RESUMO
BACKGROUND: We present the case of a rare occurrence of an anterior mediastinal mature teratoma extending into the neck, commonly referred to as a cervicothoracic mature teratoma. CASE PRESENTATION: A 19-year-old female presented with right-sided neck pain and swelling, which were found to be attributed to a 14 cm cystic lesion originating from the right thyroid lobe and extending into the mediastinum. A diagnosis of mediastinal teratoma with extension to the neck was made. Robot-assisted thymectomy was initiated but was complicated by dense tumor adherence to the superior vena cava and brachiocephalic veins, prompting a switch to a midline sternotomy. Simultaneous resection of the right thyroid lobe was performed due to inflammation. The transition to a midline sternotomy allowed successful excision of the tumor, which was confirmed to be a mature teratoma confined to the thoracic region. The patient's favorable postoperative course led to discharge on day 5 with no recurrence at nine months. CONCLUSIONS: Emphasizing the challenges and the importance of prompt intervention in the management of mediastinal teratomas with neck extension.
RESUMO
Key Clinical Message: Mature mediastinal teratoma (MMT) is a benign tumor that is composed of well-differentiated tissues from all three germ cell layers. Malignant tumors have a distinct feature of adhering to the surrounding organs. Therefore, adhesion of MMT to the adjacent tissues, as a benign tumor, is rare and considered a surgical challenge. It leads to incomplete tumor resection to avoid damage to the surrounding tissues. Abstract: MMT is a germ cell tumor that contains well-differentiated tissues from ectodermal, mesodermal, and endodermal germ cell layers. MMT comprises approximately 3%-12% of mediastinal tumors in adults and 60%-70% of mediastinal germ cell tumors. Complete surgical resection is the standard treatment. When adhesion to the surrounding tissues is present, residual tissues could be retained to reduce the injury of the peripheral blood vessels and nerves. We are reporting a rare case of MMT with adhesions to the pericardium and discussing the diagnostic and surgical challenges.
RESUMO
Teratomas are germ cell tumors, commonly affecting ovaries. Teratomas rarely affect extragonadal tissues. Few cases of teratomas occurring in extragonadal tissues have been reported in the past. However, no studies have reported cases of primary teratomas occurring in the broad ligament. In this study, we report a case of a sexually inactive young woman with a 3-day history of lower abdominal pain. B-ultrasound examination revealed an abnormal strong echogenicity mass in the left adnexal area. An exploratory laparotomy was performed on her. The surgery revealed normal size and appearance of both ovaries and uterus. However, a cyst was observed in the left broad ligament, which was diagnosed as benign mature teratoma based on pathology. In this study, we report a rare case of broad ligament teratoma. The clinical data enrich our understanding of teratomas and provide a reference for further studies.
RESUMO
Fetal teratomas, though rare, represent a significant proportion of tumors arising during fetal development. These tumors arise from pluripotent cells and can present in varying degrees of severity, ranging from incidental findings to life-threatening conditions. Prenatal imaging, via ultrasound and MRI, is necessary for diagnosis and risk assessment. The management of fetal teratomas, particularly those associated with complications like hydrops or airway obstruction, often requires a multidisciplinary approach. Interventions such as ex-utero intrapartum treatment (EXIT) procedures and minimally invasive alternatives have emerged as critical tools to improve neonatal outcomes in severe cases. Despite advances in fetal therapies, careful prenatal monitoring and individualized management remain essential, especially for tumors with high vascularity or those that risk compromising cardiac output. This review explores the diagnostic methods, management strategies, and outcomes associated with fetal teratomas, highlighting recent advancements that contribute to improving survival and reducing morbidity in affected neonates.
RESUMO
Introduction: Spinal teratomas are rare, accounting for nearly 0.2-0.5% of all spinal tumors and 2% of all teratomas. Teratomas at the conus medullaris location do not inherently lead to epilepsy. However, potential epileptic seizures are caused when teratoma ruptures and the chemical stimulation of teratoma components enter the dural sac. Case Presentation: A 31-year-old Asian male patient suffering from epileptic onset and poor antiepileptic treatment was demonstrated. The spinal imaging examination was performed, and the patient suffered a space-occupying lesion within the conus medullaris related to spinal deformity, spinal embolism, etc. The autoimmune encephalitis spectrum revealed mGluR5 antibody IgG (+) 1:10 response. The patient stabilized after treatment with hormones and human immunoglobulin. Some hair and lipid droplets could be observed in the dural sac intraoperatively, and more hair and lipid-like material were present in the spinal cord. Postoperative pathology established the diagnosis as a conus medullaris teratoma in adults. Epileptic seizures stopped after surgery, and no additional seizures were reported during the 33-month follow-up period. Conclusions: Conus medullaris teratoma rupture in adults rarely causes epileptic seizures. For spinal deformity patients with unexplained epileptic symptoms, spinal MRI can be helpful in early diagnosis, and more appropriate treatment improves disease prognosis.
RESUMO
Mediastinal teratomas, originating from pluripotent embryonic cells, are uncommon germ cell tumors that contain tissues from all three germ layers. Despite being the most frequent germ cell tumors in the mediastinum, they remain rare overall. This case describes a 19-year-old male who presented with chest pain, shortness of breath, and difficulty in swallowing and was ultimately diagnosed with a mature cystic teratoma in the anterior mediastinum. Imaging and histopathological analysis confirmed a large cystic teratoma, which was successfully removed via median sternotomy. Although the postoperative period was complicated by air leaks, infections, and an extended hospital stay, the patient fully recovered and was symptom-free at the one-month follow-up. This case underscores the value of comprehensive diagnostic assessment and demonstrates the favorable prognosis associated with complete surgical removal of thymic teratomas.
RESUMO
Background and Objective: Malignant transformation (MT) in mature cystic teratoma of the ovary (MCTO) is rare. This descriptive study primarily aims to determine the prevalence rate of MT in MCTO and describe clinicopathologic features, management, and prognosis of patients who developed this rare type of tumor and likewise deliver a review in the light of recent literature. Methods: This is a descriptive observational study of 22 patients with MT in MCTO at a Level 3 Tertiary Public Hospital in Baguio City, Philippines. The clinical and pathological records of each patient were reviewed. Descriptive statistics were used. Results: Between January 2016 to December 2020, of the 369 cases of mature cystic teratoma, 22 cases with malignant transformation were reported with an incidence of 6%. The mean age of diagnosis was 52 years, of which 70% are aged 50 years old and above. Fifty-nine percent (13/22) and 32% (7/22) of the cases were squamous cell carcinoma and mucinous adenocarcinoma, respectively. Very rarely, malignant transformations were carcinoid tumors (1) and follicular carcinoma (1). The most common reason for consult among patients is a palpable abdominal/pelvic mass (45.5%). Around 60% percent of cases have an elevated CA-125 value with a mean level of 180 U/ml. Seventy-two percent of cases with malignant transformation measured 10 cm or more with the largest mean diameter of 13 cm. Five patients underwent fertility-sparing surgery. Fourteen had staging procedures. Twelve patients were at Stage I. Three were at Stage II. Four and three patients were at Stage III and IV, respectively. Ten patients received adjuvant platinum-based chemotherapy and nine patients warrant no treatment after surgery. The median survival time is 14 months. Conclusion: Although not common, malignant transformation in MCT should be considered in older patients with large tumor sizes and elevated CA-125 assessed as MCT in preoperative and intraoperative assessment. This ovarian malignancy suggests an aggressive behavior but complete resection with systematic staging and indicated adjuvant platinum-based chemotherapy may improve survival.
RESUMO
Anterior gradient-2 (AGR2) is highly expressed in several tumors and plays an important role in tumor development. However, the biological function of AGR2 in teratomas has not yet been thoroughly studied. In this study, AGR2 was found to be upregulated in teratoma tissues and in human testicular teratoma cell lines by Western blotting and qRT-PCR assays. A DNA Methylation-Specific PCR assay demonstrated that AGR2 upregulation resulted from hypomethylated AGR2 in teratoma cells. NCC-IT and NT2-D1 cells were transfected with pcDNA-AGR2 or sh-AGR2 to obtain AGR2-overexpressed or -silenced cells, and cell proliferation, invasion and glycolysis were determined using CCK-8, 5-ethynyl-2'-deoxyuridine (EdU), Transwell assays, and commercial kits. The results revealed that overexpression of AGR2 promoted teratoma cell proliferation and invasion and elevated glycolysis levels evidencing by the increase in lactate secretion, glucose consumption, ATP levels and the expression of glycolysis-related proteins, while knockdown of AGR2 showed the opposite results. The interactions between AGR2 and annexin A2 (AnXA2), as well as between AnXA2 and epidermal growth factor receptor (EGFR) were verified by co-immunoprecipitation assay. Mechanistic studies revealed that AGR2 interacts with AnXA2 and increases the level of AnXA2 to recruit more AnXA2 to EGFR, there by promoting EGFR expression. A series of rescue experiments showed that knockdown of AnXA2 or EGFR weakened the promotional effects of AGR2 overexpression on the proliferation, invasion, and glycolysis of teratoma cells. Finally, tumorigenicity assays were performed using NT2-D1 cells stably transfected with either LV-NC-shRNA or LV-shAGR2. The results showed that AGR2 knockdown significantly inhibited teratoma tumor growth in vivo. In conclusion, our data suggested that AGR2 facilitates glycolysis in teratomas through promoting EGFR expression by interacting with AnXA2, thereby promoting teratoma cells proliferation and invasion.
Assuntos
Anexina A2 , Proliferação de Células , Receptores ErbB , Glicólise , Mucoproteínas , Proteínas Oncogênicas , Neoplasias Testiculares , Humanos , Mucoproteínas/genética , Mucoproteínas/metabolismo , Glicólise/genética , Proteínas Oncogênicas/metabolismo , Proteínas Oncogênicas/genética , Animais , Proliferação de Células/genética , Masculino , Receptores ErbB/metabolismo , Receptores ErbB/genética , Camundongos , Anexina A2/metabolismo , Anexina A2/genética , Neoplasias Testiculares/patologia , Neoplasias Testiculares/genética , Neoplasias Testiculares/metabolismo , Linhagem Celular Tumoral , Camundongos Nus , Regulação Neoplásica da Expressão Gênica , Transdução de Sinais , Proteínas/metabolismo , Proteínas/genética , Movimento Celular/genética , Camundongos Endogâmicos BALB C , Invasividade NeoplásicaRESUMO
Teratomas are neoplasms arising from germ cells and encompass tissues derived from two or more embryonic germ layers, including ectoderm, mesoderm, and endoderm. These tumours typically localize along the midline or in paramedian positions and can manifest as gonadal (20%) or extragonadal (80%) entities. Although gonadal teratomas are uncommon, they represent the predominant type of gonadal tumour in the paediatric population. They comprise approximately 20-25% of all ovarian tumours in females and about 3-5% of all testicular tumours in males. Ovarian teratomas exhibit a higher incidence in early childhood and adolescence, whereas testicular teratomas are more prevalent during the first three months of life and between the ages of 15 and 19. While the majority of paediatric gonadal teratomas are benign, malignant or mixed variants may also arise, necessitating more aggressive therapeutic interventions.
RESUMO
INTRODUCTION AND IMPORTANCE: Malignant transformation of ovarian teratomas is rare, provoking peritonitis and death are exceedingly rare. CASE PRESENTATION: We present the case of a 75-year-old woman who was admitted to the emergency department for severe abdominal pain with septic shock due to acute peritonitis caused by perforation of the ovarian mass. CLINICAL DISCUSSION: Teratomas are germ cell tumors usually composed of multiple cell types derived from one or more of the three germ layers. Pathologically, malignant transformation of ovarian dermoid cysts is rare due to the thickness of the capsule, spontaneous rupture is a very rare complication, acute peritonitis presents with features of acute abdomen or shock, treatment is essentially surgical and includes at least unilateral adnexectomy, complete exploration of the pelvis and abdominal cavity, peritoneal washing and/or sampling of any ascites. CONCLUSION: In conclusion, although ovarian teratoma with granulomatous peritonitis is rare, rupture leading to generalised acute peritonitis further worsens the prognosis. Which will ensure correct management that will provide a good outcome with less complications.
RESUMO
Germ cell tumors encompass a broad spectrum of neoplasms arising from germ cell lineage, demonstrating varying histological profiles and clinical presentations. These tumors encompass a range of benign and malignant entities. While global trends provide insights into their prevalence, specific regional variations, such as those within North-Western India, remain less explored. This study seeks to bridge this knowledge gap by examining the prevalence and characteristics of germ cell tumors within a tertiary cancer hospital. In this retrospective analysis, all cases of germ cell tumors diagnosed over a 3-year period in the specified tertiary cancer hospital were included. Cases with incomplete records or inadequate pathological data were excluded. Data encompassing histological subtypes, patient age distribution, clinical presentations, and histopathological features were collected and analyzed. The study comprised 145 cases of germ cell tumors. Teratomas were the most prevalent subtype, with mature teratomas accounting for the majority. The highest incidence occurred within the 21-30-year age group with a mean age of 24.77 years. Abdominal mass (56%) and abdominal pain (34%) were the prominent clinical presentations. Benign cases constituted the majority 85.5%. Solid tumors (p < 0.00001) and tumors more than 10 cm (p .029028) were found to have a high propensity to be malignant, which was proven to be statistically significant. This study comprehensively explains germ cell tumors' prevalence, clinical features, and histopathological subtypes in a tertiary cancer hospital in North-Western India. The predominance of teratomas, particularly mature ones, aligns with global trends. The age distribution and clinical presentations reflect common patterns. The diverse histopathological appearances underscore the heterogeneous nature of germ cell tumors. This study offers valuable insights for clinical management and further regional research.
RESUMO
BACKGROUND: Immature ovarian teratoma is a rare and aggressive neoplasm that affects young women. This report is the first to describe the development of immature teratoma after ovarian cystectomy for mature teratoma of the ovary in an adolescent female with a family history of ovarian teratoma. CASE SUMMARY: A 16-year-old girl who had undergone bilateral ovarian cystectomy for mature teratomas 3 years ago showed bilateral adnexal tumors during her regular ultrasonography follow-up every 6 months. She received laparoscopic bilateral ovarian cystectomy, and final histopathology showed grade-1 immature teratoma of the left ovary and mature teratoma of the right ovary. Laparoscopic left salpingo-oophorectomy and staging procedures were performed again. Her mother, maternal aunt, and maternal grandmother had also received surgeries for mature ovarian teratomas. CONCLUSION: It is important to have guidance on management of patient and family members with familial ovarian teratomas.
RESUMO
Human induced pluripotent stem cells (iPSCs) hold great promise for personalized medicine, as they can be differentiated into specific cell types, especially mesenchymal stem cells (MSCs). Therefore, our study sought to assess the feasibility of deriving MSCs from teratomas generated from human iPSCs. Teratomas serve as a model to mimic multilineage human development, thus enriching specific somatic progenitors and stem cells. Here, we discovered a small, condensed mass of MSCs within iPSC-generated teratomas. Afterward, we successfully isolated MSCs from this condensed mass, which was a byproduct of teratoma development. To evaluate the characteristics and cell behaviors of iPSC-derived MSCs (iPSC-MSCs), we conducted comprehensive assessments using qPCR, immunophenotype analysis, and cell proliferation-related assays. Remarkably, iPSC-MSCs exhibited an immunophenotype resembling that of conventional MSCs, and they displayed robust proliferative capabilities, similar to those of higher pluripotent stem cell-derived MSCs. Furthermore, iPSC-MSCs demonstrated the ability to differentiate into multiple lineages in vitro. Finally, we evaluated the therapeutic potential of iPSC-MSCs using an osteochondral defect model. Our findings demonstrated that teratomas are a promising source for the isolation of condensed MSCs. More importantly, our results suggest that iPSC-MSCs derived from teratomas possess the capacity for tissue regeneration, highlighting their promise for future therapeutic applications.
RESUMO
BACKGROUND: Malignant Struma Ovarii (MSO) is a rare type of germ cell tumour which is diagnosed postoperatively on surgical pathology specimens by the presence of differentiated thyroid cancer in mature cystic teratomas in the ovaries. Treatment and follow-up procedures are not clearly established due to the paucity of MSO cases. CASE 1: A 44-year-old multiparous female presented with an irregular period. Ultrasound showed a left ovarian lesion mostly a dermoid cyst, however, CT showed a 3.8 × 2.7 × 4 cm complex cystic lesion with thick septation and enhancing soft tissue component. Laparoscopic left salpingo-oophorectomy was performed and histopathology showed a follicular variant of papillary thyroid carcinoma arising in a mature cystic teratoma. Peritoneal cytology was positive for malignancy. A thyroid function test was normal before surgery. Total thyroidectomy was performed followed by radioactive (RAI) iodine therapy. Later, a total laparoscopic hysterectomy and right salpingo-oophorectomy were performed. There is no evidence of recurrent disease during the 26-months follow-up. CASE 2: A 46-year-old single female presented with left lower abdominal pain that had persisted for 2 months. Imaging revealed an 8 × 9 × 9.5 cm left ovarian mass. Laparoscopic left salpingo-oophorectomy was performed and histopathology showed mature cystic teratoma with small papillary thyroid cancer. CT showed no evidence of metastatic disease. Later, the patient had a total thyroidectomy followed by radioactive (RAI) iodine therapy. She was started on thyroxine and later had total abdominal hysterectomy and right salpingo-oophorectomy. CONCLUSION: MSO is a very rare tumour. Preoperative diagnosis is very difficult because of the nonspecific symptoms and the lack of specific features in imaging studies. Also, there is no consensus on the optimal treatment of women with MSO. Our two cases add to the limited number of MSO cases.
Assuntos
Cisto Dermoide , Iodo , Neoplasias Ovarianas , Estruma Ovariano , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Estruma Ovariano/diagnóstico , Estruma Ovariano/cirurgia , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/cirurgiaRESUMO
Sinonasal teratocarcinosarcomas (SNTCSs) are malignant and highly aggressive neoplasms arising in the nasal cavity and paranasal sinuses with extension into surrounding structures and intracranial extension in few instances. They are commonly found in males (7-8 times more than in females). They pose difficulty in diagnosis due to their diverse histology. Ideal treatment modalities have not been devised yet due to the rare and highly aggressive nature of SNTCSs as shown in this case report. A 29-year-old Asian male was initially misdiagnosed on biopsy. Surgical debulking was performed initially which showed SNTCSs with radiological evidence of residual disease for which gross tumor clearance was done. He presented within a short span of a month, post re-resection with gross local recurrence. Urgent palliative radiotherapy was planned and started but unfortunately, he developed pulmonary and hepatic metastasis during radiation therapy and was commenced on palliative care only due to significant deterioration of performance status. Treatment of SNTCSs is often delayed due to their difficulty in diagnosis. Its highly aggressive nature prompts an urgent and aggressive treatment approach with adjuvant chemoradiation. Any type of adjuvant therapy is better than surgical resection only given its timely administration and close surveillance.
RESUMO
Testicular teratomas and teratocarcinomas are the most common testicular germ cell tumors in early childhood and young men, and they are frequently found unilaterally in the left testis. In 129/SvJ mice carrying a heterozygous copy of the potent modifier of tumor incidence Ter, a point mutation in the dead-end homolog one gene (Dnd1 Ter/+), â¼70% of the unilateral teratomas arise in the left testis. We previously showed that in mice, left/right differences in vascular architecture are associated with reduced hemoglobin saturation and increased levels of the hypoxia inducible factor-1 alpha (HIF-1α) in the left compared to the right testis. To test the hypothesis that systemic reduction of oxygen availability in Dnd1 Ter/+ mice would lead to an increased incidence of bilateral tumors, we placed pregnant females from 129/SvJ Dnd1 Ter/+ intercross matings in a hypobaric chamber for 12-h intervals. Our results show that in 129/SvJ Dnd1 Ter/+ male gonads, the incidence of bilateral teratoma increased from 3.3% to 64% when fetuses were exposed to acute low oxygen conditions for 12-h between E13.8 and E14.3. The increase in tumor incidence correlated with the maintenance of high expression of pluripotency genes Oct4, Sox2 and Nanog, elevated activity of the Nodal signaling pathway, and suppression of germ cell mitotic arrest. We propose that the combination of heterozygosity for the Ter mutation and hypoxia causes a delay in male germ cell differentiation that promotes teratoma initiation.
RESUMO
Ovarian dermoid cysts, also called mature cystic teratomas (MCTs), account for 69% of ovarian germ cell tumors in young women. The tumors are formed by tissues derived from three germ layers, and sebaceous materials are most commonly seen. The origin of MCTs is widely considered to be the germ cell origin, which completes meiosis I. The clinical symptoms vary widely, but 20% of tumors could be asymptomatic. The diagnosis of MCTs is usually made without difficulty by ultrasound and confirmed by histopathology post-operatively. The imaging findings have a high diagnostic value. The typical characteristics present in the sonographic images, including a dermoid plug or Rokitansky nodule, are considered strong evidence for a teratoma. Although the malignant transformation of MCTs is rare, it can occur in some cases, especially in women of advanced age. The treatment of MCTs depends on the risk of malignancy, the age of the patient, and the patient's fertility reserve requirement. In this article, we review the epidemiology, clinical symptoms, diagnosis criteria, cellular origin, and treatment of mature cystic teratomas.
Assuntos
Neoplasias Ovarianas , Teratoma , Humanos , Feminino , Teratoma/diagnóstico , Teratoma/patologia , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/patologia , Meiose , Transformação Celular NeoplásicaRESUMO
Pluripotent stem cell research has revolutionized the modern era for the past 14 years with the advent of induced pluripotent stem cells. Before this time, scientists had access to human and mouse embryonic stem cells primarily for basic research and an attempt towards lineage-specific differentiations for cell therapy applications. Regarding pluripotent stem cells, expression of bonafide marker proteins such as Oct4, Nanog, Sox2, Klf4, c-Myc, and Lin28 have been considered giving a perfect readout for pluripotent stem cells and assessed using an analytical flow cytometer. In addition to the intracellular markers, surface markers such as stage-specific embryonic antigen-1 for mouse cells and SSEA-4 for human cells are needed to sort pure populations of stem cells for further downstream applications for cell therapy. The surface marker SSEA-4 is the most appropriate for obtaining pure populations of human pluripotent stem cells. When differentiated in a controlled manner using growth factors or small molecules, it is mandatory to assess the downregulation of pluripotency markers (Oct4, Nanog, Sox2, and Klf4) with subsequent up-regulation of stage-specific differentiation markers. Such assessments are done using flow cytometry. Pluripotent stem cells have a high teratoma-forming potential in vivo. Small amounts of undifferentiated PSCs might lead to dangerous teratomas upon transplantation if leftover in the pool of differentiated cells. Hence, flow cytometry is essential for sorting out PSC populations with teratoma-forming potential. The pure populations of differentiated progenitors need to be flow-sorted before differentiating them further for cell therapy applications. For example, Glycoprotein 2 is a specific cell-surface marker for pancreatic progenitors that enables one to sort the pancreatic progenitors differentiated from human PSCs. Taken together, analytical flow cytometry, and cell sorting provide indispensable tools in PSC research and cell therapy.
Assuntos
Células-Tronco Pluripotentes Induzidas , Células-Tronco Pluripotentes , Teratoma , Animais , Humanos , Camundongos , Citometria de Fluxo , Pesquisa Translacional Biomédica , Diferenciação Celular/fisiologia , Teratoma/metabolismo , BiologiaRESUMO
BACKGROUND: Extragonadal germ cell tumours (EGGCTs) originated in Shoulder are extremely rare, with 1 case described in the literature. We report a case of a patient with a primary Right Shoulder mixed EGGCT. CASE PRESENTATION: A 36-year-old male patient was hospitalized for 6 months due to progressive right shoulder swelling accompanied by pain. Subsequently, the right shoulder tumor was removed entirely. Gross pathological examination showed that the size of the tumor mass was about 14 × 10 × 6 cm.Mutations were observed in ENPEP (4q25), ZCCHC11, RREB1 (6p24.3), CKAP4 (12q23.3), and other genes were detected by whole exome sequencing. Histology revealed a mixed EGGCT of the Right Shoulder with immature teratoma and yolk sac tumour. The patient went through 6 cycles of chemotherapy. After 7 months of follow-up, the patient is recurrence. CONCLUSION: The primary MEGCT of the shoulder is an extremely rare condition. However, the recurrence and metastasis rates are high. Therefore, further research is necessary to determine this rare disease's genetic and clinical characteristics to develop an effective treatment plan.
Assuntos
Tumor do Seio Endodérmico , Neoplasias Embrionárias de Células Germinativas , Teratoma , Masculino , Humanos , Adulto , Ombro , Neoplasias Embrionárias de Células Germinativas/genética , MutaçãoRESUMO
Sacrococcygeal teratoma (SCT) occurs in approximately 1 per 20,000-40,000 births and is the most frequently encountered fetal teratoma, with 75% of cases observed in female fetuses. SCT can be detected on ultrasound as early as the first trimester, presenting as a large mass originating from the sacrococcygeal area, with or without an intrapelvic component. The prenatal course for most fetuses with SCT is generally uneventful, with only a few cases experiencing obstetric and fetal complications. We present the case of a 19-year-old woman who was in good health and had no relevant family or medical history. She was gravida 2 and para 1. During the first trimester scan, an examination revealed a heterogeneous mass in the presacral area with a predominantly multicystic appearance, measuring 12 mm in diameter. At 21+6 weeks of gestation, the Type 2 fetal SCT showed an increase in volume with the size of 49×37×36 mm and contiune to increase in size. The male fetus was delivered by elective Cesarean section at 38 weeks of gestation. The resection of the tumor and coccyx was performed when the newborn was 7 days old. The tumor measured 190×160×100 mm and weighed 1100 g. Pathological examination confirmed the diagnosis of a mature teratoma (Grade 0), and the resection margins were negative. Our case report highlights a fetus with a large and rapidly growing SCT, yet the outcome was excellent.