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Rhabdoid Tumor Predisposition Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Computed tomography (CT) imaging is considered the gold standard for radiologic examination of suspected malignant rhabdoid tumor of the kidney. CT findings that were examined in a series of eight tumors included location of tumor within the kidney, subcapsular hematoma, multiple tumor lobules, presence of calcification, enlarged vessels, vascular invasion, central tumor necrosis or hemorrhage, visibility of tumor margin, distant metastasis, and primary tumor size [25]. Of these, subcapsular hematoma and lobular appearance in a large centrally located heterogenous kidney mass containing calcifications was thought to be most consistent with rhabdoid tumor [25]. Since this study, other studies have proposed that there are no specific imaging findings for malignant rhabdoid tumor and that a series of findings must be taken into consideration [26].
Genetics of brain tumors
Published in J. K. Cowell, Molecular Genetics of Cancer, 2003
B.K. Ahmed Rasheed, Rodney N. Wiltshire, Sandra H. Bigner
Rhabdoid tumors occur in children and usually present as tumors in kidney or brain although capable of occurring in all locations of the body. In the brain these tumors may consist purely of rhabdoid cells or contain areas of rhabdoid cells adjacent to mesenchymal and epithelial tissue. Some regions of rhabdoid tumors may resemble PNET and are also designated as atypical teratoid tumors. These tumors commonly reside in the cerebellum, cerebrum, cerebellopontine angle and pineal gland. The rhabdoid tumors are extremely aggressive and usually fatal.
Atypical Teratoid / Rhabdoid Tumors – AT/RT
Published in David A. Walker, Giorgio Perilongo, Roger E. Taylor, Ian F. Pollack, Brain and Spinal Tumors of Childhood, 2020
Michael C. Frühwald, Jaclyn A. Biegel, Susan N. Chi
Typical clinical scenarios include: Prenatal detection of synchronous rhabdoid tumorsOnset during infancy or detection at birth. Patients present at a median age of 4–7 months (range: prenatally–60 months) compared to individuals with sporadic rhabdoid tumors (median age 13–30 months (range: age 1 day–228 months)50–53Synchronous, multifocal rhabdoid tumors. Individuals with underlying genetic predisposition have a higher incidence of multiple rhabdoid tumors.54 A total of 28% of patients in the European Rhabdoid (EU-RHAB) registry had synchronous tumors, eight had AT/RT and eMRT, four had AT/RT and RTK, and two had AT/RT, multiple eMRT, and RTKA family history of rhabdoid tumor, cribriform neuroepithelial tumor (CRINET), and/or distinct combinations of rhabdoid tumor with one of the following: schwannoma, malignant peripheral nerve sheath tumor, meningioma, or CRINET55Clinically aggressive rhabdoid tumor. Tumor progression at the time of follow-up was identified in 91% of individuals. Progression occurred while on chemotherapy in 58% of individuals49A rhabdoid tumor with syndromic features suggestive of 22q11.2 distal deletion syndrome (OMIM 611867).
Diverse outcomes in extra-cranial rhabdoid tumors: A single institute experience
Published in Pediatric Hematology and Oncology, 2022
Yoshiki Katsumi, Tomoko Iehara, Yasumichi Kuwahara, Kunihiko Tsuchiya, Eiichi Konishi, Hajime Hosoi
Rhabdoid tumors (RTs) are exceedingly rare and aggressive pediatric tumors that can originate from different tissues. More than 95% of RTs exhibit biallelic alteration of SMARCB1.1 Absence of SMARCB1 expression and either deletion or mutation in its coding component are used as diagnostic markers of RTs.2,3 The prognosis of RTs is generally poor; however, long-term survival has been reported.4–6 To date, there are no standard protocols for diagnosing and treating RTs, which can vary widely depending on the tumor site. The rarity of all RT varieties also makes prognostic comparison difficult. An exclusively clinical approach is often not appropriate for RT investigation, which requires additional genetic and molecular analyses. In this study, we describe four extra-cranial RT (ERT) cases, including two long-term survivors, via the observation of clinical features and genetic and immunohistochemical analyses. This information can be used to develop improved combined strategies for diagnosing RTs.
Pathology and systemic therapy of non-clear cell renal cell carcinoma: an overview
Published in Expert Review of Anticancer Therapy, 2021
Lothar Bergmann, Sarah Weber, Arndt Hartmann, Marit Ahrens
Renal tumors with a defect in the SWItch-sucrose-non-fermentable (SWI-/SNF) complex, which results in a loss of the expression of SMARCB1/INI, can occur in the context of three different clinical settings [36]. In rhabdoid tumor predisposition syndromes, malignant rhabdoid tumors occur especially in children or young adults. These tumors show a very aggressive growth pattern and frequent metastasis. The tumor cells display a solid or spindle cell growth, with large polygonal cells and rhabdoid morphology. Histopathological features include extensive tumor necrosis, prominent nucleoli and high mitotic activity. Immunohistochemically, these tumors have an obligate complete nuclear loss of SMARCB1/INI expression [36].Renal medullary carcinoma is found in young adults in association with the sickle cell trait and other hemoglobinopathies. The tumors occur in the renal medulla and show again an obligate expression loss of SMARCBI/INI and a poor prognosis [37].Dedifferentiated and undifferentiated RCC (NOS) often show a loss of SMARCB1/INI expression. The newly defined entity of a SMARCB1/INI-deficient RCC includes these tumors, seeking to allow further insight into their biology and molecular genetics.
Atypical Teratoid Rhabdoid Tumor in a Newborn: Can IVF Be a Risk Factor?
Published in Fetal and Pediatric Pathology, 2022
Turkay Rzayev, Kubra Gokce, Safak Gucyetmez, Suheyla Bozkurt, Adnan Dagcinar, Gulnur Tokuc, Akan Yaman, Hulya Bilgen, Eren Ozek
The patient was operated on the 23rd postnatal day. During the surgery, the mass invaded the hemisphere and was subtotally resected. The biopsy revealed a tumor composed of small cells with round-oval eccentric nuclei, prominent nucleoli, and eosinophilic cytoplasmic globules resembling rhabdoid cells. Immunohistochemical analysis demonstrated immunoreactivity with epithelial membrane antigen (EMA), smooth muscle antigen (SMA), synaptophysin, glial fibrillary acidic protein (GFAP) in tumor cells, and the Ki-67 index was 67%. INI-1 (SMARCB1 gene) expression was lost in tumor cells while endothelial cells were positive. Pathologic diagnosis was reported as Atypical Teratoid Rhabdoid Tumor, WHO grade 4 (Figure 1(C–E)).