Pleuropulmonary Blastoma - Childhood: Latest Research

Approved by the Cancer.Net Editorial Board, 06/2022

ON THIS PAGE: You will read about the scientific research being done to learn more about this type of tumor and how to treat it. Use the menu to see other pages.

Doctors are working to learn more about pleuropulmonary blastoma (PPB), ways to prevent it, how to best treat it, and how to provide the best care to people diagnosed with this disease. The following areas of research may include new options for patients through clinical trials. Always talk with your child’s doctor about the best diagnostic and treatment options for your child.

  • Genetic causes of PPB. As explained in Risk Factors, researchers are continuing to investigate the link between a genetic mutation in DICER1 and PPB in families. Research into causes and treatment for a rare tumor like PPB requires collecting information from many hospitals. The International PPB Registry is the largest such collection of information on PPB in the world. (Please note this link takes you to a separate website.) This registry has approval from the participating institutions’ Institutional Review Boards to ensure the protection of patients’ privacy.

  • Treatment guidelines. Currently, there are no widely used treatment schedules for PPB because it is so rare. Individual doctors use research and their experience in treating similar conditions, such as soft-tissue sarcomas, to guide their PPB treatment recommendations. Plans are underway to create an international consortium of pediatric oncology specialists from around the world to consider treatment options and make specific recommendations for treating people with PPB.

  • Screening guidelines. Doctors consider screening for genetic testing for DICER1 in a person who has at least 1 major feature and 2 minor features as listed below:

    Major features:

    A diagnosis of PPB (any type)

    A lung cyst in childhood

    Thoracic embryonal rhabdomyosarcoma, a type of soft-tissue sarcoma

    Cystic nephroma, a benign kidney tumor

    Sarcoma in the genitourinary tract, including undifferentiated sarcoma

    Ovarian Sertoli-Leydig cell tumor

    Gynandroblastoma, a rare ovarian tumor

    Uterine, cervical, or ovarian embryonal rhabdomyosarcoma

    Neuroendocrine tumor in the genitourinary or gynecologic system

    Thyroid nodules or cancer in 2 or more first-degree relatives (such as a parent or child)

    Thyroid nodules or differentiated thyroid cancer in childhood

    Ciliary body medulloepithelioma, a type of childhood eye tumor

    Nasal chondromesenchymal hamartoma, a benign tumor in the nasal sinus area

    Pineoblastoma, a cancerous tumor of the brain’s pineal gland

    Pituitary blastoma, an aggressive tumor of the pituitary gland

    Minor features

    A lung cyst in an adult

    Renal (kidney) cysts

    Wilms tumor, a childhood kidney cancer

    Thyroid nodules or differentiated thyroid cancer in an adult

    Embryonal rhabdomyosarcoma not listed under "Major features" (see above)

    Neuroendocrine tumor that is poorly differentiated

    Undifferentiated sarcoma somewhere besides the genitourinary tract

    Macrocephaly, an overly large head size in childhood

    Childhood cancers associated with any Minor features

    Clinical Cancer Research 2018 May 15;24(10):2251-2261. doi: 10 (Table 1).

    If a person is found to have DICER1, doctors will consider screening them further for specific conditions based on specific signs and symptoms that are reported to the doctor or found on a physical exam to look for problems (including those listed above in Major and Minor Features) in these main body systems:

    • Lung system – Symptoms include abnormally rapid breathing, cough, fever, pain, and a collapsed lung. Screening tests include regular chest x-rays or a chest CT scan.

    • Thyroid gland – Symptoms include a nodule or growth on the thyroid gland that is visible or can be easily felt, persistent enlargement of neck lymph nodes, hoarseness, difficulty swallowing, neck pain, and cough. Screening tests include regular thyroid ultrasounds and regular physical exams to check the thyroid.

    • Gynecologic system – Symptoms include dark, coarse, male-pattern hair growth in females, development of other male characteristics such as a deepening voice in females, and abdominal pain, expansion, or a mass. Screening tests include regular pelvic and abdominal ultrasounds.

    • Kidneys/genitourinary system – Symptoms include an abdominal mass or pain, or blood in the urine. Screening tests include regular abdominal ultrasounds.

    • Gastrointestinal system – Symptoms include any sign of intestinal obstruction, such as cramps, constipation, vomiting, or abdominal swelling. Doctors will talk with a person about what screening tests may be appropriate for them.

    • Central nervous system (CNS) and the head and neck system – This includes symptoms that do not involve the thyroid gland (see above), such as headaches, vomiting, double-vision, inability to look upward, difficulty walking, premature puberty, Cushing’s syndrome, vision problems, and nasal obstruction. Screening tests include regular physical exams, annual ophthalmologic exam including visual acuity screening, as well as magnetic resonance imaging (MRI) for emergency symptoms inside the skull.

    Source: Clinical Cancer Research 2018 May 15;24(10):2251-2261. doi: 10 (Table 2).

    Doctors are looking at ways to screen children for PPB and other cancers related to DICER1 genetic mutations. For PPB, screening guidelines will help doctors know when it’s best to use a computed tomography (CT) scan to look for possible lung cysts or tumors, particularly for children under the age of 3. MRIs of the brain for children with the DICER1 germline mutation are also being evaluated for screening guidelines.

Looking for More about Latest Research?

If you would like more information about the latest areas of research in PPB, explore these related items that take you outside of this guide:

The next section in this guide is Coping with Treatment. It offers some guidance on how to cope with the physical, emotional, social, and financial changes that cancer and its treatment can bring. Use the menu to choose a different section to read in this guide.