Neurogenic low-grade polymorphic tumors in young people (PLNTY) are considered a rare condition in the central nervous system, often observed among children and young adults. In this article, we highlight a unique medical case of a 41-year-old man who was diagnosed successively with PLNTY and then with supratentorial ependymoma within a short period. By addressing this topic, we discuss the complications associated with these rare tumors, the challenges faced by doctors in identifying and treating them, as well as the lessons that can be learned from this case. We also explore potential similarities between these tumors, opening the door for further research and study to understand the possible connections between them.
Pure neurogenic low-grade polymorphism in young people (PLNTY)
The pure neurogenic low-grade polymorphism in young people is considered a rare disease affecting the central nervous system, particularly in the pediatric and young adult age groups. This type of tumor was identified in 2017 and is characterized by infiltrative growth and complex targets that partially resemble other tumors such as meningiomas and gliomas. Patients typically experience symptoms such as headaches, focal neurological deficits, and seizures. This tumor usually presents after a long period of slow growth and is often identified during head imaging examinations. The pathological features of the tumor include mutations in genes related to BRAF protein or fibroblast growth factor receptors (FGFR2 and FGFR3). Surgical resection, known in medical terms as total radical excision, is the primary treatment option, often resulting in significant improvement for patients post-surgery.
Meningiomas and affected age groups
Meningiomas are among the common tumors of the central nervous system, and they are also associated with an increased incidence in early childhood. These tumors are classified based on their anatomical location, divided into two groups: infratentorial and supratentorial meningiomas. The clinical symptoms of meningiomas present in a variety of patterns based on the tumor’s location, and can include increased intracranial pressure, focal neurological deficits, and seizures. The international classification of nervous system tumors assigns different grades based on physical and genetic characteristics. Within these categories, meningiomas present with rare manifestations in adults, highlighting the importance of ongoing research into these tumors and their metabolic properties.
Treatment response and multidisciplinary care
Managing neurogenic tumors requires careful planning and specialized care, involving a range of disciplines such as neurosurgery, radiology, pathology, and oncology. In the case of our patient, the first tumor was successfully resected, but during close follow-up, a second tumor was identified after several concerning modalities. This situation represents the challenges faced by doctors in providing care that responds to malignant developments in patients’ conditions, necessitating diverse and multiple consultations. Following resection, post-operative care involved preventive radiotherapy, underscoring the importance of continuous follow-up and assessment of cases. These strategies require teamwork to encompass all aspects of treatment and ongoing research in the medical field.
Challenges associated with diagnosing and treating multifocal tumors
Identifying multifocal tumors, as seen in the case presented, is a significant challenge. This case reveals the presence of two distinct tumors, complicating treatment options. The importance of accurate diagnosis and surgical procedures in achieving better patient outcomes is evident. Should the second tumor interfere with treatments for the first tumor, it reflects the need for additional research on the shared effects between these different tumor types. Final treatments often require re-resection or confirmation of tumor type through genetic and tissue examinations. The patient’s experiences contribute to the body of knowledge gained about related tumors and treatment response methods that future generations can benefit from.
Diagnosis
The Sequence of Rare Tumors in the Central Nervous System
Mr. “A” is a rare case of sequential diagnosis of rare tumors in the central nervous system, having been diagnosed with a complex rate in less than a year. Initially, he was diagnosed with a low-grade tumor known as tumor of the young (PLNTY), which was officially recognized in 2017. This type of tumor is often associated with seizures, specifically generalized tonic-clonic seizures, which occurred in the discussed case. Although documented cases of PLNTY in adults are rare, the occurrence of this type of tumor in an adult reflects the unexpected aspect of neurological diagnoses.
After 10 months of the initial diagnosis, Mr. “A” was diagnosed again with another type of rare tumor, which is the anaplastic astrocytoma of grade III. This sequential diagnosis provides deep insight into how tumors develop within the central nervous system and indicates the need to understand the possible relationship between different types of tumors that evolve in a relatively short period.
Managing this case requires providing multidisciplinary medical care, with the medical team studying the case from all its aspects, including genetic data, imaging studies, and pathological diagnosis. Unfortunately, despite intensive treatments, the patient was unable to recover and continued to experience seizures.
Palliative Care and End-of-Life Indicators
After the third surgery, the patient developed serious health complications, leading to the adoption of a palliative care approach in line with his previous wishes. This case highlights the importance of planning for end-of-life care in complex tumor cases. Palliative care focuses on improving quality of life, alleviating distressing symptoms, and providing support to patients and their families during critical times.
Palliative care typically includes several aspects such as pain management, mental health support, and emotional monitoring. The importance of listening to the patient’s wishes at this stage cannot be overstated, as it gives patients the opportunity to express their aspirations and how they prefer to spend their final days. The transition to palliative care signifies the acceptance by the patient and family of their changing health status and the necessity to focus on comfort, reflecting a state of maturity and understanding of the harsh reality they face.
This case indicates the need for more palliative care programs within healthcare institutions, as they can contribute to improving the experiences of patients suffering from chronic illnesses.
The Potential Relationship Between Different Genetic Tumors
The medical case of Mr. “A” has been studied with a focus on the genetic aspects linking the tumors he was diagnosed with. Genetic mutations in the H3F3A gene were discovered, which play a role in tumor formation and appear in both anaplastic and PLNTY tumors. Although the evidence surrounding this link between the two types is insufficient to prove a direct genetic relationship, the notable recurrence of these mutations suggests a need for further research in this area.
This connection between different genetic tumors highlights the importance of investigating potential genetic changes that may predispose a person to developing multiple types of tumors. In the future, research in this direction may lead to the discovery of new factors that help in prevention or treatment, which could completely change future management approaches for tumors in the central nervous system.
Additionally, past experiences shed light on how to collect genetic and therapeutic data, allowing for accelerated scientific discoveries and improved patient outcomes.
Low-Grade Diverse Glioma in Young People (PLNTY)
Low-grade diverse glioma in young people (PLNTY) is a relatively recent classification of low-grade neuroglial tumors that was first described in 2017. PLNTY is considered a rare disease in the central nervous system primarily found in children and young people, where symptoms typically present as headaches, focal neurological deficits, and most commonly, seizures. At the histopathological level, PLNTY is characterized by overlapping growth patterns and oligodendroglioma-like elements, often containing astrocytic and ependymal elements. Immunologically, the tumors are positive for the CD34 marker and usually involve genetic abnormalities associated with specific genes such as BRAF or fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3).
previous reports that PLNTY typically presents in children and young adults; however, there are certain cases of presentation in adults. The main management of PLNTY is complete surgical resection of the tumor, which is often followed by a tumultuous course with symptom regression after the operation. Ependymomas, similar to PLNTY, peak in early childhood, with rare occurrence after the age of 40. Clinical symptoms vary depending on tumor location and may include increased intracranial pressure, focal neurological deficits, and seizures. In pediatric cases, approximately 90% of ependymomas occur intracranially, while in adults, around 65% of ependymomas are located in the spinal cord.
Ependymomas are classified by the World Health Organization (WHO) according to their anatomical location and genetic group. Tumors are grouped according to their anatomical structures into subcerebellar and supratentorial categories, where they are also divided into groups at the molecular level. They are typically managed using a surgical approach for tumor removal, followed by radiation therapy and chemotherapy as needed, employing a multidisciplinary approach.
Clinical Case of PLNTY Tumor and Ependymoma
The clinical case involves a 41-year-old man who presented to the hospital after experiencing a seizure for the first time. The patient reported a new headache in the right frontal area that started 1.5 weeks prior to hospitalization. Socially, he worked at a car agency operating heavy machinery, denied tobacco or recreational drug use, and lived in a medium-sized town where he is married with three children. A CT scan of the brain revealed a mass in the right frontal apex. After a multidisciplinary discussion, surgical resection was recommended.
The surgery was performed and the diagnosis was confirmed through histopathological examination as PLNTY tumor. The patient recovered postoperatively and did not require adjuvant therapy. However, after ten and a half months from the initial presentation, he developed new symptoms that necessitated further evaluation. Imaging showed a new mass in the left frontal area, and again, his case was discussed in a multidisciplinary team. A biopsy was taken from the left frontal mass, which confirmed it to be a superior type ependymoma connected to the ZFTA gene, resulting in it being classified as Grade 3 by the WHO.
Upon reviewing the immunohistochemical and histological examinations, the results showed that the tumors were positive for white nucleoprotein and certain genes but no mutations in H3F3A were detected. The decision for radiation therapy was made as the next step, where the patient received approximately 5940 cGy in 33 sessions. After the completion of radiation therapy, the patient showed an improvement in his condition, exemplifying what can occur when integrating multidisciplinary studies in managing such cases.
Management of Tumors and Rehabilitation
Management of brain tumors, such as PLNTY and ependymomas, requires a comprehensive approach involving multiple specialties. It is crucial to evaluate all aspects of the clinical condition before determining a treatment plan. Treatment strategies may vary depending on the type and location of the tumor, but surgical intervention is usually necessary as a cornerstone. Furthermore, patients often benefit from targeted integrative treatments such as radiation and chemotherapy; radiation is an important part of the treatment for some types, especially high-grade tumors.
Following the experience with a PLNTY and ependymoma patient case, follow-up is vital. Both PLNTY and ependymoma tumors require regular evaluations, which may include MRI scans and follow-ups with specialized physicians. It is also important to provide psychological support and physical therapy to patients during the recovery period, as treatment side effects can impact overall quality of life. Treatment effects on the patient may include persistent fatigue, motor weakness, or any other difficulties requiring intervention.
Contributing
rehabilitation aims to return to a normal lifestyle as much as possible, where physical exercises can be included to help patients regain their strength and coordination skills. The most effective communication between the healthcare team and the patient is key in the rehabilitation process to ensure that treatments align with the patient’s needs and facilitate knowledge about every step of the treatment, thus enhancing the patient’s acceptance of the prescribed therapeutic regimen.
Case Developments of Mr. A: Diagnosis of Neurogenic Tumors
In the case of Mr. A, who was suffering from increasing headaches and weakness on the right side, a brain tumor was discovered after conducting an MRI scan following radiation therapy. The imaging results indicated the presence of a recurrent or advanced spinal tumor. After a multidisciplinary discussion, a resection of the dorsal spinal tumor (ependymoma) in the left front was performed 43 days after the completion of radiotherapy. Pathological examinations showed that the sample contained approximately 70% necrotic tissue and small areas of viable tumor. Additionally, the results included forms of atypical and flexible cells.
Over time, an MRI focusing on blood vessels was conducted 100 days post-surgery, revealing residual tumor and osseous necrosis as persistent conditions. The situation continued to deteriorate, as imaging performed after 195 days showed hyperplastic and central density tissues, indicating clear signs of tumor progression. With tissue withdrawal from the resection area, doctors recommended a re-resection.
The third surgery, performed 230 days after the previous operation, resulted in unexpected outcomes as it did not show the recognized histological features of ependymoma but rather a residual stellate tumor. Although the case initially leaned towards recovery, emergency health developments led to death on the seventeenth day post-surgery. Mr. A’s experience highlights the complexity of multi-ethnic tumor cases, especially this rare composition.
Neurogenic Tumors: Definition and Clinical Importance
Neurogenic tumors are considered serious threats to brain health and the central nervous system. Tumors vary in types and forms and can be divided into primary and secondary tumors. Primary tumors arise from the growth of cells from nervous tissue, while secondary tumors originate from cells of other tissues that metastasize to the brain. A comprehensive understanding of the various types of tumors is vital for their diagnosis and treatment.
Among the rare types, low-grade pleomorphic neurogenic tumor (PLNTY) is classified, which has seen new research indicating its nature of expansion and impact on those affected. Genetic factors seem to play a role in these types of tumors, as similarity in genetic changes such as mutations in the H3F3A gene has been observed between PLNTY and ependymoma. This is key to understanding the relationships between different types of tumors and their epidemiological drivers.
Exact examination and diagnosis of neurogenic tumors represent a crucial step in treatment. Doctors always aim for an early diagnosis based on complex clinical evidence, requiring a multidisciplinary system of specialists to track developments over time. Such systems can help learn the history of the case and chart the optimal treatment plan from the outset.
Treatment and Management Strategies for Neurogenic Tumors
Treatment strategies for neurogenic tumors involve a combination of surgery, radiation therapy, and chemotherapy. The optimal approach depends on the type of tumor, its stage, and the characteristics of the patient. In the case of Mr. A, a surgical approach was applied first, where the tumor was resected to the greatest extent possible. However, the rapid deterioration of the patient’s health after the third surgery highlighted the challenges faced by treatment strategies in such specific cases.
Treatment
Surgery is the optimal choice in cases where the tumor is localized, allowing for the complete removal of cancerous tissues. This requires exceptional skills from surgeons, especially in areas close to sensitive neurological structures. However, there are cases where surgical intervention is not possible due to the tumor’s location or its severity in affecting surrounding nerves, necessitating a delicate balance between benefits and risks.
Sometimes, after surgery, radiotherapy is utilized as an adjunct treatment to reduce the risks of tumor recurrence. This method is widely used to treat tumors that cannot be completely removed, targeting the remaining tumor cells. However, the effects of treatment, especially in the case of ependymoma, may lead to deterioration in the functions of others. Therefore, psychological and moral support is considered an important part of healthcare to maintain the quality of life for patients during and after the treatment period.
Ethical Challenges and Palliative Care
Confronting neurological tumors is not just a medical experience but a human experience that carries pivotal ethical dimensions. Treatment decisions are not always as straightforward as they seem, as physicians face moral and health-related challenges with patients and their families in exploring available options. After learning that Mr. A’s condition had deteriorated, a difficult decision had to be made to transition to palliative care, which requires great sensitivity from physicians and psychologists.
Palliative care is a necessary approach to improve the quality of life for patients for whom traditional treatments are not beneficial. This care focuses on alleviating pain and side effects resulting from the condition without directly seeking to treat the tumor. This involves implementing pain management strategies and psychological and social therapy to help the patient and their family navigate these difficult times. It often requires working within multidisciplinary medical teams, where psychologists and social workers collaborate with specialists in oncology and neurology to seek optimal solutions.
The feeling of love, care, and support is essential to palliative care, offering a workshop of hope for families during times of hardship. This approach necessitates good listening and clear communication from physicians to ensure that patients feel they are part of the treatment process. Unique experiences, such as Mr. A’s case, serve as a wake-up call urging humane treatment in the field of medicine, highlighting that it is more than just achieving medical outcomes; it requires the incorporation of human emotions in healthcare.
Source link: https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1482832/full
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