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

• Low-Grade Malignant Myxoid Endobronchial Tumor
• Low-Grade Malignant Myxoid Endobronchial Tumour
• Myxoid Sarcoma of Lung with EWSR1-CREB1 Translocation

What is Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation? (Definition/Background Information)

• Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation is an extremely uncommon tumor affecting the lung airways. It is characterized by the presence of a fusion gene between EWSR1 and CREB1 genes
• Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation is typically seen in young women. The cause of formation of the tumor is unknown and presently the risk factors are not well-established
• The tumor is often present as a nodule or mass affecting the bronchus/airway. It may present obstructive signs and symptoms including cough and breathlessness
• The treatment of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation involves surgery, which can be curative. However, regular follow-up is advised following a surgical removal of the tumor
• In a majority of cases, the prognosis of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation is excellent with early appropriate treatment. However, the prognosis may be adversely affected by tumor metastasis, in which case the condition can be fatal

Who gets Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation? (Age and Sex Distribution)

• Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation is an extremely rare tumor with only around 15 cases being reported in the medical literature
• The condition is generally observed in young adults
• Even though both males and females are affected, a strong preference for females is observed
• No specific racial or ethnic group predilection is noted

What are the Risk Factors for Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation? (Predisposing Factors)

• Currently, no definite risk factors have been identified for Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation
• Smoking has been observed in a majority of the individuals with this tumor
• However, no family history of lung cancer, or other associated genetic syndromes, predisposing one to lung cancer, have been noted

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones 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 Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation? (Etiology)

• The cause of development of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation is generally unknown
• The tumor is defined by the fusion gene it exhibits; this fused gene is derived from the EWSR1 and CREB1 gene

What are the Signs and Symptoms of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation?

The signs and symptoms of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation may include the following:

• Presence of a well-circumscribed mass or nodule in the airways (or bronchus), termed endobronchial tumor
• The tumors are typically less than 4 cm in size
• Large tumors may involve spread into the lung tissue
• The growth of the tumor mass may obstruct the airway
• Tumors affecting the bronchus can cause obstructive symptoms including chest pain, cough, breathing difficulties, and blood in sputum
• When metastasis is noted, it may result in weight loss, fatigue, and other systemic symptoms

Some small-sized tumors may remain asymptomatic and present no symptoms.

How is Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation Diagnosed?

There are a variety of tests the healthcare provider may employ to diagnose Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation, which may include:

• Physical examination and complete medical history screening: During the physical exam, the healthcare provider may listen to the lung  with a stethoscope, to detect the presence of any abnormal lung sounds
• Imaging studies that may include a chest X-ray, MRI or CT scan of the lungs
• Arterial blood gases
• Lung function test
• Sputum cytology: This procedure involves the collection of mucus (sputum), coughed-up by the patient, which is then examined in a laboratory by a pathologist

A tissue biopsy refers to a medical procedure that involves the removal of cells or tissues, which are then examined by a pathologist. This can help establish a definitive diagnosis. The different biopsy procedures may include:

• Bronchoscopy: During bronchoscopy, a special medical instrument called a bronchoscope is inserted through the nose and into the lungs to collect small tissue samples. These samples are then examined by a pathologist, after the tissues are processed, in an anatomic pathology laboratory
• Thoracoscopy: During thoracoscopy, a surgical scalpel is used to make very tiny incisions into the chest wall. A medical instrument called a thoracoscope is then inserted into the chest, in order to examine and remove tissue from the chest wall, which are then examined further
• Thoracotomy: Thoracotomy is a surgical invasive procedure with special medical instruments to open-up the chest. This allows a physician to remove tissue from the chest wall or the surrounding lymph nodes of the lungs. A pathologist will then examine these samples under a microscope after processing the tissue in a laboratory
• Fine needle aspiration biopsy (FNAB): During fine needle aspiration biopsy, a device called a cannula is used to extract tissue or fluid from the lungs, or surrounding lymph nodes. These are then examined in an anatomic pathology laboratory, in order to determine any signs of abnormality. Nevertheless, FNAB is not a preferred method for the biopsy of lung tumors
• Autofluorescence bronchoscopy: It is a bronchoscopic procedure in which a bronchoscope is inserted through the nose and into the lungs and measure light from abnormal precancerous tissue. Samples are collected for further examination by a pathologist

Tissue biopsy from the affected lung:

• A 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
• Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, flow cytometric analysis and very rarely, electron microscopic studies, to assist in the diagnosis
• FISH and PCR analysis to detect the presence of the EWSR1-CREB1 fused gene

A differential diagnosis with respect to other lung cancer types may be necessary prior to establishing a definite diagnosis, by excluding the following cancers:

• Mesenchymal chondrosarcoma affecting the lung or pleura
• Epithelial-myoepithelial lung carcinoma

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 Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation?

The complications of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation may include the following:

• Severe obstruction of the airways in case of a large-sized tumor
• Pneumonia
• Metastasis of the tumor to the brain and kidneys are known to take place
• Recurrence of the tumor following its surgical removal is uncommon

There may be complications related to the methods used in treating the condition and may include:

• Side effects of radiation therapy that may include sunburn-like rashes, where radiation was targeted, red or dry skin, heaviness of the breasts, and general fatigue
• Side effects of chemotherapy, which may include nausea, vomiting, hair loss, decreased appetite, mouth sores, fatigue, low blood cell counts, and a higher chance of developing infections
• The treatment can also cause infertility in men and women. Hence, measures to protect the individual’s fertility must be considered, before starting chemotherapy

How is Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation Treated?

The treatment of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation may involve the following:

• The treatment of choice is complete surgical excision. This can result in a cure, if the tumor is confined to the lung and can be completely removed
• Additionally, chemotherapy and/or radiation therapy may be necessary
• Follow-up care with regular screening and check-ups are important and encouraged

How can Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation be Prevented?

Currently, there are no known methods to prevent the development of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation.

What is the Prognosis of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation? (Outcome/Resolutions)

• The prognosis of Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation is generally good with early detection and appropriate treatment (complete surgical excision of the tumor)
• Rare cases of tumor metastasis, due to delayed diagnosis and inadequate treatment, have been noted. In such cases, the prognosis is poor

Additional and Relevant Useful Information for Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Translocation:

The fused gene EWSR1-CREB1 is also present in the following tumors:

• Clear cell sarcoma
• Angiomatoid fibrous histiocytoma

However, the above tumors are morphologically (and significantly) different from pulmonary myxoid sarcoma presenting the EWSR1-CREB1 gene fusion.