Navigating Rarity: Pathological Challenges and Diagnostic Ambiguity in Rare Gliomas—A Case Series with a Focus on Personalized Treatment and Quality of Life
Gliomas are incurable, heterogeneous brain tumors, with rare forms often constituting diagnostic and treatment challenges. Molecular diagnostics, mainly implemented through the World Health Organization (WHO) 2021 guidelines, have refined the classification, but highlight difficulties in diagnosing...
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2025-06-01
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| author | Nadja Grübel Anika Wickert Felix Sahm Bernd Schmitz Anja Osterloh Rebecca Kassubek Ralph König Christian Rainer Wirtz Jens Engelke Andrej Pala Mona Laible |
| author_facet | Nadja Grübel Anika Wickert Felix Sahm Bernd Schmitz Anja Osterloh Rebecca Kassubek Ralph König Christian Rainer Wirtz Jens Engelke Andrej Pala Mona Laible |
| author_sort | Nadja Grübel |
| collection | DOAJ |
| description | Gliomas are incurable, heterogeneous brain tumors, with rare forms often constituting diagnostic and treatment challenges. Molecular diagnostics, mainly implemented through the World Health Organization (WHO) 2021 guidelines, have refined the classification, but highlight difficulties in diagnosing rare gliomas remain. This case series analyzes four patients with rare gliomas treated at the University Hospital, Ulm, between 2002 and 2024. Patients were selected based on unique histopathological features and long-term clinical follow-up. Clinical records, imaging, and histological data were reviewed. Molecular diagnostics followed WHO 2021 guidelines. Quality of life was assessed using standardized tools including the EQ-5D-5L, EQ VAS, the Distress Thermometer, and the Montreal Cognitive Assessment (MoCA). In the first case, a 51-year-old male’s diagnosis evolved from pleomorphic xanthoastrocytoma to a high-grade glioma with pleomorphic and pseudopapillary features, later identified as a neuroepithelial tumor with a PATZ1 fusion over 12 years. Despite multiple recurrences, extensive surgical interventions led to excellent outcomes. The second case involved a young female with long-term survival of astroblastoma, demonstrating significant improvements in both longevity and quality of life through personalized care. The third case involved a patient with oligodendroglioma, later transforming into glioblastoma, emphasizing the importance of continuous diagnostic reevaluation and adaptive treatment strategies, contributing to prolonged survival and quality of life improvements. Remarkably, the patient has achieved over 20 years of survival, including 10 years of being both therapy- and progression-free. The fourth case presents a young woman with neurofibromatosis type 1, initially misdiagnosed with glioblastoma based on histopathological findings. Subsequent molecular diagnostics revealed a subependymal giant cell astrocytoma-like astrocytoma, highlighting the critical role of early advanced diagnostic techniques. These cases underscore the importance of precise molecular diagnostics, individualized treatments, and ongoing diagnostic reevaluation to optimize outcomes. They also address the psychological impact of evolving diagnoses, stressing the need for comprehensive patient support. Even in complex cases, extensive surgical interventions can yield favorable results, reinforcing the value of adaptive, multidisciplinary strategies based on evolving tumor characteristics. |
| format | Article |
| id | doaj-art-212555e472824fd99a7ec93a6d260b38 |
| institution | Kabale University |
| issn | 2673-7523 |
| language | English |
| publishDate | 2025-06-01 |
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| series | Onco |
| spelling | doaj-art-212555e472824fd99a7ec93a6d260b382025-08-20T03:27:39ZengMDPI AGOnco2673-75232025-06-01522810.3390/onco5020028Navigating Rarity: Pathological Challenges and Diagnostic Ambiguity in Rare Gliomas—A Case Series with a Focus on Personalized Treatment and Quality of LifeNadja Grübel0Anika Wickert1Felix Sahm2Bernd Schmitz3Anja Osterloh4Rebecca Kassubek5Ralph König6Christian Rainer Wirtz7Jens Engelke8Andrej Pala9Mona Laible10Department of Neurosurgery, BKH Günzburg at Ulm University, Lindenallee 2, 89312 Günzburg, GermanyDepartment of Neurosurgery, BKH Günzburg at Ulm University, Lindenallee 2, 89312 Günzburg, GermanyDepartment of Neuropathology, University Clinic Heidelberg, 69120 Heidelberg, GermanyDepartment of Neuroradiology, BKH Günzburg at Ulm University, Lindenallee 2, 89312 Günzburg, GermanyDepartment of Neuropathology, BKH Günzburg at Ulm University, Lindenallee 2, 89312 Günzburg, GermanyDepartment of Neurology, University and Rehabilitation Clinic, Oberer Eselsberg 45, 89081 Ulm, GermanyDepartment of Neurosurgery, BKH Günzburg at Ulm University, Lindenallee 2, 89312 Günzburg, GermanyDepartment of Neurosurgery, BKH Günzburg at Ulm University, Lindenallee 2, 89312 Günzburg, GermanyDepartment of Neurosurgery, BKH Günzburg at Ulm University, Lindenallee 2, 89312 Günzburg, GermanyDepartment of Neurosurgery, BKH Günzburg at Ulm University, Lindenallee 2, 89312 Günzburg, GermanyDepartment of Neurology, University and Rehabilitation Clinic, Oberer Eselsberg 45, 89081 Ulm, GermanyGliomas are incurable, heterogeneous brain tumors, with rare forms often constituting diagnostic and treatment challenges. Molecular diagnostics, mainly implemented through the World Health Organization (WHO) 2021 guidelines, have refined the classification, but highlight difficulties in diagnosing rare gliomas remain. This case series analyzes four patients with rare gliomas treated at the University Hospital, Ulm, between 2002 and 2024. Patients were selected based on unique histopathological features and long-term clinical follow-up. Clinical records, imaging, and histological data were reviewed. Molecular diagnostics followed WHO 2021 guidelines. Quality of life was assessed using standardized tools including the EQ-5D-5L, EQ VAS, the Distress Thermometer, and the Montreal Cognitive Assessment (MoCA). In the first case, a 51-year-old male’s diagnosis evolved from pleomorphic xanthoastrocytoma to a high-grade glioma with pleomorphic and pseudopapillary features, later identified as a neuroepithelial tumor with a PATZ1 fusion over 12 years. Despite multiple recurrences, extensive surgical interventions led to excellent outcomes. The second case involved a young female with long-term survival of astroblastoma, demonstrating significant improvements in both longevity and quality of life through personalized care. The third case involved a patient with oligodendroglioma, later transforming into glioblastoma, emphasizing the importance of continuous diagnostic reevaluation and adaptive treatment strategies, contributing to prolonged survival and quality of life improvements. Remarkably, the patient has achieved over 20 years of survival, including 10 years of being both therapy- and progression-free. The fourth case presents a young woman with neurofibromatosis type 1, initially misdiagnosed with glioblastoma based on histopathological findings. Subsequent molecular diagnostics revealed a subependymal giant cell astrocytoma-like astrocytoma, highlighting the critical role of early advanced diagnostic techniques. These cases underscore the importance of precise molecular diagnostics, individualized treatments, and ongoing diagnostic reevaluation to optimize outcomes. They also address the psychological impact of evolving diagnoses, stressing the need for comprehensive patient support. Even in complex cases, extensive surgical interventions can yield favorable results, reinforcing the value of adaptive, multidisciplinary strategies based on evolving tumor characteristics.https://www.mdpi.com/2673-7523/5/2/28rare gliomasmolecular diagnosispersonalized treatmentlong-term survivalquality of lifeneuro-oncology |
| spellingShingle | Nadja Grübel Anika Wickert Felix Sahm Bernd Schmitz Anja Osterloh Rebecca Kassubek Ralph König Christian Rainer Wirtz Jens Engelke Andrej Pala Mona Laible Navigating Rarity: Pathological Challenges and Diagnostic Ambiguity in Rare Gliomas—A Case Series with a Focus on Personalized Treatment and Quality of Life Onco rare gliomas molecular diagnosis personalized treatment long-term survival quality of life neuro-oncology |
| title | Navigating Rarity: Pathological Challenges and Diagnostic Ambiguity in Rare Gliomas—A Case Series with a Focus on Personalized Treatment and Quality of Life |
| title_full | Navigating Rarity: Pathological Challenges and Diagnostic Ambiguity in Rare Gliomas—A Case Series with a Focus on Personalized Treatment and Quality of Life |
| title_fullStr | Navigating Rarity: Pathological Challenges and Diagnostic Ambiguity in Rare Gliomas—A Case Series with a Focus on Personalized Treatment and Quality of Life |
| title_full_unstemmed | Navigating Rarity: Pathological Challenges and Diagnostic Ambiguity in Rare Gliomas—A Case Series with a Focus on Personalized Treatment and Quality of Life |
| title_short | Navigating Rarity: Pathological Challenges and Diagnostic Ambiguity in Rare Gliomas—A Case Series with a Focus on Personalized Treatment and Quality of Life |
| title_sort | navigating rarity pathological challenges and diagnostic ambiguity in rare gliomas a case series with a focus on personalized treatment and quality of life |
| topic | rare gliomas molecular diagnosis personalized treatment long-term survival quality of life neuro-oncology |
| url | https://www.mdpi.com/2673-7523/5/2/28 |
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