The Family of the Child with PPB

The PPB/Neoplasia Cancer Family Syndrome is the unexpectedly frequent occurrence of childhood cancers (neoplasia*) and similar diseases (dysplasia*) in children with PPB and in their families. In 25% of PPB cases, this situation is present. Striking illustrative examples are families with 2 children with PPB (3 such families known: 1 pair of siblings; 2 sets of cousins) or a child with PPB and other family members in several generations with childhood cystic nephroma. See Cases of Cystic Nephroma Associated with PPB and Dysplastic and Neoplastic Conditions in PPB Patients and their Families and see Registry Publications Priest 1996; Messinger 2004; Boman 2006

The diseases associated with PPB fall into three categories:

A. Other Childhood Cancers (“Neoplasia”): examples of childhood cancers occurring with PPB or in PPB families

    • medulloblastoma

    • bladder rhabdomyosarcoma

    • Wilms’ tumor

    • various leukemias

    • various gonadal tumors (especially hormone-producing stromal sex-chord tumors)

    • others

B. Dysplastic Conditions*:

  • multiple lung cysts: either bilateral or unilateral

  • cystic renal abnormalities, especially cystic nephroma (and a unique subset PPB + cystic nephroma patients, who often have bilateral lung or renal disease, and also have small bowel polyps (with intussusception))

  • nodular thyroid hyperplasias

  • others

C. Second Malignant Neoplasms (in the PPB patient), possibly treatment-related and possibly more frequent than in children with sporadic childhood cancers:

  • glioblastoma multiforme (after PPB brain metastasis)

  • thyroid cancers

  • acute myelomonocytic leukemia (after chemotherapy)

The family members affected by these conditions are:

The PPB Patient: A, B, or C may occur in the PPB child. Other cancers (A) may occur before any treatment has been given for the PPB, thus cannot be treatment-related. Others (C) occur after treatment.

Family Members: A and B occur in close, young family members such as siblings and cousins; and in childhood in mother, father, aunts, uncles, and grandparents.

* for family members reading this page: “neoplasia” essentially means cancer; “dysplasia” means abnormal formations of normal tissue. In some cases, dysplasia means normal tissue (under the microscope) occurring in abnormal collections. In some cases, dysplasia means slight abnormalities under the microscope. A lung cyst or a kidney cyst is a dysplastic abnormality. Dysplasia is not cancerous or malignant but may be a pre-malignant condition.