International PPB Registry for PPB, DICER1 and Associated Conditions

PPB is a rare cancer of the lung presenting in early childhood, mostly commonly from birth to
age ~72 months. PPB occurs within the lung or between the lung and the chest wall. There are
three primary forms of PPB called Types I, II, and III PPB. PPB is related to an underlying
change/mutation in a gene called DICER1 which impacts gene expression and cell growth. DICER1
mutations may also lead to the development of other tumors in children and adults.

The International PPB Registry offers information based on previous data from Registry
participants and the medical literature and collaborative efforts with international rare
tumor groups.

Retrospective central pathology review is required. Therapy decisions remain at the
discretion of the treating institution.

Children with Type I PPB require surgery and sometimes chemotherapy. Therapy decisions are
the responsibility of the treating institution. Surgical guidelines are presented. It is
unknown whether adjuvant chemotherapy improves cure rates for Type I PPB patients.
Chemotherapy options include a 22-week regimen: 4 courses of vincristine, actinomycin D and
cyclophosphamide (VAC) followed by 3 courses of vincristine and actinomycin D (VA).

Children with Types II and III PPB, require surgery, chemotherapy and sometimes radiation
therapy. Many children with Types II or III PPB receive a single-arm multi-agent chemotherapy
neo-adjuvant/adjuvant regimen of IVADo (ifosfamide, vincristine, actinomycin, doxorubicin)
for 36 weeks. Second and possible 3rd look surgery may be considered for local control.
Radiation therapy may be considered.

Inclusion Criteria:

1. Pathology Diagnosis: Individuals with newly-diagnosed PPB Types I, II or III.
Diagnosis is made by the local pathologist.

All cases must be submitted for central pathology review. Only centrally-reviewed
cases confirmed as PPB will be analyzed prospectively.

Cases in which the initial diagnosis is "suggestive" or "supportive" of PPB, but not
diagnostic, and in which later resection specimens, including resections following
chemotherapy, confirm a PPB diagnosis will be included. Patients diagnosed by fine
needle aspiration biopsy will be included only if a later resection specimen,
including resection(s) following chemotherapy, is diagnostic of PPB.

2. Prior Therapy: PPB Type I: All patients are eligible and will be followed in the
study.

3. PPB Types II or III: Newly-diagnosed Types II and III PPB patients will be included in
the Treatment and Biology Registry.

4. Prior corticosteroid therapy is allowed.

5. Types II and III PPB patients with PRIOR Type I PPB diagnosis

6. Individuals with DICER1-related conditions including PPB, Sertoli-Leydig cell tumor,
gynandroblastoma, cystic nephroma, renal sarcoma and others.

7. Individuals with the DICER1 gene mutation regardless of whether they have a known
DICER1-associated condition

8. Informed consent by patient/ or parent/guardian (also, where appropriate: assent and
HIPAA consent)

Exclusion Criteria: