Perinatal (fetal and neonatal) astrocytoma: a review

Isaacs, Hart

doi:10.1007/s00381-016-3215-y

Cited by 34 publications

(25 citation statements)

References 80 publications

(242 reference statements)

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“…According to one review, of all childhood brain tumors, the ones diagnosed within the first 2 months after birth account for approximately 0.5–1.5% of patients (Rickert, ). In a literature review of 101 fetal and neonatal patients of astrocytoma, 9.9% were low grade astrocytoma located at the spinal cord (half of patients), cerebral hemisphere ( n = 3), and optic nerve ( n = 2; Isaacs, ). The role of PRMT7 in tumorigenesis is highlighted in a recently published article describing arginine methylation in B cell histones by PRMT7 (Ying et al, ).…”

Section: Discussionmentioning

confidence: 99%

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations

Birnbaum

Yosha-Orpaz

Yanoov-Sharav

et al. 2018

American J of Med Genetics Pt A

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Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-L-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 10 patients have been described with mutations in PRMT7. The shared findings include: hypotonia, intellectual disability, short stature, brachydactyly, and mild dysmorphic features. We describe the prenatal, postnatal, and pathological findings in two male sibs homozygote for a mutation in PRMT7. Both had intrauterine growth restriction involving mainly the long bones. In addition, eye tumor was found in the first patient, and nonspecific brain calcifications and a systemic venous anomaly in the second. The pregnancy of the first child was terminated and we describe the autopsy findings. The second child had postnatal growth restriction of prenatal onset, hypotonia, strabismus, sensorineural hearing loss, genitourinary and skeletal involvement, and global developmental delay. He had dysmorphic features that included frontal bossing, upslanting palpebral fissures, small nose with depressed nasal bridge, and pectus excavatum.Our patients provide additional clinical and pathological data and expand the phenotypic manifestations associated with PRMT7 homozygote/compound heterozygote mutations to include brain calcifications and delayed myelination, and congenital orbital tumor. K E Y W O R D S developmental delay, pilocytic astrocytoma, prenatal ultrasound, PRMT7, systemic venous anomaly 1 | INTRODUCTION In 2015, Akawi et al. (2015) described six affected individuals from three families with variants in the protein arginine methyltransferase 7 (PRMT7) gene. The patients were part of a cohort of 4,125 families analyzed according to probabilistic genotype and phenotype matching, which gave rise to new genes. The associated clinical phenotype seen in these patients was considered a phenocopy of pseudohypoparathyroidism (PHP; MIM 103580; also known as Albright hereditary osteodystrophy. In 2017, Kernohan et al. (2017) reported a 6-year-old male with severe intellectual disability, facial dysmorphism, microcephaly, short stature, brachydactyly, cryptorchidism, and seizures who was diagnosed with a homozygous 15,309 bp deletion encompassing the transcription start site of the PRMT7 gene. Agolini et al. (2018) described three additional patients with severe/moderate intellectual disability, short stature, brachydactyly, and mild dysmorphic features. Recently, Valenzuela et al. (2018) described a 2-yearold girl with intellectual disability, facial dysmorphism, short stature,brachydactyly, and hearing loss with two mutations inPRMT7. In this report, we describe, the prenatal, postnatal, and pathological findings of two male sibs found to harbor a homozygous PRMT7 mutation. | PATIENTS AND METHODSThis is a retrospective analysis of data from two consecutiv...

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Section: Discussionmentioning

confidence: 99%

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations

Birnbaum

Yosha-Orpaz

Yanoov-Sharav

et al. 2018

American J of Med Genetics Pt A

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“…These tumors are composed of glial cells (astrocytes) of varying degrees of differentiation. The most common fetal astrocytic tumor is the highly malignant glioblastoma multiforme (GBM), but other variants may also be seen, including low‐grade or anaplastic astrocytoma, and desmoplastic infantile astrocytoma 27,28 . Most fetal astrocytomas present as a large supratentorial mass causing shift of midline structures, obstructive hydrocephalus, and macrocrania 1,2,28 .…”

Section: Astrocytomamentioning

confidence: 99%

“…Low‐grade astrocytoma, represented by congenital hypothalamic chiasmatic glioma, appears as a focal suprasellar lesion without aggressive features. Glial tumors are most often detected at the end of the third trimester, which is later in gestation than other CNS tumors 1,28 ; however, they may grow very rapidly in a surprisingly short period of time. Isaacs presents a comprehensive analysis of fetal astrocytoma with an emphasis on prenatal management and prognostication for these patients, as well as suggestions for postnatal treatment based on potential for survival 28 .…”

Section: Astrocytomamentioning

confidence: 99%

Fetal brain, head, and neck tumors: Prenatal imaging and management

2020

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Fetal tumors represent an infrequent pathology when compared to congenital malformations, although their true incidence may be underestimated. A variety of benign and malignant neoplasms may occur anywhere in the neural axis. Imaging plays an important role in the fetal tumor diagnosis and evaluation of their resultant complications. Discovery of a fetal mass on obstetric ultrasound necessitates further evaluation with prenatal magnetic resonance imaging (MRI). New MR sequences and new applications of existing techniques have been successfully implemented in prenatal imaging. A detailed assessment may be performed using a variety of MR. Fetal tumors may be histologically benign or malignant, but their prognosis generally remains poor, especially for intracranial lesions. Unfavorable tumor location or heightened metabolic demands on a developing fetus may result in severe complications and a fatal outcome, even in cases of benign lesions. Nowadays, prenatal treatment focuses mainly on alleviation of secondary complications caused by the tumors. In this article we review congenital tumors of the brain, face, and neck encountered in prenatal life, and discuss diagnostic clues for appropriate diagnosis.

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“…2 Pooled data from 101 cases of perinatal astrocytic lesions have shown that high-grade gliomas (HGG), particularly glioblastomas, are the most common glial tumors in this population. 3 ALK protein is highly conserved in humans and has a major role in fetal neural cell development and differentiation. 5 Rearrangements involving ALK were initially identified in anaplastic large B-cell non-Hodgkin lymphomas.…”

Section: Perinatal Complex Low-and High-grade Glial Tumor Harboring Amentioning

confidence: 99%

“…These tumors usually account for 0.5‐1.5% of all brain tumors in children . Pooled data from 101 cases of perinatal astrocytic lesions have shown that high‐grade gliomas (HGG), particularly glioblastomas, are the most common glial tumors in this population . Yet, the simultaneous occurrence of mixed high‐grade and low‐grade gliomas (MHLG) may be considered exceptional.…”

mentioning

confidence: 99%