Muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)].
We report on a 2-year-old girl with probable limb-girdle muscular dystrophy associated with an extra-abdominal desmoid tumor of the right mandible. This association is previously undescribed. The tumor was totally removed. Cytogenetic analysis of the tumor showed a clonal karyotypic abnormality: 46,XX,add(1)(p36) in 3 of 20 cells analyzed. Since an association of a neoplasm with limb-girdle muscular dystrophy has previously been reported in 3 cases, the two abnormalities are likely related causally. The chromosome abnormality in our patient may play a role in the occurrence of her desmoid tumor.
Katsuura
M
M
Department of Pediatrics, Yamagata University School of Medicine, Japan.
Kato
M
M
Sendo
D
D
Akiba
K
K
Honma
A
A
Takahashi
Y
Y
Numakura
C
C
Yokoyama
S
S
Nonaka
I
I
Shibata
T
T
Hayasaka
K
K
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D018222:Desmoid Tumors / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008339:Mandibular Neoplasms / Q000150:complications* / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics*