PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 2852368

So-called primitive neuroectodermal tumor in aborted previable fetuses.

D K Kalousek·T Pantzar·R Craver
View original source ↗Export metadata ↓

Abstract

We have described the gross anatomic and histopathologic characteristics of 36 tumorlike lesions found in previable fetuses. Although these lesions appear to be invasive, metastasizing, and likely contributing to the death of the fetus, they represent a frequent finding only among severely macerated retained fetuses of 9-16 developmental weeks and have never been found in fresh nonretained fetuses. No family history of neurofibromatosis could be elicited in any of these cases to support the suggestion in the literature that these tumors may represent fetal manifestations of neurofibromatosis. The most likely explanation is that they represent an artifact owing to squeezing of brain tissue into the spinal canal and along the spinal nerves into retroperitoneal and retropleural spaces or the neck area. As this artifact appears to be confined to a specific developmental period (9-16 weeks), it may be related to certain developmental characteristics such as a very soft consistency of brain tissue or incomplete development of vertebral foramina. A higher incidence of these lesions among heteroploid fetuses remains unexplained.

Explore related subjects

AneuploidyFemaleFetal DiseasesGestational AgeHumansNeoplasms, Germ Cell and EmbryonalPloidiesPregnancyJournal Article

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

D K Kalousek, T Pantzar, R Craver. 1988. So-called primitive neuroectodermal tumor in aborted previable fetuses.. https://doi.org/10.3109/15513818809022306

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2026

Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.

Advanced maternal age is a well-established risk factor for adverse reproductive outcomes due to increased rates of aneuploidy. However, emerging evidence indicates that the genetic consequences of maternal aging extend well beyond chromosome mis-segregation. Aging oocytes acquire a broad spectrum of genetic abnormalities, including maternally derived nuclear de novo mutations (DNMs) and mitochondrial DNA mutations, together with epigenetic dysregulation of DNA methylation and post-translational modification levels. These changes reflect the unique biology of the female germline in which oocytes remain arrested in meiotic prophase I for decades. Age-related deterioration of key processes, such as erosion of cohesion complexes, altered meiotic recombination, and weakened spindle assembly checkpoint surveillance collectively destabilize meiotic chromosome architecture, directly driving chromosome mis-segregation. At the same time, accumulation of endogenous DNA damage and declining DNA damage and repair processes increase the chances of transmitting lesions that can be converted into sequence-level mutations during the earliest embryonic divisions, when genome maintenance relies exclusively on maternal factors. High-resolution sequencing studies further demonstrate that maternal aging is associated with increased DNMs burden in both nuclear and mitochondrial DNA. Together, these findings support a model in which maternal aging is a driver of genome-wide instability that links aneuploidy and mutagenesis through shared defects in meiotic surveillance, declining DNA repair efficiency, and mitochondrial function. This framework positions delayed childbearing as a multifaceted genetic risk factor that extend beyond aneuploidy to include mutations and other genomic alterations that can impact intergenerational genetic risk.

Aneuploidy↗
PubMed2025

Modeling and targeting general and chromosome-specific aneuploidy in cancer.

Throughout the last century, aneuploidy has been cemented as a hallmark of cancer. Although the association of aneuploidy with tumorigenesis has been well established, the role of these genetic imbalances in tumor formation has only recently begun to be elucidated. Advancements in genomics have revealed the complexity and context dependence of the effect of aneuploidy on cancer growth, while developments in genetic editing have allowed for proper modeling of specific aneuploidies. In this review, we discuss the key factors to consider when studying the role of aneuploidy in cancer and the tools that are available to do so. We then highlight recent studies that establish phenotypic contributions of aneuploidy to tumorigenicity. In particular, we highlight how general aneuploidy and chromosomal instability affect the tumor microenvironment and how specific chromosomal alterations, including the loss of chromosome 9p and the gain of chromosomes 8q and 1q, influence tumor behavior and therapeutic responses. Finally, we emphasize the potential of targeting aneuploidy-induced vulnerabilities to improve cancer treatment outcomes.

Aneuploidy↗