Pleuropulmonary Blastoma
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Last Posted: Sep 21, 2024
- The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect.
Giada Del Baldo, et al. Scientific reports 2024 0 (1) 21435 - No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
Jette J Bakhuizen, et al. Journal of pediatric surgery 2023 0 - Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes.
Gabriela Telman, et al. Genes 2023 0 (9) - Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations.
Koelsche Christian, et al. Acta neuropathologica 2018 0 (2) 327-337 - Pleuropulmonary blastoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations.
Bisogno Gianni, et al. Pediatric blood & cancer 2021 0 (Suppl 4) e29045 - DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
Rio Frio Thomas, et al. JAMA 2011 0 (1) 68-77 - Complete Tracheal Ring Deformity, Recurrent Pneumothoraces and Pleuropulmonary Blastoma in a Child: Coincidence or Common Genetic Cause?
Thiemann Inga, et al. Klinische Padiatrie 2022 0 (5) 311-313 - CLINGEN Actionability Report for DICER1-Related Disorders-DICER1
ClinGen Actionability Working Group - DICER1 and associated conditions: Identification of at-risk individuals and recommended surveillance strategies.
Schultz Kris Ann P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Jan - DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry.
Schultz Kris Ann P et al. Gynecologic oncology 2017 Oct
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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