A Malignant rhabdoid tumor (MRT) arising in the right temporoparietal lobe of a 9-year-old boy is described along with the results of an immunohistochemical study. The patient initially sought medical attention for a ptosis and right sided headache. The child underwent a subtotal resection of the tumor, followed by radiotherapy and systemic chemotherapy, but died three years after surgery. A MRT, a primary neoplasm of the central nervous system (CNS), is an entity of unknown histogenesis with a dismal prognosis, which only occurs in early childhood. Histologically similar tumors with more varied morphological features have been designated as an atypical teratoid/rhabdoid tumor. However, a classical MRT is extremely rare in the CNS and our case represents a classical CNS MRT.
Brain Neoplasms/therapy ; Brain Neoplasms/pathology ; Brain Neoplasms/metabolism* ; Case Report ; Child ; Glial Fibrillary Acidic Protein/analysis ; Human ; Immunohistochemistry ; Male ; Rhabdoid Tumor/therapy ; Rhabdoid Tumor/pathology ; Rhabdoid Tumor/metabolism* ; Vimentin/analysis

We report a very rare case of sellar and suprasellar atypical teratoid rhabdoid tumor (ATRT) in a 42-year-old female patient. The tumor was removed subtotally with a transsphenoidal approach. Histopathologic study showed rhabdoid cells with prominent nucleoli and abundant cytoplasm. Immunohistochemistry for INI1 was completely negative in the tumor cells, consistent with ATRT. After surgery, she received radiotherapy including spinal irradiation with proton beam therapy and subsequent chemotherapy, with no evidence of recurrence for more than 2 years. Up to date, this is the 8th case of an adult-onset ATRT in the sellar or suprasellar region. Despite its rarity, ATRTs should be considered in the differential diagnosis of an unclear malignant sellar or suprasellar lesion in adult patients and the treatment strategies for adult ATRT patients could be differentiated from those of pediatric ATRT patients.
Adult ; Cytoplasm ; Diagnosis, Differential ; Drug Therapy ; Female ; Humans ; Immunohistochemistry ; Proton Therapy ; Radiotherapy ; Recurrence ; Rhabdoid Tumor*

Rhabdoid colonic tumors are very rare lesions with just a few publications describing such neoplasms. Even more unusual for these lesions are their primary rectal locations, with only two brief case reports having been published on that subject to date. We present a case of a composite rhabdoid rectal carcinoma in a 49-year-old male. The tumor behaved very aggressively, with rapid patient demise despite radical surgery and intensive postoperative chemotherapy (FOLFIRI [folinic acid {leucovorin}, fluorouracil {5-fluorouracil}, and irinotecan] and FOLFOX4 [folinic acid {leucovorin}, fluorouraci {5-fluorouracil}, and oxaliplatin]). Pathologic examination was supportive of a rhabdoid carcinoma, with a compatible immunohistochemical profile, demonstrating synchronous expression of vimentin and epithelial markers in the tumor cells. In addition, BRAF V600E gene mutation, together with a wild-type KRAS gene, was identified, and no evidence of microsatellite instability based on MLH1, MSH2, MSH6, and PMS2 immunophenotypes, i.e., no loss of expression for all 4 markers, was observed. Our reported case confirms previously published observations of the clinical aggressiveness and the poor therapeutic response for rhabdoid tumors.
Colon ; Drug Therapy ; Fluorouracil ; Humans ; Male ; Microsatellite Instability ; Middle Aged ; Rectum* ; Rhabdoid Tumor ; Vimentin

Contrary to metastatic tumors of the omentum, primary tumors of the omentum are very rare. A 10-year-old girl presented with low abdominal pain. Imaging studies showed a multiseptated hemorrhagic tumor. The mass from the omentum was removed completely and confirmed as a malignant rhabdoid tumor. Despite aggressive chemotherapy, she died after 9 months due to disease progression. We report one case of primary malignant rhabdoid tumor of the omentum for the first time.
Abdominal Pain ; Child* ; Disease Progression ; Drug Therapy ; Female* ; Humans ; Omentum* ; Rhabdoid Tumor*

Malignant Rhabdoid tumor is a rare malignant neoplasm and is morphologically similar to rhabdomyosarcoma, but is different immunohistochemically. Most malignant rhabdoid tumors occur in the kidney of infants, and are rarely reported at extrarenal sites. Since Frierson and his collagues first described the malignant extrarenal rhabdoid tumor(MRT) in children in 1985, it has rarely been reported. The neoplasm is histologically and immunohistochemically identical to a renal malignant rhabdoid tumor. There have been no previous reports of this neoplasm in Korea. An MRT of the sacroiliac bone in a 11-year-old girl is described. Five months after the initial presentation, the patient is still alive with partial response to combination chemotherapy and radiotherapy. The authors review previous reports of extrarenal MRT, and discuss the pathologic characteristics, differential diagnosis, and treatment of this rare neoplasm.
Child ; Diagnosis, Differential ; Drug Therapy, Combination ; Female ; Humans ; Infant ; Kidney ; Korea ; Radiotherapy ; Rhabdoid Tumor* ; Rhabdomyosarcoma

A 9 year old boy presented with painless gross hematuria 1 month prior to admission. Ultrasound and CT scan of the whole abdomen with contrast showed a 2.6cm x 2.0cm papillary mass on the right posterolateral wall. Initial transurethral biopsy result showed negative for malignancy, fibrovascular tissue with mild chronic and acute inflammation. On repeat cystoscopy, a 4cm x 4cm pendunculated lobulated mass was located posterolateral encroaching on the right ureteral orifice. Subsequently a partial cystectomy with distal ureterectomy, right; right-to-left transureteroureterostomy with DJ stent insertion were done. Microscopic and immunostaining results support a diagnosis of rhabdoid tumor. Adjuvant chemotherapy and immunotherapy was given. On follow up, there was no evidence of recurrence.

This case emphasizes the need to follow aggressively children with gross hematuria. Biopsy should include deep biopsies as rhabdoid tumors are infiltrating tumors. Coordination with the pathologist is of extreme importance since special stainings are needed for confirmation.

Objective: To investigate the clinical characteristics, treatment and prognosis of malignant rhabdoid tumor (MRT) in children. Methods: Clinical data total of 18 children with MRT treated in the Department of Hematology and Oncology, Children's Hospital, the First Affiliated Hospital of Zhengzhou University between June 2015 to June 2021 were analyzed retrospectively. The patients were grouped according to age, gender, tumor type, clinical stage and other factors.Progression free survival (PFS) and overall survival (OS) were calculated by Kaplan-Meier method, survival differences among different groups were compared by Log-rank test, and prognostic factors were analyzed by Cox regression model. Results: Among the 18 patients, there were 5 males and 13 females. The age of disease onset was 30.5 (12.0, 75.0) months, the tumor diameter was (80±29) mm, and no integrase interactor 1 (INI-1) expression was detected by immunohistochemistry. There were 7 cases of malignant rhabdoid tumor of the kidney (MRTK), 6 cases of atypical teratoid rhabdoid tumor (ATRT) and 5 cases of extrarenal extracranial rhabdoid tumor (EERT). At the time of early diagnosis, 12 patients were clinically stage Ⅲ-Ⅳ, 11 patients had local or distant metastasis, and 4 patients had metastasis during treatment. Surgical excision is the preferred treatment. There were 3 cases with preoperative puncture biopsy, 13 cases with complete resection, 4 cases with partial resection, and 1 case without operation. Thirteen patients were treated with the domestic conventional chemotherapy regimen for Wilms' tumor, medulloblastoma and rhabdomyosarcoma, and 5 patients were treated with the international conventional chemotherapy regimen. Nine patients received radiotherapy, including 1 case of MRTK, 4 cases of ATRT and 4 cases of EERT. By the end of follow-up in January 2022, 7 patients survived and 11 patients died. The 3-year PFS and OS rates were (8±8) % and (14±12) %. Log-rank test showed that the 5-year OS of EERT group was higher than ATRT and MRTK groups (χ²=16.31, P<0.001), the tumor diameter <80 mm group was higher than that of the ≥80 mm group (χ²=4.49, P=0.034), and the radiotherapy group was higher than no radiotherapy group (χ²=3.97, P=0.046). The differences were statistically significant. There was no significant difference in the influence of tumor type, age, tumor diameter, radiotherapy and chemotherapy on OS by Cox regression model (all P>0.05). Log-rank test showed that the 3-year PFS of EERT group was higher than ATRT and MRTK groups (χ²=11.14, P=0.004),>3 years group was higher than ≤3 years group (χ²=10.10, P=0.001), the differences were statistically significant. Tumor type, clinical stage, tumor diameter, age, tumor rupture and radiotherapy were included in the Cox regression model, and the results showed that clinical stage (HR=0.49, 95%CI 0.26-0.94, P=0.031), tumor diameter (HR=8.67, 95%CI 1.84-40.89, P=0.006), age (HR=0.01, 95%CI 0.00-0.15, P=0.001) had statistical significance on PFS. Conclusions: MRT is one of the most aggressive and fatal cancers in early childhood and infancy. There is no standard treatment and the prognosis is extremely poor. Clinical stage, tumor size and age are risk factors for disease progression.
Child ; Child, Preschool ; Female ; Humans ; Kidney Neoplasms ; Male ; Prognosis ; Retrospective Studies ; Rhabdoid Tumor/therapy* ; Rhabdomyosarcoma, Embryonal ; Survival Rate

Herein, we report a neonatal case of an extra-renal non-cranial malignant rhabdoid tumor with simultaneous tumor in the adrenal gland, which was initially diagnosed with hemangioma. The patient showed a soft tissue mass on the chin at birth which grew rapidly with invasion of lower lip. Despite multimodal treatment including surgery, chemotherapy and high dose chemotherapy followed by autologous stem cell transplantation, the patient died of disease progression at the age of 20 months finally. The clinical presentation, diagnosis, pathology, treatment, and prognosis for this case are discussed.
Adrenal Glands ; Chin ; Combined Modality Therapy ; Diagnosis ; Disease Progression ; Drug Therapy ; Hemangioma ; Humans ; Infant, Newborn ; Lip ; Neoplasm Metastasis ; Parturition ; Pathology ; Prognosis ; Rhabdoid Tumor ; Stem Cell Transplantation

Central nervous system atypical teratoid/rhabdoid tumor(CNS rhabdoid tumor) is a rare malignancy of uncertain origin. It typically occurs in infants and young children and comprises only a small fraction of pediatrics CNS malignancies. The tumor contains a large spindled cell component as classical rhabdoid morphology and focal areas resembling primitive neuroectodermal tumor. The tumor is defined histopathologically by the presence of rhabdoid cells, but contains considerable heterogeneity of the cell type, including the frequent presence of primitive neuroectodermal tumor. The prognosis for children with CNS rhabdoid tumor is dismal. We experienced a case of a three-year-old female who had been transferred to our hospital for seizure and vomiting. She was diagnosed as CNS atypical teratoid/rhabdoid tumor by biopsy. In spite of surgery and intensive postoperative multi-agents chemotherapy, she developed a local recurrence around the operation site at six months after surgery. We present this case with a brief review of related literatures.
Biopsy ; Cellular Structures ; Central Nervous System* ; Child ; Drug Therapy ; Female ; Humans ; Infant ; Medulloblastoma* ; Neuroectodermal Tumors, Primitive ; Pediatrics ; Population Characteristics ; Prognosis ; Recurrence ; Rhabdoid Tumor ; Seizures ; Vomiting

BACKGROUND: Peripheral blood stem cell (PBSC) transplantation has been widely used to support the hematopoietic recovery after high dose chemotherapy in patients with advanced malignancies. The procedure of PBSC collection in pediatric patients is similar to that in adults, but needs the 'fine tuning' of the volume shift of each procedure and the technical factors to achieve specific target goals. This article provides our experience with fourteen collections of PBSC from five patients less than 25 kg in weight. METHODS: Patient's diagnoses were 2 stage IV neuroblastoma, 1 non-Hodgkin's lymphoma, 1 stage IV Ewing sarcoma, and 1 stage IV rhabdoid tumor of kidney. Their age ranged from 2 to 7 years old. Collections were performed using COBE Spectra or CS3000 plus that had been primed with leukoreduced, irradiated red blood cells. Patients underwent large volume leukapheresis. Radial artery was used as draw line and subclavian vein was used as return line. The blood to ACD ratio was 24:1 with 3000 units of heparin added to each 500 mL of ACD, in addition, heparin (1000 units) was added to collection bag when performed with COBE Spectra. Simultaneously, calcium chloride solution was dripped into an another venous line. During one course of large volume leukapheresis, about 5,000 mL of blood (>three total blood volume) were processed at a flow rate of 25~35 mL/min. RESULTS: The mean of total WBCs in collected components per procedure was 5.9+/-2.9x109 (3.0-10.5x109) with yield of 3.6+/-2.0x108 per kg of body weight. The mean of total CD34+ cells was 5.2+/-4.5x106 per kg (1.6-14.6x106/kg) for each collection. The patients tolerated well during the procedure without any apparent symptoms related to anemia or volume deficit or overload. CONCLUSION: In children weighing less than 25 kg, peripheral blood progenitor cell collection can be safely and efficiently performed with continuous flow blood cell separators, primed with red cells and additional heparin anticoagulation.
Adult ; Anemia ; Blood Cells ; Body Weight ; Calcium Chloride ; Child ; Diagnosis ; Drug Therapy ; Erythrocytes ; Heparin ; Humans ; Kidney ; Leukapheresis* ; Lymphoma, Non-Hodgkin ; Neuroblastoma ; Peripheral Blood Stem Cell Transplantation ; Radial Artery ; Rhabdoid Tumor ; Sarcoma, Ewing ; Stem Cells* ; Subclavian Vein