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DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.Modern Pathology : An Official Journal... Jan 2022DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common... (Review)
Review
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4-5 years of life from the prognostically favorable cystic type I to the unfavorable solid type III. Following the initial report of PPB, its association with other cystic neoplasms was demonstrated in family studies. The detection of the germline mutation in DICER1 provided the opportunity to identify and continue to recognize a number seemingly unrelated extrapulmonary neoplasms: Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Each of these neoplasms is characterized by a second somatic mutation in DICER1. In this review, we have summarized the salient clinicopathologic aspects of these tumors whose histopathologic features have several overlapping morphologic attributes particularly the primitive mesenchyme often with rhabdomyoblastic and chondroid differentiation and an uncommitted spindle cell pattern. Several of these tumors have an initial cystic stage from which there is progression to a high grade, complex patterned neoplasm. These pathologic findings in the appropriate clinical setting should serve to alert the pathologist to the possibility of a DICER1-associated neoplasm and initiate appropriate testing on the neoplasm and to alert the clinician about the concern for a DICER1 mutation.
Topics: Causality; Germ-Line Mutation; Humans; Lung Neoplasms; Pleural Neoplasms; Pulmonary Blastoma; Ribonuclease III; Syndrome
PubMed: 34599283
DOI: 10.1038/s41379-021-00905-8 -
Advances in Respiratory Medicine 2021Pulmonary blastoma is a rare malignancy, accounting for less than 0.5% of primary lung tumors. It belongs to the group of pulmonary sarcomatoid carcinomas, and it is... (Review)
Review
INTRODUCTION
Pulmonary blastoma is a rare malignancy, accounting for less than 0.5% of primary lung tumors. It belongs to the group of pulmonary sarcomatoid carcinomas, and it is typically characterized by a biphasic pattern of an epithelial and a mesenchymal component. Only a few hundred cases have been reported worldwide. The aim of this study is to review and critically assess the literature regarding pulmonary blastoma.
MATERIAL AND METHODS
A narrative literature review of PubMed database from the inception of the database up to January 2021, limited to the English language, was conducted, using combinations of the following keywords: "pulmonary blastoma", "biphasic pulmonary blastoma", "sarcomatoid carcinoma".
RESULTS
Pulmonary blastoma is composed of an epithelial and a mesenchymal malignant component. Regarding pathogenesis, the origin of the biphasic cell population remains elusive. Characteristic immunohistochemical stains are supportive of diagnosis.Clinically, the symptomatology is non-specific, while 40% of the cases are asymptomatic. It is diagnosed at a younger agecompared to other types of lung cancer, and it is often non-metastatic at diagnosis allowing for surgical treatment. Data on management and survival are scarce and mainly come from isolated cases. Advances on targeted therapy may provide novel treatment options. Given the rarity of the cases, multicenter collaboration is needed in order to establish therapeutic guidelines.
Topics: Humans; Lung Neoplasms; Neoplasm Staging; Pulmonary Blastoma
PubMed: 34725809
DOI: 10.5603/ARM.a2021.0085 -
Seminars in Ultrasound, CT, and MR Feb 2022Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary... (Review)
Review
Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary malignancies in children. Pleuropulmonary blastomas are classified as cystic (type I), mixed cystic and solid (type II), and solid (type III). Pleuropulmonary blastoma occurs in the same age group (0-6 years) as other more common solid tumors such as neuroblastoma and Wilms tumor. Differential diagnosis includes metastasis from Wilms tumor and macrocystic congenital pulmonary airway malformation (CPAM). A key pathologic and genetic discriminator is the DICER1 germline mutation found in patients with pleuropulmonary blastoma. Imaging, histopathologic, and clinical data are important to use in conjunction in order to determine the diagnosis and risk stratification of pleuropulmonary blastomas. Survival varies from poor to good, depending on type. However, the spectrum of pleuropulmonary blastoma is insufficiently understood due to the variable presentation of this rare disease. We present a current review of the literature regarding pleuropulmonary blastomas in this article.
Topics: Child; Child, Preschool; Cystic Adenomatoid Malformation of Lung, Congenital; DEAD-box RNA Helicases; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Lung Neoplasms; Multimodal Imaging; Pulmonary Blastoma; Ribonuclease III
PubMed: 35164911
DOI: 10.1053/j.sult.2021.05.007 -
BMC Pulmonary Medicine Jan 2022Pulmonary blastoma (PB) comprises a rare heterogeneous group of lung tumours typically containing immature epithelial and mesenchymal structures that imitate the... (Review)
Review
BACKGROUND
Pulmonary blastoma (PB) comprises a rare heterogeneous group of lung tumours typically containing immature epithelial and mesenchymal structures that imitate the embryonic lung tissue and extremely rarely occurs during pregnancy. Although cough and haemoptysis are the most common PB symptoms, they usually indicate other serious pregnancy-related complications.
CASE PRESENTATION
The article presents the unusual case of a 22-year-old pregnant woman diagnosed with PB during pregnancy.
CONCLUSIONS
PB is characterized by poor prognosis and patients' outcome relies on a rapid diagnosis. Surgery remains the most common and effective treatment. Due to the extreme rarity, the literature contains only single mentions of PB in pregnancy, thus its impact on the course of pregnancy and the developing fetus remains unknown.
Topics: Cesarean Section; Chemotherapy, Adjuvant; Female; Humans; Infant, Newborn; Lung Neoplasms; Male; Pregnancy; Pulmonary Blastoma; Treatment Outcome; Young Adult
PubMed: 34983474
DOI: 10.1186/s12890-021-01804-z -
World Neurosurgery Jul 2020Pituitary blastoma is a malignant neoplasm of the pituitary gland that was recognized by the World Health Organization in 2017. It is commonly diagnosed in children... (Review)
Review
BACKGROUND
Pituitary blastoma is a malignant neoplasm of the pituitary gland that was recognized by the World Health Organization in 2017. It is commonly diagnosed in children before 24 months of age. Here, we report the first case of a young adult patient who was diagnosed with pituitary blastoma with increased levels of growth hormone instead of adrenocorticotropic hormone and provide a review of the literature.
CASE DESCRIPTION
A 19-year-old woman presented to our hospital with visual disturbance. She had a medical history of Wilms' tumor and multinodular goiter. The brain imaging showed a 3.2 × 2.5 × 1.8-cm solid sellar and suprasellar cystic mass that upwardly displaced the optic chiasm. She had an elevated level of growth hormone but a normal level of adrenocorticotropic hormone, cortisol, and prolactin. The mass was subtotally removed through the left pterional craniotomy. The pathologic examination suggested a pituitary blastoma. Thereafter, the patient was treated with chemotherapy and radiotherapy. At 4-year follow-up postsurgery, her overall well-being is good.
CONCLUSIONS
Although in this case the patient was a young adult, pituitary blastoma should be taken into consideration when children have an enhanced sellar and suprasellar mass with peripherally located cysts.
Topics: Female; Goiter, Nodular; Growth Hormone; Humans; Kidney Neoplasms; Neoplasms, Germ Cell and Embryonal; Neoplasms, Second Primary; Thyroid Neoplasms; Wilms Tumor; Young Adult
PubMed: 32339726
DOI: 10.1016/j.wneu.2020.04.096 -
Journal of Medical Ultrasonics (2001) Oct 2022
Topics: Humans; Pulmonary Blastoma; Mitral Valve; Lung Neoplasms
PubMed: 35918507
DOI: 10.1007/s10396-022-01248-w -
Pediatrics Apr 2021Pediatric lung lesions are a group of mostly benign pulmonary anomalies with a broad spectrum of clinical disease and histopathology. Our objective was to evaluate the...
BACKGROUND
Pediatric lung lesions are a group of mostly benign pulmonary anomalies with a broad spectrum of clinical disease and histopathology. Our objective was to evaluate the characteristics of children undergoing resection of a primary lung lesion and to identify preoperative risk factors for malignancy.
METHODS
A retrospective cohort study was conducted by using an operative database of 521 primary lung lesions managed at 11 children's hospitals in the United States. Multivariable logistic regression was used to examine the relationship between preoperative characteristics and risk of malignancy, including pleuropulmonary blastoma (PPB).
RESULTS
None of the 344 prenatally diagnosed lesions had malignant pathology ( < .0001). Among 177 children without a history of prenatal detection, 15 (8.7%) were classified as having a malignant tumor (type 1 PPB, = 11; other PPB, = 3; adenocarcinoma, = 1) at a median age of 20.7 months (interquartile range, 7.9-58.1). Malignancy was associated with the DICER1 mutation in 8 (57%) PPB cases. No malignant lesion had a systemic feeding vessel ( = .0427). The sensitivity of preoperative chest computed tomography (CT) for detecting malignant pathology was 33.3% (95% confidence interval [CI]: 15.2-58.3). Multivariable logistic regression revealed that increased suspicion of malignancy by CT and bilateral disease were significant predictors of malignant pathology (odds ratios of 42.15 [95% CI, 7.43-340.3; < .0001] and 42.03 [95% CI, 3.51-995.6; = .0041], respectively).
CONCLUSIONS
In pediatric lung masses initially diagnosed after birth, the risk of PPB approached 10%. These results strongly caution against routine nonoperative management in this patient population. DICER1 testing may be helpful given the poor sensitivity of CT for identifying malignant pathology.
Topics: Child, Preschool; Cohort Studies; DEAD-box RNA Helicases; Female; Humans; Infant; Infant, Newborn; Length of Stay; Lung Neoplasms; Mutation; Neoplasm Metastasis; Pregnancy; Prenatal Diagnosis; Pulmonary Blastoma; Respiratory Distress Syndrome, Newborn; Retrospective Studies; Ribonuclease III; Tomography, X-Ray Computed
PubMed: 33762310
DOI: 10.1542/peds.2020-028357 -
International Journal of Surgical... Dec 2017Pulmonary blastoma is a rare malignant lung tumor with aggressive behavior and dismal prognosis. It is extremely rare in children aged <18 years, and little is known... (Review)
Review
Pulmonary blastoma is a rare malignant lung tumor with aggressive behavior and dismal prognosis. It is extremely rare in children aged <18 years, and little is known about its genetic alteration and pathogenesis. Although surgical resection and adjuvant chemotherapy or radiotherapy have been applied in several cases, no standard treatment guidelines with sufficient evidence have been established. In this article, we report a case of a large pulmonary blastoma in a 7-year-old girl whose initial presentation was progressive dyspnea and productive cough. We subsequently present a review on cases involving young patients as well as genetic analysis data available in the literature.
Topics: Child; Female; Humans; Lung Neoplasms; Pulmonary Blastoma
PubMed: 28675947
DOI: 10.1177/1066896917718622 -
The Journal of International Medical... Oct 2020Pulmonary blastoma (PB) is a very rare malignant lung tumor consisting of classic biphasic PB, well-differentiated fetal adenocarcinoma, and pleuropulmonary blastoma. We... (Review)
Review
Pulmonary blastoma (PB) is a very rare malignant lung tumor consisting of classic biphasic PB, well-differentiated fetal adenocarcinoma, and pleuropulmonary blastoma. We herein present an unusual case involving a patient with classic biphasic PB who underwent right upper lobe resection and subsequent treatment. No standard treatment guidelines are available for PB because of its rarity. Our patient received nedaplatin plus paclitaxel as adjuvant chemotherapy. After disease recurrence, the patient received two cycles of etoposide-cisplatin and six cycles of pemetrexed, bevacizumab, and carboplatin. Because of severe adverse effects of the chemotherapy, the patient was finally administered anlotinib, a new oral multikinase inhibitor. Both the tumor size and the serum tumor marker concentration decreased. In conclusion, surgical excision is the treatment of choice for PB. Chemotherapy in the present case resulted in PB activity that was consistent with the literature. Targeted therapies including antiangiogenic agents should be considered as a new treatment option for this rare disease.
Topics: Biomarkers, Tumor; Humans; Lung; Lung Neoplasms; Neoplasm Recurrence, Local; Pulmonary Blastoma
PubMed: 33107372
DOI: 10.1177/0300060520962394 -
Journal of Clinical Pathology Jul 1968A case of pulmonary blastoma is described in a man dying at the age of 50 from hepatic and cerebral metastases. Eleven previously reported cases are reviewed and the...
A case of pulmonary blastoma is described in a man dying at the age of 50 from hepatic and cerebral metastases. Eleven previously reported cases are reviewed and the histogenesis is discussed. It is concluded that these rare tumours are a distinct form of pulmonary carcinosarcoma in which the epithelial element is an adenocarcinoma. It is this that gives it its characteristic and probably coincidental histological resemblance to foetal lung and the evidence for a blastomatous origin is regarded as insufficient.
Topics: Adenocarcinoma; Brain Neoplasms; Carcinosarcoma; Humans; Liver Neoplasms; Lung Neoplasms; Male; Middle Aged; Neoplasm Metastasis
PubMed: 5697348
DOI: 10.1136/jcp.21.4.480