Tumor Characteristics in Patients With Paraneoplastic Neurological Syndromes (PNS) (GenePNS)

Civil Hospices of Lyon

Status: Unknown

Conditions: Paraneoplastic Syndromes; Tumor Genetics; Immune System and Related Disorders; Cancer; Neurologic Disorder

Study type: Observational

Funder types: Other

Identifiers

NCT03963700

GenePNS

Details and patient eligibility

About

Paraneoplastic neurological syndromes (PNS) are immune-mediated complications of cancer that can affect any part of the central or peripheral nervous system.

PNS occurs at the intersection between immune system and the tumor, where a combination of genetical and environmental factors may play a role.

Mechanisms leading to immune tolerance breakdown and autoimmunity in PNS remain largely unknown, and this reflects in an unsatisfactory repertoire of treatments available. Moreover, a better understanding of the biological mechanisms underlying PNS would allow a more precise identification of the modalities that permit PNS patients to have a better oncological prognosis than cancer patient without PNS, with obvious repercussions in clinical oncology.

To this effect, an extremely innovative approach involves directly exploring the tumoral tissue of patients suffering from specific PNS via genomic and transcriptomic analysis.

The study team hypothesizes that antigen ectopic expression by tumour cells may contribute to the generation of PNS.

In the present study, the investigators will analyze the salient features of tumors associated with PNS, namely the histological and immune cells infiltrate characteristics, their transcriptomic profile, and mutational status of involved antigens.

Enrollment: 980 estimated patients

Sex: All

Ages: 18 to 100 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• presence of well characterized antibodies in serum or cerebrospinal fluid;
• histologically proven cancer with available tumour sample;
• Paraneoplastic neurological syndrome (PNS) diagnosis according to the international guidelines;
• Age: at least 18 years old.

Exclusion criteria

• Absence of complete clinicopathological data

Trial design

980 participants in 1 patient group

Cancer patients with Paraneoplastic neurological syndromes

Description:

Cancer patients with Paraneoplastic neurological syndromes presenting various autoimmune anomalies: * Anti-Hu also known as anti-Neuron specific cell Nuclear Antibodies (anti-ANNA1) (350 patients), uncommon form of brain inflammation associated with an underlying cancer * anti-Yo (130 patients), antibody associated with paraneoplastic cerebellar degeneration * anti-Ma2 (50 patients), antibody associated with paraneoplastic encephalitis * anti-N-methyl-d-aspartate (NMDA) Receptor (350 patients), autoimmune disorder in which antibodies attack N-methyl-D-aspartate-type glutamate receptors * anti-gamma-aminobutyric acid-B (GABAb) receptor (35 patients), autoimmune disorder in which antibodies attack gamma-aminobutyric acid-B receptors * anti-alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid (AMPA) receptor (15 patients), autoimmune disorder in which antibodies attack alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptors * without antibodies (50 patients).