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Louis P. Dehner - One of the best experts on this subject based on the ideXlab platform.

  • thoracic sertoli leydig cell tumor an alternative type of Pleuropulmonary Blastoma associated with dicer1 variation
    Pediatric Blood & Cancer, 2021
    Co-Authors: William Terry, Louis P. Dehner, Ashley D Hill, Yoav H Messinger, Amanda Field, Erica M Carlisle, Paige Mallinger, Alexander Nelson, David J Gordon, Kris Ann P Schultz
    Abstract:

    A 2-year-old boy presented with a large cystic and solid chest mass arising from the lung, radiographically consistent with Pleuropulmonary Blastoma (PPB). He underwent right lower lobectomy with resection of a well-circumscribed, mixed solid and cystic mass. The solid areas were composed of cords and nests of tumor cells in the myxoid stroma and retiform foci whose pathologic and immunophenotypic findings were consistent with a sex cord-stromal tumor with features of a Sertoli-Leydig cell tumor. Tumor testing showed a pathogenic variant in the DICER1 RNase IIIb hotspot domain. Family history was suggestive of DICER1 germline pathogenic DICER1 variation in absence of a detectable germline variant. He received 12 cycles of chemotherapy with ifosfamide, vincristine, dactinomycin and doxorubicin (IVADo) and surgery with complete response. One year after completion of chemotherapy, imaging studies showed concern for recurrence confirmed by thorascopic biopsy of a pleural-based mass. He is currently receiving cisplatin-based chemotherapy with reduction in tumor size. Review of the literature showed no similar cases; however, review of our pathology files revealed a single similar case of anterior mediastinal Sertoli cell tumor in a 3-year-old girl.

  • programmed death ligand 1 expression and related markers in Pleuropulmonary Blastoma
    Pediatric and Developmental Pathology, 2021
    Co-Authors: Zahra Alipour, Kris Ann P Schultz, Ashley D Hill, Anne K Harris, Ling Chen, Ivan Gonzalez, John D Pfeifer, Louis P. Dehner
    Abstract:

    INTRODUCTION Pleuropulmonary Blastoma (PPB), a rare childhood neoplasm of the lung, is linked to pathogenic DICER1 variants. We investigated checkpoint inhibitor markers including Programmed Death Ligand 1 (PD-L1), PD1, CD8 and tumor mutational burden (TMB) in PPB. MATERIAL AND METHODS Cases were collected from departmental archives and the International PPB/DICER1 Registry. Immunohistochemistry (IHC) for PD-L1, PD-1, CD8 and DNA mismatch repair (MMR) genes were performed. In addition, normal-tumor paired whole exome sequencing (WES) was performed in two cases. RESULTS Twenty-five PPB cases were studied, consisting of Type I (n = 8, including 2 Ir), Type II (n = 8) and Type III (n = 9). PD-L1 combined positive score (CPS) of 1, 4 and 80 was seen in three (3/25, 12.0%) cases of Type II PPB with negative staining in the remaining cases. PD-1 and CD8 stains demonstrated positive correlation (P < .05). The density of PD1 and CD8 in the interface area was higher than within tumor (P < .05). The MMR proteins were retained. TMB was 0.65 mutations/Mb in type II PPB with high expression of PD-L1, and 0.94 mutations/Mb in one negative PD-L1 case with metastatic tumor. CONCLUSION A small subpopulation of PPB patient might benefit from checkpoint immunotherapy due to positive PD-L1 staining.

  • Pleuropulmonary Blastoma more than a lung neoplasm of childhood
    Missouri medicine, 2019
    Co-Authors: Louis P. Dehner, Kris Ann P Schultz, D A Hill
    Abstract:

    Pleuropulmonary Blastoma (PPB), the most common primary malignant neoplasm of the lung in childhood, occurs in the same early age group (0-6 years) as the other more common solid tumors such as neuroBlastoma and Wilms tumor. The tumor begins as a cystic lung lesion with the potential over a period of 3-5 years to progress to a high grade multipatterned primitive sarcoma in the absence of a malignant epithelial component. Several years after its initial description as a unique clinicopathologic entity, this and other tumors appeared to have a familial predilection which was later confirmed with the discovery of a heterozygous germline mutation in DICER1 whose protein is a member of ribonuclease III family of enzymes. It is estimated that 75%-80% of children with a PPB have the germline mutation. The other notable finding from our studies is the identification of a family of extrapulmonary neoplasms, including cystic nephroma and Sertoli-Leydig cell tumor of the ovary as two examples, also with DICER1 mutations.

  • Pleuropulmonary Blastoma evolution of an entity as an entry into a familial tumor predisposition syndrome
    Pediatric and Developmental Pathology, 2015
    Co-Authors: Louis P. Dehner, Gretchen M. Williams, Yoav Messinger, Kris Ann P Schultz, Kathryn A Wikenheiserbrokamp, Ashley D Hill
    Abstract:

    Pleuropulmonary Blastoma (PPB) is the most common primary malignant neoplasm of the lung in children. Like other solid dysontogenic neoplasms, this tumor typically presents before 7 years of age. The earliest manifestation is the presence of a lung cyst(s), which is usually recognized in the first year of life and is difficult to differentiate on the basis of imaging studies from non-neoplastic cysts of early childhood. From a multilocular cyst, PPB has the potential to progress to a high-grade multipatterned primitive sarcoma. More than 65% of all affected children have a heterozygous germline mutation in DICER1. The DICER1 PPB familial tumor predisposition syndrome is initially recognized in most cases on the basis of PPB alone but also by several other unique and characteristic extrapulmonary tumors, including pediatric cystic nephroma, nasal chondromesenchymal hamartoma, nodular lesions of the thyroid, embryonal rhabdomyosarcoma of the cervix, and ciliary body medulloepithelioma.

  • association of recurrent or progressive p of form types ii and iii Pleuropulmonary Blastoma ppb with poor outcome a report from the international ppb registry
    Journal of Clinical Oncology, 2015
    Co-Authors: Kris Ann P Schultz, Louis P. Dehner, Gretchen M. Williams, Ashley D Hill, Douglas R Stewart, Leslie Doros, Philip S Rosenberg, Yoav H Messinger
    Abstract:

    10014 Background: Pleuropulmonary Blastoma (PPB) is a rare malignancy of the lung presenting in young children. PPB is the sentinel disease of the PPB-DICER1familial syndrome. The International PPB...

Ashley D Hill - One of the best experts on this subject based on the ideXlab platform.

  • thoracic sertoli leydig cell tumor an alternative type of Pleuropulmonary Blastoma associated with dicer1 variation
    Pediatric Blood & Cancer, 2021
    Co-Authors: William Terry, Louis P. Dehner, Ashley D Hill, Yoav H Messinger, Amanda Field, Erica M Carlisle, Paige Mallinger, Alexander Nelson, David J Gordon, Kris Ann P Schultz
    Abstract:

    A 2-year-old boy presented with a large cystic and solid chest mass arising from the lung, radiographically consistent with Pleuropulmonary Blastoma (PPB). He underwent right lower lobectomy with resection of a well-circumscribed, mixed solid and cystic mass. The solid areas were composed of cords and nests of tumor cells in the myxoid stroma and retiform foci whose pathologic and immunophenotypic findings were consistent with a sex cord-stromal tumor with features of a Sertoli-Leydig cell tumor. Tumor testing showed a pathogenic variant in the DICER1 RNase IIIb hotspot domain. Family history was suggestive of DICER1 germline pathogenic DICER1 variation in absence of a detectable germline variant. He received 12 cycles of chemotherapy with ifosfamide, vincristine, dactinomycin and doxorubicin (IVADo) and surgery with complete response. One year after completion of chemotherapy, imaging studies showed concern for recurrence confirmed by thorascopic biopsy of a pleural-based mass. He is currently receiving cisplatin-based chemotherapy with reduction in tumor size. Review of the literature showed no similar cases; however, review of our pathology files revealed a single similar case of anterior mediastinal Sertoli cell tumor in a 3-year-old girl.

  • programmed death ligand 1 expression and related markers in Pleuropulmonary Blastoma
    Pediatric and Developmental Pathology, 2021
    Co-Authors: Zahra Alipour, Kris Ann P Schultz, Ashley D Hill, Anne K Harris, Ling Chen, Ivan Gonzalez, John D Pfeifer, Louis P. Dehner
    Abstract:

    INTRODUCTION Pleuropulmonary Blastoma (PPB), a rare childhood neoplasm of the lung, is linked to pathogenic DICER1 variants. We investigated checkpoint inhibitor markers including Programmed Death Ligand 1 (PD-L1), PD1, CD8 and tumor mutational burden (TMB) in PPB. MATERIAL AND METHODS Cases were collected from departmental archives and the International PPB/DICER1 Registry. Immunohistochemistry (IHC) for PD-L1, PD-1, CD8 and DNA mismatch repair (MMR) genes were performed. In addition, normal-tumor paired whole exome sequencing (WES) was performed in two cases. RESULTS Twenty-five PPB cases were studied, consisting of Type I (n = 8, including 2 Ir), Type II (n = 8) and Type III (n = 9). PD-L1 combined positive score (CPS) of 1, 4 and 80 was seen in three (3/25, 12.0%) cases of Type II PPB with negative staining in the remaining cases. PD-1 and CD8 stains demonstrated positive correlation (P < .05). The density of PD1 and CD8 in the interface area was higher than within tumor (P < .05). The MMR proteins were retained. TMB was 0.65 mutations/Mb in type II PPB with high expression of PD-L1, and 0.94 mutations/Mb in one negative PD-L1 case with metastatic tumor. CONCLUSION A small subpopulation of PPB patient might benefit from checkpoint immunotherapy due to positive PD-L1 staining.

  • Pleuropulmonary Blastoma evolution of an entity as an entry into a familial tumor predisposition syndrome
    Pediatric and Developmental Pathology, 2015
    Co-Authors: Louis P. Dehner, Gretchen M. Williams, Yoav Messinger, Kris Ann P Schultz, Kathryn A Wikenheiserbrokamp, Ashley D Hill
    Abstract:

    Pleuropulmonary Blastoma (PPB) is the most common primary malignant neoplasm of the lung in children. Like other solid dysontogenic neoplasms, this tumor typically presents before 7 years of age. The earliest manifestation is the presence of a lung cyst(s), which is usually recognized in the first year of life and is difficult to differentiate on the basis of imaging studies from non-neoplastic cysts of early childhood. From a multilocular cyst, PPB has the potential to progress to a high-grade multipatterned primitive sarcoma. More than 65% of all affected children have a heterozygous germline mutation in DICER1. The DICER1 PPB familial tumor predisposition syndrome is initially recognized in most cases on the basis of PPB alone but also by several other unique and characteristic extrapulmonary tumors, including pediatric cystic nephroma, nasal chondromesenchymal hamartoma, nodular lesions of the thyroid, embryonal rhabdomyosarcoma of the cervix, and ciliary body medulloepithelioma.

  • association of recurrent or progressive p of form types ii and iii Pleuropulmonary Blastoma ppb with poor outcome a report from the international ppb registry
    Journal of Clinical Oncology, 2015
    Co-Authors: Kris Ann P Schultz, Louis P. Dehner, Gretchen M. Williams, Ashley D Hill, Douglas R Stewart, Leslie Doros, Philip S Rosenberg, Yoav H Messinger
    Abstract:

    10014 Background: Pleuropulmonary Blastoma (PPB) is a rare malignancy of the lung presenting in young children. PPB is the sentinel disease of the PPB-DICER1familial syndrome. The International PPB...

  • Pleuropulmonary Blastoma a report on 350 central pathology confirmed Pleuropulmonary Blastoma cases by the international Pleuropulmonary Blastoma registry
    Cancer, 2015
    Co-Authors: Yoav H Messinger, Gretchen M. Williams, Kris Ann P Schultz, John R Priest, Douglas R Stewart, Anne K Harris, Jiandong Yang, Leslie Doros, Philip S Rosenberg, Ashley D Hill
    Abstract:

    Background Pleuropulmonary Blastoma (PPB) has 3 subtypes on a tumor progression pathway ranging from type I (cystic) to type II (cystic/solid) and type III (completely solid). A germline mutation in DICER1 is the genetic cause in the majority of PPB cases.

John R Priest - One of the best experts on this subject based on the ideXlab platform.

Gretchen M. Williams - One of the best experts on this subject based on the ideXlab platform.

Yoav H Messinger - One of the best experts on this subject based on the ideXlab platform.

  • thoracic sertoli leydig cell tumor an alternative type of Pleuropulmonary Blastoma associated with dicer1 variation
    Pediatric Blood & Cancer, 2021
    Co-Authors: William Terry, Louis P. Dehner, Ashley D Hill, Yoav H Messinger, Amanda Field, Erica M Carlisle, Paige Mallinger, Alexander Nelson, David J Gordon, Kris Ann P Schultz
    Abstract:

    A 2-year-old boy presented with a large cystic and solid chest mass arising from the lung, radiographically consistent with Pleuropulmonary Blastoma (PPB). He underwent right lower lobectomy with resection of a well-circumscribed, mixed solid and cystic mass. The solid areas were composed of cords and nests of tumor cells in the myxoid stroma and retiform foci whose pathologic and immunophenotypic findings were consistent with a sex cord-stromal tumor with features of a Sertoli-Leydig cell tumor. Tumor testing showed a pathogenic variant in the DICER1 RNase IIIb hotspot domain. Family history was suggestive of DICER1 germline pathogenic DICER1 variation in absence of a detectable germline variant. He received 12 cycles of chemotherapy with ifosfamide, vincristine, dactinomycin and doxorubicin (IVADo) and surgery with complete response. One year after completion of chemotherapy, imaging studies showed concern for recurrence confirmed by thorascopic biopsy of a pleural-based mass. He is currently receiving cisplatin-based chemotherapy with reduction in tumor size. Review of the literature showed no similar cases; however, review of our pathology files revealed a single similar case of anterior mediastinal Sertoli cell tumor in a 3-year-old girl.

  • association of recurrent or progressive p of form types ii and iii Pleuropulmonary Blastoma ppb with poor outcome a report from the international ppb registry
    Journal of Clinical Oncology, 2015
    Co-Authors: Kris Ann P Schultz, Louis P. Dehner, Gretchen M. Williams, Ashley D Hill, Douglas R Stewart, Leslie Doros, Philip S Rosenberg, Yoav H Messinger
    Abstract:

    10014 Background: Pleuropulmonary Blastoma (PPB) is a rare malignancy of the lung presenting in young children. PPB is the sentinel disease of the PPB-DICER1familial syndrome. The International PPB...

  • radiographic screening of infants and young children with genetic predisposition for rare malignancies dicer1 mutations and Pleuropulmonary Blastoma
    American Journal of Roentgenology, 2015
    Co-Authors: Divya Sabapathy, John R Priest, Yoav H Messinger, Paul R Guillerman, Robert C Orth, Wei Zhang, William D Foulkes, Ananth Annapragada
    Abstract:

    OBJECTIVE. The purpose of this study was to compare the risks of radiation in screening strategies using chest radiographs and CT to detect a rare cancer in a genetically predisposed population against the risks of undetected disease. MATERIALS AND METHODS. A decision analytic model of diagnostic imaging screening strategies was built to predict outcomes and cumulative radiation doses for children with DICER1 mutations screened for Pleuropulmonary Blastoma. Screening strategies compared were chest radiographs followed by chest CT for a positive radiographic result and CT alone. Screening frequencies ranged from once in 3 years to once every 3 months. BEIR VII (model VII proposed by the Committee on the Biological Effects of Ionizing Radiation) risk tables were used to predict excess cancer mortality for each strategy, and the corresponding loss of life expectancy was calculated using Surveillance Epidemiologic and End Results (SEER) statistics. Loss of life expectancy owing to undetected progressive pleur...

  • Pleuropulmonary Blastoma a report on 350 central pathology confirmed Pleuropulmonary Blastoma cases by the international Pleuropulmonary Blastoma registry
    Cancer, 2015
    Co-Authors: Yoav H Messinger, Gretchen M. Williams, Kris Ann P Schultz, John R Priest, Douglas R Stewart, Anne K Harris, Jiandong Yang, Leslie Doros, Philip S Rosenberg, Ashley D Hill
    Abstract:

    Background Pleuropulmonary Blastoma (PPB) has 3 subtypes on a tumor progression pathway ranging from type I (cystic) to type II (cystic/solid) and type III (completely solid). A germline mutation in DICER1 is the genetic cause in the majority of PPB cases.

  • ivado treatment of type ii and type iii Pleuropulmonary Blastoma ppb a report from the international ppb registry
    Journal of Clinical Oncology, 2014
    Co-Authors: Leslie Doros, Louis P. Dehner, Gretchen M. Williams, Kris Ann P Schultz, Ashley D Hill, John R Priest, Anne K Harris, Nicolas Andre, Carlos Rodriguezgalindo, Yoav H Messinger
    Abstract:

    10060 Background: Pleuropulmonary Blastoma (PPB) is a rare malignancy of the lung presenting in young children. The International PPB Registry (IPBBR) has pathologically confirmed more than 400 cas...