Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Abstract Text:

We report two unrelated patients with infantile spinal muscular atrophy (SMA) types II and IIIa who developed alveolar rhabdomyosarcoma (ARMS) at 15 and 19 years, respectively. The tumours were located in the forearm, within severely atrophic flexor muscles. They displayed a similar histology and shared the most common translocation, t(2;13)(q35;14) in ARMS. Since cell proliferation is increased in de- and regenerating muscle and the PAX3/FKHR fusion protein activates myogenic transcription, it is tempting to speculate whether severe muscle atrophy in SMA might predispose to malignant transformation in long-standing disease.

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Publishing Authors By Initials

For similar proteins: transcription factors research abstracts see: proteins: transcription factors research

PUBMED ID PMID:

MEDLINE DATE:

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuromuscular disorders : NMD

VOLUME: 15

Page Numbers: 45-7

Journal Abbreviation: Neuromuscul. Disord.

ISSN: 0960-8966

DAY: 9

MONTH: 12

YEAR: 2004

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9111470

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: metabolism

Chemical & Substance for Abstract: Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Information

Substance Name: Transcription Factors

Registry Number: 0

Grant and Affiliation Information for Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?

AFFILIATION: Institute for Human Genetics, University Clinic, University of Technology, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany. srudnik-schoeneborn@ukaachen.de

Country: England

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Neuromuscul Disord

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition? Related Publications

• A HhaI polymorphism in the human MEP1A gene encoding the alpha subunit of the metalloendopeptidase meprin.
• Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?
• Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.
• Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.
• Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
• De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
• Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.
• Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
• Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
• Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.