Rhabdomyoma

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nima Nasiri, M.D.[2] Simrat Sarai, M.D. [3]

Synonyms and keywords: Rhabdomyomatous neoplasm; Adult rhabdomyoma; Genital rhabdomyoma; Fetal rhabdomyoma

Overview

Rhabdomyoma is a benign tumor of striated muscle, develops mostly before the age of one year, almost exclusively in children, and approximately 80 to 90 percent are associated with tuberous sclerosis. The most common primary benign pediatric tumor of the heart is cardiac rhabdomyoma which can be seen mainly in fetal life and children, second most common primary benign cardiac tumor in children is fibroma. Most tumors regress spontaneously, prognosis depends on the location of tumor and size. Cardiac rhabdomyoma is strongly associated with tuberous sclerosis and some other anomalies. Rhabdomyomas are rare and can be classified into two types: cardiac type and extracardiac type. Cardiac rhabdomyoma is seen almost always in the pediatric age group and is associated with tuberous sclerosis, neurofibromatosis, and sebaceous adenomas. Extracardiac rhabdomyoma can be divided into three groups (adult, fetal, and genital types) with distinct clinical and morphological differences. The adult type is a slowly growing mass typically involves the head and neck. Fetal type, the lesion also is seen in the head and neck region. The genital type is almost always found in the vulvovaginal region of older women patients. Treatment of adult type rhabdomyoma of head and neck depends on the severity of clinical symptoms, conservative management or surgery may be necessary.

Classification

• Rhabdomyoma may be classified into the following subtypes:
• Neoplastic

• Adult
• Fetal
• Genital

• Hamartoma

• Cardiac rhabdomyoma
• Rhabdomyomatous mesenchymal hamartomas of the skin(RMH) which is a rare congenital malformation involving the dermis and subcutaneous tissue, it can present as skin tag or even trigeminal neualgia case reported.

Staging

There have not been sufficient studies for the staging of rhabdomyoma. There is staging based on site, tumor size and metastases for rhabdomyosarcoma, which is a malignant tumor of striated muscle.

Pathophysiology

Pathogenesis

• Cardiac rhabdomyoma is usually diagnosed during the second or third trimester on ultrasound, rhabdomyoma appears as round, homogeneous, hyperechogenic masses in the ventricles, and they sometimes appear as multiple foci in the ventricles and septal wall. Differential diagnosis between rhabdomyoma, fibroma or myxoma using ultrasonography for a single cardiac mass remains difficult.
• Cells usually lose their ability to divide and undergo apoptosis via a ubiquitin-mediated pathway and regression of the hamartoma ensues.
• Result can be complete or partial regression of hamartoma tumor.

Location

• Approximately 90% of adult rhabdomyoma are found in head and neck.
• Adult rhabdomyoma is localized to the oropharynx, the larynx, and the muscles of the neck.
• Fetal rhabdomyoma occurs most often in the subcutaneous tissues of the head and neck in children.
• Genital rhabdomyoma most often involves the vagina or vulva.
• Location of cardiac rhabdomyoma determines the clinical presentation, it usually is multi foci and involves the myocardium of both ventricles and/or the interventricular septum, but can be found in the atrium as well as endocardium.

Immunohistochemistry

• Immunohistological cell markers include:
  • Muscle specific actin, phosphotungstic acid hematoxylin (PTAH), desmin, and myoglobin.
  • Dystrophin is shown to be expressed in the cell membranes.

Associated Conditions

• Cardiac rhabdomyoma is associated with a variety of abnormalities such as :
  • Tuberous sclerosis (most common associated genetical abnormality)
  • Brain lesions
  • Down syndrome
  • Wolff-Parkinson-White syndrome (WPW)
  • Ebstein anomaly
  • Tetralogy of Fallot
  • Hypoplastic left heart syndrome

Gross Pathology

• On gross pathology, round or polypoid mass in the region of the neck are characteristic findings of adult rhabdomyoma.
  • Round or lobulated, well-circumscribed masses which can be up to 10 cm in diameter.
  • Isolated or multiple.
  • Solid tan-white homogeneous consistency, often watery and glistening on their cut surface.
  • Infrequently, calcification and hemorrhage.

Cardiac rhabdomyoma Gross. Source: http://peir2.path.uab.edu/pdl/dbra.cgi?uid=default&view_search=1

Microscopic Pathology

• On microscopic histopathological analysis, characteristic findings of adult rhabdomyoma include:
  • Polygonal cells with eosinophilic granular cytoplasm that is mixed with intracellular vacuolated cells.
  • Rhabdomyomas are very well differentiated similarly to striated muscle cells which present markers such as actin, desmin, and myoglobin; dystrophin on their cell membranes.
• Histopathologic findings of fetal rhabdomyoma include spindle-shaped cells with vacuolated clear cytoplasm due to loss of glycogen or granulated ones.
• On microscopic histopathological analysis, characteristic findings of genital rhabdomyoma include:
  • fibroblast cells among them mature striated cells.
  • A matrix containing varying amounts of collagen and mucoid material
• On microscopic histopathological analysis, characteristic findings of cardiac rhabdomyoma include of classic "spider cells" muscle cells similar to embryonic myofibrils.
• On microscopic histopathological findings of Rhabdomyomatous mesenchymal hamartoma (RMH) which is a rare congenital lesion of the dermis and soft tissues consisting of a disordered and varied collection of mature adipose tissue, skeletal muscle, adnexal elements, and nerve bundles. Rhabdomyomatous mesenchymal hamartoma has different names including striated muscle hamartoma, congenital midline hamartoma, and hamartoma of cutaneous adnexa and mesenchyme. Several published cases report the occurrence of RMH within the setting of other uncommon congenital abnormalities.

fetal rhabdomyoma H&E stain [https:https://en.wikipedia.org/wiki/Rhabdomyoma#/media/File:Fetal_intermediate_cellular_type_rhabdomyoma.JPG source:Jerad M Gardner, MD]

Causes

• Adult rhabdomyomas are matured neoplasms of clonal origin.
• Cardiac rhabdomyoma may be caused by either sporadic mutation or in the setting of certain genetic disorders.
• The genetic disorder commonly associated with cardiac rhabdomyoma is tuberous sclerosis. Other genetic disorders associated with cardiac rhabdomyomas include basal cell nevus syndrome and Down syndrome in the setting of tuberous sclerosis.
• The familial form of tuberous sclerosis are hamartomas that can involve the kidneys, heart, skin, brain, and other organs.
• Cardiac rhabdomyoma can be the only presenting sign of tuberous sclerosis and there are strongly related, in fact, tuberous sclerosis in a fetus can be detected as cardiac rhabdomyoma on ultrasound.
• Molecular evidence of this association has been identified as the TSC2 gene missense mutation.
• Cardiac rhabdomyoma is caused by a mutation in the TSC-1 on chromosome 9q34 that encodes for protein hamartin, and TSC-2 on 16p13 that encodes for tuberin. These genes are both tumor suppressor genes that assist in the regulation of growth and differentiation of developing cardiomyocytes

Differentiating Rhabdomyoma from Other Diseases

• Rhabdomyomas must be differentiated from other diseases, such as:

• Fibroma
• Rhabdomyosarcoma
• Hibernoma
• Reticulohistiocytoma
• Tuberous sclerosis
• Granular cell tumors

Epidemiology and Demographics

• Cardiac rhabdomyomas are usually detected during the first year of life or before birth and accounts for majority of all primary cardiac tumors.
• Worldwide, rhabdomyoma is rare.
• Most of patients with tuberous sclerosis develop a cardiac rhabdomyoma. Similarly, children diagnosed with cardiac rhabdomyomas demonstrate radiologic or clinical findings of tuberous sclerosis or have a positive family history. Rhabdomyoma is extremely rare in the United States. Rhabdomyoma has a relative incidence of 5.8%.

Age

• Adult rhabdomyoma is more commonly observed among patients aged greater than 40 years old.
• Fetal rhabdomyoma is more commonly observed among patients aged between birth and 3 years.
• Cardiac rhabdomyoma is more commonly observed among patients in the pediatric age group.
• Genital rhabdomyoma is more commonly observed among patients in the young and middle-aged women.
• Rhabdomyomatous mesenchymal hamartomas of the skin is more commonly observed among newborns and infants.

Gender

• Cardiac rhabdomyoma affects men and women equally.
• Rhabdomyomatous mesenchymal hamartoma of skin is extremely rare in both genders.
• Males are more commonly affected with adult rhabdomyoma than females.
• Males are more commonly affected with fetal rhabdomyoma than females.
• Females are more commonly affected with genital rhabdomyoma than males.

Race

• There is no racial predilection for rhabdomyomas.

Risk Factors

• There are no established risk factors for rhabdomyoma.

Natural History, Complications and Prognosis

Natural History

• The majority of cases regress spontaneously(partial or complete),however there are reported cases which surgical interventions were necessary,especially if tumor causes cardiac symptoms such as arrhythmia or obstruction.
  • Early clinical features include heart failure, cardiac murmur, and arrhythmia.
  • Tumors larger in diameter are more likely to cause arrhythmias or hemodynamic instability, which are associated with an increased risk of death.
  • The majority of patients with cardiac rhabdomyoma remain asymptomatic; however, some affected patients become symptomatic in the perinatal period.

Complications

• Common complications of cardiac rhabdomyoma include development of cardiac arrhythmias, ventricular outflow tract obstruction, and congestive heart failure.

Prognosis

• prognosis is generally good; the survival rate of patients with benign rhabdomyoma is excellent, depending on location of tumor, prognosis may change.
• Rhabdomyomas on mitral or tricuspid valves can lead to regurgitation or obstruction of outflow tract thus poor prognosis.
• The long-term prognosis of cardiac rhabdomyoma is affected by the neurologic manifestations associated with tuberous sclerosis.
• The prognosis of patients with rhabdomyomas depends mainly on the size, location, number of the lesions, associated anomalies such as tuberous sclerosis.
• Metastases have not been associated with rhabdomyoma.

Diagnosis

Symptoms

• Symptoms of adult rhabdomyoma may include:

• Hoarseness
• Difficulty breathing
• Difficulty swallowing(dysphagia)
• laryngeal mass
• In a very rare occassion can present with symptoms of hyperparathyroidism if it involves parathyroid gland.

• Symptoms of genital rhabdomyoma may include the following:

• Painful sexual intercourse due to medical or psychological causes

• Symptoms of cardiac rhabdomyoma may include the following:

• Shortness of breath

• • In cardiac rhabdomyoma, symptoms if present, may be caused by obstruction of blood flow through the heart or consist of rhythm disturbances, such as heart block and ventricular tachycardia.

Physical Examination

• Physical examination may be remarkable for:
• The presence of a round or polypoid mass in the region of the neck in adult rhabdomyoma
• Subcutaneous masses in the head and neck regions in fetal rhabdomyoma
• Vaginal masses in genital rhabdomyoma
• Cardiac rhabdomyoma may present with mitral or tricuspid regurgitation murmur.

Laboratory Findings

• There are no specific laboratory findings associated with rhabdomyoma.
• The following laboratory studies may be ordered to rule out additional conditions:
  • Complete blood count (CBC)
  • Hemoglobin/hematocrit
  • Platelet count
  • Urinalysis

Imaging Findings

• MRI is the imaging modality of choice for rhabdomyoma. Chest CT scan may be helpful in the diagnosis of cardiac rhabdomyoma.
• On ultrasound, rhabdomyoma is identified by single or multi foci hyper echoic mass(es) located adjacent to the myocardium.
• X-Rays of the chest and affected areas of the body may be helpful in the diagnosis of rhabdomyomas.

fetal cardiac rhabdomyoma source:Case courtesy of Dr Effendi Mansoor, <a href="https://radiopaedia.org/">Radiopaedia.org</a>. From the case <a href="https://radiopaedia.org/cases/17302">rID: 17302</a>

Other Diagnostic Studies

• Rhabdomyoma may also be diagnosed using biopsy since overlap in morphologic features between rhabdomyosarcoma (RMS) vs. rhabdomyoma makes differential diagnosis difficult.
• Any masses, including those found in the head and neck of patients with adult rhabdomyoma, should be biopsied to establish a diagnosis.

Treatment

Medical Therapy

• Treatment for rhabdomyoma is supportive care.
• patients with rhabdomyoma should be monitored with echocardiography and electrocardiography.

Adult rhabdomyoma

• Patients with laryngeal rhabdomyoma need immediate care such as nasal oxygen, intravenous fluids and if respiratory distress develops intubation before admission for surgery and surgical excision.
• Patients with adult rhabdomyoma and shortness of breath should restrain from activities which exacerbate their breathing difficulty.

Cardiac rhabdomyoma

• Pharmacological treatment available for fetal cardiac rhabdomyoma is everolimus.
• Patients with arrhythmias are treated with antiarrhythmic medications.
• Restriction on physical activities in those patients with cardiac clinical symptoms.
• Asymptomatic children with TSC and a rhabdomyoma should have echocardiography every one to three years until regression of cardiac rhabdomyoma is documented.

Genital rhabdomyoma

• In patients with genital rhabdomyoma, urinary tract obstruction may happen, therefore catheterization use may be necessary in order to avoid urinary tract infection.

• Pregnant patients need to be monitored closely, as they may require a cesarean delivery.

Surgery

Adult rhabdomyoma

• Surgical resection of the tumor can only be performed for patients with adult rhabdomyoma if airway obstruction is diagnosed, there have been reports of rare cases of laryngeal rhabdomyoma which may cause breathing difficulty for patients.

Cardiac rhabdomyoma

• In patients with cardiac rhabdomyoma who have symptoms of severe outflow tract obstruction or arrhythmias, surgical intervention can be helpful. Surgical management involves removal of the part of the tumor causing obstruction without complete excision of the entire lesion.

Prevention

• There are no primary preventive measures available for rhabdomyoma.