international ppb/dicer1 registry

Conditions: Pleuropulmonary Blastoma; Sertoli-Leydig Cell Tumor; DICER1 Syndrome; Cystic Nephroma; Wilms Tumor; Pineoblastoma; Renal Sarcoma; Nodular Hyperplasia of Thyroid; Nasal Chondromesenchymal Hamartoma; Ciliary Body Medulloepithelioma; Neuroblastoma; Pituitary Cancer; Embryonal Rhabdomyosarcoma; Ovarian Sarcoma; Gynandroblastoma; Thyroid Carcinoma; Embryonal Rhabdomyosarcoma of Vagina (Diagnosis); Embryonal Rhabdomyosarcoma of Uterus (Diagnosis); Embryonal Rhabdomyosarcoma of Cervix

Summary: pleuropulmonary blastoma (ppb) is a rare malignant neoplasm of the lung presenting in early childhood. type i ppb is a purely cystic lesion, type ii is a partially cystic, partially solid tumor, type iii is a completely solid tumor. treatment of children with ppb is at the discretion of the treating institution. this study builds off of the 2009 study and will also seek to enroll individuals with dicer1-associated conditions, some of whom may present only with the dicer1 gene mutation, which will help the registry understand how these tumors and conditions develop, their clinical course and the most effective treatments.

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/dicer1 registry offers information based on previous data from registry participants and the medical literature and collaborative efforts with international rare tumor groups. retrospective and real-time central pathology review is encouraged. 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.

Eligibility criteria:
inclusion criteria: 1. known or suspected ppb or related thoracic tumor 2. known or suspected sex-cord stromal tumor including sertoli-leydig cell tumor and gynandroblastoma (males or females) 3. other known or suspected dicer1-related condition including ovarian sarcoma, cystic nephroma, renal sarcoma, pineoblastoma, pituitary blastoma, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma and others 4. individuals with known or suspected dicer1 pathogenic variation regardless of whether they have an established dicer1-associated condition 5. informed consent by patient/ or parent/guardian (also, where appropriate: assent and hipaa consent) exclusion criteria: absence of appropriate consent for registry participation

Keywords: pleuropulmonary blastoma ppb dicer1 slct sertoli-leydig cell tumor cystic nephroma cn dicer1 mutation dicer1 syndrome wilms tumor pineoblastoma renal sarcoma ask nodular hyperplasia of thyroid thyroid nodules thyroid carcinoma nasal chondromesenchymal hamartoma ncmh ciliary body medulloepithelioma cbme neuroblastoma pituitary cancer embryonal rhabdomyosarcoma erms ovarian sarcoma gynandroblastoma peritoneal ppb pppb multinodular goiter ppb type i ppb type ii ppb type iii ppb type ir