Chromosome 17 Abnormalities in Pediatric Neuroblastic Tumor With Abundant Neuropil and True Rosettes

AbstractAdult Schwann cells (SCs) possess an inherent plastic potential. This plasticity allows SCs to acquire repair-specific functions essential for peripheral nerve regeneration. Here, we investigate whether stromal SCs in benign-behaving peripheral neuroblastic tumors adopt a similar cellular state. We profile ganglioneuromas and neuroblastomas, rich and poor in SC stroma, respectively, and peripheral nerves after injury, rich in repair SCs. Indeed, stromal SCs in ganglioneuromas and repair SCs share the expression of nerve repair-associated genes. Neuroblastoma cells, derived from aggressive tumors, respond to primary repair-related SCs and their secretome with increased neuronal differentiation and reduced proliferation. Within the pool of secreted stromal and repair SC factors, we identify EGFL8, a matricellular protein with so far undescribed function, to act as neuritogen and to rewire cellular signaling by activating kinases involved in neurogenesis. In summary, we report that human SCs undergo a similar adaptive response in two patho-physiologically distinct situations, peripheral nerve injury and tumor development.

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A Haplolethal Locus Uncovered by Deletions in the Mouse t Complex

Genetics ◽

10.1093/genetics/160.2.675 ◽

2002 ◽

Vol 160 (2) ◽

pp. 675-682

Author(s):

Victoria L Browning ◽

Rebecca A Bergstrom ◽

Sandra Daigle ◽

John C Schimenti

Keyword(s):

Gene Dosage ◽

Es Cells ◽

Embryonic Stem ◽

Chromosome 17 ◽

Mammalian Development ◽

T Complex ◽

Segmental Aneuploidy ◽

Systematic Exploration ◽

Radiation Induced ◽

Altered Gene

Abstract Proper levels of gene expression are important for normal mammalian development. Typically, altered gene dosage caused by karyotypic abnormalities results in embryonic lethality or birth defects. Segmental aneuploidy can be compatible with life but often results in contiguous gene syndromes. The ability to manipulate the mouse genome allows the systematic exploration of regions that are affected by alterations in gene dosage. To explore the effects of segmental haploidy in the mouse t complex on chromosome 17, radiation-induced deletion complexes centered at the Sod2 and D17Leh94 loci were generated in embryonic stem (ES) cells. A small interval was identified that, when hemizygous, caused specific embryonic lethal phenotypes (exencephaly and edema) in most fetuses. The penetrance of these phenotypes was background dependent. Additionally, evidence for parent-of-origin effects was observed. This genetic approach should be useful for identifying genes that are imprinted or whose dosage is critical for normal embryonic development.

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A rat mutation producing demyelination (dmy) maps to chromosome 17

Mammalian Genome ◽

10.1007/s003359900263 ◽

1996 ◽

Vol 7 (12) ◽

pp. 890-894 ◽

Cited By ~ 9

Author(s):

T. Kuramoto ◽

C. Sotelo ◽

N. Yokoi ◽

T. Serikawa ◽

E. Goñalons Sintes ◽

...

Keyword(s):

Chromosome 17

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EVIDENCE THAT TWO LOCI PREDOMINANTLY DETERMINE THE DIFFERENCE IN SUSCEPTIBILITY TO THE HIGH PRESSURE NEUROLOGIC SYNDROME TYPE I SEIZURE IN MICE

Genetics ◽

10.1093/genetics/99.2.285 ◽

1981 ◽

Vol 99 (2) ◽

pp. 285-307

Author(s):

R D McCall ◽

D Frierson

Keyword(s):

High Pressure ◽

Inbred Mouse ◽

Inbred Strains ◽

Chromosome 17 ◽

Seizure Threshold ◽

Mouse Strains ◽

Compression Rate ◽

Type I ◽

Major Locus ◽

The Difference

ABSTRACT Most mammals tested, when exposed to increasing pressure in helium/oxygen atmospheres, exhibit progressive motor disturbances culminating in two, usually successive, well-differentiated convulsive seizures. The seizures are highly reproducible components of the constellation of events that collectively constitute the High Pressure Neurologic Syndrome (HPNS). In the present study, we present evidence that the mean difference in seizure threshold pressures of the first seizure to occur (HPNS Type I) between inbred mouse strains DBA/2J and C57BL/6J is predominantly determined (> 60%) by the expression of a major locus—possibly linked to the H-2 locus on chromosome 17—and a minor locus, probably unlinked. This outcome is derived from applications of the maximum likelihood modeling procedure of Elston and Stewart (1973) and Stewart and Elston (1973) to eleven models of genetic determinacy and tests (including breeding tests) of "preferred" models so derived using BXD recombinant inbred strains that show the following: The major locus exhibits conditional dominance characteristics depending upon compression rate and minor locus genotype. At a constant mean compression rate of 100 atm hr-1, the major locus manifests strong, though incomplete, dominance apparently independent of minor locus genotype. Its expression is, however, highly sensitive to compression rate, losing its dominance altogether at a linear rate of 1,000 atm hr-1. The major locus interacts with the weakly dominant and relatively compression-rate-insensitive minor locus to retain dominance at fast compression only when the dominant alleles of both loci are present. A principal finding of this study is that employing two compression rates permits fuller genetic characterization of murine high-pressure seizure susceptibility differences than could be achieved by use of a single compression rate.

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Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.96.10.5598 ◽

1999 ◽

Vol 96 (10) ◽

pp. 5598-5603 ◽

Cited By ~ 334

Author(s):

I. D'Souza ◽

P. Poorkaj ◽

M. Hong ◽

D. Nochlin ◽

V. M.- Y. Lee ◽

...

Keyword(s):

Frontotemporal Dementia ◽

Rna Splicing ◽

Gene Mutations ◽

Regulatory Elements ◽

Chromosome 17 ◽

Splicing Regulatory Elements ◽

Multiple Alternative

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An Integrated Radiation Hybrid Map of Bovine Chromosome 19 and Ordered Comparative Mapping with Human Chromosome 17

Genomics ◽

10.1006/geno.1997.5143 ◽

1998 ◽

Vol 48 (1) ◽

pp. 93-99 ◽

Cited By ~ 28

Author(s):

Ya-Ping Yang ◽

Caird E. Rexroad ◽

Jörg Schläpfer ◽

James E. Womack

Keyword(s):

Human Chromosome ◽

Radiation Hybrid ◽

Comparative Mapping ◽

Bovine Chromosome ◽

Chromosome 17 ◽

Chromosome 19 ◽

Radiation Hybrid Map ◽

Human Chromosome 17

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Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01672-0 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Maxim Avanesov ◽

Lennart Well ◽

Azien Laqmani ◽

Thorsten Derlin ◽

Vincent M. Riccardi ◽

...

Keyword(s):

Computed Tomography ◽

Multidetector Computed Tomography ◽

Pulmonary Metastases ◽

Chromosome 17 ◽

Smoking History ◽

Preventive Strategy ◽

Lung Pathology ◽

Peripheral Nerve Sheath Tumors ◽

Pulmonary Manifestations ◽

Pulmonary Cysts

Abstract Background Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics of (NF1)-associated lung manifestations in a large single-center study using multidetector computed tomography (MDCT) and to evaluate the smoking history, patients’ age, genetics, and the presence of malignant peripheral nerve sheath tumors (MPNST) as potential influencing factors for lung pathologies. Methods In this retrospective study, 71 patients with NF1 were evaluated for the presence of distinctive lung manifestations like reticulations, consolidations, type of emphysema, pulmonary nodules and cysts. All patients underwent F-18-FDG PET/CT scans, which were reviewed by two experienced radiologists in consensus. Patients’ subgroups were formed based on their smoking history (current smokers/previous smokers/never smokers), age (< 12 years, 12–18 years, > 18 years), and presence of MPNST (MPNST/no MPNST). In 57 patients (80%), genetic analysis of sequences coding for the neurofibromin on chromosome 17 was performed, which was correlated with different lung pathologies. Results Among all NF1 patients (33 ± 14 years, 56% females), 17 patients (24%) were current smokers and 62 patients (87%) were > 18 years old. Pulmonary cysts, nodules, and paraseptal emphysema were the most common pulmonary findings (35%, 32%, 30%). The presence of pulmonary metastases, MPNST and centrilobular emphysema was associated with smoking. Cysts were observed only in adults, whereas no significant correlation between age and all other pulmonary findings was found (p > 0.05). Presence of MPNST was accompanied by higher rates of intrapulmonary nodules and pulmonary metastasis. Neither the presence nor absence of any of the specific gene mutations was associated with any particular lung pathology (p > 0.05). Conclusions All pulmonary findings in NF1 patients occurred independently from specific mutation subtypes, suggesting that many NF1 mutations can cause various pulmonary pathologies. The presence of pulmonary metastases, MPNST and centrilobular emphysema was associated with smoking, indicating the value of smoking secession or the advice not to start smoking in NF1 patients as preventive strategy for clinicians. For screening of pulmonary manifestations in NF1 patients, an MDCT besides medical history and physical examination is mandatory in clinical routine.

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