Tocilizumab for the fifth progression of cystic childhood craniopharyngioma-a case report.
Ontology highlight
ABSTRACT:
SUBMITTER: de Vos-Kerkhof E
PROVIDER: S-EPMC10598752 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Publications
Tocilizumab for the fifth progression of cystic childhood craniopharyngioma-a case report.
de Vos-Kerkhof Evelien E Buis Dennis R DR Lequin Maarten H MH Bennebroek Carlien A CA Aronica Eleonora E Hulleman Esther E Zwaveling-Soonawala Nitash N van Santen Hanneke M HM Schouten-van Meeteren Antoinette Y N AYN
Frontiers in endocrinology 20231011
We present the case of a 15-year-old girl, with a fifth cystic progression of an adamantinomatous craniopharyngioma after multiple surgeries and previous local radiotherapy. She had severe visual impairment, panhypopituitarism including diabetes insipidus, and several components of hypothalamic damage, including morbid obesity and severe fatigue. To prevent further late effects hampering her quality of survival, she was treated biweekly with intravenous tocilizumab, an anti-interleukin-6 agent, ...[more]
Similar Datasets
Project description:Thanks to the rapid development and progress of endoscopic technology, the endoscopic endonasal transsphenoidal approach has become one of the best surgical methods for resection of sellar and suprasellar tumors. The craniopharyngioma is usually located in the sellar region or suprasellar region, which is suitable for resection through the endoscopic endonasal transsphenoidal approach. The present report describes 21 cases of craniopharyngioma treated by endoscopic endonasal transsphenoidal approach in the Department of Neurosurgery at the Chongqing General Hospital from February 2014 to September 2019. The characteristics of patients and tumors, including clinical symptoms, preoperative magnetic resonance imaging, intraoperative conditions, as well as postoperative and follow-up outcomes were evaluated. The main clinical symptoms were headache in 15 cases, visual deficiency in 13 cases and growth retardation in two cases. All 21 patients with craniopharyngioma underwent endoscopic endonasal transsphenoidal surgery. Of these, 20 patients achieved gross total resection and one case achieved subtotal resection. After surgery, headache symptoms improved in 11 patients without deterioration and the vision of 11 patients improved without deterioration. The primary postoperative complications were pituitary deficiency in eight cases and permanent diabetes insipidus in five cases. The patients were followed up from one to 52 months post-operation. There was no recurrence in all patients during the follow-up period. The endoscopic endonasal transsphenoidal approach is a safe and effective resection for craniopharyngioma. Moreover, the endoscopic endonasal trans-sphenoidal approach is one of the preferred surgical methods for treatment of sellar or suprasellar tumor.
| S-EPMC9932652 | biostudies-literature
Project description:Adamantinomatous craniopharyngioma (ACP) is still often burdened by a poor prognosis in children as far as the risk of recurrence and the quality of life are concerned. Therefore, many efforts are now dedicated to investigate the molecular characteristics of this tumor aiming at finding new therapeutic options. ACP is prevalently a cystic lesion so that an increasing number of researches are focused on the analysis of its cystic content. In the present article, the main results of the current proteomic analysis (PA) on the ACP fluid are summarized. Both "bottom-up" and "top-down" approaches have been utilized. In the bottom-up approach, proteins and peptides are enzymatically or chemically digested prior to liquid chromatography and mass spectrometry analyses. The bottom-up approach pointed out several proteins of the inflammation (namely, α2-HS-glycoprotein, α1-antichymotrypsin and apolipoproteins) as possibly involved in the genesis and growth of the cystic component of ACP. The top-down strategy analyzes proteins and peptides in the intact state, making it particularly suitable for the identification of peptides and low molecular weight proteins and for the characterization of their possible isoforms and post-translational modifications. The top-down approach disclosed the presence of the thymosin β family. Thymosin β4, in particular, which is involved in the cytoskeleton organization and migration of several tumors, could play a role in the progression of ACP. Finally, PA was utilized to investigate alterations in cyst fluid character after treatment with interferon-α. The analyzed samples showed a progressive reduction of the levels of α-defensins (proteins involved in the inflammatory-mediated response) after the intracystic injection of interferon-α, thus reinforcing the hypothesis that inflammation contributes to ACP cyst pathogenesis. Additional studies on the solid component of ACP are still necessary to further validate the previous results and to identify possible markers for targeted therapy.
| S-EPMC8029093 | biostudies-literature
Project description:Purpose:Several recent studies have documented CTNNB1 and BRAF mutations which are mutually exclusive for adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP) tumors. This discovery is helpful in the development of novel targeted therapies in successful clinical trials with BRAF mutations in PCP cases. However, no such targeted therapy is available yet for ACP. Here, we report novel mutations, which are not previously reported, in a case of an adult ACP using NGS analysis. Results:Patient DNA was sequenced using Ion PI v3 chip on Ion Proton. A total of 16 variants were identified in this tumor by NGS analysis, out of which four were missense mutations, seven were synonymous mutations, and five were intronic variants. In CTNNB1 gene a known missense mutation in c.101G>T; in TP53 a known missense mutation in c.215C>G; and two known missense variants in PIK3CA, viz., in c.1173A>G; in exon 7, and in c.3128T>C; in exon 21, were found, respectively. Seven synonymous mutations were detected in this tumor, viz., in IDH1 (rs11554137), in FGFR3 (rs7688609), in PDGFRA (rs1873778), in APC (COSM3760869), in EGFR (rs1050171), in MET (rs35775721), and in RET (rs1800861), respectively. Three known, intronic variants were found in genes, such as PIK3CA, KDR, and JAK3, respectively. Also, a 3'-UTR and a splice site acceptor site variant in CSF1R and FLT3 genes were found in this tumor. We have shown allele coverage, allele ratio, and p-value, for all these mutations. The p-values and Phred quality score were significantly high for these variants. Conclusion:As reported in previous studies, in ACP tumors we found a CTNNB1 mutation by NGS analysis. The PIK3CA variants we detected were not known previously in ACP tumors. Finding the PIK3CA mutations in the ACP tumors may help develop targeted therapy for a subset of craniopharyngiomas with PIK3CA activating mutations. Clinical trials are in progress with specific PIK3CA inhibitors in advanced stages of many cancers.
| S-EPMC7183340 | biostudies-literature
Project description:Aspergillary rhinopharyngitis in an equine patient
| PRJEB46193 | ENA
Project description:Childhood-onset craniopharyngiomas, though rare, are intracranial malformations that can cause obesity by disrupting the hypothalamus, a condition that often persists even after tumor resection. This severe obesity increases the risk of diabetes and fatty liver disease in childhood. Concurrently, panhypopituitarism, including growth hormone (GH) deficiency, may develop. Notably, some individuals with GH deficiency may exhibit a normal growth rate, making GH therapy unnecessary for growth purposes. However, in these cases, GH therapy may still be beneficial in preventing the progression of nonalcoholic fatty liver disease or nonalcoholic steatohepatitis. Although weight management is traditionally considered the gold standard for preventing liver cirrhosis, its effectiveness can be limited by hypothalamic dysfunction and the difficulty of achieving successful weight control. Our case study highlights a patient with normal growth despite GH deficiency, who did not receive GH replacement therapy and continued to struggle with hypothalamic obesity. Despite effective body weight control, the patient developed hepatopulmonary syndrome, indicating that relying solely on weight management may not be sufficient to prevent liver complications. This case underscores the importance of addressing GH deficiency even when growth is normal. Our findings suggest that GH replacement therapy could be beneficial for preventing liver cirrhosis in such cases.
| S-EPMC11557431 | biostudies-literature
Project description:BackgroundUterine cystic adenomyosis (CA) is a unique form of adenomyosis with a single or fused lumen of the cystic space exceeding a diameter of 1 cm that typically results in progressively worsening dysmenorrhea. In most cases, the prognosis and pregnancy outcomes of CA remained unclear, and therefore further studies are warranted.Case descriptionA 19‑year‑old woman was admitted for irregular vaginal bleeding that lasted for more than one month. Transabdominal B-ultrasound examination revealed a hypoechoic nodule measuring approximately 4.8 cm × 3.9 cm × 4.9 cm that is situated on the posterior wall of the uterus, in close proximity to the uterine fundus. The preoperative diagnosis was concluded as a pelvic mass with a cancer antigen 125 (CA125) level of 51.48 U/mL. She accepted a laparoscopic myomectomy and the CA lesion crossing the myometrium was removed. During operation, dense adhesions were found among a portion of the colorectum, omentum, uterus and bilateral adnexal areas. A cystic mass of approximately 7.0 cm × 5.0 cm × 4.0 cm was visible in the posterior wall of the uterus, and a sinus of approximately 1.0 cm in diameter was found to be connected to the uterine cavity at the lower posterior wall of the uterus, and the cystic wall was attached to the endometrium. Based on the classification criteria of MUSCLE (myometrial location, uterine site, structure, contents, level, endometrial or inner lining), the current case is classified as an A1-B1 mixed type. Following surgery, GnRH-a consolidation therapy was applied for 3 months. Such treatment relieved her symptoms and improved her quality of life while preserving her reproductive function.ConclusionsThis is the first reported case of an A1-B1 mixed type CA that was successfully treated by laparoscopic surgery supplemented with GnRH-a consolidation therapy.
| S-EPMC11760926 | biostudies-literature
Project description:Introductionand importance: Retrorectal cystic hamartoma (RCH) is a rare congenital lesion of the presacral space, which is part of the vestigial cystic tumors often benign and predominantly in women. Generally asymptomatic, the appearance of symptoms such as pain or neurological disorders should raise suspicion of degeneration.Case presentationWe report an unusual observation of a 62-year-old patient admitted for perineal pain evolving for 2 months associated with tenesma and chronic constipation. The digital rectal examination found a posterior bulge at 4 cm from the anal margin, without intraluminal lesion. Rectosigmoidoscopy had noted posterior extrinsic compression but no rectal tumor. Pelvic CT and MRI had shown a solidocystic formation of the retro-rectal and presacral spaces, related to an enteric cyst. The operation was performed by abdominal approach and the surgical exploration had found a bilobed cystic formation. The cystic mass was removed and the anatomopathological examination concluded that it was a cystic hamartoma with no sign of malignancy.Clinical discussionRetrorectal tumors develop in the space bounded anteriorly by the propria fascia of the rectum and posteriorly by the presacral fascia overlying the sacrum. Common in children and then often malignant, inversely, in adults, they are rare and most often benign tumors. They are generally asymptomatic with a predominance of females, unlike our observation where the patient was male with a symptomatology dominated by perineal pain and constipation. The discovery is incidental in the majority of cases, however, in some cases, these cysts may be revealed by complications. The lesion can be explored by transrectal or suprapubic ultrasound, MRI and CT scan. Rectoscopy and fistulography may complete the exploration in case of diagnostic doubt. The resection must be thorough and in monobloc because of the risk of recurrence and the approach depends on the location and the size of the lesion.ConclusionRCH is a rare benign lesion whose morphological characteristics seem quite stereotyped. A detailed postoperative anatomopathological examination allows the diagnosis to be made and, above all, to look for a site of malignant transformation. This is why a complete surgical removal is necessary to prevent recurrence.
| S-EPMC8141499 | biostudies-literature
Project description:We present a case of a purely infrasellar craniopharyngioma that initially presented as a sphenoid sinus mass. Craniopharyngiomas are usually located within the sella. Purely infrasellar craniopharyngiomas have only rarely been reported in the literature. A 25-year-old woman presented with 6-month history of progressive headaches. Initial neuroimaging revealed the presence of a sphenoid sinus mass. Initially, she underwent an endoscopic biopsy of the mass by our ENT service. Pathology was consistent with craniopharyngioma and she was referred to neurosurgery for further surgical management. She then underwent an endoscopic transsphenoidal approach for complete resection of the purely extracranial, infrasellar craniopharyngioma. The Rathke pouch arises from the roof of the primitive mouth and grows toward the brain at the fourth week of gestation. Normally, it loses its attachment with the stomadeum completely by the eighth week of gestation. The craniopharyngeal canal (CPC) extends from the floor of the sella to the vomer and may rarely give rise to ectopic craniopharyngiomas. This case shows that such ectopic tumors may arise anywhere along the CPC. Endoscopic endonasal approach provides an excellent route for the resection of these tumors.
| S-EPMC3134813 | biostudies-other
Project description:BACKGROUND:Craniopharyngiomas are defined by the WHO as "benign" tumours, but their location and surgical treatment may be associated with major complications, one being chemical meningitis. Although rare, especially in children, it should be taken into account when worrying symptoms appear after surgery. CASE PRESENTATION:The aim of this study is to present the case of chemical meningitis in a 7-year-old girl. She was admitted to the Department of Neurology with the following symptoms: headache, vomiting and balance disorders. Brain magnetic resonance imaging showed a tumour in the sellar and suprasellar region, which was diagnosed as a craniopharyngioma. Due to acute hydrocephalus the patient underwent emergency surgery. Conventional surgery was preceded by an endocrinological consultation to determine pituitary hormone levels. The first 6 days post-surgery, during which the patient started substitution therapy for pituitary insufficiency, were uneventful but on the seventh day she presented with seizures, fever, severe headache, weakness, irritability, stiffening of the neck and a gradual degradation of consciousness. This clinical presentation suggested meningitis, which was confirmed by examination of cerebrospinal fluid. CONCLUSIONS:The conventional and/or endoscopic resection of a craniopharyngioma poses a risk of postoperative complications in the form of chemical meningitis. Although this is a rare occurrence in children with craniopharyngioma, physicians should be aware of this complication and its clinical presentation as it may facilitate earlier diagnosis, appropriate treatment and a faster recovery of their patients.
| S-EPMC7023736 | biostudies-literature
Project description:Introductionand importance: Herein we present a rare case of multiple second to fifth carpometacarpal joint fracture-dislocations. It is important in such cases to be aware of a high-velocity impact etiology of the fractures, which will ensure proper imaging, diagnosis and treatment.Case presentationA 34-year-old male presented with severe pain in his left hand following a motorcycle accident. He was diagnosed as multiple second to fifth carpometacarpal joint fracture-dislocations. He was successfully treated with closed reduction with multiple Kirshner wires fixation under general anesthesia. A one-year follow up confirmed excellent clinical results.Clinical discussionThere are various surgical options including casting, closed reduction and percutaneous pinning (CRPP), and open reduction internal fixation, however, the optimal treatment is still controversial. The closed reduction is recommended in all CMC joint dislocations. Adding a K-wire fixation can create a secure fixation and achieve an excellent outcome.ConclusionMultiple carpometacarpal joint fracture-dislocations is a very rare injury. Careful clinical examination is important for an accurate diagnosis and plain radiographic studies are necessary. Standard fracture dislocation treatment can be used. Simple closed reduction with the K-wires fixation technique is easy to perform and in our case achieved successful treatment in terms of clinical and radiographic outcomes.
| S-EPMC9052289 | biostudies-literature