Benign PEComa

Benign PEComa

Article
Women's Health
Diseases & Conditions
+1
Contributed byMaulik P. Purohit MD MPHAug 06, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Benign Clear Cell Myomelanocytic Tumor
  • Benign Perivascular Epithelioid Cell Tumor
  • Benign Perivascular Epithelioid-Cell Differentiation Tumour

What is Benign PEComa? (Definition/Background Information)

  • PEComa is a group of soft tissue tumors that show perivascular epithelioid-cell (PEC) differentiation. PEComa tumors may be benign, malignant, or they may be of uncertain malignant potential
  • The most common type of PEComas are angiomyolipoma (AML) and lymphangioleiomyomatosis (LAM) type of tumors. Other forms of PEComas are generally rare. These tumors are seen among a wide age range of individuals, usually adults
  • Benign PEComa tumors can be associated with a syndrome (tuberous sclerosis) in some cases. In a majority of cases, it may not be associated with a syndrome or genetic disorder. The cause of tumor formation is due to genetic defects or mutations
  • It can occur at various locations in the body, such as the abdominal cavity, pelvic region (uterus in women), and the gastrointestinal tract
  • Small-sized tumors may not present any significant signs and symptoms, while large tumors may compress the surrounding organs and structures causing pain and mass effect
  • Typically, a surgical excision of the Benign PEComa with its entire removal may be undertaken. In some cases, the healthcare provider may advise a ‘wait and watch’ approach
  • The prognosis of Benign PEComa is generally excellent with its complete removal, in many cases. The recurrence risk is generally low

Who gets Benign PEComa? (Age and Sex Distribution)

  • PEComa tumors may be seen in a wide age range of individuals (3-97 years). The average age of presentation is 45 years
  • Tumors that are associated with genetic disorders or syndromes are seen to appear earlier
  • Both male and female genders are affected; though a female predominance is noted (6-7:1 female-male ratio)
  • No ethnic or racial preference is seen for Benign PEComas

What are the Risk Factors for Benign PEComa? (Predisposing Factors)

Currently, no risk factors have been noted for the sporadic Benign PEComa tumors. The sporadic cases are greater in number than cases associated with genetic disorders, per several studies.

The risk factors for PEComa may include the following:

  • Tuberous sclerosis complex: It is an inherited genetic disorder that can cause the formation of other tumor types, such as astrocytomas, rhabdomyomas, phakomas, oncocytomas, and angiofibromas, at various body locations
  • Some PEComa tumors are associated with other genetic disorders such as the following:
    • von Recklinghausen disease (neurofibromatosis type I)
    • von Hippel-Lindau disease
    • Sturge-Weber syndrome
    • Autosomal dominant polycystic kidney disease

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Benign PEComa? (Etiology)

The cause of Benign PEComa tumor formation is due to genetic factors. Research has shown that the tumors arise from cells called perivascular epithelioid cells (PEC), which surrounds the blood vessels.

  • Currently, studies indicate defects in the following genes: TSC2 and TFE3
  • Additionally, the following chromosomal aberration is noted: Mutations in chromosome 16 due to loss of 16p (short arm)
  • A gene fusion (involving the SFPQ and TFE3 genes) was noted in one case of PEComa tumor

What are the Signs and Symptoms of Benign PEComa?

The signs and symptoms of Benign PEComa vary from one individual to another. The presentations are also based on the location and subtype of the tumor; PEComas may occur in different parts of the body.

The signs and symptoms of Benign PEComa may include:

  • Most tumors are small-sized and may not exhibit any significant signs and symptoms
  • Large tumors can affect the functioning of the organ that is involved, such as the kidney or liver. Soft tissue tumors can compress surrounding structures or organs
  • The common sites of PEComa involvement include the following:
    • Retroperitoneum
    • Abdominal and pelvic region
    • Uterus: In women, the uterine corpus is the most common site of involvement
    • Gastrointestinal tract
  • In sporadic cases (when not associated with tuberous sclerosis), the tumors are usually single. Often with sporadic tumors, they tend to be larger and so pain may be observed
  • With tuberous sclerosis (TS), multiple tumors may be seen around the body or in the same organ. Tumors present with TS are generally known to be more asymptomatic and often discovered incidentally

How is Benign PEComa Diagnosed?

A diagnosis of Benign PEComa may involve the following tests and procedures:

  • Complete physical exam with evaluation of medical history: If PEComa is associated with tuberous sclerosis; then, the signs and symptoms of tuberous sclerosis may be noted. This can also help the healthcare provider to suspect the condition
  • Radiological imaging studies, such as ultrasound, CT, MRI scans, of the affected region
  • Vascular angiographic studies of the tumor

Although the above modalities can be used to make an initial diagnosis, a tissue biopsy of the tumor is necessary to make a definitive diagnosis to begin treatment. The tissue for diagnosis can be procured in multiple different ways which include:

  • Fine needle aspiration (FNA) biopsy of the tumor: A FNA biopsy may not be helpful, because one may not be able to visualize the different morphological areas of the tumor. Hence, a FNA biopsy as a diagnostic tool has certain limitations, and an open surgical biopsy is preferred
  • Core biopsy of the tumor
  • Open biopsy of the tumor

Tissue biopsy:

  • A tissue biopsy of the tumor is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
  • Biopsy specimens are studied initially using Hematoxylin and Eosin staining. The pathologist then decides on additional studies depending on the clinical situation
  • The tumors may have varying proportions of blood vessels, smooth muscle, and fat cells, when examined by a pathologist under a microscope
  • Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, and very rarely, electron microscopic studies to assist in the diagnosis

A differential diagnosis, to eliminate the following tumor types is considered, before arriving at a definite diagnosis:

  • Adipocytic tumor
  • Clear cell sarcoma
  • Gastrointestinal stromal tumor (GIST)
  • Melanoma
  • Smooth muscle tumor

The diagnostic criteria for Benign PEComa is given below:

  • Size of the tumor is less than 5 cm
  • The tumors do not display any infiltration to surrounding tissues or structures
  • Non-high nuclear grade and cellularity
  • Mitotic rate ≤1 per 50 high power field when examined under a microscope
  • Tumor necrosis and vascular invasion is absent

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Benign PEComa?

The complications are dependent on the site, size, and subtype of the tumor. The complications of Benign PEComa may include:

  • Large and deep-seated tumors may severely affect the functioning of vital organs
  • Damage to the muscles, vital nerves, and blood vessels, during surgery
  • Post-surgical infection at the wound site is a potential complication
  • Recurrence of the tumor following an incomplete excision; the risk of recurrence is low
  • Complications due to underlying tuberous sclerosis genetic disorder

How is Benign PEComa Treated?

The treatment measures for Benign PEComa may include the following:

  • Surgical intervention with complete excision can result in a complete cure. It can also help reduce the chances of tumor recurrence
  • Tumor embolization (performed on a case-by-case basis) is a possible treatment option. Here the blood supply to the tumor is blocked resulting in its shrinkage or death
  • Treatment of the underlying or associated conditions, if any
  • Post-operative care is important: A minimum activity level is ensured, until the surgical wound heals
  • Follow-up care with regular screening may be recommended by the healthcare provider

How can Benign PEComa be Prevented?

Current medical research has not established a method of preventing both syndromic and non-syndromic forms of Benign PEComa. However, in case it is associated with genetic disorders, such as tuberous sclerosis, then the following may be considered:

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as tuberous sclerosis
  • Regular medical screening at periodic intervals (long-term) with tests and physical examinations are recommended

What is the Prognosis of Benign PEComa? (Outcomes/Resolutions)

  • The prognosis of Benign PEComa is generally excellent with treatment in many cases. The risk of recurrence following treatment is very low (about 2%)
  • However, the prognosis may also depend upon the site of involvement of the tumor, severity of the signs and symptoms, its association with tuberous sclerosis, and response to therapy

Additional and Relevant Useful Information for Benign PEComa:

  • An angiomyolipoma (AML) is a benign tumor that is a mixture of blood vessels (angio-), smooth muscles (myo-), and fat (or lipoma). The tumor is seen among a wide age range of adults and can occur at various locations in the body. But, the most common location is the kidney

The following link will help you understand angiomyolipoma:

http://www.dovemed.com/diseases-conditions/angiomyolipoma-kidney/

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Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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