Pleuropulmonary blastoma (PPB) is a rare, aggressive type of childhood soft tissue cancer that primarily occurs in the chest, lungs, pleura (tissue lining the lungs), and the organs and tissues in between the lungs such as the aorta, pulmonary artery, heart, and diaphragm. Unlike other types of lung cancer, PPB has no correlation to lung cancers in adults that are often associated with excessive tobacco use or carcinogenic exposure. It is usually seen in the first few years of life, with 90% of cases seen in children under age 2. Early detection, accurate diagnosis, and prompt treatment are crucial for better outcomes.
blastoma

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Causes

Although the exact cause of pleuropulmonary blastoma is still undiscovered, like any other form of sarcoma, several clinical trials and scientific studies claim that genetic mutations and abnormalities play a crucial role in its development. These sudden genetic changes force the normal lung cell to mutate into irregular-shaped cells that keep agglomerating without dying on time. This leads to tumorous structures that might metastasize to other parts of the body spreading the cancer further. In some cases, PPB might occur due to familial or genetic predisposition to the condition, while in others, it may occur sporadically without any identifiable genetic factors.

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Risk Factors

Although pleuropulmonary blastoma is considered rare cancer, certain causative factors might increase the risk of this type of cancer:

Age: PPB primarily affects children under the age of 6, with the highest incidence in infants and toddlers

Family History: A small percentage of cases may have a familial or genetic predisposition to PPB, with specific gene mutations identified in some families

Genetic Syndromes: Certain genetic syndromes, such as DICER1 syndrome, have been linked to an increased risk of developing pleuropulmonary blastoma in the childhood

Symptoms

The characteristic symptoms of pleuropulmonary blastoma can vary depending on the size and location of the tumour. These include:

  • Persistent cough
  • Mild to severe dyspnea (breathing difficulty)
  • Pneumothorax
  • Wheezing
  • Shortness of breath
  • Frequent respiratory infections like bronchitis
  • Chest PainUnexplained recurrent fever 
  • Unintentional weight loss (usually noticed in older children)
  • Fatigue
  • Loss of appetite
  • Abdominal pain
  • Cyanosis (bluish discolouration of the skin or lips)

Diagnosis

If you suspect any of the aforementioned symptoms in your kid, it is important to consult with a healthcare professional who can evaluate the situation and provide appropriate guidance and initiate the diagnosis and treatment at the earliest to avoid complications. The doctor usually acknowledges the patient's genetic and medical history and conducts the following diagnostics:

  • A thorough physical examination, including a detailed medical history review
  • Imaging tests such as chest X-rays, CT scans, or MRI scans to visualise the tumour and determine its size, location, and potential spread in the body
  • Bronchoscopy to view the inside of the trachea and large airways in the lungs for the presence of abnormalities
  • Tumour biopsy to determine the presence of malignant cells
  • Genetic Testing to identify specific gene mutations associated with the condition

Treatment

The effective treatment of pleuropulmonary blastoma chiefly depends on the stage of the cancer, the size and location of the tumour, and the overall health of the child. The available treatment options may include:

  • Surgery (to remove the tumour and any affected surrounding tissue while preserving lung function as much as possible)
  • Chemotherapy (to shrink the tumour or after surgery to eliminate any remaining cancer cells)
  • Radiation Therapy (this therapy may be used in addition to surgery and chemotherapy to target and destroy any remnant malignant cells)
  • Clinical trials
  • Supportive care