Primary diffuse leptomeningeal atypical teratoid/rhabdoid tumor diagnosed by cerebrospinal fluid cytology: case report with molecular genetic analysis

Tomomasa, Ran; Nakata, Satoshi; Nobusawa, Sumihito; Horiguchi, Keishi; Matsumura, Nozomi; Ikota, Hayato; Hirato, Junko; Yoshimoto, Yuhei; Yokoo, Hideaki

doi:10.1016/j.humpath.2017.12.026

Cited by 7 publications

(12 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…CSF cytology in these AT/RT patients is often also examined for assessment of disease recurrence, and tumor cells found in the CSF have been shown to be in clusters and have unique eccentric nuclei, abundant cytoplasm, and prominent nucleoli (8). One case report describes the detection of rhabdoid cells with loss of INI1 reactivity on cytological examination of CSF in a patient with diffuse leptomeningeal AT/RT, illustrating the feasibility of obtaining molecular genetic information from CSF analysis in these types of tumors (9).…”

Section: History Of Liquid Biomarkers In Neuro-oncologymentioning

confidence: 99%

The Role of Liquid Biopsies in Pediatric Brain Tumors

Tang

Gardner²,

Snuderl

2020

Journal of Neuropathology &Amp; Experimental Neurology

View full text Add to dashboard Cite

Early detection and serial therapeutic monitoring for pediatric brain tumors are essential for diagnosis and therapeutic intervention. Currently, neuropathological diagnosis relies on biopsy of tumor tissue and surgical intervention. There is a great clinical need for less invasive methods to molecularly characterize the tumor and allow for more reliable monitoring of patients during treatment and to identify patients that might potentially benefit from targeted therapies, particularly in the setting where diagnostic tissue cannot be safely obtained. In this literature review, we highlight recent studies that describe the use of circulating tumor DNA, circulating tumor cells, circulating RNA and microRNA, and extracellular vesicles as strategies to develop liquid biopsies in pediatric central nervous system tumors. Liquid biomarkers have been demonstrated using plasma, urine, and cerebrospinal fluid. The use of liquid biopsies to help guide diagnosis, determine treatment response, and analyze mechanisms of treatment resistance is foreseeable in the future. Continued efforts to improve signal detection and standardize liquid biopsy procedures are needed for clinical application.

show abstract

Section: History Of Liquid Biomarkers In Neuro-oncologymentioning

confidence: 99%

The Role of Liquid Biopsies in Pediatric Brain Tumors

Tang

Gardner²,

Snuderl

2020

Journal of Neuropathology &Amp; Experimental Neurology

View full text Add to dashboard Cite

show abstract

“…Although this could be an alternate diagnostic consideration, our case involved a child, the morphology was within the spectrum of AT/RT in general, and the tumour was not considered purely meningeal on MRI [6]. Lastly, it should be noted that rare AT/RTs presenting in the meninges have also been documented [7].…”

mentioning

confidence: 94%

“…[6] Lastly, it should be noted that rare AT/RTs presenting in the meninges have also been documented. [7]…”

mentioning

confidence: 99%

Non‐meningothelial meningeal tumours with meningioangiomatosis‐like pattern of spread

Iorgulescu

Ferris

Agarwal

et al. 2018

Neuropathology Appl Neurobio

View full text Add to dashboard Cite

“…Atypical teratoid rhabdoid tumor (AT/RT) is a highly malignant central nervous system (CNS) embryonal tumor, classified as grade IV in the fourth edition of the WHO classification for CNS tumors [1] . A loss of switch/sucrose non-fermentable (SWI/SNF) -related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) expression follows the loss of nuclear Integrase Interactor 1 (INI1) activity, resulting in AT/RT occurrence [2] . Characteristic histological findings include varying proportions of rhabdoid cells, which are negative for INI1 immunohistochemical staining [2] .…”

Section: Introductionmentioning

confidence: 99%

“…A loss of switch/sucrose non-fermentable (SWI/SNF) -related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) expression follows the loss of nuclear Integrase Interactor 1 (INI1) activity, resulting in AT/RT occurrence [2] . Characteristic histological findings include varying proportions of rhabdoid cells, which are negative for INI1 immunohistochemical staining [2] . It typically affects children younger than 3 years old [3] , and rarely occurs in adolescents and adults, of which only 75 cases have been reported previously [4] .…”

Section: Introductionmentioning

confidence: 99%

Primary diffuse leptomeningeal atypical teratoid rhabdoid tumor (AT/RT) demonstrating atypical imaging findings in an adolescent patient

Kayo

Yogi

Hamada

et al. 2022

Radiology Case Reports

View full text Add to dashboard Cite

Atypical teratoid rhabdoid tumor (AT/RT) is a highly malignant central nervous system embryonal tumor, which typically affects the posterior fossa of young children. Primary diffuse leptomeningeal AT/RT, affecting the leptomeninges without any intraparenchymal mass in the brain and spinal cord, is an extremely rare form of AT/RT. Only 5 such cases have been reported previously, none of which underwent Fluorine-18-Fluorodeoxyglucose Positron Emission Tomography (FDG-PET). We herein report a case of primary leptomeningeal AT/RT in an adolescent patient who underwent computed tomography, magnetic resonance imaging and FDG-PET. The computed tomography and magnetic resonance imaging indicated diffusely thickened leptomeninges without any intraparenchymal masses in the head and spine. Furthermore, there were multiple nodules on the thickened leptomeninges. On FDG-PET, the thickened leptomeninges and nodules demonstrated a lower standardized uptake value than that of the normal cerebral cortex. Biopsy and histopathological studies confirmed the diagnosis of AT/RT. Despite its rare occurrence, it is important to recognize primary diffuse leptomeningeal AT/RT for correct diagnosis and management of patients.

show abstract

Primary diffuse leptomeningeal atypical teratoid/rhabdoid tumor diagnosed by cerebrospinal fluid cytology: case report with molecular genetic analysis

Cited by 7 publications

References 12 publications

The Role of Liquid Biopsies in Pediatric Brain Tumors

The Role of Liquid Biopsies in Pediatric Brain Tumors

Non‐meningothelial meningeal tumours with meningioangiomatosis‐like pattern of spread

Primary diffuse leptomeningeal atypical teratoid rhabdoid tumor (AT/RT) demonstrating atypical imaging findings in an adolescent patient

Contact Info

Product

Resources

About