prognosis. Prompt recognition and multidisciplinary management are essential for optimizing outcomes. Further research is needed to enhance understanding and improve therapeutic strategies for this rare congenital anomaly. SCT is a rare congenital anomaly that requires early diagnosis. Thorough examination with ultrasonography is essential to rule out other congenital anomaly, and predict prognosis.

Malignant Medulloepithelioma of the Ciliary Body Revealed by Neovascular Glaucoma in a 13-Year-Old Child

Medulloepithelioma of the ciliary body is a rare congenital intraocular tumor occurring more frequently in children. It develops from the unpigmented epithelium of the ciliary body. Positive diagnosis relies essentially on anatomopathological examination. In our article, we report a case of malignant medulloepithelioma of the ciliary body in a 13-year-old child revealed by severe panuveitis complicated by neovascular glaucoma and non-axial exophthalmos.

Beyond the Crib: Unraveling the Enigma of Neonatal Nasopharyngeal Mass

Germ cell tumours that develop at birth are rare, with teratomas most frequently occurring in the sacrococcygeal area. Nasopharyngeal teratomas are also rare, occurring in less than 10% of head and neck teratomas. Immature Nasopharyngeal Teratoma (INT) in neonates presents a rare yet challenging clinical scenario. It can manifest with significant respiratory distress and airway compromise, necessitating prompt recognition and intervention. Diagnostic modalities such as imaging studies and biopsy aid in accurate diagnosis and treatment planning. Surgical resection remains the cornerstone of management, with complete excision being essential to optimise outcomes. The present case report highlights the importance of multidisciplinary collaboration and continued research efforts to refine therapeutic approaches and improve patient outcomes. Here, the authors present a rare case of INT in a 51-day-old male child. A 51-day-old male child, normal vaginal delivery and cried immediately after birth with complaints of respiratory distress from 8th day of life, for which he was treated with antibiotics and started on mechanical ventilation. In view of failure of extubation, bronchoscopy was done which revealed a nasopharyngeal mass. Magnetic Resonance Imaging (MRI) showed a heterogeneous mass measuring 2.3×3.9×3.1 cm (anteroposterior x transverse x craniocaudal) involving the parapharyngeal space and carotid space, extending into the retropharyngeal space, with no evidence of intracranial extension. Histopathology showed features of an immature solid teratoma. Nasopharyngeal teratomas are extremely rare congenital tumours, with only a few cases reported in the medical literature. INT in neonates represents a rare yet clinically significant entity that requires prompt recognition and intervention. Multidisciplinary collaboration and comprehensive management strategies are essential to optimise outcomes for affected neonates.

Oropharyngeal teratoma in a newborn: A case report

Background: Facial teratomas are rare congenital tumors in the craniocervical region. They constitute only 2-5% of all childhood teratomas. Case Presentation: This report presents a case of an oral teratoma in an infant, attached to the palate and extending sublingually on the right side, along with a cleft palate. The patient underwent successful surgical excision on the 17th day of life performed by a team of pediatric and maxillofacial surgeons. Conclusion: The case emphasizes the importance of interdisciplinary coordination for the management of facial teratomas, involving maxillofacial and pediatric surgeons, neonatologists, anesthesiologists, and obstetrics specialists.

Pediatric Dorsal Intradural Extra-Medullary Epidermoid Cyst (Non-Dysraphic): An Illustrative Case with Literature Review

A spinal epidermoid cyst is a rare congenital tumour that may be associated with spinal dysraphism. Congenital spinal epidermoid cysts without spinal dysraphism are rare. Here we are reporting a rare and interesting case of thoracic Intradural extra-medullary epidermoid cyst not associated with spinal dysraphism. Epidermoid cysts (EC) represent less than 1.0% and are rarely seen as an intradural extra-medullary spinal cord tumor. Preoperative Clinico- Radiological assumption is important for surgical planning. Journal of National Institute of Neurosciences Bangladesh, January 2023;9(1):88-95

Anesthetic management of congenital epulis in a newborn: a case report.

The authors report a case of a 4-day-old neonate with a large mass arising from the right upper gingival area and occupying most of the oral cavity who presented for surgery with a potentially difficult airway. Intubation was achieved uneventfully using a gaseous induction with an appropriate-size facemask and displacement of the epulis to allow cautious laryngoscopy. General anesthesia offers good airway protection and also alleviates the stress and pain associated with the surgery. Congenital epulis is a relatively rare congenital tumor of a newborn, which is one of the causes of difficult airways in neonates and children. However, after slight manipulation of the tumor, endotracheal intubation for the administration of general anesthesia is attainable.

Superficial Lipomatous Hamartoma: An Unusual Presentation

Superficial lipomatous hamartoma is a rare congenital and benign tumor characterized histologically by the presence of lipoblastic fat cells around the vascular pathways. We report a new observation of an atypical localization of this entity.

Generalized Infantile Myofibromatosis with Extensive Small Bowel Involvement in a Neonate.

Infantile myofibromatosis is a rare benign congenital tumour that often regresses spontaneously but may pose therapeutic challenges in its widespread visceral form. We present the case of a full-term neonate with generalized infantile myofibromatosis including ubiquitous subcutaneous and muscular nodules, a tumour in the mastoid and disseminated intestinal involvement. The intestinal tumours led to a mechanical ileus with intestinal perforation within the first days of life. After partial small bowel resection and necessary proximal jejunostomy the boy was dependent on total parenteral nutrition. Chemotherapy with vinblastine and methotrexate was started and was temporarily supplemented with imatinib. Feeding stayed impossible despite tumour shrinkage. At the age of 4.5 months, restoration of intestinal continuity with further stricturoplasties was performed which - for the first time - allowed complete oral feeding. Chemotherapy was continued for further two months. Currently, the child is in good general condition with growth and further disease regression. This report suggests that massive visceral involvement of infantile myofibromatosis may require extensive intestinal surgery, as conservative therapy cannot resolve the disease and its sequelae.

Fetal Lung Interstitial Tumor (FLIT): A case series

Background: Fetal Lung Interstitial Tumor (FLIT) is a rare benign lung tumor. There have been 18 cases of FLIT described in the literature. FLIT is characterized by a region of arrested lung development and must be differentiated from other congenital lung lesions with poorer prognoses. Case Presentation: We report the first two known cases of FLIT in Australia and New Zealand. In both cases, the patients developed respiratory distress at birth requiring intubation. Imaging revealed solid lesions and echocardiography demonstrated pulmonary hypertension. The patients underwent surgical resection without any complications or recurrence. Conclusion: FLIT is a rare benign congenital lung tumor that can be adequately managed with surgical resection.

Splenic lymphangioma in adult patient treated with laparoscopic splenectomy: A rare case report

Splenic lymphangioma is a benign cystic tumor that develops as a result of lymphatic vessels' congenital abnormalities. It is a rare condition that mostly occurs in children and young adults. Due to the lack of typical symptoms and signs, splenic lymphangioma is difficult to diagnose and often incidentally revealed during radiological examinations. We report a case of a 55-year-old Asian female, who presented with left upper quadrant abdominal pain in the past 3 days. She had mild upper abdominal tenderness, with no other specific findings. Abdominal contrast material-enhanced computed tomography revealed three hypodense lesions arising from a normal-sized spleen. The histologic findings after laparoscopic splenectomy demonstrated a 3-cm-diameter yellowish-white tumor made up of multiple cystic structures. Primary benign splenic tumors are exceedingly rare, especially in adults over 20. While small lesions are mostly asymptomatic, bigger lesions can cause organ compression or even rupture. Therefore, even in adults with pain in the left upper quadrant abdomen or enlarged spleen, splenic lymphangioma should be taken into account in the differential diagnosis. The case serves as an example of a rare congenital splenic tumor. Treatment of this benign splenic abnormality with laparoscopic splenectomy is a good, safe approach.

Posterior Fossa Intradural Dermoid Cyst with a Dermal Sinus Complicating with Cerebellar Abscess and Acute Obstructive Hydrocephalus in a Child: Case Report

Posterior Fossa Dermoid Cysts (PFDCs), associated with a Dermal Sinus (DS), are rare congenital brain tumors. More rarely, PFDCs may complicate with cerebellar abscess or hydrocephalus. These complications are represented in only a few case reports as a separate entity.

Sacrococcygeal teratomas: a case-based review from the perspective of individual multidisciplinary experts.

Sacrococcygeal teratoma (SCT) is a rare congenital tumor originating from a variant of extragonadal germ cell neoplasm. Herein, we present three cases of neonatal SCTs undergoing surgical resection and reconstruction. We also review the literature to discuss the importance of proper perinatal management and timely surgical intervention depending on the tumor type and maturity to prevent malignant transformation and recurrence and ensure functional outcomes. Three cases of SCT were retrospectively analyzed. All infants underwent complete surgical resection of the SCT and coccygectomy during their neonatal/infancy period, followed by pelvic floor and buttock reconstruction while minimizing buttock contour deformity and undesirable skin scar. Two of the cases were histopathologically diagnosed as predominantly cystic mature teratomas of Altman types I and IV, and the third was a mature teratoma of Altman type II. There were no complications or tumor recurrence during the average follow-up period of 5.3years. This case-based review highlights the role of multidisciplinary team approaches, including prenatal monitoring, oncologic resection, and adequate reconstruction according to the type of tumor and anomaly. Optimal perinatal evaluation allows promising oncologic and functional outcomes in terms of timely intervention to eliminate tumor recurrence and malignant transformation. Complete oncologic surgical resection of SCTs should also include proper functional preservation strategies, such as the reconstruction of the pelvic floor, cosmetic buttock contouring, and preservation of bladder and bowel sphincter function.

A congenital epignathus of tongue in a newborn

Oral teratomas are very rare congenital tumors derived from pluripotent stem cells. There are almost exclusively described in children, especially newborns, in whom most oral teratomas include localization in the tongue known as epiganthus. This current case report describes an 8-Hour-old newborn infant hospitalized in the neonatal intensive care unit for a huge tongue mass. Note that the newborn did not benefit from prenatal diagnosis. The tongue mass had a heterogeneous and multi-cystic aspect with visualization of hair in its center. This mass A surgical resection under general anesthesia was performed on the newborn, the histological result is in favor of a mature teratoma, the postoperative follow-up was favorable.

Fibrous dysplasia of the paranasal sinuses: case report

<p class="abstract">Fibrous dysplasia (FD) is a rare congenital non-malignant bone tumor that affects the skeletal system development and interferes with normal bone formation. It’s non-hereditary and its exact cause remains unknown. The condition is characterized by fibro-osseous connective tissue gradually replacing normal bone and marrow leading to the formation of bone that’s fragile and prone to fractures. It is not uncommon for the disease to affect craniofacial bones but the sinonasal cavity involvement remains extremely rare. We presented a case of an 80-years-old male patient who reported nasal obstruction and a long-term swelling in the upper jaw that dates back over 20 years resulting in facial deformities and unilateral proptosis from compression exerted on the eye by the tumor. The patient reported having taken drugs to treat symptoms especially nasal congestion. But his dyspnea persisted. Physical examination, computed tomography (CT) scan and MRI have been elaborated and discussed. And on last resort, surgery was recommended.</p>

Mature ruptured sacrococcygeal teratoma in a 1-day old neonate

Sacrococcygeal teratomas (SCTs) are rare congenital tumors that are derived from embryonic germ cell layers [1]. They are the most common extragonadal germ cell tumors (GCTs) in the neonate, with a reported incidence of 1 in 35 000 births [2]. Teratomas are made of tissues that derive from three germinal layers (ectoderm, endoderm, and mesoderm). Sacrococcygeal teratomas are more common in girls, with a sex ratio of 1:4 [3]. The most frequent location of teratoma in children is the sacrococcygeal area [4]. Many sacrococcygeal teratoma cases are diagnosed prenatally with routine ultrasonography between the 22nd and the 34th week of gestation. However, access to routine prenatal ultrasound in low and middle income countries is limited [5]. Antenatal diagnosis is essential to the pregnancy management and to prevent neonatal death by identifying fetuses that are at a higher risk of complications and planning an adequate intervention when needed [6]. This case is reported to describe a North African neonate presenting with a sacrococcygeal teratoma at birth without prior antenatal diagnosis, and highlight the need for prenatal routine care in low and middle income countries.

SARS-COV2 Infection Revealing a Thymic Cyst

The COVID-19 pandemic is an unprecedented global health crisis, Thoracic imaging has demonstrated its valuable role in the development of this pneumopathy. But has also allowed the evidence of asymptomatic attacks. We report the observation of a patient whose thoracic scan performed during his covid infection, revealed a thymic cyst, which is a very rare congenital tumor in adults.

Calvarial melanotic neuroectodermal tumor of infancy: A rare case report

Abstract Background: Melanotic neuroectodermal tumor of infancy (MTNI) is a rare congenital tumor of neural crest origin. It is a locally aggressive tumor affecting infants during the first year of life. It commonly arises in the maxilla, mandible, and in the cranial vault. MTNI is usually a benign lesion. Occasionally, it may turn malignant. Though the tumor can be detected by computed tomography and magnetic resonance imaging, an exact diagnosis can only be made by histopathology and immunostaining. Complete surgical excision of the tumor is the gold standard treatment of choice. Benign cranial vault tumors have a good prognosis in contrast to malignant tumors. Case Description: A 3-year-old male child was brought by his mother to the outpatient department with complaints of a large swelling on the left temporal-parieto-occipital region. Computed tomography and magnetic resonance imaging were done which revealed a large hyperdense and hypointense mass in the left temporal-parieto-occipital region with lytic alterations in the skull. The tumor was excised, and tissue sent for histopathology and immunostaining, which revealed a diagnosis of a malignant neuroectodermal tumor of infancy. The patient recovered well in the follow-up period. Conclusion: We report an exceedingly rare case of giant malignant neuroectodermal tumor of infancy (progonoma).

Gastro-Intestinal Bleeding Indicative of Retro-Duodenopancreatic Cystic Lymphangioma: A Case Report

Cystic lymphangioma is a rare malformative congenital tumor of the lymphatic vessels. It is commonly seen in children and mainly occurs in the head and cervicothoracic region. Abdominal and especially retroperitoneal involvement is rare in adults. This tumor is often asymptomatic but it can be manifested by mass effect with polymorphic symptomatology depending on the location and size. Digestive haemorrhage due to retroperitoneal cystic lymphangioma with posterior duodenopancreatic infiltration in an elderly patient is an exceptional manifestation of a benign tumor. We report a case of retro-duodenopancreatic cystic lymphangioma revealed by gastrointestinal bleeding in a 65 year-old man who was treated by tumor resection with organ preservation. The recovery was complicated by a duodenal fistula with spontaneous dry-up within 17 days, the patient left the hospital in 3 weeks.