Cancers, Vol. 16, Pages 347: Expanding Our Knowledge of DICER1 Gene Alterations and Their Role in Thyroid Diseases
This study undertakes a comprehensive investigation into DICER1 mutations, focusing on their role in thyroid diseases. Specific attention was given to thyroid follicular nodular disease and differentiated thyroid carcinomas in infancy as highly indicative of germline DICER1 mutation or DICER1 syndrome. Additionally, poorly differentiated thyroid carcinoma and thyroblastoma were identified as potential indicators of somatic DICER1 mutations. Recognizing these manifestations should prompt clinicians to expedite genetic evaluation for this neoplastic syndrome and classify these patients as high risk for additional multi-organ...
Source: Cancers - January 13, 2024 Category: Cancer & Oncology Authors: Maria Cristina Riascos Anh Huynh William C. Faquin Vania Nos é Tags: Review Source Type: research
No pathogenic DICER1 gene variants in a cohort study of 28 children with congenital pulmonary airway malformation
Distinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have been misdiagnosed and we may have missed DICER1-associated PPBs, a diagnosis with important clinical implications for patients and their families. To gain insight in potential misdiagnoses, we systematically assessed somatic DICER1 gene mutation status in an unselected, retrospective cohort of patients with a CPAM diagnosis. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - October 20, 2023 Category: Surgery Authors: Jette J. Bakhuizen, Floor AM. Postema, Rick R. van Rijn, Joost van Schuppen, Floor AM. Duijkers, Carel JM. van Noesel, Raoul C. Hennekam, Marjolijn CJ. Jongmans, C. Dilara Savci-Heijink, Stephanie E. Smetsers, Suzanne WJ. Terheggen-Lagro, Saskia MJ. Hopma Source Type: research
Co-axial Endotracheal Tube Technique for Achieving One Lung Ventilation In A Toddler With An Occupying Malignant Tumor Of Right Lung
Achieving one-lung ventilation in pediatrics is often challenging for anesthesiologists. The age of the child, underlying tracheobronchial anatomy, equipment availability, the procedure's urgency, and the provider's skills compound these challenges. This case describes a toddler who was posted for an emergency surgical resection of a pleuropulmonary blastoma of the right lung. The patient presented with a compromised airway and superior vena cava obstruction, requiring hemodynamic support with vasoactive drugs. (Source: Journal of Cardiothoracic and Vascular Anesthesia)
Source: Journal of Cardiothoracic and Vascular Anesthesia - October 8, 2023 Category: Anesthesiology Authors: Madan Mohan Maddali, Mazin Madhaffar Sulaiman Al Wahaibi, Malay Hemantlal Patel, Sunny Zacharias Source Type: research
Genes, Vol. 14, Pages 1670: Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes
This article aims to provide a comprehensive analysis of three unique cases involving pediatric patients with CPS who were diagnosed with multiple simultaneous or metachronous cancers. The first case involves a child with embryonal rhabdomyosarcoma, nephroblastoma, glioma, and subsequent medulloblastoma. Genetic analysis identified two pathogenic variants in the BRCA2 gene. The second case involves a child with alveolar rhabdomyosarcoma, juvenile xanthogranuloma, gliomas, and subsequent JMML/MDS/MPS. A pathogenic variant in the NF1 gene was identified. The third case involves a child with pleuropulmonary blastoma and pedia...
Source: Genes - August 24, 2023 Category: Genetics & Stem Cells Authors: Gabriela Telman Ewa Strauss Patrycja Sosnowska-Sienkiewicz Magdalena Halasz Danuta Januszkiewicz-Lewandowska Tags: Article Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
A rare case of Pleuropulmonary blastoma type III with Immunohistochemical Study
Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):632-635. doi: 10.4103/ijpm.ijpm_781_21.ABSTRACTHere we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a prolife...
Source: Indian Journal of Pathology and Microbiology - August 2, 2023 Category: Pathology Authors: Siddhi Gaurish Sinai Khandeparkar Maithili Mandar Kulkarni Bageshri P Gogate Chinmayee Sanjeev Dhavan Source Type: research
