De novo germline <i>TP53</i> mutation presenting with synchronous malignancies of the central nervous system

Schniederjan, Matthew; Shehata, Bahig M.; Brat, Daniel J.; Esiashvili, Natia; Janss, Anna J.

doi:10.1002/pbc.22214

Cited by 10 publications

(7 citation statements)

References 12 publications

(16 reference statements)

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“…The former is scarce in humans and only detected on electron microscopy studies. The pigment morphology and staining features we have observed are similar to what has been described histologically and most probably corresponds to lipofuscin. This pigment is an intralysosomal, wear‐and‐tear product related to oxidative stress of proteins and lipids that accumulates with advancing age.…”

Section: Discussionsupporting

confidence: 87%

Cytologic features of the normal pineal gland of adults

Jiménez‐Heffernan

Bárcena

Agra

et al. 2015

Diagnostic Cytopathology

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It is well known that the histology of normal pineal gland may resemble not only pineal tumors but also gliomas, owing to its cellularity which is much greater than that of normal white or gray matter. Our recent experience with a case in which part of a normal gland was submitted for intraoperative consultation, together with the scarcity of cytologic descriptions, led us to perform a cyto-histologic correlation study. In addition to the intraoperative case, we collected five pineal glands from consecutive adult autopsies. During the squash procedure, we often noted the presence of calcified grains. Smears were hypercellular, distributed in tissue fibrillary fragments and as numerous single cells, with crystalline structures. Pineal gland cells (pineocytes) were large, round, epithelioid with ill-defined cytoplasms and moderate nuclear pleomorphism. Spindle cells with greater fibrillary quality were less common. One of the most remarkable findings seen in all cases was the presence of cytoplasmic pigment. Histological evaluation and immunohistochemical staining confirmed that the tissue was normal pineal gland. The histology showed a characteristic lobular aspect and frequent corpora arenacea. The pigment seen cytologically was also encountered in histology and corresponded to lipofuscin. Cytologic features of the pineal gland are peculiar when compared to other normal structures of the central nervous system. These features correlate closely with what is seen on histology. In an adequate clinical context, and in combination with frozen sections, cytology allows a specific recognition of the pineal gland during intraoperative pathologic consultations.

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Section: Discussionsupporting

confidence: 87%

Cytologic features of the normal pineal gland of adults

Jiménez‐Heffernan

Bárcena

Agra

et al. 2015

Diagnostic Cytopathology

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“…They account for approximately 4% of pediatric CNS tumors (Kaderali et al 2009) and are seen in about 10% of CMMRD-related brain tumors with a median age at diagnosis of 8 years (range 4-17 years) (Wimmer et al 2014). PNETs have also been reported in association with LFS (Schniederjan et al 2009;Stecher et al 2008) but at a frequency that appears to be less than CPCs. Among the limited case reports in the medical literature, the age of onset ranges from 10 to 14 years.…”

Section: Primitive Neuroectodermal Tumor (Pnet)mentioning

confidence: 99%

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

Scollon

Anglin

Thomas

et al. 2017

Journal of Genetic Counseling

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An understanding of the role of inherited cancer predisposition syndromes in pediatric tumor diagnoses continues to develop as more information is learned through the application of genomic technology. Identifying patients and their relatives at an increased risk for developing cancer is an important step in the care of this patient population. The purpose of this review is to highlight various tumor types that arise in the pediatric population and the cancer predisposition syndromes associated with those tumors. The review serves as a guide for recognizing genes and conditions to consider when a pediatric cancer referral presents to the genetics clinic.

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“…Accumulating evidence shows that CPP and CPC are strongly associated with LFS in families that carry TP53 germline mutations [1,4–6,20,21]. In 2008, a novel TP53 germline mutation E285V substitution was identified in a rare case of pediatric adrenocortical carcinoma and choroid plexus carcinoma [22].…”

Section: Discussionmentioning

confidence: 99%

A novel TP53 somatic mutation involved in the pathogenesis of pediatric choroid plexus carcinoma

Song

et al. 2012

Med Sci Monit

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SummaryBackgroundChoroid plexus carcinoma (CPC) is an uncommon, aggressive, malignant, central nervous system neoplasm that typically occurs in children, presenting with the signs and symptoms of intracranial hypertension and cerebrospinal fluid obstruction.Case ReportWe report the case of a 2.5-year-old girl with CPC. The tumor was subtotally removed by microsurgery, followed by gamma knife radiosurgery for the residual lesion. H&E staining indicated that this was a rare case of CPC. Neuropathological studies, assayed by immunohistochemical staining, showed that the tumor sample was positive to antibodies against S-100, CgA, AE1/AE3 (cytokeratin), Ki-67, INI1 and TP53, and was negative to antibodies against Nestin, GFAP, CD133, EMA and AFP. Moreover, stainings for transthyretin and vimentin were focally positive. Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene. In contrast to previous reports suggesting that TP53 germline mutations were associated with the pathogenesis of CPC, here we provide a rare case of CPC with TP53 somatic mutation, as evidence that the peritumoral tissue possesses the non-mutant TP53 allele.ConclusionsOur finding suggests that TP53 somatic mutations, in addition to its germline mutations, may also be involved in the pathogenesis of pediatric CPC.

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De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system

Cited by 10 publications

References 12 publications

Cytologic features of the normal pineal gland of adults

Cytologic features of the normal pineal gland of adults

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

A novel TP53 somatic mutation involved in the pathogenesis of pediatric choroid plexus carcinoma

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