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International Journal of Gynecological... Jul 2023We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, immunohistochemical, and molecular...
We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, immunohistochemical, and molecular genetic analysis together helped to diagnose this lesion as a cervical pleuropulmonary blastoma-like tumor, associated with TP53 and DICER1 mutations. The tumor displayed usual histologic features including mixtures of embryonal rhabdomyosarcoma, sarcomatous cartilage, compact blastema, primitive spindle cells and anaplasia, akin to type III pleuropulmonary blastoma, and trabecular and retiform patterns. In addition to expanding the phenotypic spectrum of DICER1 -associated conditions, we draw attention to genotype-phenotype correlations in DICER1 -associated tumors, particularly as they relate to the discovery of a heritable tumor predisposition syndrome.
Topics: Female; Humans; Mutation; Pulmonary Blastoma; Uterine Cervical Neoplasms; Rhabdomyosarcoma, Embryonal; Ribonuclease III; Tumor Suppressor Protein p53; DEAD-box RNA Helicases
PubMed: 36302256
DOI: 10.1097/PGP.0000000000000927 -
The Pan African Medical Journal 2022Pleuropulmonary blastoma is a rare intrathoracic tumor in children. It is associated with poor prognosis and diagnosis is based on histological examination. We conducted...
Pleuropulmonary blastoma is a rare intrathoracic tumor in children. It is associated with poor prognosis and diagnosis is based on histological examination. We conducted a didactic study involving a 3-year-old child with severe acute respiratory distress associated with hemothorax; radiological and thoracoscopic examination suggested malignant pleuropulmonary process. Anatomopathological examination with radio-clinical comparison allowed for the diagnosis of solid-cystic pleuropulmonary blastoma type II. Unfortunately, given the severity of the clinical features, the child died within a few weeks due to multiple organ failure. Pathologist experience is very important to recognize the disease and to start adequate treatment as soon as possible. This allows for a tumor regression rate up to 90% after neoadjuvant treatment and a 5-year survival rate of at least 53% for aggressive forms: solid and solido-cystic tumors.
Topics: Humans; Child, Preschool; Lung Neoplasms; Pulmonary Blastoma; Neoadjuvant Therapy; Radiography
PubMed: 36284883
DOI: 10.11604/pamj.2022.43.8.33823 -
Journal of Clinical Oncology : Official... Feb 2023Pleuropulmonary blastoma (PPB) is the most common primary lung neoplasm of infancy and early childhood. Type II and type III PPB have historically been associated with a...
PURPOSE
Pleuropulmonary blastoma (PPB) is the most common primary lung neoplasm of infancy and early childhood. Type II and type III PPB have historically been associated with a poor prognosis.
METHODS
Patients with known or suspected PPB were enrolled in the International PPB/ Registry. Medical records were abstracted with follow-up ascertained annually. All PPB diagnoses were confirmed by central pathology review. Beginning in 2007, the IVADo regimen (ifosfamide, vincristine, actinomycin-D, and doxorubicin) was recommended as a potential treatment regimen for children with type II and type III PPB. This regimen was compared with a historical control cohort.
RESULTS
From 1987 to 2021, 314 children with centrally confirmed type II and type III PPB who received upfront chemotherapy were enrolled; 132 children (75 with type II and 57 with type III) received IVADo chemotherapy. Adjusted analyses suggest improved overall survival for children treated with IVADo in comparison with historical controls with an estimated hazard ratio of 0.65 (95% CI, 0.39 to 1.08). Compared with localized disease, distant metastasis at diagnosis was associated with worse PPB event-free survival and overall survival with hazard ratio of 4.23 (95% CI, 2.42 to 7.38) and 4.69 (95% CI, 2.50 to 8.80), respectively.
CONCLUSION
The use of IVADo in children with type II and type III PPB resulted in similar-to-improved outcomes compared with historical controls. Inferior outcomes with metastatic disease suggest the need for novel therapies. This large cohort of uniformly treated children with advanced PPB serves as a benchmark for future multicenter therapeutic studies for this rare pediatric tumor.
Topics: Child; Humans; DEAD-box RNA Helicases; Doxorubicin; Lung Neoplasms; Pulmonary Blastoma; Registries; Ribonuclease III
PubMed: 36137255
DOI: 10.1200/JCO.21.02925 -
Pediatric Blood & Cancer Jun 2023Pediatric pulmonary malignancy can be primary or metastatic, with the latter being by far the more common. With a few exceptions, there are no well-established...
Pediatric pulmonary malignancy can be primary or metastatic, with the latter being by far the more common. With a few exceptions, there are no well-established evidence-based guidelines for imaging pediatric pulmonary malignancies, although computed tomography (CT) is used in almost all cases. The aim of this article is to provide general imaging guidelines for pediatric pulmonary malignancies, including minimum standards for cross-sectional imaging techniques and specific imaging recommendations for select entities.
Topics: Child; Humans; Pulmonary Blastoma; Surface Plasmon Resonance; Lung Neoplasms; Lung; Tomography, X-Ray Computed
PubMed: 36121877
DOI: 10.1002/pbc.29964 -
Fetal and Pediatric Pathology Jun 2023tumor predisposition syndrome is characterized by an increased risk for development of pleuropulmonary blastoma, pituitary blastoma, multinodular thyroid goiter,... (Review)
Review
tumor predisposition syndrome is characterized by an increased risk for development of pleuropulmonary blastoma, pituitary blastoma, multinodular thyroid goiter, thyroid carcinoma, sex cord stromal tumor, cystic nephroma, embryonal rhabdomyosarcoma, and tumors of the CNS, amongst others. Of this list, only pituitary blastoma is recognized as pathognomonic for the syndrome. We describe a 15-year-old female with bilateral, asynchronous Sertoli-Leydig cell tumors (SLCT). Both tumors harbored an identical germline frameshift mutation as well as unique somatic hot-spot point mutations. A review of bilateral SLCTs demonstrates that all patients with available mutation status carried a germline mutation (100%, 9 of 9). In cases with known somatic status on bilateral tumors, all harbored distinct somatic mutations (100%, 5 of 5). Our findings support the notion that bilateral ovarian SLCTs are indeed separate events and do not represent recurrent or metastatic disease.
Topics: Male; Female; Humans; Adolescent; Sertoli-Leydig Cell Tumor; Ovarian Neoplasms; Mutation; Pulmonary Blastoma; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 36121434
DOI: 10.1080/15513815.2022.2120787 -
Hong Kong Medical Journal = Xianggang... Aug 2022
Topics: Child; Hong Kong; Humans; Lung Neoplasms; Pulmonary Blastoma
PubMed: 35989435
DOI: 10.12809/hkmj219503 -
Journal of Medical Ultrasonics (2001) Oct 2022
Topics: Humans; Pulmonary Blastoma; Mitral Valve; Lung Neoplasms
PubMed: 35918507
DOI: 10.1007/s10396-022-01248-w -
Pleuropulmonary blastoma masquerading as pneumothorax in a patient with a ventricular septal defect.Asian Cardiovascular & Thoracic Annals Oct 2022Pleuropulmonary blastoma is a rare pediatric primary lung tumor. We report a case of a child with Down syndrome and a large ventricular septal defect presenting with...
Pleuropulmonary blastoma is a rare pediatric primary lung tumor. We report a case of a child with Down syndrome and a large ventricular septal defect presenting with pleuropulmonary blastoma initially misdiagnosed as spontaneous pneumothorax. Following tube thoracostomy drainage of the pneumothorax, the child underwent surgical closure of the ventricular septal defect. However, the postoperative period was complicated by recurrent left pleural collection requiring prolonged intercostal tube drainage and two thoracotomies to evacuate the necrotic pleural material. The biopsy of the necrotic material was suggestive of type III pleuropulmonary blastoma. In view of the high propensity of metastasis associated with this variant of a tumor, the patient was started on chemotherapy. This case report highlights the possibility of pleuropulmonary blastoma presenting as pneumothorax and emphasizes the need to consider the etiology, before intervening in a child presenting with spontaneous pneumothorax.
Topics: Child; Heart Septal Defects, Ventricular; Humans; Lung Neoplasms; Pneumothorax; Pulmonary Blastoma; Treatment Outcome
PubMed: 35898165
DOI: 10.1177/02184923221113297 -
Radiology Case Reports Sep 2022Pleuropulmonary blastoma (PPB) is among the rarest malignant tumors diagnosed in children. PPBs can be histopathologically classified into 3 types: cystic tumor (type...
Pleuropulmonary blastoma (PPB) is among the rarest malignant tumors diagnosed in children. PPBs can be histopathologically classified into 3 types: cystic tumor (type I), mixed cystic and solid tumor (type II), and pure solid tumor (type III). We describe a case of type III PPB that was detected in a prenatal fetus, confirmed using histopathological methods. To the best of our knowledge, this is the first case describing a type III PPB detected in a fetus. Prenatal ultrasonography is an excellent tool for detecting pulmonary lesions during the diagnostic phase, and the possibility of PPB should be considered when solid tumors are detected. Early detection can allow for the performance of full resection, leading to a better prognosis for this cancerous tumor.
PubMed: 35818452
DOI: 10.1016/j.radcr.2022.06.032 -
Annals of Diagnostic Pathology Oct 2022DICER1-related tumors occur hereditary or sporadically, with high-grade malignancies sharing clinicopathological and (epi)genetic features. We compared 4 pleuropulmonary... (Comparative Study)
Comparative Study
Pleuropulmonary blastoma (PPB) and other DICER1-associated high-grade malignancies are morphologically, genetically and epigenetically related - A comparative study of 4 PPBs and 6 sarcomas.
DICER1-related tumors occur hereditary or sporadically, with high-grade malignancies sharing clinicopathological and (epi)genetic features. We compared 4 pleuropulmonary blastomas (PPBs) and 6 sarcomas by mutation analysis, whole transcriptome sequencing and methylation profiling. 9/10 patients were female. PPB patients were 0-4 years. 3/4 were alive; 2 without disease. One patient died of metastatic disease (median follow-up, 16 months). Sarcoma patients were 16-56 years. Locations included: uterine cervix/corpus (3/1), soft tissue back/shoulder (1) and paravertebral (1). 5/6 patients were alive; 2 developed metastases: intracranial (1) and lung and kidney (1) (median follow-up, 17 months). The deceased patient previously had a PPB and a Sertoli-Leydig cell tumor. Histologically, tumors showed atypical primitive-looking cells with incomplete rhabdomyoblastic differentiation and cartilage (n = 5). Immunohistochemistry demonstrated desmin- (n = 9/10), myogenin- (n = 6/10) and keratin positivity (n = 1/1). Eight cases harbored biallelic DICER1 mutations with confirmed germline mutations in 4 cases. Two cases showed a monoallelic mutation. By RNA expression- and methylation profiling, distinct clustering of our cases was seen demonstrating a close relationship on (epi)genetic level and similarities to embryonal rhabdomyosarcoma. In conclusion, this study shows overlapping morphological, immunohistochemical and (epi)genetic features of PPBs and DICER1-associated high-grade sarcomas, arguing that these neoplasms form a spectrum with a broad clinicopathological range.
Topics: Female; Humans; Male; DEAD-box RNA Helicases; Desmin; Keratins; Mutation; Myogenin; Pulmonary Blastoma; Rhabdomyosarcoma, Embryonal; Ribonuclease III; RNA; Soft Tissue Neoplasms
PubMed: 35779311
DOI: 10.1016/j.anndiagpath.2022.152002