Last updated:
5/20/2024
Years published: 2005, 2010, 2013, 2016, 2020, 2024
Kris Ann P. Schultz, MD, Anne Harris, MPH, CCRP and Paige Mallinger, MS, CCRP, Cancer and Blood Disorders Program of Children’s Minnesota, and the International Pleuropulmonary Blastoma/DICER1 Registry.
Advertisement
Summary
Pleuropulmonary blastoma (PPB) is a rare childhood cancer occurring in the chest, specifically in the lungs or in the coverings of the lungs called “pleura”. Four subtypes of PPB exist: type Ir, type I, type II, and type III PPB. Type I, II, and III PPB are usually found in children under the age of approximately 7-8 years; PPB occurs rarely in older children or teenagers, and even more rarely in adults, but type Ir PPB may be found at any age.
Type I PPB takes the form of one or more cysts in the lungs (air-filled pockets) and may be found in very young children (from birth to about 3 years of age). Type III PPB is an entirely solid tumor. Type II PPB includes both cystic and solid parts. Types II and III PPB tend to be found more often after 1.5 years of age. Type Ir (the “r” stands for regressed/regressing) is a type of PPB that is similar to type I PPB in terms of how the cells appear under the microscope, but cancerous cells are not present.
Children with type I PPB have a better outlook (“prognosis”) than children with types II and III PPB. Most children with type I PPB are cured (89%) but type I PPB can sometimes recur (“come back”) as type II or III PPB. Treatment for type I consists of surgery and sometimes chemotherapy. Treatment for types II and III PPB consists of surgery and chemotherapy and possibly radiation therapy. At present, about 50-70% of children with types II and III PPB are cured.
Introduction
PPB is a childhood cancer in the group of cancers called soft tissue cancers, which are scientifically called sarcomas. PPB is, therefore, a soft tissue sarcoma. Physicians classify diseases this way to compare features and to compare treatments. PPB occurs in the lungs and is the most common lung cancer of childhood, but PPB has no connection to lung cancers in adults that are often related to tobacco use or asbestos exposure. Like many cancers, PPB can spread through the blood to other areas of the body. When a cancer spreads to another part of the body it is called a “metastasis” of the cancer. Types II and III PPB can metastasize. The most common location for a PPB metastasis is the brain. PPB may also spread to the remaining part of the lung, bones, liver and rarely to other organs. PPB can also spread by growing directly into tissues next to the lung like the diaphragm.
Two different sets of symptoms are found in children with PPB, based generally on the child’s age and the type of PPB:
Respiratory Distress
Respiratory distress or breathing difficulty (dyspnea) may be mild to severe. Large pockets of air in the chest may prevent normal breathing. The air may be in large pockets in the lung (cysts) that compress the normal lung. Air also sometimes escapes from cysts into the chest cavity (pneumothorax). A chest X-ray or computed tomography (CT) scan will discover these air pockets and further investigations will lead to surgery to remove them.
Pneumonia/General Illness
These symptoms tend to be found in children with types II and III PPB. These children may present with signs of pneumonia or another general illness including cough, fever, difficulty breathing, fatigue, loss of energy and decreased appetite. Chest or abdominal pain may also occur. Occasionally there is weight loss. A chest x-ray will show a problem that may look like pneumonia (lung infection). Because PPB is rare and other conditions of the lung are more common, PPB may not be initially suspected when a child has these symptoms. When further investigations are done, such as a chest CT scan, these tests may raise the possibility of a tumor in the chest/lung.
Sometimes PPB occurs without any other conditions in the individual or family. PPB may also be an indication of an underlying variation in a gene called DICER1 (see Related Disorders).
PPB occurs in boys and girls approximately equally. Children under the age of 7-8 years are most often affected, but rarely teenagers or young adults may be diagnosed with PPB. Other conditions sometimes associated with PPB may be seen in individuals throughout the life span (see Related Disorders).
When a child presents with symptoms of PPB, a chest X-ray may show an air-filled pocket (cyst) or a solid mass. Chest CT may be performed to look at the lungs in more detail. Surgery, either a biopsy or removal of the cyst or mass, is performed to diagnose and often remove the tumor. Microscopic examination of the specimen is needed. Review by the International PPB/DICER1 Registry pathology specialists may be helpful in confirming the diagnosis. This is offered at no cost to families or hospitals.
Treatment
After surgery to remove type I PPB, some physicians recommend chemotherapy to attempt to remove any remaining small collections of malignant cells; some physicians recommend watchful waiting. Whether chemotherapy or observation is chosen depends on very specific factors for each individual child. Radiation therapy is not used for type I PPB. If type I PPB recurs in a child as type II or type III PPB, then the treatments for types II and III disease must be used.
Type II and III PPB are both serious (aggressive) malignancies. Surgery is the first step in treatment but sometimes due to the size and location of the tumor, only a biopsy can be performed. In these situations, chemotherapy is given to shrink the remaining tumor and remove the malignant cells left behind after surgery. Sometimes radiation therapy is also used. All children with type II or III PPB require additional treatment after tumor removal.
The medications usually used for treatment of PPB are the same or similar to drugs used for more common childhood cancers. Even though PPB is rare, pediatric cancer specialists have experience using these drugs. Their use in children with PPB is guided by their use in other children.
The use of radiation therapy is highly individualized in PPB patients. In general, if there is a small area of tumor that could not be removed by surgery and which does not seem to disappear with chemotherapy, then radiation may be considered. Radiation can damage nearby tissues, so the doses and locations of radiation therapy are limited by the radiation oncology team. When PPB spreads to the brain, surgery followed by radiation therapy is often advised.
Another possible therapy for PPB is high-dose chemotherapy followed by autologous stem cell transplantation. This overall approach may be useful in cases where PPB has not been eliminated by more standard therapy.
When standard treatments are not successful at eliminating PPB other therapies are often tried. Research is ongoing to find more effective therapies for PPB.
Children, adults, and families with PPB or other DICER1-related conditions are invited to participate in the International PPB/DICER1 Registry. The goal of the Registry is to optimize surveillance strategies to determine the best way to detect these tumors in their earliest and most curable forms and to find more effective and less toxic ways to treat these DICER1-related cancers.
Research into the inheritance patterns in PPB patients and their families has already led to the understanding that the DICER1 gene variant is the reason why some individuals are more likely to develop PPB or other kinds of tumors. DICER1-specific surveillance guidelines are available for anyone with PPB, another DICER1-related condition, or variant in the DICER1 gene. This research is ongoing. Please contact the International PPB/DICER1 Registry for more information about this study:
The International Pleuropulmonary Blastoma/DICER1 Registry
http://www.ppbregistry.org/
Email contact: [email protected]
Paige Mallinger, MS, CCRP, MPH, CCRP or Kris Ann P. Schultz, MD
Phone: 612-813-7121
Fax: 612-813-7108
Children’s Minnesota
910 East 26th St.
Suite LL08
Minneapolis, MN 55404
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact: www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
SELECT JOURNAL ARTICLES
Dehner LP, Schultz KAP, Hill DA. Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification. Pediatr Dev Pathol. 2023 May-Jun;26(3):241-249. doi: 10.1177/10935266221146823. Epub 2023 Feb 21. Review. PubMed PMID: 37334833.
Nelson AT, Dybvik A, Mallinger P, Weiss McQuaid S, Watson D, Harney LA, Stewart DR, Dehner LP, Messinger YH, Kunin-Batson AS, Schultz KAP. Health-related quality of life in children and adolescents with pleuropulmonary blastoma: A report from the International PPB/DICER1 Registry. Pediatr Blood Cancer. 2023 Apr;70(4):e30077. Doi: 10.1002/pbc.30077. Epub 2022 Nov 24. PubMed PMID: 36424733; PubMed Central PMCID: PMC9974753.
Nelson AT, Harris AK, Watson D, Miniati D, Finch M, Kamihara J, Mitchell SG, Wilson DB, Gettinger K, Rangaswami AA, Campos JM, Lederman S, Feltis BA, Vasta LM, Harney LA, Stewart DR, Dehner LP, Messinger YH, Hill DA, Schultz KAP. Type I and Ir pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry. Cancer. 2023 Feb 15;129(4):600-613. Doi: 10.1002/cncr.34593. Epub 2022 Dec 20. PubMed PMID: 36541021; PubMed Central PMCID: PMC10316522.
Schultz KAP, Harris AK, Nelson AT, Watson D, Lucas JT Jr, Miniati D, Stewart DR, Hagedorn KN, Mize W, Kamihara J, Mitchell SG, Wilson DB, Gettinger K, Rangaswami AA, Harney LA, Rodriguez Galindo C, Bisogno G, Dehner LP, Hill DA, Messinger YH. Outcomes for Children With Type II and Type III Pleuropulmonary Blastoma Following Chemotherapy: A Report From the International PPB/DICER1 Registry. J Clin Oncol. 2023 Feb 1;41(4):778-789. doi: 10.1200/JCO.21.02925. Epub 2022 Sep 22. PubMed PMID: 36137255; PubMed Central PMCID: PMC9901992.
Schultz KAP, Chintagumpala M, Piao J, Chen KS, Shah R, Gartrell RD, Christison-Lagay E, Pashnakar F, Berry JL, O’Neill AF, Vasta LM, Flynn A, Mitchell SG, Seynnaeve BK, Rosenblum J, Potter SL, Kamihara J, Rodriguez-Galindo C, Hawkins DS, Laetsch TW. Rare Tumors: Opportunities and challenges from the Children’s Oncology Group perspective. EJC Paediatr Oncol. 2023 Dec;2. doi: 10.1016/j.ejcped.2023.100024. Epub 2023 Jul 20. PubMed PMID: 37829670; PubMed Central PMCID: PMC10566015.
Schultz KAP, Chintagumpala M, Piao J, Chen KS, Shah R, Gartrell RD, Christison-Lagay E, Pashnakar F, Berry JL, O’Neill AF, Vasta LM, Flynn A, Mitchell SG, Seynnaeve BK, Rosenblum J, Potter SL, Kamihara J, Rodriguez-Galindo C, Hawkins DS, Laetsch TW. Rare Tumors: Opportunities and challenges from the Children’s Oncology Group perspective. EJC Paediatr Oncol. 2023 Dec;2. doi: 10.1016/j.ejcped.2023.100024. Epub 2023 Jul 20. PubMed PMID: 37829670; PubMed Central PMCID: PMC10566015.
Schultz KAP, Chintagumpala M, Piao J, Chen KS, Gartrell R, Christison-Lagay E, Berry JL, Shah R, Laetsch TW. Children’s Oncology Group’s 2023 blueprint for research: Rare tumors. Pediatr Blood Cancer. 2023 Sep;70 Suppl 6(Suppl 6):e30574. doi: 10.1002/pbc.30574. Epub 2023 Jul 17. PubMed PMID: 37458616; PubMed Central PMCID: PMC10529839.
Venger K, Elbracht M, Carlens J, Deutz P, Zeppernick F, Lassay L, Kratz C, Zenker M, Kim J, Stewart DR, Wieland I, Schultz KAP, Schwerk N, Kurth I, Kontny U. Unusual phenotypes in patients with a pathogenic germline variant in DICER1. Fam Cancer. 2023 Oct;22(4):475-480. doi: 10.1007/s10689-021-00271-z. Epub 2021 Jul 31. PubMed PMID: 34331184; PubMed Central PMCID: PMC9743360.
González IA, Stewart DR, Schultz KAP, Field AP, Hill DA, Dehner LP. DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol. 2022 Jan;35(1):4-22. Doi: 10.1038/s41379-021-00905-8. Epub 2021 Oct 1. Review. PubMed PMID: 34599283; PubMed Central PMCID: PMC8695383.
Roy P, Das A, Singh A, Panda J, Bhattacharya A, Gehani A, Parihar M, K S R, Achari R, Alaggio R, Field A, Hill DA, Dehner LP, Schultz KAP. Phenotypic similarities within the morphologic spectrum of DICER1-associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting. Pediatr Blood Cancer. 2022 Mar;69(3):e29466. doi: 10.1002/pbc.29466. Epub 2021 Dec 16. PubMed PMID: 34913555; PubMed Central PMCID: PMC9248686.
Alipour Z, Schultz KAP, Chen L, et al. Programmed Death Ligand 1 Expression and Related Markers in Pleuropulmonary Blastoma. Pediatr Dev Pathol. 2021;24(6):523-530. doi:10.1177/10935266211027417
Alrashidi E, Enizi AA, Ghareeb E, Ali AE, Alharthi W, Ayyaf MA, Schultz K, Muharram W. Pleuropulmonary blastoma mimicking lobar pneumonia with DICER1 gene positive in a 3-year-old child: a case report and review of the literature. Acta Scientific Pediartrics. 2021 June; 4(7):07-13.
Bisogno G, Sarnacki S, Stachowicz-Stencel T, et al. Pleuropulmonary blastoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatr Blood Cancer. 2021;68 Suppl 4(Suppl 4):e29045. doi:10.1002/pbc.29045
Ferguson MJ, Ivanovich J, Stansell P, Vik TA, Helvie AE, Schmitt MR, Schultz KA, Dehner LP, Renbarger JL, Marshall MS. Previously unreported somatic variants in two patients with pleuropulmonary blastoma with metastatic brain recurrence. Pediatr Blood Cancer. 2021 May;68(5):e28825. Doi: 10.1002/pbc.28825. Epub 2020 Nov 30. PubMed PMID: 33258270; PubMed Central PMCID: PMC9677809
González IA, Mallinger P, Watson D, Harris AK, Messinger YH, Schultz KAP, Field A, Hill DA, Dehner LP. Expression of p53 is significantly associated with recurrence-free survival and overall survival in pleuropulmonary blastoma (PPB): a report from the International Pleuropulmonary Blastoma/DICER1 Registry. Mod Pathol. 2021 Jun;34(6):1104-1115. Doi: 10.1038/s41379-021-00735-8. Epub 2021 Feb 26. PubMed PMID: 33637876; PubMed Central PMCID: PMC9236228.
Dehner LP, Schultz KA, Hill DA. Pleuropulmonary blastoma: more than a lung neoplasm of childhood. Mo Med. 2019;116(3):206-210.
Nakano Y, Gatell SP, Schultz KAP, Carrillo TM, Fujisaki H, Okada K, Horiike M, Nakamura T, Watanabe Y, Matsusaka Y, Sakamoto H, Fukushima H, Inoue T, Williams GM, Hill DA, Hara J. Successful treatment of metastatic cerebral recurrence of pleuropulmonary blastoma. Pediatr Blood Cancer. 2019 May;66(5):e27628. Doi: 10.1002/pbc.27628. Epub 2019 Jan 24. PubMed PMID: 30677214.
Stewart DR, Best AF, Williams GM, Harney LA, Carr AG, Harris AK, Kratz CP, Dehner LP, Messinger YH, Rosenberg PS, Hill DA, Schultz KAP. Neoplasm risk among individuals with a pathogenic germline variant in DICER1. J Clin Oncol. 2019 Mar 10;37(8):668-676. doi: 10.1200/JCO.2018.78.4678. Epub 2019 Feb 4. PubMed PMID: 30715996.
Khan NE, Ling A, Raske ME, Harney LA, Carr AG, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Schultz KAP, Stewart DR. Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. Pediatr Nephrol. 2018 Dec;33(12):2281-2288. doi: 10.1007/s00467-018-4040-1. Epub 2018 Sep 3. PubMed PMID: 30178239; PubMed Central PMCID: PMC6203641.
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill A. DICER1 and associated conditions: Identification of at-risk individuals and recommended surveillance strategies. Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17. Review. PubMed PMID: 29343557; PubMed Central PMCID: PMC6260592.
Dehner LP, Messinger YH, Williams GM, Stewart DR, Harney LA, Schultz KA, Hill DA. Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV. Neonatology. 2017;111(1):76. doi: 10.1159/000447992. Epub 2016 Aug 26. PubMed PMID: 27562209
Khan NE, Bauer AJ, Schultz KAP, Doros L, Decastro RM, Ling A, Lodish M, Harney LA, Kase RG, Carr AG, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Stewart DR. Increased risks of multi-nodular goiter and thyroid cancer in a cohort with DICER1 syndrome. J Clin Endocrinol Metab 2017;102(5):1614-22. doi: 10.1210/jc.2016-2954. PubMed PMID: 28323992; PubMed Central PMCID: PMC5443331.
Schultz KAP, Harris AK, Finch M, Dehner LP, Brown JB, Gershenson DM, Young RH, Field A, Yu W, Turner J, Cost NG, Schneider DT, Stewart DR, Frazier AL, Messinger Y, Hill DA. DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry Gynecol Oncol. 2017 Dec;147(3):521-527. doi: 10.1016/j.ygyno.2017.09.034. Epub 2017 Oct 14. PubMed PMID: 29037807; PubMed Central PMCID: PMC5716477.
Schultz KAP, Rednam SP, Kamihara J, Doros L, Achatz MI, Wasserman JD, Diller LR, Brugières L, Druker H, Schneider KA, McGee RB, Foulkes WD. PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629. Review. PubMed PMID: 28620008.
Schultz KP, Williams G, Kachanov D, Varfolomeeva S, Hill A, Dehner L, Messinger Y. DICER1 syndrome and pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. Rus J Ped Hematol Oncol. 2017; 4(4):9-19.
Stewart DR, Givens SS, Harris AK, Williams GM, Messinger YH, Schultz KA, Hill DA. Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. Pediatr Blood Cancer. 2016 Oct;63(10):1869-70. doi: 10.1002/pbc.26075. Epub 2016 May 30. PubMed PMID: 27238822.
Feinberg A, Hall NJ, Williams GM, Schultz KA, Miniati D, Hill DA, Dehner LP, Messinger YH, Langer JC. Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features?. J Pediatr Surg. 2016 Jan;51(1):33-7. Doi: 10.1016/j.jpedsurg.2015.10.019. Epub 2015 Oct 23. PubMed PMID: 26561249; PubMed Central PMCID: PMC5031236.
Brenneman M, Field A, Yang J et al. Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model. F1000Research 2015;4:214.
Dehner LP, Messinger YH, Schultz KAP, Williams GM, Wikenheiser-Brokamp K, Hill DA. Pleuropulmonary blastoma: the evolution of an entity as an entry into a familial tumor predisposition syndrome. Pediatr Dev Pathol 2015;18:504-11.
Messinger YH, Stewart DR, Priest JR, Williams GM, Harris A, Schultz KAP, Yang J, Doros L, Rosenberg PS, Hill DA, Dehner LP. Pleuropulmonary blastoma: a report on 350 central pathology confirmed PPB cases by the International PPB Registry. Cancer 2015;121(2):276–85.
Pappo AS, Furman WL, Schultz KA, Ferrari A, Helman L, Krailo MD. Rare tumors in children: progress through collaboration. J Clin Oncol 2015: 33(27):3047-54.
Pashankar F, Bisogno G, Ribeiro R, Messinger Y, Schultz KA, Rodriguez-Galindo C. The role of registries and tumor banking in rare pediatric tumors. Curr Pediatr Rep 2015;3(2):128-36.
Sabapathy DG, Guillerman RP, Orth RC, Zhang W, Messinger Y, Foulkes W, Priest JR, Annapragada AV. Radiographic screening of infants and young children with genetic predisposition for rare malignancies: the case of DICER1 mutations and pleuropulmonary blastoma. Am J Roentgenol 2015;204(4):W475-82.
Wagh PK, Gardner MA, Ma X, Callahan M, Shannon JM, Wert SE, Messinger YH, Dehner LP, Hill DA, Wikenheiser-Brokamp KA. Cell-and developmental stage-specific DICER1 ablation in the lung epithelium models of cystic pleuropulmonary blastoma. J Pathol 2015; 236(1):41-52.
Yin Y, Castro AM, Hoekstra M, Yan TJ, Kanakamedala AC, Dehner LP, Hill DA, Ornitz D. Fibroblast growth factor 9 regulation by MicroRNAs controls lung development and links DICER1 loss to the pathogenesis of pleuropulmonary blastoma. PLoS Genet. 2015 May 15;11(5):e1005242.
Pugh TJ, Yu W, Yang J, Field A, Ambrogio L, Carter SL, Cibulskis K, Giannikopoulos P, Kiezun A, Kim J, McKenna A, Nickerson E, Getz G, Hoffher S, Messinger YH, Dehner LP, Roberts CWM, Rodriguez-Galindo C, Williams GM, Rossi CT, Meyerson M, Hill DA. Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two-hit DICER1 loss resulting in retention of 5p-derived miRNA hairpins. Oncogene 2014;33:5295-5302.
Schultz KAP, Harris A, Williams GM, Baldinger S, Doros L, Valusek P, Frazier AL, Dehner LP, Messinger Y, Hill DA. Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. Pediatr Blood Cancer 2014;61(9):1695-7.
Schultz KA, Yang J, Doros L, Williams GM, Harris A, Stewart DR, Messinger Y, Field A, Dehner LP Hill DA. DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions Pathol Case Rev 2014;19(2):90–100.
Schultz KA, Harris A, Williams GM, Baldinger S, Doros L, Valusek P, Frazier AL, Dehner LP, Messinger Y, Hill DA. Reply: Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. Pediatr Blood Cancer. 2014 Dec;61(12):2331-2. doi: 10.1002/pbc.25233. Epub 2014 Sep 22. PubMed PMID: 25251372; PubMed Central PMCID: PMC4205196.
Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S, Barfoot R, Burke A, Chisholm J, Hewitt M, Jenkinson H, King D, Morland B, Pizer B, Prescott K, Saggar A, Side L, Traunecker H, Vaidya S, Ward P, Futreal PA, Vujanic G, Nicholson AG, Sebire N, Priest JR, Pritchard-Jones K, Houlston R, Turnbull C, Stiller C, Stratton MR, Douglas J, Rahman N. DICER1 syndrome – clarifying the diagnosis, clinical features and management implications of a pleiotropic tumor predisposition syndrome. J Med Genet 2011;48:273-78.
Schultz KAP, Pacheco MC, Yang J, Williams GM, Messinger Y, Hill DA, Dehner LP, Priest JR. Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: A report from the International Pleuropulmonary blastoma Registry. Gynecol Oncol 2011;122(2):246-50.
Schultz KA, Pacheco MC, Yang J, Williams GM, Messinger Y, Hill DA, Dehner LP, Priest JR. Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. Gynecol Oncol. 2011 Aug;122(2):246-50. doi: 10.1016/j.ygyno.2011.03.024. Epub 2011 Apr 17. PubMed PMID: 21501861; PubMed Central PMCID: PMC3138876.
Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma. Science 2009;325:965.
Priest JR, Williams GM, Hill AD, Dehner LP, Jaff? A. Pulmonary Cysts in Early Childhood and the Risk of Malignancy. Pediatr Pulmonol 2009;44(1):14-30.
Hill DA, Jarzembowski JA, Lennerz JK, Priest JR, Williams G, Schoettler P, Dehner LP. Type I pleuropulmonary blastoma: pathology and biology study of 51 cases from the International Pleuropulmonary Blastoma Registry. Am J Surg Pathol 2008;32(2):282-295.
Pai S, Eng HL, Lee SY, Hsaio CC, Huang WT, Huang SC, Hill DA, Dehner LP, Priest JR. Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst [Letter to the Editor]. Pediatr Blood Cancer 2007;48(3):370-371.
Priest JR, Magnuson J, Williams GM, Abromowitch M, Byrd R, Sprinz P, Finkelstein M, Moertel CL, Hill DA. Cerebral metastasis and other central nervous system complications of pleuropulmonary blastoma. Pediatr Blood Cancer 2007;49(3):266-273.
Priest JR, Hill DA, Williams GM, Moertel CM, Messinger Y, Finkelstein MJ, Dehner LP. Type I pleuropulmonary blastoma: A report from the International Pleuropulmonary Blastoma Registry. J Clin Oncol 2006;24:4492-4498.
Dehner LP. Beware of “degenerating” congenital pulmonary cysts [Letter to the Editor]. Pediatr Surg Int 2005;21:123-124.
Hill DA. USCAP Specialty Conference, case 1: Type I Pleuropulmonary blastoma. Pediatr Dev Pathol 2005;8:77-84.
Priest JR, McDermott MB, Bhatia S, Watterson J, Manivel JC, Dehner LP. Pleuropulmonary blastoma. A clinicopathologic study of 50 cases. Cancer 1997;80:147-61.
Priest JR, Watterson J, Strong L, Huff V, Woods WG, Byrd RL, Friend SH, Newsham I, Amylon MD, Pappo A, Mahoney DH, Langston C, Heyn R, Kohut G, Freyer DR, Bostrom B, Richardson MS, Barredo J, Dehner LP. Pleuropulmonary blastoma: a marker for familial disease. J Pediatr 1996;128(2):220-4.
McDermott MB, Dehner LP, Priest JR. Reply to Lopez-Andreu JA et al. Pleuropulmonary blastoma and congenital cystic malformations. J Pediatr 1996;129(5):772-5.
Dehner LP, Watterson J, Priest JR. Pleuropulmonary blastoma. A unique intrathoracic-pulmonary neoplasm of childhood. Perspectives in Pediatric Pathology 1995;18:214-226.
Dehner LP. Pleuropulmonary blastoma is THE pulmonary blastoma of childhood. Semin Diagn Pathol 1994;11(2):144-51.
Manivel JC, Priest JR, Watterson J, et al. Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. Cancer 1988;62:1516-1526.
INTERNET
Schultz KAP, Stewart DR, Kamihara J, et al. DICER1 Tumor Predisposition. 2014 Apr 24 [Updated 2020 Apr 30]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK196157/ Accessed May 1, 2024.
NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.
NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.
Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.
Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/