A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature

Coccé, Mariela C.; Lubieniecki, Fabiana; Kordes, Uwe; Alderete, Daniel; Gallego, Marta S.

doi:10.1007/s11060-010-0478-0

Cited by 20 publications

(18 citation statements)

References 25 publications

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“…When compared with samples prepared by fineneedle aspiration, smearing or squash preparation of tissue core needle biopsies, or tissue biopsy, the current series did not demonstrate the architectural and other malignant features of AT/RT such as papillary-like architecture, apoptosis, necrosis, and dystrophic calcifications. 1,5,16,19,21 This finding suggests that some tumor characteristics were relinquished during the CSF dissemination process.…”

Section: Discussionmentioning

confidence: 91%

Cytologic characterization of atypical teratoid/rhabdoid tumor in cerebrospinal fluid

Huang

Guzmán

Girolami

et al. 2014

Cancer Cytopathology

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BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly aggressive intracranial malignancy with a predilection to spread along the cerebrospinal fluid (CSF) pathways. To the authors' knowledge, the cytopathologic characteristics of this tumor have not been extensively studied in CSF. Herein the authors report CSF cytomorphology from a series of patients with histologically documented AT/RT. METHODS: A retrospective review of 40 malignant CSF specimens from 10 patients with histologically confirmed AT/RT was conducted. All the patients were female and ranged in age from 0.8 to 19.6 years at the time of the initial diagnosis (median age, 1.3 years). Cytospin preparations were reviewed. In the majority of cases, at least 2 slides were prepared with the Wright-Giemsa and/or Papanicolaou stains. RESULTS:The CSF samples were predominantly moderately to highly cellular (80%). The 3 most common features were eccentrically placed nuclei (72.5%), prominent nucleoli (70%), and large tumor cells (67.5%). Two principal malignant cell types were noted; the most striking and recognizable form was a large, usually rhabdoid cell with an eccentrically placed nucleus, prominent nucleolus, and abundant cytoplasm, which was observed in 47.5% of the cases. The second type had a small cell appearance and was noted in 57.5% of the cases. Both large rhabdoid and small malignant cells were reported in 25% of the cases.

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Section: Discussionmentioning

confidence: 91%

Cytologic characterization of atypical teratoid/rhabdoid tumor in cerebrospinal fluid

Huang

Guzmán

Girolami

et al. 2014

Cancer Cytopathology

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“…Atypical teratoid rhabdoid tumor (ATRT) is a highly rare and malignant pediatric brain tumor comprising approximately 2-3 % of pediatric brain tumors and 10 % of CNS tumors in infants [10]. Unlike the t(12;15) translocation found in MASC, ATRT is generally characterized by inactivating deletions and mutations affecting the hSNF5/INI1 tumor suppressor gene on chromosome 22 encoding for a chromatin remodelling protein.…”

Section: Discussionmentioning

confidence: 99%

Mammary Analogue Secretory Carcinoma of the Parotid Gland as a Secondary Malignancy in a Childhood Survivor of Atypical Teratoid Rhabdoid Tumor

Woo

Seethala

Sirintrapun

2013

Head and Neck Pathol

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We report the first case of mammary analogue secretory carcinoma (MASC) arising as a secondary malignancy in a 14 years old child with a history of atypical teratoid rhabdoid tumor (ATRT). Although MASC and ATRT are both rare malignancies, they do not share the same genetic and molecular profiles. MASC is a salivary malignancy characterized by a t(12;15)(p13;q25) translocation, resulting in an ETV6-NTRK3 fusion product encoding for a tyrosine kinase. ATRT is a highly malignant pediatric tumor characterized by a chromosome 22 mutation in the hSNF5/INI1 gene, encoding for a chromatin remodeling protein. Additionally, although mucoepidermoid carcinoma has been described as a secondary malignancy post-therapy for head and neck tumors, MASC has only been reported as a primary malignancy. Our patient was treated with a complete resection of his left sided ATRT at age 3 followed postoperatively with chemoradiotherapy. At age 14 he underwent a parotidectomy for his 1 year history of a left sided preauricular mass and was subsequently diagnosed with MASC. We not only report a case of two rare malignancies in one patient, but also the first case of MASC arising as a secondary malignancy.

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“…A characteristic feature of ATRTs is usually the loss of one copy of the entire chromosome 22 or a deletion or translocation specifically involving chromosome band 22q11.2 (2). This aberration of chromosome 22 results in a loss of the gene SMARCB1/INI1/hSNF5 (3–5).…”

Section: Introductionmentioning

confidence: 99%

Therapeutic Targeting of PTK7 is Cytotoxic in Atypical Teratoid Rhabdoid Tumors

Messerli

Hoffman

Gnimpieba

et al. 2017

Molecular Cancer Research

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Novel discoveries involving the evaluation of potential therapeutics are based on newly identified molecular targets for atypical teratoid rhabdoid tumors (ATRT), which are the most common form of infantile brain tumors. Central nervous system ATRTs are rare, aggressive, and fast growing tumors of the brain and spinal cord and carry a very poor prognosis. Currently, the standard of care for ATRT patients is based on surgical resection followed by systemic chemotherapy and radiation therapy, which result in severe side effects. Since protein tyrosine kinases have proven to be actionable targets that reduce tumor growth in a number of cancers, we examined how inhibiting tyrosine kinases affected ATRT tumor growth. Here, we examine the therapeutic efficacy of the broad spectrum tyrosine kinase inhibitor Vatalanib in the treatment of ATRT. Vatalanib significantly reduced the growth of ATRT tumor cell lines, both in two-dimensional cell culture and in three-dimensional cell culture using a spheroid model. Since Vatalanib had a remarkable effect on the growth of ATRT, we decided to use a transcriptomic approach to therapy by examining new actionable targets, such as tyrosine kinases. Next generation RNA sequencing and NanoString data analysis showed a significant increase in PTK7 RNA expression levels in ATRT tumors. Inhibition of PTK7 by short interference RNA treatment significantly decreases the viability of ATRT patient-derived tumor cell lines. Implications These studies provide the groundwork for future preclinical in vivo studies aiming to investigate the efficacy of PTK7 inhibition on ATRT tumor growth.

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A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature

Cited by 20 publications

References 25 publications

Cytologic characterization of atypical teratoid/rhabdoid tumor in cerebrospinal fluid

Cytologic characterization of atypical teratoid/rhabdoid tumor in cerebrospinal fluid

Mammary Analogue Secretory Carcinoma of the Parotid Gland as a Secondary Malignancy in a Childhood Survivor of Atypical Teratoid Rhabdoid Tumor

Therapeutic Targeting of PTK7 is Cytotoxic in Atypical Teratoid Rhabdoid Tumors

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