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The Journal of Clinical Endocrinology... Jan 2021Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first described in 2008, strongly suggestive of DICER1 syndrome. (Observational Study)
Observational Study
CONTEXT
Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first described in 2008, strongly suggestive of DICER1 syndrome.
OBJECTIVE
This work aims to describe genetic alterations, clinical courses, outcomes, and complications in all known pituitary blastoma cases.
DESIGN AND SETTING
A multi-institutional case series is presented from tertiary pediatric oncology centers.
PATIENTS
Patients included children with pituitary blastoma.
INTERVENTIONS
Genetic testing, surgery, oncologic therapy, endocrine support are reported.
OUTCOME MEASURES
Outcome measures included survival, long-term morbidities, and germline and tumor DICER1 genotypes.
RESULTS
Seventeen pituitary blastoma cases were studied (10 girls and 7 boys); median age at diagnosis was 11 months (range, 2-24 months). Cushing syndrome was the most frequent presentation (n = 10). Cushingoid stigmata were absent in 7 children (2 with increased adrenocorticotropin [ACTH]; 5 with normal/unmeasured ACTH). Ophthalmoplegia and increased intracranial pressure were also observed. Surgical procedures included gross/near-total resection (n = 7), subtotal resection (n = 9), and biopsy (n = 1). Six children received adjuvant therapy. At a median follow-up of 6.7 years, 9 patients were alive; 8 patients died of the following causes: early medical/surgical complications (n = 3), sepsis (n = 1), catheter-related complication (n = 1), aneurysmal bleeding (n = 1), second brain tumor (n = 1), and progression (n = 1). Surgery was the only intervention for 5 of 9 survivors. Extent of resection, but neither Ki67 labeling index nor adjuvant therapy, was significantly associated with survival. Chronic complications included neuroendocrine (n = 8), visual (n = 4), and neurodevelopmental (n = 3) deficits. Sixteen pituitary blastomas were attributed to DICER1 abnormalities.
CONCLUSIONS
Pituitary blastoma is a locally destructive tumor associated with high mortality. Surgical resection alone provides long-term disease control for some patients. Quality survival is possible with long-term neuroendocrine management.
Topics: Blast Crisis; Child, Preschool; DEAD-box RNA Helicases; Female; Follow-Up Studies; Germ-Line Mutation; Humans; Infant; Male; Pituitary Neoplasms; Postoperative Complications; Prognosis; Retrospective Studies; Ribonuclease III; Survival Rate
PubMed: 33236116
DOI: 10.1210/clinem/dgaa857 -
Molecular Oncology Mar 2019Early detection, including cancer screening and surveillance, is emerging as one of the most important topics in modern oncology. Because symptomatic presentation... (Review)
Review
Early detection, including cancer screening and surveillance, is emerging as one of the most important topics in modern oncology. Because symptomatic presentation remains the predominant route to cancer diagnosis, there is a growing interest in developing techniques to detect the disease at an early, curative stage. Moreover, growing understanding of cancer biology has paved the way for prevention studies with the focus on therapeutic interventions for premalignant conditions. Where there is a recognisable precursor stage, such as a colorectal adenoma or Barrett's metaplasia, the removal of abnormal tissue prevents the development of cancer and enables stratification of the patient to a high-risk group requiring further surveillance. Here, we provide a review of the available technologies for early diagnosis and minimally-invasive treatment.
Topics: Biomarkers, Tumor; Early Detection of Cancer; Humans; Neoplasms
PubMed: 30677217
DOI: 10.1002/1878-0261.12458 -
Journal of Internal Medicine May 2021
Topics: Humans; Neoplasms; Tumor Microenvironment
PubMed: 33769632
DOI: 10.1111/joim.13280 -
American Society of Clinical Oncology... Jan 2019Cancer cells are known to have distinct metabolic characteristics compared with normal cells, given the catabolic and anabolic demands of increased cell growth and... (Review)
Review
Cancer cells are known to have distinct metabolic characteristics compared with normal cells, given the catabolic and anabolic demands of increased cell growth and proliferation. This altered metabolism in cancer cells imbues differential dependencies, and substantial effort has been invested in developing therapeutic strategies to exploit these potential vulnerabilities. Parallel to these efforts has been a growing appreciation for the presence of notable intratumoral metabolic heterogeneity. Although many novel agents are showing some promising results in targeting specific metabolic processes, the challenge moving forward will be to develop combination strategies to address the aforementioned metabolic heterogeneity and its interplay with both epigenetic and immune factors in the tumor microenvironment. In this review, we discuss recent developments in targeting tumor catabolism, lipid biosynthesis, glycolysis, and the citric acid cycle as well as efforts to combine these approaches with immunotherapy.
Topics: Disease Management; Energy Metabolism; Humans; Metabolic Networks and Pathways; Molecular Targeted Therapy; Neoplasms
PubMed: 31099667
DOI: 10.1200/EDBK_238499 -
The EMBO Journal Sep 2021The EMBO Journal highlights the multifaceted aspects of tumour biology in a series of complementary review articles published over the course of 2021.
The EMBO Journal highlights the multifaceted aspects of tumour biology in a series of complementary review articles published over the course of 2021.
Topics: Animals; Humans; Neoplasms; Tumor Microenvironment
PubMed: 34287984
DOI: 10.15252/embj.2021109115 -
Cancer Cell Apr 2023The multi-step process of carcinogenesis implies the existence of pre-malignant yet altered states that involve both the potentially carcinogenic cell as well as its...
The multi-step process of carcinogenesis implies the existence of pre-malignant yet altered states that involve both the potentially carcinogenic cell as well as its surrounding microenvironment. Experts discuss some tumor types for which clear pre-cancerous stages have been identified and mention key biological alterations used for diagnosis and intervention strategies.
Topics: Humans; Neoplasms; Carcinogenesis; Tumor Microenvironment
PubMed: 37037612
DOI: 10.1016/j.ccell.2023.03.012 -
Philosophical Transactions of the Royal... Aug 2019
Topics: Humans; Neoplasms
PubMed: 31431173
DOI: 10.1098/rstb.2019.0103 -
Journal of Molecular Medicine (Berlin,... Apr 2015Rare conditions are sometimes ignored in biomedical research because of difficulties in obtaining specimens and limited interest from fund raisers. However, the study of... (Review)
Review
Rare conditions are sometimes ignored in biomedical research because of difficulties in obtaining specimens and limited interest from fund raisers. However, the study of rare diseases such as unusual cancers has again and again led to breakthroughs in our understanding of more common diseases. It is therefore unsurprising that with the development and accessibility of next-generation sequencing, much has been learnt from studying cancers that are rare and in particular those with uniform biological and clinical behavior. Herein, we describe how shotgun sequencing of cancers such as granulosa cell tumor, endometrial stromal sarcoma, epithelioid hemangioendothelioma, ameloblastoma, small-cell carcinoma of the ovary, clear-cell carcinoma of the ovary, nonepithelial ovarian tumors, chondroblastoma, and giant cell tumor of the bone has led to rapidly translatable discoveries in diagnostics and tumor taxonomies, as well as providing insights into cancer biology.
Topics: Animals; Genomics; High-Throughput Nucleotide Sequencing; Humans; Mutation; Neoplasms
PubMed: 25676695
DOI: 10.1007/s00109-015-1260-8 -
Cancer Feb 2023Pleuropulmonary blastoma (PPB) is the most common lung cancer of infancy and early childhood. Type I PPB is a purely cystic lesion that has a microscopic population of...
BACKGROUND
Pleuropulmonary blastoma (PPB) is the most common lung cancer of infancy and early childhood. Type I PPB is a purely cystic lesion that has a microscopic population of primitive small cells with or without rhabdomyoblastic features and may progress to type II or III PPB, whereas type Ir lacks primitive small cells.
METHODS
Children with suspected PPB were enrolled in the International PPB/DICER1 Registry. Pathology was centrally reviewed, and follow-up was ascertained annually.
RESULTS
Between 2006 and 2022, 205 children had centrally reviewed type I or Ir PPB; 39% of children with type I and 5% of children with type Ir PPB received chemotherapy. Outcomes were favorable, although 11 children (nine with type I and two with type Ir PPB) experienced progression to type II/III (n = 8) or regrowth of type I PPB at the surgical site (n = 3), none of whom received chemotherapy before progression. Age and cyst size in combination were more suitable than either factor alone in predicting whether a particular lesion was type I or Ir PPB.
CONCLUSIONS
For young children with type I PPB, outcomes are favorable, but complete resection is indicated because of the risk for progression. Chemotherapy may be useful in a subset of children at increased risk for recurrence/progression. Efforts to risk stratify children with type I PPB to optimize outcomes while reducing treatment-related side effects are underway.
Topics: Child; Humans; Child, Preschool; Pulmonary Blastoma; Lung Neoplasms; Registries; Ribonuclease III; Drug-Related Side Effects and Adverse Reactions; DEAD-box RNA Helicases
PubMed: 36541021
DOI: 10.1002/cncr.34593 -
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