NOTES

NOTES
MUSCLE TUMORS

RHABDOMYOSARCOMA (RMS)
osms.it/rhabdomyosarcoma

PATHOLOGY & CAUSES

▪ Highly malignant tumor arising from
skeletal muscle cells

TYPES
Alveolar

Embrional
▪ Most common, frequently children
▫ Botryoid, spindle-cell Figure 116.1 The histological appearance
rhabdomyosarcoma of a rhabdomyosarcoma, alveolar subtype.
The cells are small, with little cytoplasm with
Pleomorphic (anaplastic) bland chromatin structures visible.
▪ Worst outcome, frequently adults

CAUSES
▪ Genetic translocation determining fusion of
two genes which encode two transcription
factors
▫ FOXO1, PAX3
▪ FOXO1-PAX3 fusion protein interferes
with differentiation-driven gene expression
program → poorer outcome

RISK FACTORS
▪ Syndromes, congenital anomalies (e.g.
Li–Fraumeni syndrome, neurofibromatosis Figure 116.2 The histological appearance of
type I, Beckwith–Wiedemann syndrome, a rhabdomyosarcoma, embryonal subtype.
Costello syndrome) The tumor is composed of numerous round
or spindled cells, either with minimal or
COMPLICATIONS abundant eosinophilic cytoplasm.
▪ Metastasis
▪ Bone marrow involvement: anemia,
thrombocytopenia, neutropenia

OSMOSIS.ORG 677
 SIGNS & SYMPTOMS TREATMENT
▪ Palpable mass MEDICATIONS
▫ Localization: head/neck, genitourinary ▪ Polychemotherapy
tract, limbs, abdomen ▪ Immunotherapy
▪ Depending on tumor size
▫ Hematuria, urinary obstruction SURGERY
(genitourinary tract involvement)
▪ Resection
▫ Sinusitis, headache, cranial nerve
alterations, ear discharge, orbital
swelling (head involvement) OTHER INTERVENTIONS
▪ Radiation therapy

DIAGNOSIS
DIAGNOSTIC IMAGING
X-ray, CT scan, MRI, ultrasound
▪ Determines local invasion, metastasis

LAB RESULTS
▪ Liver, renal function tests
▪ Complete blood count
▫ Anemia, pancytopenia
▪ Biopsy
▫ Microscopic analysis
▫ Immunohistochemical studies showing Figure 116.3 The gross pathological
muscle tissue-characteristic proteins appearance of a rahbdomyosarcoma,
▫ Genetic sequencing embryonal subtype. The tumor is poorly
circumscribed with a firm texture and is
cream to white in color.

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