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5. 31P Bone metastases and skeletal related events in pheochromocytoma and paraganglioma patients: International, retrospective study

Author

Laganà, M., primary, Cosentini, D., additional, Grisanti, S., additional, Remde, H., additional, Almeida, M., additional, Pusceddu, S., additional, Deutschbein, T., additional, Fagundes, G., additional, Pereira, A., additional, Grana, C.M., additional, Fazio, N., additional, Corssmit, E., additional, Bongiovanni, A., additional, Canu, L., additional, Kim, E., additional, Habra, M., additional, Jimenez, C., additional, and Berruti, A., additional

Published
2023
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6. Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study

Author

Zamanipoor Najafabadi, Amir H, primary, van der Meulen, Merel, additional, Priego Zurita, Ana Luisa, additional, Faisal Ahmed, S, additional, van Furth, Wouter R, additional, Charmandari, Evangelia, additional, Hiort, Olaf, additional, Pereira, Alberto M, additional, Dattani, Mehul, additional, Vitali, Diana, additional, de Graaf, Johan P, additional, Biermasz, Nienke R, additional, _, _, additional, Steenvoorden, D, additional, Bowring, I, additional, van der Klauw, MM, additional, Vergeer, RA, additional, Losa, M, additional, Mortini, P, additional, Drake, W, additional, Grieve, J, additional, Didi, M, additional, Mallucci, C, additional, Shaikh, MG, additional, Hassan, S, additional, Jorgensen, JOL, additional, Albarazi, M, additional, Zaharieva, S, additional, Hadzhiyanev, A., additional, Tóth, M, additional, Sípos, L, additional, Unuane, D, additional, D'Haens, J, additional, Feldt-Rasmussen, U, additional, Poulsgaard, L, additional, Brue, T, additional, Dufour, H, additional, Bertherat, J, additional, Gaillard, S, additional, Karavitaki, N, additional, Ahmed, S, additional, Unger, N, additional, Kreitschmann-Andermahr, I, additional, Gaztambide, S, additional, Pomposo, I, additional, Gan, H-W, additional, Dorward, N, additional, Fliers, E, additional, Hoogmoed, J, additional, Scaroni, C, additional, Denaro, L, additional, Nordenström, A, additional, Olsson, M, additional, Zilaitiene, B, additional, Tamašauskas, A, additional, Persani, L, additional, Lasio, G, additional, Maiter, D, additional, Raftopoulos, C, additional, Volke, V, additional, Rätsep, T, additional, Matarazzo, P, additional, Peretta, P, additional, Deutschbein, T, additional, Perez, J, additional, Zucchini, S, additional, Mazzatenta, D, additional, Grottoli, S, additional, Zenga, F, additional, Devuyst, F, additional, De Witte, O, additional, Gatto, F, additional, Rossi, D, additional, Schilbach, K, additional, Rachinger, W, additional, Beckers, A, additional, Martin, D, additional, Al-Mrayat, M, additional, Mathad, N, additional, Neggers, SJCMM, additional, Dallenga, AHG, additional, Lebl, J, additional, Tichy, M, additional, Reincke, MM, additional, van de Ven, AC, additional, van Lindert, E, additional, Kotnik, P, additional, Bošnjak, R, additional, Biagetti, B, additional, Cordero, E, additional, Colao, A, additional, and Cappabianca, P, additional

Published
2023
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7. Traitement par la métyrapone dans le syndrome de Cushing endogène : résultats d’efficacité et de tolérance de l’étude de phase III/IV PROMPT

Author

Driessens, N., primary, Nieman, L., additional, Boscaro, M., additional, Scaroni, C., additional, Deutschbein, T., additional, Mezôsi, E., additional, Hubalewska-Dydejczyk, A., additional, Jarzab, B., additional, Maiter, D., additional, Reincke, M., additional, Atmaca, A., additional, Badiu, C., additional, Beckers, A., additional, Bolanowski, M., additional, Cavagnini, F., additional, Unger, N., additional, Giordano, R., additional, Hanzu, F.A., additional, Terzolo, M., additional, Bostnavaron, M., additional, Töke, J., additional, and Tóth, M., additional

Published
2022
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8. Traitement par la métyrapone dans le syndrome de Cushing endogène : résultats d’efficacité et de tolérance de l’étude de phase III/IV PROMPT

Author

Driessens, N., Nieman, L., Boscaro, M., Scaroni, C., Deutschbein, T., Mezôsi, E., Hubalewska-Dydejczyk, A., Jarzab, B., Maiter, Dominique, Reincke, M., Atmaca, A., Badiu, C., Beckers, A., Bolanowski, M., Cavagnini, F., Unger, N., Giordano, R., Hanzu, F.A., Terzolo, M., Bostnavaron, M., Töke, J., Tóth, M., 38e Congrès SFE Octobre 2022, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, and UCL - (SLuc) Service d'endocrinologie et de nutrition

Subjects
Diabetes and Metabolism, Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine
Abstract

OBJECTIF : La métyrapone est un inhibiteur de la stéroïdogenèse approuvé en Europe pour le traitement du syndrome de Cushing endogène, sur la base d’études rétrospectives. Nous présentons les résultats de la première étude prospective sponsorisée par HRA Pharma RD. [...]

Published
2022

11. Essai randomisé en double aveugle du Sunitinib dans les phéochromocytomes et paragangliomes malins (PPGM) : résultats de l’étude internationale FIRSTMAPPP

Author

Baudin, E., primary, Goichot, B., additional, Berruti, A., additional, Hadoux, J., additional, Moalla, S., additional, Laboureau, S., additional, Noelting, S., additional, De La Fouchardière, C., additional, Kienitz, T., additional, Deutschbein, T., additional, Zovato, S., additional, Amar, L., additional, Tabarin, A., additional, Timmers, H., additional, Niccoli, P., additional, and Attard, M., additional

Published
2021
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12. Prognostic factors in stage III–IV adrenocortical carcinomas (ACC): an European Network for the Study of Adrenal Tumor (ENSAT) study

Author

Libé, R., Borget, I., Ronchi, C. L., Zaggia, B., Kroiss, M., Kerkhofs, T., Bertherat, J., Volante, M., Quinkler, M., Chabre, O., Bala, M., Tabarin, A., Beuschlein, F., Vezzosi, D., Deutschbein, T., Borson-Chazot, F., Hermsen, I., Stell, A., Fottner, C., Leboulleux, S., Hahner, S., Mannelli, M., Berruti, A., Haak, H., Terzolo, M., Fassnacht, M., and Baudin, E.

Published
2015
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13. 567O First International Randomized Study in Malignant Progressive Pheochromocytoma and Paragangliomas (FIRSTMAPPP): An academic double-blind trial investigating sunitinib

Author

Baudin, E., primary, Goichot, B., additional, Berruti, A., additional, Hadoux, J., additional, Moalla, S., additional, Laboureau, S., additional, Noelting, S., additional, de la Fouchardière, C., additional, Kienitz, T., additional, Deutschbein, T., additional, Zovato, S., additional, Amar, L., additional, Tabarin, A., additional, Timmers, H.J., additional, Niccoli, P., additional, Faggiano, A., additional, Beuschlein, F., additional, Attard, M., additional, Texier, M., additional, and Fassnacht, M., additional

Published
2021
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19. A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics

Author

Curras-Freixes, M, Pineiro-Yanez, E, Montero-Conde, C, Apellaniz-Ruiz, M, Calsina, B, Mancikova, V, Remacha, L, Richter, S, Ercolino, T, Rogowski-Lehmann, N, Deutschbein, T, Calatayud, M, Guadalix, S, Alvarez-Escola, C, Lamas, C, Aller, J, Sastre-Marcos, J, Lazaro, C (Conxi), Galofre, JC, Patino-Garcia, A, Meoro-Aviles, A, Balmana-Gelpi, J, De Miguel-Novoa, P, Balbin, M, Matias-Guiu, X, Leton, R, Inglada-Perez, L, Torres-Perez, R, Roldan-Romero, JM, Rodriguez-Antona, C, Fliedner, SMJ, Opocher, G, Pacak, K, Korpershoek, Esther, de Krijger, Ronald, Vroonen, L, Mannelli, M, Fassnacht, M, Beuschlein, F, Eisenhofer, G, Cascon, A, Al-Shahrour, F, Robledo, M, and Pathology

Published
2017

20. [OP.3A.06] LONG TERM FOLLOW-UP IN PATIENTS OPERATED ON A PHEOCHROMOCYTOMA OR A PARAGANGLIOMA

Author

Amar, L., primary, Deutschbein, T., additional, Piscaer, I., additional, Brugger, C., additional, Canu, L., additional, Bertherat, J., additional, Lepoutre, C., additional, Dekkers, O., additional, Stell, A., additional, Gimenez-roqueplo, A., additional, Fassnacht, M., additional, Robledo, M., additional, Mannelli, M., additional, Lenders, J., additional, Timmers, H., additional, Beuschlein, F., additional, Curras-freixes, M., additional, Plouin, P.-F., additional, and Steichen, O., additional

Published
2016
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21. Une grossesse n’aggrave pas le pronostic de femmes antérieurement traitées pour un corticosurrénalome malin

Author

De Corbière, P., primary, Ritzel, K., additional, Cazabat, L., additional, Ropers, J., additional, Schott, M., additional, Libe, R., additional, Koschker, A.C., additional, Leboulleux, S., additional, Deutschbein, T., additional, Docao, C., additional, Hahner, S., additional, Drui, D., additional, Miehle, K., additional, Caron, P., additional, Waldmann, J., additional, Olivier, C., additional, Quinkler, M., additional, Fragoso, M., additional, Bertherat, J., additional, Bertagna, X., additional, Fassnacht, M., additional, and Raffin-Sanson, M.L., additional

Published
2015
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23. Mitotane inhibits sterol-o-acyltransferase leading to lipid-mediated endoplasmic reticulum stress and apoptosis of adrenocortical carcinoma cells

Author

Sbiera, S, primary, Fassnacht, M, additional, Leich, E, additional, Liebisch, G, additional, Schirbel, A, additional, Wiemer, L, additional, Matysik, S, additional, Vanselow, JT, additional, Gardill, F, additional, Gehl, A, additional, Kendl, S, additional, König, M, additional, Bala, M, additional, Ronchi, C, additional, Deutschbein, T, additional, Schlosser, A, additional, Schmitz, G, additional, Rosenwald, A, additional, Allolio, B, additional, and Kroiß, M, additional

Published
2015
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34. Deutsches Nebennierenrindenkarzinom-Register

Author

Reibetanz, J., primary, Kroiss, M., additional, Deutschbein, T., additional, Fenske, W., additional, Gasser, M., additional, Jurowich, C., additional, Germer, C.-T., additional, Allolio, B., additional, and Fassnacht, M., additional

Published
2012
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44. Monitoring Medical Treatment in Adolescents and Young Adults with Congenital Adrenal Hyperplasia: Utility of Salivary 17 α -Hydroxyprogesterone Day Profiles.

Author

Deutschbein, T., Unger, N., Hauffa, B. P., Schaaf, K., Mann, K., and Petersenn, S.

Subjects
*ADRENOGENITAL syndrome, *THERAPEUTICS research, *HYDROXYPROGESTERONE, *BIOACTIVE compounds, *SALIVA, *SERUM, *THERAPEUTICS
Abstract

Introduction: Efficacy of medical treatment in patients with 21-hydroxylase deficiency is usually monitored by measurement of 17 α -hydroxyprogesterone (17OHP). Saliva instead of serum sampling offers some advantages, such as painless handling and measurement of the bioactive free hormone. This study evaluated the diagnostic validity of salivary 17OHP for monitoring medical treatment, with samples collected at 7 time points throughout a day. Subjects and Methods: Day profiles were performed in 23 adolescents and young adults with 21-hydroxylase deficiency and 43 healthy volunteers. During each profile, saliva and serum samples for 17OHP were simultaneously collected. Results: With regard to the initial day profiles, samples were pathological in 63 % (saliva) and 41 % (serum). After the first day profile 14 patients underwent adjustment of medical treatment, either because of highly elevated 17OHP levels or with the aim of dose reduction. When comparing the best with the first day profile fewer samples were pathological (saliva: 32 % vs. 71 % ; p < 0.05; serum: 21 % vs. 47 % ; n. s.), while the mean hydrocortisone equivalent dose was significantly reduced (20.09 mg vs. 27.27 mg; p < 0.01). In 53 % of profiles with controlled salivary 17OHP levels at 0700 h, the necessity for a treatment modification became only apparent when analyzing the whole day profile. Conclusion: A single 0700 h value within the reference range does not allow for a reliable assessment of therapeutic efficacy. We therefore suggest 17OHP day profiles for monitoring medical treatment. In this context, saliva analysis appears to be more sensitive in identifying patients who are inadequately treated. [ABSTRACT FROM AUTHOR]

Published
2011
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46. Long-term safety and efficacy of subcutaneous pasireotide in patients with Cushing’s disease: interim results from a long-term real-world evidence study

Author

Michael Roughton, Ricardo Maamari, Ulrike Kriemler-Krahn, Libuse Tauchmanova, Jochen Schopohl, Carla Giordano, Timo Deutschbein, Kevin C J Yuen, Luca Manetti, Manetti L., Deutschbein T., Schopohl J., Yuen K.C.J., Roughton M., Kriemler-Krahn U., Tauchmanova L., Maamari R., and Giordano C.

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Hypercortisolism, 030209 endocrinology & metabolism, Disease, Article, Settore MED/13 - Endocrinologia, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Interim, medicine, Humans, Multicenter Studies as Topic, In patient, Pituitary ACTH Hypersecretion, business.industry, Pituitary ACTH hypersecretion, Cushing's disease, Middle Aged, Cushing’s disease, medicine.disease, Pasireotide, Clinical trial, Treatment Outcome, Pituitary, chemistry, Hyperglycemia, Female, Long term safety, Safety, Somatostatin, business, 030217 neurology & neurosurgery
Abstract

Purpose Clinical trials have demonstrated the favorable efficacy/safety profile of pasireotide in patients with Cushing’s disease (CD). We report interim long-term results of an ongoing real-world evidence study of subcutaneous pasireotide in patients with CD. Methods Adults with CD receiving pasireotide, initiated before (prior-use) or at study entry (new-use), were monitored for ≤ 3 years during a multicenter observational study (http://clinicaltrials.gov identifier NCT02310269). Primary objective was to assess long-term safety of pasireotide alone or with other CD therapies. Results At the time of this interim analysis, 127 patients had received pasireotide (new-use, n = 31; prior-use, n = 96). Eight patients had completed the 3-year observation period, 53 were ongoing, and 66 had discontinued. Among 31 new-use and 92 prior-use patients with ≥ 1 safety assessment, respectively: 24 (77%) and 37 (40%) had drug-related adverse events (AEs); 7 (23%) and 10 (11%) had serious drug-related AEs. Most common drug-related AEs were nausea (14%), hyperglycemia (11%) and diarrhea (11%); these were more frequently reported in new users and mostly of mild-to-moderate severity. 14 (45%) new-use and 15 (16%) prior-use patients experienced hyperglycemia-related AEs. Mean urinary free cortisol (mUFC) was within normal range at baseline and months 1, 12 and 24, respectively, in: 1/16 (6%), 9/18 (50%), 1/3 (33%) and 0/0 new users; 28/43 (65%), 15/27 (56%), 27/33 (82%) and 12/19 (63%) prior users. Conclusions Pasireotide is well tolerated and provides sustained reductions in mUFC during real-world treatment of CD. The lower rate of hyperglycemia-related AEs in prior users suggests that hyperglycemia tends not to deteriorate if effectively managed soon after onset. Clinical Trial Registration Number: NCT02310269.

Published
2019

47. Long-Term Outcome of Primary Bilateral Macronodular Adrenocortical Hyperplasia After Unilateral Adrenalectomy

Author

Felix Beuschlein, Martin Reincke, Stephanie Zopp, Guido Di Dalmazi, Jérôme Bertherat, German Rubinstein, Andrea Osswald, Timo Deutschbein, Katrin Ritzel, Marcus Quinkler, Osswald A., Quinkler M., Di Dalmazi G., Deutschbein T., Rubinstein G., Ritzel K., Zopp S., Bertherat J., Beuschlein F., and Reincke M.

Subjects
medicine.medical_specialty, Adenoma, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Clinical Biochemistry, 030209 endocrinology & metabolism, Context (language use), Biochemistry, 03 medical and health sciences, Cushing syndrome, 0302 clinical medicine, Endocrinology, Quality of life, Internal medicine, medicine, business.industry, PBMAH, primary bilateral macronodular adrenocortical hyperplasia, adrenalectomy, adrenal Cushing’s syndrome, hypercortisolism, Adrenalectomy, Biochemistry (medical), Adrenal crisis, Retrospective cohort study, Hyperplasia, medicine.disease, Surgery, 030220 oncology & carcinogenesis, medicine.symptom, business, hormones, hormone substitutes, and hormone antagonists
Abstract

Context Unilateral adrenalectomy has been proposed in selected patients with primary bilateral macronodular adrenocortical hyperplasia (PBMAH), but its long-term outcome is unclear. Objective The aim of this study was to analyze long-term clinical and biochemical outcomes of unilateral adrenalectomy vs bilateral adrenalectomy in patients with PBMAH in comparison with the outcome of cortisol-producing adenoma (CPA) treated with unilateral adrenalectomy. Design Retrospective observational study in three German and one Italian academic tertiary care center. Patients and methods Twenty-five patients with PBMAH after unilateral adrenalectomy (unilat-ADX-PBMAH), nine patients with PBMAH and bilateral adrenalectomy (bilat-ADX-PBMAH), and 39 patients with CPA and unilateral adrenalectomy (unilat-ADX-CPA) were included. Results Baseline clinical and biochemical parameters were comparable in patients with unilat-ADX-PBMAH, bilat-ADX-PBMAH, and unilat-ADX-CPA. Directly after surgery, 84% of the patients with unilat-ADX-PBMAH experienced initial remission of Cushing syndrome (CS). In contrast, at last follow-up (median, 50 months), 32% of the patients with unilat-ADX-PBMAH were biochemically controlled compared with nearly all patients in the other two groups (P = 0.000). Adrenalectomy of the contralateral side had to be performed in 12% of the initial patients with unilat-ADX-PBMAH. Three of 20 patients with unilat-ADX-PBMAH (15%) died during follow-up, presumably of CS-related causes; no deaths occurred in the other two groups (P = 0.008). Deaths occurred exclusively in patients who were not biochemically controlled after unilateral ADX. Conclusions Our data suggest that unilateral adrenalectomy of patients with PBMAH leads to clinical remission and a lower incidence of adrenal crisis but in less sufficient biochemical control of hypercortisolism, potentially leading to higher mortality.

Published
2019

48. Adverse skeletal related events in patients with bone-metastatic pheochromocytoma/paraganglioma.

Author

Laganà M, Habra MA, Remde H, Almeida MQ, Cosentini D, Pusceddu S, Grana CM, Corssmit EPM, Bongiovanni A, De Filpo G, Lim ES, Zamparini M, Grisanti S, Deutschbein T, Fassnacht M, Fagundes GFC, Pereira MAA, Oldani S, Rota S, Prinzi N, Jimenez C, and Berruti A

Subjects
Humans, Male, Female, Middle Aged, Retrospective Studies, Adult, Aged, Young Adult, Spinal Cord Compression etiology, Fractures, Bone etiology, Adolescent, Aged, 80 and over, Hypercalcemia etiology, Risk Factors, Bone Density Conservation Agents therapeutic use, Prognosis, Bone Neoplasms secondary, Bone Neoplasms complications, Pheochromocytoma complications, Pheochromocytoma pathology, Pheochromocytoma mortality, Adrenal Gland Neoplasms secondary, Adrenal Gland Neoplasms complications, Adrenal Gland Neoplasms mortality, Adrenal Gland Neoplasms therapy, Paraganglioma complications, Paraganglioma pathology, Paraganglioma mortality
Abstract

Metastatic pheochromocytomas and paragangliomas (PPGLs) are frequently associated with skeletal complications. Primary objective: to describe the frequency of adverse skeletal related events (SREs) in PPGL patients with bone metastases (BMs). Secondary objectives: to 1) identify predictive and prognostic factors for SREs and 2) obtain information on the effectiveness of bone resorption inhibitors in reducing SRE risk and improving outcomes in term of survival and SREs time onset. In this retrospective multicenter, multinational study, 294 PPGL patients were enrolled. SREs occurred in 90 patients (31 %). Fifty-five patients (19 %) had bone fractures, 47 (16 %) had spinal cord compression, and 11 (4 %) had hypercalcemia. Twenty-two patients (7 %) had more than one SRE. Sixty-four patients (22 %) underwent surgery, and 136 (46 %) underwent radiotherapy. SREs occurred a median of 4.4 months after diagnosis of BM (range, 0-246.6 months). Independent factors associated with reduced risk of SREs in multivariable analysis were I-131-MIBG radionuclide therapy (hazard ratio [HR], 0.536 [95 % CI, 0.309-0.932]; P = .027) and absence of liver metastases (HR, 0.638 [95 % CI, 0.410-0.992]; P = .046). The median overall survival duration was 5.3 year. In multivariable analysis, age younger than 48 years at PPGL diagnosis (HR, 0.558 [95 % CI, 0.3877-0.806]; P = .002), absence of liver metastases (HR, 0.618 [95 % CI, 0.396-0.965]; P = .034), treatment with bisphosphonates or denosumab (HR, 0.598 [95 % CI, 0.405-0.884]; P = .010), and MIBG radionuclide therapy (HR, 0.444 [95 % CI, 0.274-0.718]; P = .001) were associated with a reduced risk of death. SREs occur frequently and early in bone-metastatic PPGL patients but do not negatively impact survival. MIBG radionuclide therapy and treatment with bone resorption inhibitors are associated with favorable outcome., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Published
2024
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49. Diagnosis and management of urinary bladder paragangliomas: A Sino-American-European retrospective observational study.

Author

Pang Y, Zhang J, Jiang J, Pamporaki C, Li M, Bechmann N, Meuter L, Wei Y, Huang H, Huang S, Yu X, Robledo M, Soria MJ, Zhong D, Xu S, Timmers HJLM, Langenhuijsen JF, Chen X, Deng W, Deutschbein T, Remde H, Wang L, Yao H, Yan B, Berends AMA, Kerstens MN, Jiang Y, Crona J, Xu N, Cai H, Wen Y, Wang A, Wu J, Zhang Z, Ning J, Cheng F, Chen X, Wang J, Xie B, Chen D, Liu Y, Liu L, Pacak K, Eisenhofer G, and Lenders JWM

Subjects
Humans, Middle Aged, Retrospective Studies, Female, Male, Adult, Europe, United States, Aged, China, Urinary Bladder Neoplasms diagnosis, Paraganglioma diagnosis, Paraganglioma surgery
Abstract

Objective: Paragangliomas of the urinary bladder (UBPGLs) are rare neuroendocrine tumours and pose a diagnostic and surgical challenge. It remains unclear what factors contribute to a timely presurgical diagnosis. The purpose of this study is to identify factors contributing to missing the diagnosis of UBPGLs before surgery., Design, Patients and Measurements: A total of 73 patients from 11 centres in China, and 51 patients from 6 centres in Europe and 1 center in the United States were included. Clinical, surgical and genetic data were collected and compared in patients diagnosed before versus after surgery. Logistic regression analysis was used to identify clinical factors associated with initiation of presurgical biochemical testing., Results: Among all patients, only 47.6% were diagnosed before surgery. These patients were younger (34.0 vs. 54.0 years, p < .001), had larger tumours (2.9 vs. 1.8 cm, p < .001), and more had a SDHB pathogenic variant (54.7% vs. 11.9%, p < .001) than those diagnosed after surgery. Patients with presurgical diagnosis presented with more micturition spells (39.7% vs. 15.9%, p = .003), hypertension (50.0% vs. 31.7%, p = .041) and catecholamine-related symptoms (37.9% vs. 17.5%, p = .012). Multivariable logistic analysis revealed that presence of younger age (<35 years, odds ratio [OR] = 6.47, p = .013), micturition spells (OR = 6.79, p = .007), hypertension (OR = 3.98, p = .011), and sweating (OR = 41.72, p = .013) increased the probability of initiating presurgical biochemical testing., Conclusions: Most patients with UBPGL are diagnosed after surgery. Young age, hypertension, micturition spells and sweating are clues in assisting to initiate early biochemical testing and thus may establish a timely presurgical diagnosis., (© 2024 John Wiley & Sons Ltd.)

Published
2024
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50. Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression.

Author

Apps JR, Gonzalez-Meljem JM, Guiho R, Pickles JC, Prince E, Schwalbe E, Joshi N, Stone TJ, Ogunbiyi O, Chalker J, Bassey A, Otto G, Davies R, Hughes D, Brandner S, Tan E, Lee V, Hayhurst C, Kline C, Castellano S, Hankinson T, Deutschbein T, Jacques TS, and Martinez-Barbera JP

Subjects
Animals, Female, Humans, Male, Mice, beta Catenin genetics, beta Catenin metabolism, Disease Progression, Clonal Evolution genetics, Craniopharyngioma genetics, Craniopharyngioma pathology, Craniopharyngioma metabolism, MAP Kinase Signaling System genetics, MAP Kinase Signaling System physiology, Neoplasm Recurrence, Local genetics, Neoplasm Recurrence, Local pathology, Pituitary Neoplasms genetics, Pituitary Neoplasms pathology, Pituitary Neoplasms metabolism, Tumor Suppressor Protein p53 genetics, Tumor Suppressor Protein p53 metabolism
Abstract

The two types of craniopharyngioma, adamantinomatous (ACP) and papillary (PCP), are clinically relevant tumours in children and adults. Although the biology of primary craniopharyngioma is starting to be unravelled, little is known about the biology of recurrence. To fill this gap in knowledge, we have analysed through methylation array, RNA sequencing and pERK1/2 immunohistochemistry a cohort of paired primary and recurrent samples (32 samples from 14 cases of ACP and 4 cases of PCP). We show the presence of copy number alterations and clonal evolution across recurrence in 6 cases of ACP, and analysis of additional whole genome sequencing data from the Children's Brain Tumour Network confirms chromosomal arm copy number changes in at least 7/67 ACP cases. The activation of the MAPK/ERK pathway, a feature previously shown in primary ACP, is observed in all but one recurrent cases of ACP. The only ACP without MAPK activation is an aggressive case of recurrent malignant human craniopharyngioma harbouring a CTNNB1 mutation and loss of TP53. Providing support for a functional role of this TP53 mutation, we show that Trp53 loss in a murine model of ACP results in aggressive tumours and reduced mouse survival. Finally, we characterise the tumour immune infiltrate showing differences in the cellular composition and spatial distribution between ACP and PCP. Together, these analyses have revealed novel insights into recurrent craniopharyngioma and provided preclinical evidence supporting the evaluation of MAPK pathway inhibitors and immunomodulatory approaches in clinical trials in against recurrent ACP., (© 2024. The Author(s).)

Published
2024
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