Female ; Humans ; Kidney ; pathology ; Kidney Neoplasms ; diagnosis ; Rhabdoid Tumor ; diagnosis

PURPOSE: To describe the CT and MR findings of primary malignant rhabdoid tumor (MRT) of the brain, which is a rare but very aggressive neoplasm in childhood. MATERIALS AND METHODS: Retrospectively, we evaluated the CT and MR findings of 5 patients of primary MRT of the brain with a review of clinical records. RESULTS: The primary MRTs of the brain were large (n = 4) with a tendency to be associated with necrosis, hemorrhage (n = 2) and calcification (n = 2). Solid components of the tumor showed increased attenuation on precontrast CT scan and iso- or slightly hyper-signal intensity on T2-weighted images probably due to hypercellularity. Solid components of the tumor were also well enhanced on contrast-enhanced CT scan (n = 5) and MRI (n = 2). In 1 case with intratumoral bleeding, MR findings were variable on T1-weighted and T2-weighted images. Intracranial and intraspinal metastasis were found in 2 cases on preoperative MR studies. Follow-up CT and MR studies showed recurrence of the tumor and/or leptomeningeal metastasis in 3 cases. CONCLUSIONS: Although CT and MR findings of primary MRT of the brain are nonspecific, a tendency toward large size, calcification and intratumoral bleeding may be attributed to CT and MR findings. The solid components of tumors could present hyperdense on precontrast CT scan and iso- or slightly hyper-signal intensity on T2-weighted MR image. Preoperative and follow-up MR studies are important to detect metastatic foci.
Adolescence ; Brain Neoplasms/pathology ; Brain Neoplasms/diagnosis* ; Child ; Child, Preschool ; Female ; Human ; Infant ; Magnetic Resonance Imaging* ; Male ; Retrospective Studies ; Rhabdoid Tumor/pathology ; Rhabdoid Tumor/diagnosis* ; Tomography, X-Ray Computed*

Rhabdoid tumors of the central nervous system are rare malignancies. Primary central nervous system atypical teratoid/rhabdoid tumors (ATT/RhTs) mostly occur during early childhood and are almost invariably fatal. These tumors show similar histological and radiological features to primitive neuroectodermal tumor-medulloblastoma (PNET-MB) but have different biological behaviors. We report a case of primary intracranial ATT/RhT in the posterior cranial fossa of a child. Preoperative radiological diagnosis was PNET-MB, but pathological diagnosis is ATT/ RhT. The case involved a 16-month-old baby boy who presented with severe headache, vomiting, and gait disturbance. He was treated by surgical resection, chemotherapy, and radiotherapy. Despite aggressive therapy, he died 19 months after diagnosis. Clinical, radiological, and histopathological features of primary intracranial ATT/RhT are discussed with a special emphasis on the differential diagnosis from PNET-MB.
Brain Neoplasms/*diagnosis/pathology ; Diagnosis, Differential ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Medulloblastoma/diagnosis ; Neuroectodermal Tumors, Primitive/diagnosis ; Rhabdoid Tumor/*diagnosis/pathology ; Teratoma/*diagnosis/pathology ; Tomography, X-Ray Computed

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

OBJECTIVETo discuss the clinicopathologic features of rhabdoid glioblastoma of the brain and its differential diagnoses.

METHODSA 10-year-old and a 45-year-old female both presented with gradually worsening headache, limbs twitch and blurred vision. MRI scan revealed a contrast enhancing tumor in the right temporal lobe and left cerebellum respectively. Both patients underwent tumor resection, followed by postoperative radiotherapy and chemotherapy.

RESULTSMicroscopic examination of both tumors showed rhabdoid tumor cells with an eccentric nuclei and eosinophilic cytoplasms. Both tumors had areas of classic glioblastoma with microvascular proliferation and necrosis. Immunohistochemical staining showed the rhabdoid tumor cells were positive for vimentin diffusely and GFAP, EMA, CK focally. Integrase interactor (INI-1) was expressed in most tumor cells, but IDH1 R132H was not detected in both tumors. Fluorescence in situ hybridization revealed 1p/19q co-deletion in one case. One patient was alive without tumor recurrence after 16 months follow-up, the other patient died of intraspinal tumor dissemination 9 months after surgery.

CONCLUSIONSRhabdoid glioblastoma is a rare glial cell tumor with specific rhabdoid tumor cells, a highly aggressive clinical course and poor prognosis. Combining histological features, a panel of selected immunostains including vimentin, GFAP, CK, EMA, SMA and INI-1 is helpful in making an accurate diagnosis for those diagnostically challenging cases with rhabdoid features in central nervous system.

Biomarkers, Tumor ; metabolism ; Brain Neoplasms ; pathology ; Child ; Diagnosis, Differential ; Female ; Glioblastoma ; pathology ; Humans ; In Situ Hybridization, Fluorescence ; Magnetic Resonance Imaging ; Middle Aged ; Necrosis ; Neoplasm Recurrence, Local ; Rhabdoid Tumor ; pathology ; Temporal Lobe ; pathology

OBJECTIVETo study the clinicopathologic features, immunohistochemical findings, diagnosis and differential diagnosis of atypical teratoid/rhabdoid tumors (AT/RT) of central nervous system in childhood.

METHODSThe clinicopathologic data, morphologic features and immunophenotypes were reviewed in 6 cases of AT/RT. EnVision method was applied. Antibodies include cytokeratin (CK), epithelial membrane antigen (EMA), vimentin, smooth muscle actin (SMA), muscle specific actin (MSA), glial fibrinary acid protein (GFAP), desmin, placental alkaline phosphatase (PLAP) and INI1.

RESULTSFive of the six cases of AT/RT occurred in infancy and early childhood. Histologically, the predominant component was rhabdoid cells. Cytoplasmic inclusions were present in all cases. Primitive neuroectodermal tumor (PNET) component was also identified in 5 of the 6 cases studied. Immunohistochemically, the tumor cells were positive for cytokeratin, epithelial membrane antigen and vimentin. The staining for INI1, desmin and PLAP was negative. Smooth muscle actin was expressed in 2 cases and glial fibrillary acidic protein in 5 cases. The proliferative index as demonstrated by Ki-67 staining was high.

CONCLUSIONSAT/RT is not a particularly uncommon malignancy in childhood. The histologic hallmark is the presence of rhabdoid cells with cytoplasmic inclusions. The tumor cells are positive for cytokeratin, epithelial membrane antigen and vimentin, and negative for INI1. Differential diagnosis includes PNET, medulloblastoma and medullomyoblastoma.

Brain Neoplasms ; metabolism ; pathology ; surgery ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Keratins ; metabolism ; Male ; Medulloblastoma ; metabolism ; pathology ; Mucin-1 ; metabolism ; Neuroectodermal Tumors, Primitive ; metabolism ; pathology ; Rhabdoid Tumor ; metabolism ; pathology ; surgery ; Teratoma ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

OBJECTIVETo study the clinicopathologic characteristics of extrarenal malignant rhabdoid tumor (E-MRT) with emphasis on diagnosis and differential diagnosis.

METHODSThe clinical and pathologic data of 8 E-MRT cases were reviewed. The outcome was analyzed.

RESULTSThere were four males and four females. The age at presentation ranged from 3 days to 8 years (mean, 2.6 years; median, 3 years). The tumors were located in the extremities (n = 1), head and neck (n = 2), trunk (n = 2), cervical cord (n = 1), liver (n = 1) and retroperitoneum (n = 1). Histologically, the tumors were composed of a diffuse proliferation of rounded or polygonal cells with eccentric nuclei, prominent nucleoli, and glassy eosinophilic cytoplasm containing hyaline-like inclusion bodies, arranged in sheets and nests. Cellular atypia was easily observed and mitotic activity was high. Necrotic and hemorrhagic areas were abundant. On immunohistochemistry, the tumor cells expressed vimentin and epithelial marker such as EMA, AE1/AE3, and CAM5.2. The absence of INI1 protein expression was a distinctive feature. Follow-up of all eight cases revealed five deaths in one year and the other three were disease-free at last follow-up of one month, three months and seven months.

CONCLUSIONSE-MRT is a rare and highly aggressive tumor of infancy and childhood. Recurrence and distant metastasis was common and the 5-year survival rate is low. Increased awareness of the clinocopathologic features and immunophenotypes of E-MRT is helpful for correct diagnosis and effective treatment.

Child ; Child, Preschool ; Diagnosis, Differential ; Extremities ; Female ; Head and Neck Neoplasms ; metabolism ; pathology ; Humans ; Immunohistochemistry ; Infant ; Infant, Newborn ; Male ; Neoplasm Recurrence, Local ; Retroperitoneal Neoplasms ; metabolism ; pathology ; Rhabdoid Tumor ; metabolism ; pathology ; Treatment Outcome ; Vimentin ; metabolism

Adult ; Diagnosis, Differential ; Female ; Humans ; Keratins ; metabolism ; Lymphatic Metastasis ; Mucin-1 ; metabolism ; Rectal Neoplasms ; metabolism ; pathology ; surgery ; Rhabdoid Tumor ; metabolism ; pathology ; surgery ; Sarcoma ; metabolism ; pathology ; Synaptophysin ; metabolism ; Vimentin ; metabolism ; Young Adult

Diagnosis, Differential ; Hemangiopericytoma ; metabolism ; pathology ; Hemangiosarcoma ; metabolism ; pathology ; Histiocytoma, Malignant Fibrous ; metabolism ; pathology ; Humans ; Immunohistochemistry ; Leiomyosarcoma ; metabolism ; pathology ; Nerve Sheath Neoplasms ; metabolism ; pathology ; Neuroectodermal Tumors, Primitive ; metabolism ; pathology ; Rhabdoid Tumor ; metabolism ; pathology ; Rhabdomyosarcoma ; metabolism ; pathology ; Soft Tissue Neoplasms ; metabolism ; pathology ; Urinary Bladder ; metabolism ; pathology

Actins ; metabolism ; Calcium-Binding Proteins ; metabolism ; Calmodulin-Binding Proteins ; metabolism ; Desmin ; metabolism ; Diagnosis, Differential ; Female ; Humans ; Hysterectomy ; Leiomyoma, Epithelioid ; metabolism ; pathology ; Leiomyomatosis ; metabolism ; pathology ; surgery ; Leiomyosarcoma ; pathology ; Microfilament Proteins ; metabolism ; Middle Aged ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism ; Rhabdoid Tumor ; metabolism ; pathology ; surgery ; Sarcoma, Endometrial Stromal ; metabolism ; pathology ; Uterine Neoplasms ; metabolism ; pathology ; surgery ; Vascular Neoplasms ; metabolism ; pathology ; surgery ; Veins ; pathology ; Vimentin ; metabolism