12.2.4Cytogenetics

•t(2;13q35;q14 with 1p36) and t(1;13p36;q14), which result in fusion proteins that can change the transcription pattern of the tumor cells

•PAX3 and PAX7 are characteristically involved in the genetic alterations and part of the above mentioned chromosomal loci

•LOH (loss of heterozygosity) at 11p15 locus, in connection with the gene of growth factor IGF-2

•Hyperdiploidy with more than 53 chromosomes is associated with a more favorable prognosis than the diploid form with 46 chromosomes

12.2.5Clinical Manifestations

Symptoms depend on tumor location.

12.2.5.1 Head and Neck Area

•Frequency: 35%, including diseases of the orbit

•Location: orbit and parameningeal, such as middle ear, mastoid, nasal and paranasal area, pharynx, fossa pterygopalatina and fossa infratemporalis; tumors of the neck

•Symptoms:

–Orbit: proptosis (an early sign)

–Middle ear: pain, chronic otitis media, polypoid mass obstructing the ear canal

–Paranasal: sinusitis, obstruction of one side of nasal airway, pain, epistaxis, swelling

–Nasopharyngeal tract: obstruction of airways, sinusitis, local pain, epistaxis, difficulty in swallowing; eventually tumor visible in the pharynx or the nasal area

–Neck: hoarseness, difficulty in swallowing, visible tumor

•Complications: extension to central nervous system (CNS) by direct extension: meningeal symptoms, cranial nerve palsies, respiratory disturbance due to infiltration into the brain stem

12.2.5.2Genitourinary Tract Including Sarcoma Botryoides

• Frequency 22%

• Location: urethra, vagina, uterus, prostate, bladder, testes, paratesticular area, spermatic cord

• Symptoms:

– Problems of micturition

– Hematuria, vaginal bleeding

– 40% with involvement of lymph nodes (especially in paratesticular rhabdomyosarcoma)

12.2.5.3Extremities and Trunk

•Frequency: 18% in extremities; 7% in the trunk

•Location: trunk, chest, abdomen, paraspinal area

•Symptoms: