[Multiple primary tumors in children: a clinicopathological analysis of four cases].

Objective: To investigate the clinicopathological features of children with metachronous or synchronous primary tumors and to identify related genetic tumor syndromes. Methods: The clinicopathological data of 4 children with multiple primary tumors diagnosed in the Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China from 2011 to 2023 were collected. The histological, immunophenotypic and molecular characteristics were examined using H&E staining, immunohistochemical staining, PCR, Sanger sequencing and next-generation sequencing (NGS). The patients were followed up. Results: Case 1 was an 8-year-old boy with the adrenal cortical carcinoma, and 5 years later a poorly differentiated gastric adenocarcinoma was detected. Case 2 was a 2-year-old boy, presented with a left ventricular choroid plexus carcinoma, and a hepatoblastoma was detected 8 months later. Case 3 was a 9-month-old girl, diagnosed with renal rhabdoid tumor first and intracranial atypical teratoid/rhabdoid tumor (AT/RT) 3 months later. Case 4 was a 7-year-old boy and had a sigmoid colon adenocarcinoma 3 years after the diagnosis of a glioblastoma. The morphology and immunohistochemical features of the metachronous or synchronous primary tumors in the 4 cases were similar to the corresponding symptom-presenting/first-diagnosed tumors. No characteristic germ line mutations were detected in cases 1 and 2 by relevant molecular detection, and the rhabdoid tumor predisposition syndrome was confirmed in case 3 using NGS. Case 4 was clearly related to constitutional mismatch repair deficiency as shown by the molecular testing and clinical features. Conclusions: Childhood multiple primary tumors are a rare disease with histological morphology and immunophenotype similar to the symptom-presenting tumors. They are either sporadic or associated with a genetic (tumor) syndrome. The development of both tumors can occur simultaneously (synchronously) or at different times (metachronously). Early identification of the children associated with genetic tumor syndromes can facilitate routine tumor screening and early treatment.

Ovarian teratoma in a Swiss mountain dog.

A Swiss mountain dog, ~3 y old, was brought to a veterinary clinic because of a progressive enlargement of the abdomen. Upon clinical examination, a large mass was detected. After surgical extraction, the mass was confirmed to be a large ovarian teratoma. The weight of the tumor was > 16% of the dog's overall body weight. The dog recovered fully after surgery. The observations from this case suggest that, although teratomas are rare, prompt and accurate diagnosis is necessary to prevent further growth of these masses and to ensure positive outcomes.

Tératome ovarien chez un chien de montage suisse. Un chien de montagne suisse âgé d'environ 3 ans a été présenté dans une clinique vétérinaire en raison d'une augmentation de volume progressive de l'abdomen. Lors de l'examen clinique, une grosse masse a été détectée. À la suite du retrait chirurgical, la masse a été confirmée comme étant un large tératome ovarien. Le poids de la masse tumorale était > 16 % du poids total du chien. Le chien a récupéré complètement après la chirurgie. Les observations à partir de ce cas suggèrent, bien que les tératomes soient rares, un diagnostic rapide et exact est nécessaire pour prévenir une croissance ultérieure de ces masses et assurer une issue positive.(Traduit par Dr Serge Messier).

Large congenital cervical mass in a neonate: prenatal diagnosis and postnatal management of teratoma: a case report.

INTRODUCTION: Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. CASE PRESENTATION: The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress. Imaging confirmed a cystic mass compressing the trachea, ruling out cystic hygroma. Surgical resection on postnatal day 17 revealed a 10 cm × 10 cm solid cystic structure, histologically identified as an immature teratoma. CONCLUSION: Despite risks of poor fetal and postnatal outcome from large cervical teratomas, early surgical resection after airway stabilization can result in recovery. Proper multidisciplinary management of respiratory distress from such tumors is paramount.

Mature cystic teratoma with co-existent mucinous cystadenocarcinoma: describing a diagnostic challenge-a case report.

BACKGROUND: Mature cystic teratoma co-existing with a mucinous cystadenocarcinoma is a rare tumor that few cases have been reported until now. In these cases, either a benign teratoma is malignantly transformed into adenocarcinoma or a collision tumor is formed between a mature cystic teratoma and a mucinous tumor, which is either primarily originated from epithelial-stromal surface of the ovary, or secondary to a primary gastrointestinal tract tumor. The significance of individualizing the two tumors has a remarkable effect on further therapeutic management. CASE PRESENTATION: In this case, a mature cystic teratoma is co-existed with a mucinous cystadenocarcinoma in the same ovary in a 33-year-old Iranian female. Computed Tomography (CT) Scan with additional contrast of the left ovarian mass suggested a teratoma, whereas examination of resected ovarian mass reported an adenocarcinoma with a cystic teratoma. A dermoid cyst with another multi-septate cystic lesion including mucoid material was revealed in the gross examination of the surgical specimen. Histopathological examination revealed a mature cystic teratoma in association with a well-differentiated mucinous cystadenocarcinoma. The latter showed a CK7-/CK20 + immune profile. Due to the lack of clinical, radiological, and biochemical discoveries attributed to a primary lower gastrointestinal tract tumor, the immune profile proposed the chance of adenocarcinomatous transformation of a benign teratoma. CONCLUSIONS: This case shows the significance of large sampling, precise recording of the gross aspects, histopathological examination, immunohistochemical analysis, and the help of radiological and clinical results to correctly diagnose uncommon tumors.

Rapid Progression of Malignant Peritoneal Mesothelioma Mimicking a Postoperative Complication in a Young Woman: A Case Report.

BACKGROUND Malignant peritoneal mesothelioma is a rare disease with a poor prognosis that often presents with vague symptoms and inconclusive laboratory test results. Causes include industrial pollutants, primarily asbestos, and certain genetic mutations, such as BAP1. Due to the nonspecific symptoms, it is often incidentally diagnosed during or after other surgical procedures. CASE REPORT A 35-year-old healthy woman underwent an uncomplicated laparoscopic left salpingo-oophorectomy for a symptomatic large ovarian mature cystic teratoma. She subsequently presented with late-onset postoperative fever, leukocytosis, and multiple intra-abdominal masses. Following an exploratory laparotomy, extensive infectious disease evaluation, and multiple biopsies requiring interdisciplinary collaboration, malignant peritoneal mesothelioma was diagnosed by positive histologic staining of an omental biopsy for D2-40 and CK5/6. This first specimen was positive for BAP1, with the second, a liver biopsy, testing negative for BAP1. The tumor cell testing was also notable for mutations in NF2, MLL2, and ARID1A, and the hereditary cancer genetic testing was overall unremarkable. Her disease progressed rapidly, and she died 6 months after her initial procedure. CONCLUSIONS This case of rapidly developing malignant peritoneal mesothelioma following surgical management of an ovarian mature teratoma highlights the complexity in diagnosing a rare disease that presents with nonspecific symptoms in an otherwise young and healthy woman. The rapid disease course was likely accelerated by expansive intraperitoneal spread and multiple somatic oncogenic mutations in BAP1, NF2, MLL2, and ARID1A. Gynecologists should keep a broad differential for postoperative complications, as occult malignancies can present with symptoms that mimic postoperative complications.

Laparoscopic transabdominal-sacrococcygeal approach for resection of Altman type III sacrococcygeal teratoma in adult women: A case report.

INTRODUCTION: Adult sacrococcygeal teratoma (SCT) is a rare disease that is not easily detected or easily missed, and its treatment is based on surgery, including transabdominal, transsacral, or a combination of both, but there are no clear guidelines for diagnosis and treatment. We share a case of Altman type III SCT in order to provide more reference protocols for the diagnosis and treatment of adult SCT, and more importantly to increase our understanding of different types of SCT cases in adults. PATIENT CONCERNS: Our patient was a 31-year-old adult woman who underwent complete surgical resection of a cystic mature teratoma of the right ovary 8 years ago and is currently 13 months postpartum without menstruation, usually with a feeling of anal bulge, with symptoms such as constipation. DIAGNOSIS: We diagnosed SCT by vaginal ultrasonography, computed tomography and magnetic resonance imaging (MRI); benign tumors were considered in the results of serum tumor markers. INTERVENTIONS: We chose the surgical approach of laparoscopic transabdominal-sacrococcygeal approach to completely remove the patient SCT and coccyx. OUTCOMES: The location of SCT is concealed and the clinical symptoms are not obvious. Vaginal ultrasonography, CT and MRI can not only improve the diagnostic rate of SCT, but also understand the size and mass of SCT, providing an exact basis for clinicians to select the laparoscopic transabdominal-sacrococcygeal approach. CONCLUSION: Our sharing increases the reports of rare cases of teratoma with the same histological findings in different organ tissues of the same patient at different times, whether this occurs incidentally requires more case reports and further basic research; in addition, the laparoscopic transabdominal-sacrococcygeal approach is a safe and effective surgical approach for the treatment of Altman type III SCT in adults; finally, this case reminds us that SCT may not affect pregnancy and pregnancy outcomes and provides a reference for the selection of interventions for SCT with pregnancy.

A Machine Learning Model to Predict the Histology of Retroperitoneal Lymph Node Dissection Specimens.

BACKGROUND/AIM: While post-chemotherapy retroperitoneal lymph node dissection (PC-RPLND) benefits patients with teratoma or viable germ cell tumors (GCT), it becomes overtreatment if necrosis is detected in PC-RPLND specimens. Serum microRNA-371a-3p correctly predicts residual viable GCT with 100% sensitivity; however, prediction of residual teratoma in PC-RPLND specimens using current modalities remains difficult. Therefore, we developed a machine learning model using CT imaging and clinical variables to predict the presence of residual teratoma in PC-RPLND specimens. PATIENTS AND METHODS: This study included 58 patients who underwent PC-RPLND between 2005 and 2019 at the University of Tsukuba Hospital. On CT imaging, 155 lymph nodes were identified as regions of interest (ROIs). The ResNet50 algorithm and/or Support Vector Machine (SVM) classification were applied and a nested, 3-fold cross-validation protocol was used to determine classifier accuracy. RESULTS: PC-RPLND specimen analysis revealed 35 patients with necrosis and 23 patients with residual teratoma, while histology of 155 total ROIs showed necrosis in 84 ROIs and teratoma in 71 ROIs. The ResNet50 algorithm, using CT imaging, achieved a diagnostic accuracy of 80.0%, corresponding to a sensitivity of 67.3%, a specificity of 90.5%, and an AUC of 0.84, whereas SVM classification using clinical variables achieved a diagnostic accuracy of 74.8%, corresponding to a sensitivity of 59.0%, a specificity of 88.1%, and an AUC of 0.84. CONCLUSION: Our machine learning models reliably distinguish between necrosis and residual teratoma in clinical PC-RPLND specimens.

Fertility-sparing approach in concurrent gliomatosis peritonei and growing teratoma syndrome in a young woman.

Gliomatosis peritonei (GP) and Growing Teratoma Syndrome (GTS) are rare and clinically significant conditions often associated with ovarian teratomas. GP involves the development of benign glial implants on the peritoneal surface, while GTS is characterised by the growth of benign, yet enlarging peritoneal implants following chemotherapy for malignant germ cell tumours. These implants are typically histologically mature teratomas devoid of malignancy. Our report documents a unique case where both GP and GTS manifested in a patient undergoing treatment for an immature ovarian teratoma. This dual occurrence is scarcely reported in the existing literature. The patient, a nulliparous woman in her 20s, developed a tumour indicative of GTS immediately after completing three cycles of bleomycin, etoposide and cisplatin therapy. This chemotherapy regimen followed fertility-sparing surgery for a stage IIIb ovarian immature teratoma. Given that total tumour resection is pivotal in positively influencing the prognosis of GTS, early minimally invasive surgical intervention before significant tumour growth is essential. This approach is particularly crucial considering that ovarian germ cell tumours are commonly present in younger patients, necessitating a focus on fertility preservation in most cases.

Clinical features and treatment options for pediatric adrenal incidentalomas: a retrospective single center study.

BACKGROUND: The aim of this study was to investigate the clinical features and treatment options for pediatric adrenal incidentalomas(AIs) to guide the diagnosis and treatment of these tumors. METHODS: The clinical data of AI patients admitted to our hospital between December 2016 and December 2022 were collected and retrospectively analyzed. All patients were divided into neonatal and nonneonatal groups according to their age at the time of the initial consultation. RESULTS: In the neonatal group, 13 patients were observed and followed up, and the masses completely disappeared in 8 patients and were significantly reduced in size in 5 patients compared with the previous findings. Four patients ultimately underwent surgery, and the postoperative pathological diagnosis was neuroblastoma in three patients and teratoma in one patient. In the nonneonatal group, there were 18 cases of benign tumors, including 9 cases of ganglioneuroma, 2 cases of adrenocortical adenoma, 2 cases of adrenal cyst, 2 cases of teratoma, 1 case of pheochromocytoma, 1 case of nerve sheath tumor, and 1 case of adrenal hemorrhage; and 20 cases of malignant tumors, including 10 cases of neuroblastoma, 9 cases of ganglioneuroblastoma, and 1 case of adrenocortical carcinoma. CONCLUSIONS: Neuroblastoma is the most common type of nonneonatal AI, and detailed laboratory investigations and imaging studies are recommended for aggressive evaluation and treatment in this population. The rate of spontaneous regression of AI is high in neonates, and close observation is feasible if the tumor is small, confined to the adrenal gland and has no distant metastasis.

Ruptured Ovarian Cystic Teratoma: A Rare Diagnosis, Easily to Be Confused with Peritoneal Carcinomatosis.

Although ovarian cystic teratoma is the most common ovarian tumor, complications are quite rare. However, it is important to be recognized by the radiologist in order to avoid inaccurately diagnosing them as malignant lesions. This case report describes a 61-year-old postmenopausal woman, who presented to the emergency room with abdominal pain following a minor blunt abdominal trauma. In this context, a CT scan was performed, which showed the presence of round, hypodense masses randomly distributed in the peritoneum, with coexisting ascites in moderate amount; ovarian carcinoma with peritoneal carcinomatosis was suspected. The patient was hospitalized and an MRI of the abdomen and pelvis was recommended for a more detailed lesion characterization. Following this examination, the patient was diagnosed with mature cystic ovarian teratoma complicated by rupture. Surgery was performed, and the outcome was favorable. The cases of ruptured cystic teratomas are rare, and to our knowledge, this is the first occurrence described in literature. Special attention must be paid when confronting with such a case in medical practice, since it can easily misdiagnosed as peritoneal carcinomatosis.

Simultaneous spine extradural and intradural teratomas in a pediatric patient: A rare presentation with insights in the flawed migration of germ cells theory.

Spinal teratomas are infrequent lesions in the pediatric population. These lesions can be extradural, intradural or intramedullary. We present a case of an 8-month-old boy that was assessed for underdevelopment of motor milestones. The neurologic examination revealed hyporeflexia, decreased sensation and flaccid paraplegia. MRI of the spine revealed two simultaneous and independent lesions in the extradural and intradural compartment. A laminectomy was performed for the T4-T7 vertebrae with total resection of both lesions. The histopathological analysis confirmed both lesions to be mature cystic teratomas. At the 1-year follow-up, the patient remained with no recovery of neurological function. A debate takes place regarding the etiology of formation of these lesions in the spine. The simultaneous presentation of two independent lesions in this patient could contribute to define the flawed migration of germ cells theory as the etiology for formation of teratomatous lesions in the spine.

Squamous cell carcinoma malignant transformation in mature cystic teratoma of the ovary: a case report and review of the literature.

BACKGROUND: Mature cystic teratoma of the ovary is classified among the benign ovarian germ cell neoplasms, and its malignant transformation occurs very rarely (in about 2%). As a result of nonspecific signs and symptoms, preoperative diagnosis of theses malignancies is a challenge to clinicians, resulting in delayed diagnosis (in advanced stages) and poor outcomes. CASE PRESENTATION: We report the case of a 43-year-old Iranian woman with progressive distension of the abdomen and hypogastric pain, who was diagnosed with squamous cell carcinoma transformation in a mature cystic teratoma of the ovary confirmed by histopathology examination. Total abdominal hysterectomy, bilateral salpingooophorectomy, and comprehensive staging surgery were performed for the patient, and she was scheduled for chemotherapy after the surgery. She responded well to the treatment and is currently continuing her chemotherapy process. CONCLUSION: There are a great number of reports in the literature regarding mature cystic teratoma of the ovary transformation into malignancy, so these neoplasms must be considered as a possible differential diagnosis and should be evaluated in older individuals with abdominal pain and palpable mass, or those with considerable tumor diameter and raised serum tumor markers.

Mature solid teratoma of the uterine cervix: A rare case report and review of the literature.

RATIONALE: Most of the mature teratomas are found in the ovaries. Extragonadal teratomas are extremely rare. To date, there are only a handful of reports of uterine cervical teratomas documented in the English literature. PATIENT CONCERNS: Herein we describe a rare case of a 40-year-old patient who was presented to our hospital for a cervical polypoid mass, which was finally confirmed to be mature solid teratoma in uterine cervix. DIAGNOSES: Histological examination of the polypoid mass was found to consist of ciliated pseudostratified columnar respiratory epithelium, intestinal epithelium and smooth muscle tissue, adipose tissue and mature glial component, epidermis, and skin adnexa. Meanwhile, no history of abortion, dilatation, and curettage was present in this patient, so implantation of fetal tissue was excluded. Therefore, we make a diagnosis of uterine cervical mature teratoma. INTERVENTIONS: Tumorectomy was performed after discovering the cervical polypoid mass. OUTCOMES: The patient had been followed-up for next 3 months after surgery and no recurrence was documented until now. LESSONS: Though teratomas of the uterine cervix are extremely rare, more attention should be paid on this rare but possible tumor for appropriate treatment in these patients.

Gastric Teratoma in Children: A Report of Two Cases and Review of Literature.

ABSTRACT: Gastric teratomas are very rare tumours. They present with upper abdomen distension which can easily be confused with other common conditions with mass per abdomen in the paediatric age group. Surgical excision is curative for gastric teratomas. The diagnosis is confirmed by radiological evaluation followed by histopathological analysis of excised specimen. We are reporting two such cases of gastric teratomas who presented with complaints of upper abdomen distension. They were evaluated with radiological imaging and successfully managed by surgical excision.

Congenital brain tumour in a neonate: a therapeutic challenge.

A term neonate with history of ventriculomegaly in the fetal period was diagnosed with a central nervous system tumour after radiological investigations. It was confirmed as an immature teratoma after histopathological examination. He underwent left frontal craniotomy with tumour excision. Intraoperatively, massive haemorrhage (venous bleed) occurred due to the high vascularity of the tumour and led to haemodynamic instability. A massive transfusion protocol was initiated. Despite multiple transfusions and shock management, he succumbed at 2 weeks of life. This case report highlights the importance of antenatal diagnosis and fetal MRI in prognostication and also the possible role of neoadjuvant chemotherapy in reducing tumour vascularity and, hence, bleeding.

A rare case of tumor-to-tumor metastasis from thymic carcinoma to an ovarian mature teratoma.

Metastasis from one neoplasm to another is referred to as tumor-to-tumor metastasis (TTM). TTM is rarely observed. Here, we present a patient with TTM from a thymic carcinoma to an ovarian mature teratoma. A 25-year-old woman, diagnosed with unresectable thymic carcinoma, presented with a cyst with a solid tumor component in her right ovary. Laparoscopic cystectomy of the right ovary revealed that the solid tumor was a distant metastasis of the thymic carcinoma in an ovarian mature teratoma. The possibility of malignant transformation of the ovarian mature teratoma was ruled out, enabling accurate staging of the thymic carcinoma. This case emphasizes the need for clinicians to consider TTM and the importance of pathological confirmation of TTM when investigating potential distant metastases.

Astrocitoma de bajo grado en un teratoma retroperitoneal: reporte de caso / Low-grade astrocytoma within a retroperitoneal teratoma: Case report

Los teratomas son neoplasias que se originan de las células germinales, algunos pueden sufrir una transformación maligna. La Organización Mundial de la Salud (OMS) los clasificó como teratomas con malignidad de tipo somático, los cuales son poco comunes, siendo los sarcomas el tipo histológico con mayor incidencia. Es importante diferenciar esté tipo de tumores ya que influye en el pronóstico y en la supervivencia del paciente. A continuación se presenta el caso de un masculino de 5 meses de edad, que inició su padecimiento al mes de vida con la presencia de estreñimiento y aumento del perímetro abdominal, los estudios de imagen revelaron una lesión abdominal. Se inició tratamiento con quimioterapia y se realizó tumorectomía retroperitoneal. El reporte histopatológico reportó teratoma inmaduro grado I con foco de tejido nervioso que muestra características de astrocitoma de bajo grado. (AU)

Teratomas are neoplasms originate from germ cells and can undergo malignant transformation, the World Health Organization (WHO) classified them as teratoma with somatic-type malignancy which is uncommon and sarcomas are the histological type with the highest incidence. It is important to identify this type of tumors because influences the prognosis and survival of the patient. We present the case of a 5-month-old male, who began his condition at one month-old with constipation and increase of the abdominal circumference, imaging studies revealed an abdominal lesion, he was treated with chemotherapy and surgery. The histopathological report was immature teratoma, grade 1, with a focus of nervous tissue showing characteristics of low-grade astrocytoma. (AU)

Astrocitoma de bajo grado en un teratoma retroperitoneal: reporte de caso / Low-grade astrocytoma within a retroperitoneal teratoma: Case report

Los teratomas son neoplasias que se originan de las células germinales, algunos pueden sufrir una transformación maligna. La Organización Mundial de la Salud (OMS) los clasificó como teratomas con malignidad de tipo somático, los cuales son poco comunes, siendo los sarcomas el tipo histológico con mayor incidencia. Es importante diferenciar esté tipo de tumores ya que influye en el pronóstico y en la supervivencia del paciente. A continuación se presenta el caso de un masculino de 5 meses de edad, que inició su padecimiento al mes de vida con la presencia de estreñimiento y aumento del perímetro abdominal, los estudios de imagen revelaron una lesión abdominal. Se inició tratamiento con quimioterapia y se realizó tumorectomía retroperitoneal. El reporte histopatológico reportó teratoma inmaduro grado I con foco de tejido nervioso que muestra características de astrocitoma de bajo grado. (AU)

Teratomas are neoplasms originate from germ cells and can undergo malignant transformation, the World Health Organization (WHO) classified them as teratoma with somatic-type malignancy which is uncommon and sarcomas are the histological type with the highest incidence. It is important to identify this type of tumors because influences the prognosis and survival of the patient. We present the case of a 5-month-old male, who began his condition at one month-old with constipation and increase of the abdominal circumference, imaging studies revealed an abdominal lesion, he was treated with chemotherapy and surgery. The histopathological report was immature teratoma, grade 1, with a focus of nervous tissue showing characteristics of low-grade astrocytoma. (AU)