Background. Despite many treatment approaches, survival rates in high grade glial tumors are still not at the desired level. One of the cause of this failure might be that although having similar histologic features, they may display different biological behaviors depending on molecular heterogeneity. Case. A 10-year-old girl presented with sudden onset left sided hemiparesis, headache, and ataxia. Physical examination was normal except for left sided hemiparesis and ataxia. A hyperintense mass lesion involving the bilateral thalamus was detected in the axial T2-weighted and coronal FLAIR sequences on brain MRI. There was no enhancement in axial T1-weighted contrast-enhanced sequences. Due to the size and location of the tumor, the patient was considered inoperable. Intensity modulated radiotherapy was intended for curative treatment to the patient because the radiological findings suggested a low-grade glial tumor. Tumor was unresponsive to radiotherapy but biopsy could be performed. The histopathological examination revealed a diffuse glial tumor with increased cellularity, mild nuclear atypia and rare mitosis. Due to the infiltrative pattern of the tumor, it was accepted as a high grade diffuse glial tumor. A chemotherapy protocol including cisplatin and etoposide in the first cycle, vincristine and cyclophosphamide in the second cycle, and carboplatin and vincristine in the third cycle were instituted to the patient. After the third cycle of chemotherapy, the tumor progressed radiologically. H3.1 K27M c.83A > T (HIST1H3C p.Lys28Met), ATRX c.2169_2170del (p.Glu723AspfsTer9), TP53 c.338T > C (p.Phe113Ser), and EGFR c.2300_2308dup (p.Ala767_va1769dup) were detected in the genetic assessment of tumor tissue. The patient`s treatment was changed to vincristine, temozolomide, and irinotecan. Unfortunately, MRI showed progression after three cycles of second-line chemotherapy. The patient`s family refused any further treatment, and the patient died with progressive disease in a short time. Conclusions. EGFR mutation along with H3.1 K27M mutation is extremely rare in children to our knowledge. It should be kept in mind that if there is a possibility of targeted therapy, there may be a treatment option in this malignant disease with a poor prognosis.
Although treatment-related secondary malignancies are rare, they are important problems after the treatment of childhood malignant diseases. Irradiation-induced sarcomas are the development of sarcoma different from the primary tumor after a latent period of ≥3 years or more in the radiotherapy field. Desmoid tumor is extremely rare as irradiation-induced tumor. A 7.5-year-old girl was referred to our hospital after a subtotal mass excision for a solid lesion with a cystic component located in the pineal gland. Pathologic examination revealed pineoblastoma. After surgery, craniospinal radiotherapy, and chemotherapy consisting of vincristine, cisplatin, and etoposide were performed. Painless swelling in the left parieto-occipital region ~75 months after the end of the treatment developed in the patient. A mass was detected in the intracranial but extra-axial region by radiologic imaging methods. Due to the total removal of the mass and the absence of a tumor in the surgical margins, she was followed up without additional treatment. The pathologic diagnosis was a desmoid tumor. She was followed up disease free for ~7 years after the primary tumor and ~7 months after the secondary tumor. Treatment-related desmoid tumor development after treatment for a central nervous system tumor in a child is extremely rare.
Background/aim Morphological differences that can lead the trigeminal nerve to neurovascular conflict and a new solitary pontine lesion are associated with the pathogenesis of trigeminal neuralgia (TN). In this case-control study, we aimed to contribute to the current discussions about the pathogenesis of TN by investigating the anatomical structures that may have an effect on the morphometric parameters of the trigeminal nerve. Materials and methods This study included 25 patients with TN followed up for pain in the Department of Algology, Faculty of Medicine, and 25 age- and gender-matched controls. We performed morphometric measurements including the length and volume of the trigeminal nerve, cerebellopontine cistern, pons, and posterior fossa in the MRIs of these individuals. Comparative analyses were performed for the mean of the affected and unaffected sides of the TN patients and the right, left, and both sides of the control group. Results In patients with TN, on the affected side, length and volume of the trigeminal nerve and cerebellopontine cistern volume were found smaller than controls (p < 0.05). Pons volume was higher in patients with TN compared to controls (p < 0.05). The length of the affected nerve was significantly related to prepontine cistern length and cerebellopontine cistern volume (p < 0.05). Conclusion The cerebellopontine cistern volume has a significant impact on the morphometric characteristics of the trigeminal nerve. Especially, whether the increase in the volume of pons causes a decrease in the volume of cerebellopontine cistern should be clarified with further research.
To identify radiological findings of diaphragmatic mesothelial cysts (DMC) in the pediatric age group and to assess follow-up outcomes. In this study, 27 pediatric age group patients were evaluated with ultrasonography (US), computed tomography (CT), or magnetic resonance imaging due to various clinical indications and diagnosed with DMC from May 2014 to September 2018. Age, sex, imaging indications and DMC localization, volumes in the first diagnosis, and follow-ups were retrospectively evaluated. Descriptive statistics were used for age, sex, imaging indications, and volume are presented as numbers and percentages. Ages range from 5 months to 13 years. Nine girls and 18 boys included in this study. The most common imaging indications were abdominal pain, diarrhea, and obesity. The mean volume of DMC was at first 2.62 and 2.45 mL during the follow-ups. There was volume reduction in 24 cases, and no change in 3 cases. Mean follow-up duration was 22.4 months. The US imaging findings were similar for all cases, bilobular cystic lesion with fat indentation between the cyst and liver parenchyma. The typical localization and lateral fat sign are useful in differential diagnosis of DMC from cystic lesions of liver. The US is a very effective and beneficial radiological method for diagnosis and follow-up. Routine clinical and sonographic follow-ups may be sufficient for asymptomatic patients with stable cyst volume.
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