ACTH-secreting pituitary carcinoma with TP53, NF1, ATRX and PTEN mutations Case report and review of the literature

Sumislawski, Piotr; Rotermund, Roman; Klose, Silke; Lautenbach, Anne; Wefers, Annika K.; Soltwedel, Celina; Mohammadi, Behnam; Jacobsen, Frank; Mawrin, Christian; Flitsch, Jörg; Saeger, Wolfgang

doi:10.1007/s12020-021-02954-0

Cited by 8 publications

(13 citation statements)

References 43 publications

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“…Other syndromes that have been found to predispose PitNET include Multiple Endocrine Neoplasia (MEN) ( Asa et al, 2022 ) which has been linked to tumorigenesis of the anterior pituitary, as well as McCune-Albright syndrome, Carney complex, and less frequently, succinate dehydrogenase and MYC-associated factor X (MAX) related syndromes ( Barry and Korbonits, 2020 ). Literature is limited in the genetic understanding of PitNET, however germline mutations such as aryl hydrocarbon receptor-interacting proteins (AIP), CDH23, and DICER have been found to predispose pituitary adenoma ( Zhang et al, 2017 ; Lim and Korbonits, 2018 ; Nosé et al, 2022 ) and mutations in ATRX, TP53, NF1, and PTEN could contribute to carcinoma ( Casar-Borota et al, 2020 ; Sumisławski et al, 2022 ). There is no optimal treatment for PitNET, however surgery and radiation has been the most widely adopted treatment.…”

Section: Discussionmentioning

confidence: 99%

Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases

Zhang,

Li,

Liu

et al. 2023

Front. Neurosci.

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Metastatic PitNETs are a rare life-threatening condition with poor prognosis and documentation. Due to the scarce literature and lack of precise treatment, we hope to better characterise PitNET using the next-generation whole exon sequencing (WES) and RNA sequencing. This case study outlines a 54 years-old man and a 52 years-old woman who were both diagnosed with PitNET and analysis of peripheral blood and tumours were performed by WES and RNA sequencing. Analysis showed that DICER1 mutations in precancerous lesions and LAG3 overexpression were significant in aiding the prognosis and diagnosis of PitNETs. The first case with overexpressed LAG3 and DICER1 mutation died 26 months later, and the second case with LAG3 overexpression achieved partial remission. This study revealed that heightened expression of LAG3 offered promising targets for ICI and mutations in DICER1 could provide markers for effective diagnosis and prognosis.

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Section: Discussionmentioning

confidence: 99%

Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases

Zhang,

Li,

Liu

et al. 2023

Front. Neurosci.

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“…Recently, mutations in the tumor suppressor gene PTEN, which induces AKT/PI3K pathway upregulation, was found in a liver metastasis of an ACTH-secreting carcinoma, 41 and had been previously described in a single case of ACTH carcinoma. 42 Chromosomal alterations and copy number variations (CNV) are quite frequently found in Pit-NETs, especially in corticotroph tumors.…”

Section: Molecular Prognostic Factorsmentioning

confidence: 91%

“…Recently, mutations in the tumor suppressor gene PTEN , which induces AKT/PI3K pathway upregulation, was found in a liver metastasis of an ACTH‐secreting carcinoma, 41 and had been previously described in a single case of ACTH carcinoma 42 …”

Section: Molecular Prognostic Factorsmentioning

confidence: 96%

Aggressive corticotroph tumors and carcinomas

Lasolle

Vasiljevic

Jouanneau

et al. 2022

J Neuroendocrinology

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Pituitary tumors are generally benign, although in rare cases aggressive pituitary tumors (APTs) and carcinomas present important diagnostic and therapeutic challenges and are associated with a high mortality rate. Almost half of these APTs and carcinomas are corticotroph tumors, suggesting a specific prognosis. Clinical, pathological and molecular prognostic markers are limited and do not allow early management of these tumors. Temozolomide remains the first-line treatment once a diagnosis of aggressive pituitary tumor or carcinoma has been made. Novel alternative treatments exist, including immune checkpoint inhibitors, which can be used in the case of temozolomide treatment failure. The aim of this review is to present the clinical, pathological and molecular characteristics of aggressive corticotroph tumors and carcinomas, and to describe the results obtained with currently available treatments.

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“…Furthermore, two cases were reported of ACTH-secreting carcinomas with TP53 and ATXR mutations, as well as PTEN. 109,111,112…”

Section: Alpha Thalassemia/mental Retardation Syndrome X-linked (Atxr)mentioning

confidence: 99%

“…Two corticotroph tumours from this study also carried mutations in the PTEN and NF2 genes. Furthermore, two cases were reported of ACTH‐secreting carcinomas with TP53 and ATXR mutations, as well as PTEN 109,111,112 …”

Section: Sporadicmentioning

confidence: 99%

Genetics of Cushing's disease

Simon

Theodoropoulou

2022

J Neuroendocrinology

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Corticotroph tumours are primarily sporadic monoclonal neoplasms and only rarely found in genetic syndromes. Recurrent mutations in the ubiquitin specific protease 8 (USP8) gene are found in around half of cases. Mutations in other genes such as USP48 and NR3C1 are less frequent, found in less than ~20% of cases. TP53 and ATXR mutations are reported in up to one out of four cases, when focusing in USP8 wild type or aggressive corticotroph tumours and carcinomas. At present, USP8 mutations are the primary driver alterations in sporadic corticotroph tumours, TP53 and ATXR mutations may indicate transition to more aggressive tumour phenotype. Next generation sequencing efforts have identified additional genomic alterations, whose role and importance in corticotroph tumorigenesis remains to be elucidated.

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ACTH-secreting pituitary carcinoma with TP53, NF1, ATRX and PTEN mutations Case report and review of the literature

Cited by 8 publications

References 43 publications

Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases

Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases

Aggressive corticotroph tumors and carcinomas

Genetics of Cushing's disease

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