Metabolic profiling of patient-derived organoids reveals nucleotide synthesis as a metabolic vulnerability in malignant rhabdoid tumors.

Malignant rhabdoid tumor (MRT) is one of the most aggressive childhood cancers for which no effective treatment options are available. Reprogramming of cellular metabolism is an important hallmark of cancer, with various metabolism-based drugs being approved as a cancer treatment. In this study, we use patient-derived tumor organoids (tumoroids) to map the metabolic landscape of several pediatric cancers.

AGGRESSIVE RHABDOID TUMOR IN THE RIGHT LUNG: A CASE REPORT.

Rhabdoid tumor is a rare and aggressive neoplasm that usually occurs in children and is often localized in the central nervous system and kidneys, but can be found in many other sites. In our case report, we describe a tumor that was found on computed tomography in the thoracic region of a 62-year-old male and was successfully surgically resected. The images and descriptions of our findings and the results of the additional immunohistochemical studies allow us to make the final diagnosis.

Rhabdoid Tumor of the Kidney and Soft Tissues: Results from National Wilms Tumor Study-5 and Children's Oncology Group Study AREN0321.

Purpose: National Wilms Tumor Study-5 (NWTS-5) and AREN0321 evaluated the outcomes of children with rhabdoid tumor of the kidney (RTK) and malignant rhabdoid tumor of soft tissues (MRT).

Patients And Methods: Eligible patients with RTK were enrolled prospectively on NWTS-5 (1995-2002) and treated with carboplatin and etoposide alternating with cyclophosphamide (Regimen RTK). Patients with RTK or MRT were enrolled on AREN0321 (2005-2012) and received vincristine, doxorubicin, and cyclophosphamide alternating with carboplatin, cyclophosphamide, and etoposide (Regimens UH-1 or dose-reduced Revised UH-1).

Primary cutaneous rhabdomyosarcoma with EWSR1/FUS::TFCP2 fusion: four new cases with distinctive morphology, immunophenotypic, and genetic profile.

EWSR1/FUS::TFCP2-rearranged rhabdomyosarcoma (RMS) is a rare tumor with an aggressive clinical course, a predilection for craniofacial bones, spindled and/or epithelioid histomorphology, and positive immunohistochemistry (IHC) for epithelial and myogenic markers, along with variable ALK expression. Herein, we present four additional cases of primary cutaneous TFCP2-rearranged RMS. Notably, one tumor (case 1) displayed a varied pathological spectrum, initially presenting as a low-grade spindle cell neoplasm, but progressed into a high-grade spindle/epithelioid tumor.

Primary tumor characteristics and immunohistochemical profile of renal cell carcinoma in serous fluid cytology.

Introduction: Renal cell carcinoma (RCC) involves serosal surfaces in 2%-3% of cases, and thus few papers describe serous fluid cytology (SFC) involvement by RCC. This diagnosis is challenging, given its rarity, nondescript cytomorphologic features and infrequent expression of widely used epithelial markers MOC31 and BerEP4. We describe our institutional experience with RCC in SFC specimens.

Correlation of histological immunophenotype in papillary renal cell carcinoma with gene signatures related to the therapeutic effect of systemic therapy.

To predict the therapeutic response of systemic therapy, comprehensive analyses of the tumor microenvironment in papillary renal cell carcinoma (pRCC) have been conducted previously using immunohistochemistry and RNA sequencing. This study aimed to evaluate the correlation between hematoxylin and eosin-based histological immunophenotypes and gene signatures employed in several clinical trials predicting responsiveness to immune checkpoint inhibitors and tyrosine kinase inhibitors, using data from the Cancer Genome Atlas (TCGA)-KIRP cohort (n = 254). Herein, we evaluated tumor-associated immune cells (TAICs) using three methodologies previously reported in clear cell RCC: a 3-tier immunophenotype (desert, excluded, and inflamed) based on the spatial distribution of TAICs; a 4-tier immunophenotype (cold, immune-low, excluded, and hot) considering both the location and degree of TAICs; and an inflammation score (score 0, 1, and 2) focusing only on the degree of TAICs.

Primary Cutaneous Rhabdoid Squamous Cell Carcinoma: A Case Report and Review of Molecular Features.

We present a rare case of rhabdoid squamous cell carcinoma (RSCC) on the scalp of a non-immunosuppressed male patient in his late 60s. This aggressive variant of squamous cell carcinoma (SCC) is characterized by tumor cells with eccentrically located nuclei and abundant eosinophilic cytoplasm, as observed on histopathological examination. While rhabdoid morphology has been reported in various anatomical sites, its occurrence in primary cutaneous tumors is exceptionally uncommon, with fewer than 10 cases documented to date.

Adult Primary Central Nervous System Atypical Teratoid/Rhabdoid Tumor Metastasizing to the Cervical Lymph Node.

Atypical teratoid/rhabdoid tumors (AT/RTs) of the central nervous system (CNS) are rare and aggressive, typically occurring in early childhood or infancy, with adult cases being extremely rare. These tumors are associated with the inactivation of the integrase interactor 1 (INI1) gene. The prognosis is poor, worsening significantly if metastasis is detected at diagnosis.

Designing a Time-Dependent Therapeutic Strategy using CDK4/6 Inhibitors in an Intracranial ATRT Model.

Background: Inhibitors targeting cyclin-dependent kinases 4 and 6 (CDK4/6), crucial for cell cycle regulation, have shown promise in early-stage studies for treating central nervous system (CNS) tumors. However, challenges such as limited CNS penetration, optimal treatment duration, and systemic side effects have impeded their clinical translation for pediatric brain tumors (PBTs).

Methods: We evaluated the potency of CDK4/6 inhibitors across various PBTs cell lines, focusing particularly on palbociclib against atypical teratoid rhabdoid tumor (ATRT) with cell viability assays and gene expression analysis.

Atypical Teratoid Rhabdoid Tumor of the Brain in a Young Adult With Down Syndrome: Case Report and Literature Review.

Atypical teratoid/rhabdoid tumor (ATRT) is an aggressive, malignant embryonal tumor with dismal long-term survival despite aggressive multimodal therapy. While this tumor typically presents in infancy or early childhood, there are published case reports of adult-onset ATRT. Making prognostic conclusions or therapeutic decisions for this older patient population remains challenging due to the paucity of these reports.

[Dedifferentiated endometrial carcinoma/undifferentiated endometrial carcinoma with loss of expression of SMARCA4: clinicopathological features analysis].

To investigate the clinicopathological characteristics of dedifferentiated endometrial carcinoma/undifferentiated endometrial carcinoma (DDEC/UDEC) with loss of expression of SMARCA4. A total of 10 cases with loss of expression of SMARCA4 were diagnosed at Fujian Cancer Hospital between January 2019 and December 2023. A retrospective analysis was conducted on the clinical characteristics, morphology, immunophenotype, molecular classification, and prognosis.

Treatment of cerebral radiation necrosis using hyperbaric oxygen therapy in a child: illustrative case.

Background: Cerebral radiation necrosis (RN) is an uncommon sequela that occurs in up to 25% of irradiated patients. This can occur 6 months to several years after therapy and create symptoms of headaches, focal neurological deficits, seizures, or behavioral changes. Management can involve corticosteroids, antiplatelet drugs, surgery, and hyperbaric oxygen therapy (HBOT).

Absence of SMARCB1 in rhabdoid tumor cells increases sensitivity to translation inhibition and alters translation efficiency of specific mRNAs.

Rhabdoid tumors, characterized and driven by the loss of the mammalian SWItch/sucrose nonfermentable subunit SMARCB1, are very aggressive childhood cancers that can arise in the brain, the kidney, or soft tissues. Cell lines derived from these tumors are specifically sensitivity to the translation inhibitor homoharringtonine. Having recently demonstrated mammalian SWItch/sucrose nonfermentable roles in translation, we assessed SMARCB1 potential roles in translation in rhabdoid tumor cells.

Switch/Sucrose Nofermentable-Deficient Tumors-Morphology, Immunophenotype, Genetics, Epigenetics, Nosology, and Therapy.

About 20% of human cancers harbor mutations of genes encoding switch/sucrose nonfermentable (SWI/SNF) complex subunits. Deficiency of subunits of the complex is present in 10% of non-small-cell lung cancers (NSCLC; SMARCA4/SMARCA2 deficient), 100% thoracic SMARCA4/A2-deficient undifferentiated tumors (TSADUDT; SMARCA4/A2 deficient), malignant rhabdoid tumor, and atypical/teratoid tumor (SMARCB1-deficient), >90% of small cell carcinoma of the ovary, hypercalcemic type (SMARCA4/SMARCA2 deficient), frequently in undifferentiated/dedifferentiated endometrial carcinoma (SMARCA4, SMARCA2, SMARCB1, and ARID1A/B deficient), 100% SMARCA4 deficient undifferentiated uterine sarcoma (SMARCA4 deficient); and in various other tumors from multifarious anatomical sites. Silencing of SWI/SNF gene expression may be genomically or epigenetically driven, causing loss of tumor suppression function or facilitating other oncogenic events.

Successful treatment of a 4-year-old girl with pure malignant rhabdoid tumor of the bladder: a case report.

Background: Extracranial malignant rhabdoid tumors (eMRTs) are rare, highly aggressive neoplasms, predominantly arising in the kidneys, with bladder involvement being extremely uncommon. Optimal management strategies, particularly bladder-preserving approaches, are not well-established due to the rarity of these cases.

Case Description: We report the case of a 4-year-old girl who presented with persistent gross hematuria.