Unusual Cystic Structures in the Lungs: Is Pleuropulmonary Blastoma a Possibility for Rowan?

The discovery of unusual cystic structures in a child's lungs can provoke anxiety, particularly for us in Rowan's case. Such findings necessitate thorough evaluation, as one potential diagnosis is Pleuropulmonary Blastoma (PPB), a rare and serious tumor primarily affecting children. This article aims to unpack the details of PPB, relate it to cystic lung formations, and outline the essential actions needed for a careful assessment.

Understanding Pleuropulmonary Blastoma

Pleuropulmonary Blastoma is an unusual tumor that typically occurs in infants and young children. It develops from pleuropulmonary mesenchyme and presents in three histological patterns. The most prevalent form is a large cystic mass that can easily be misidentified as other benign lung issues, such as congenital cystic adenomatoid malformation. For instance, studies show that PPB accounts for about 0.25% to 0.5% of all pediatric tumors. We were absolutely shocked and heartbroken when the potential diagnosis of cancer was thrown at us. Referrals to oncology with a five month old was nothing we ever imagined.

Recognizing the distinctive traits of PPB is vital for prompt diagnosis, which can significantly influence treatment outcomes.

Characteristics of Cystic Structures

Cystic lung structures can be worrisome due to their association with potentially severe conditions. For Rowan, the characteristics of these cysts might include:

• Size and Shape: Cysts can range from a few millimeters to several centimeters in diameter and can have irregular shapes. Abnormal shapes can raise concerns for malignancy. In Rowan's case, his "masses" are cystic like, but also have irregular characteristics.

  
  

• Location: The placement of these cysts is crucial. For example, cysts located in the upper lobes of the lungs are more suggestive of PPB than those found in the lower lobes. Rowan's most affected lobe was his upper left lobe, closest to the heart. This is the lobe that was fully removed at six months of age in order to biopsy the cyst to check for cancer.

  
  

• Associated Symptoms: Signs such as a persistent cough, breathing difficulties, or unusual wheezing should not be overlooked. In one study, 70% of children diagnosed with PPB exhibited respiratory symptoms before diagnosis. Fortunately for Rowan, he was and has remained asymptomatic since birth.

  
  

Thorough analysis of these factors is essential to determine whether the cysts detected in Rowan's lungs are indicative of PPB or a different, less dangerous condition.

Diagnostic Procedures

When PPB is suspected, swift and accurate diagnostic strategies become imperative. The following methods are typically used:

• Imaging Techniques: Diagnostic imaging, including chest X-rays, CT scans, or MRIs, plays a key role in evaluating lung structures. Notably, a CT scan can provide detailed views that help in assessing the nature of the cystic formations.

  
  

• Biopsy: If imaging indicates PPB, a biopsy may be required. This procedure involves obtaining lung tissue samples, which can reveal the presence of cancerous cells.

  
  

• Genetic Testing: PPB is sometimes linked to specific genetic changes. Genetic testing can uncover valuable information that aids in determining the prognosis and treatment focus. Rowan underwent genetic testing when we were given this potential diagnosis. The oncologist and geneticist tested Rowan for Dicer1, which would most likely be linked to PPB. Thankfully, Rowan is negative for Dicer1.

  
  

These diagnostic tools offer essential insights that guide treatment decisions, improving Rowan's chances for a favorable outcome.

Importance of Early Detection

Early detection of Pleuropulmonary Blastoma is crucial, as this cancer can progress quickly if untreated. Research indicates that patients diagnosed at an early stage may have a survival rate exceeding 80%.

In Rowan's case, recognizing cystic structures early can lead to immediate diagnostic testing, facilitating timely treatment and potentially improving prognosis. All throughout my pregnancy, Rowan was watched very closely in utero to see how his masses were progressing. It seemed like every ultrasound revealed a new area that was affected. There was never a clear cut answer on prognosis for Rowan or these affected areas. We were told that they could completely disappear by birth, or he would need to be on a ventilator. The unknown was dreadful.

Differential Diagnosis

Given the variety of lung conditions that can present similarly to PPB, thorough differential diagnosis is critical. Conditions that may closely resemble PPB include:

• Congenital Cystic Adenomatoid Malformation (CCAM): A congenital lung defect leading to abnormal lung structures and cyst formation. This is what Rowan's main diagnosis is (otherwise known as CPAM). Rowan has multiple CPAM's (multifocal CPAM's).

  
  

• Bronchogenic Cysts: These congenital anomalies often present with cystic structures but typically lack malignancy.

  
  

• Pulmonary Infections or Abscesses: Certain infections may also create cyst-like structures but require different treatment pathways.

  
  

Understanding these possible alternatives allows healthcare providers to consider all potential causes of Rowan's cystic lung structures, ensuring accurate diagnosis.

Treatment Options

If Pleuropulmonary Blastoma is confirmed, several treatment strategies may be utilized, often requiring a team approach:

• Surgery: Surgical removal of localized PPB often represents the primary treatment and can be highly effective, especially if executed early.

  
  

• Chemotherapy: If the tumor has spread or is particularly large, chemotherapy could be necessary to reduce its size before surgical intervention.

  
  

• Supportive Care: Alongside medical treatments, respiratory therapy can support Rowan’s comfort and quality of life during therapy.

  
  

Creating a personalized treatment plan based on Rowan's specific case is essential for optimizing positive results.

Rowan's Chest CT Scan with contrast with suspicion of Pleuropulmoary Blastoma

Living with a Diagnosis

After receiving a potential diagnosis like Pleuropulmonary Blastoma, families must navigate various emotional and medical decisions. Access to specialized pediatric oncologists is crucial for providing the right care. We were fortunate enough to receive care from UNC in North Carolina. Rowan has been seen by doctors there since I was pregnant with him, and it has been superior care.

Additionally, support groups can offer emotional relief and practical tips from families in similar situations. The insights gained from these groups can be invaluable in coping with the challenges associated with serious lung conditions.

Final Thoughts

The presence of unusual cystic structures in Rowan's lungs poses a complex challenge that calls for careful attention and prompt evaluation. Although Pleuropulmonary Blastoma is uncommon, the need for an accurate diagnosis is critical.

By understanding the features of PPB, performing thorough diagnostic tests, and implementing effective treatment options, healthcare providers can have a significant impact on outcomes for young patients like Rowan. Prioritizing early detection paves the way for the best possible prognosis, allowing families to approach this difficult journey with both hope and support.

Raising awareness about conditions like Pleuropulmonary Blastoma is essential. It ensures that children experiencing unusual lung findings get the appropriate care they urgently need.

Thankfully, once Rowan had his lobectomy, the suspicion of PPB was ruled out and we are still dealing with his multifocal CPAM's. We are concerned with potential growth of the current cysts and will know more in six months when he has his next scan.