Embrional rhabdomyosarcoma

Embrional rhabdomyosarcomaEmbrional rhabdomyosarcoma is the most common subtype of rhabdomyosarcoma, which affects children and adolescents.


Description

Rhabdomyosarcoma is a soft tissue tumor,which most often occur in children and adolescents. Rarely, it is seen in adults over 40. Common sites where rhabdomyoma develops are head and neck (40%), genitourinary tract (20%), retroperitoneual cavity and the limbs. The tumor arises from mesenchymal cells (the precursors of skeletal muscles), that don’t differentiate normally.

There are several types of rhabdomyosarcoma distinguished – alveolar, embryonal, which comprises 60% of cases, and anaplastic rhabdomyosarcoma.

 

Incidence

Annually occur 4.5 cases per million. The majority of the cases occur in children under 10 years, usually a person is at the age of 6-8 years when the diagnosis is made. The prevalence is a bit higher among males with a male to female ratio of 1.3:1.
Embryonal rhabdomyosarcoma accounts for approximately 60% of all rhabdomyosarcomas and affects children younger than 15 years.

Read also: Fibrosarcoma

Causes

Mutations in the RAS and FGFR4 genes, 11p15 are associated with embryonal rhabdomyosarcoma.

Both alveolar and embryonal subtypes are characterized by the overexpression of insulin growth factor 2 (IGF2).

 

Risk factors

The tumor may be associated with other congenital disorders such as:

  • neurofibromatosis type 1;
  • Beckwith-Wiedemann syndrome;
  • Li–Fraumeni syndrome;
  • cardio-facio-cutaneous syndrome;
  • Noonan syndrome;
  • pleuropulmonary blastoma;
  • Costello syndrome.

Possible link to parental use of cocaine and marijuana was reported.

 

Symptoms

The typical sites of the tumor are the orbit, the genitourinary tract and the retroperitoneum.

Common symptoms of rhabdomyosarcoma are the swelling/painful palpable mass at the site of origin along with other local symptoms – displacement of the eye, vaginal bleeding, dysuria, etc.

Rhabdomyosarcoma of the head and neck may be suspected when the following symptoms are present: diplopia (doubled vision), exophtalmos (bulging of the eyeball), headache, congestion, nasal discharge, cranial nerve palsy, obstruction, dysphagia, hearing or vision loss. Genitourinary rhabdomyosarcoma may cause urinary tract obstruction or constipation. Abdominal or pelvic manifestations include abdominal pain and abdominal mass, ascites, haematuria.

Embryonal rhabdomyosarcoma tends to disseminate widely, commonly to lungs, bones, bone marrow and brain.

 

Diagnosis

The diagnosis is made based on:

  • Radiographic imaging of the site of origin, chest X-ray;
  • CT of the chest, tumor site;
  • MRI of the tumor site;
  • Total body bone scan;
  • Biopsy of the lesion;
  • Bone marrow biopsy;
  • Lumbar puncture (only for parameningeal RMS)

 

Biopsy

The tumor consists of of round cells that remind embryonal cells. One subtype of embryonal myosarcoma known as the botryoid type usually locates in the visceral organs such as the vagina and the bladder. This neoplasm has a polypoid appearance and remind a “bunch of grapes”.

 

Treatment

Treatment depends on the size of the tumor, its location and spread. Surgery solely is used when the tumor is localized. Some round cell tumours such as embryonal rhabdomyosarcoma, lymphoma or plasmacytoma require nonsurgical

protocols.The combination of surgery, chemotherapy, radiotherapy and immunotherapy is usually used.

 

Applicable medicines

Chemotherapy agents which are used in the treatment of rhabdomyosarcoma include vincristine, actinomycin D, doxorubicin, cyclophosphamide, ifosfamide, etoposide, melphalan and cisplatin.

 

Prognosis

Embryonal histology of the tumor usually indicates the better outcome. However, the older individual is the worse becomes the prognosis.  

In general the survival rate is 70-75%. The five-year survival rate for low-risk is 95%, intermediate-risk – 65% and high risk – 15%.

 

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