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Journal of Pediatric Hematology/oncology Jul 2024
Topics: Humans; Male; Female; Orbital Neoplasms; Child
PubMed: 38912834
DOI: 10.1097/MPH.0000000000002880 -
World Journal of Surgical Oncology Jun 2024Sinonasal malignant tumors are a group of uncommon malignancies that account for less than 1% of all tumors. These tumors often involve the maxillary sinus and nasal...
Sinonasal malignant tumors are a group of uncommon malignancies that account for less than 1% of all tumors. These tumors often involve the maxillary sinus and nasal cavity, with less cumulative incidence in the ethmoidal sinus, sphenoidal sinus, and frontal sinus. The lack of consensus on the management of sinonasal malignancies is due to their rarity, diagnostic challenges, and the heterogeneity of treatments. In this paper, we present a case of endoscopic-assisted medial canthus incision combined with radiotherapy in the treatment of sinonasal malignant tumors, with the aim of providing valuable insights to clinicians on the management of these tumors.
Topics: Humans; Esthesioneuroblastoma, Olfactory; Endoscopy; Nose Neoplasms; Nasal Cavity; Prognosis; Male; Middle Aged; Female; Paranasal Sinus Neoplasms
PubMed: 38909260
DOI: 10.1186/s12957-024-03448-9 -
BMC Oral Health Jun 2024Neurofibroma is a common benign tumor of neuronal origin that can occur as a solitary tumor or as a component of the generalized syndrome of neurofibromatosis....
BACKGROUND
Neurofibroma is a common benign tumor of neuronal origin that can occur as a solitary tumor or as a component of the generalized syndrome of neurofibromatosis. Neurofibromas are primarily located in the subcutaneous soft tissues and commonly involve extra-oral sites. Solitary intraosseous neurofibromas of the oral cavity are infrequent, with occurrences in the maxilla being exceedingly rare.
CASE PRESENTATION
A 22-year-old male patient presented with an asymptomatic mass in the maxilla. Cone-beam computed tomography revealed a round, well-outlined, radiolucent lesion with expansive growth. The neoplasm with the complete capsule was completely removed and confirmed as a neurofibroma based on histopathological and immunohistochemical findings. The reported cases of solitary intraosseous neurofibromas located in the maxilla published in the English literature were compiled to assist in the diagnosis of solitary intraosseous neurofibromas of the maxilla. Nine months after the surgery, there were no signs of tumor recurrence or malignant transformation.
CONCLUSIONS
This report emphasizes that rare locations of neurofibromas, such as solitary intraosseous neurofibromas in the maxilla, typically demonstrate nonspecific clinical and radiological features. Clinicians should consider solitary intraosseous neurofibromas as possible differential diagnoses and recognize the histopathological and immunohistochemical features to confirm the correct diagnosis. A longer follow-up period is required because of the potential for local recurrence and malignant transformation of these tumors.
Topics: Humans; Male; Neurofibroma; Maxillary Neoplasms; Young Adult; Cone-Beam Computed Tomography; Diagnosis, Differential
PubMed: 38909194
DOI: 10.1186/s12903-024-04470-9 -
European Journal of Dermatology : EJD Apr 2024
Topics: Humans; Male; Female; Nose; Nose Neoplasms
PubMed: 38907574
DOI: 10.1684/ejd.2024.4672 -
The American Journal of Case Reports Jun 2024BACKGROUND Fetus in fetu (FIF), or parasitic fetus, is a rare malformation that typically occurs in the retroperitoneum, but can be found in other unusual locations,...
BACKGROUND Fetus in fetu (FIF), or parasitic fetus, is a rare malformation that typically occurs in the retroperitoneum, but can be found in other unusual locations, such as the skull, sacrum, and mouth. The presence of a spine is necessary for diagnosis. CASE REPORT Intracranial FIFs were retrospectively studied. Abnormalities were detected in the fetal head during a 33-week prenatal examination; however, MRI could not provide more information, due to space occupation. A baby girl was born via cesarean delivery at 37 weeks, with a large head circumference. She had delays in motor skills and speech development, only able to say "mom". There was a large mass in the cerebral hemisphere, with a 13-cm maximum diameter, smooth boundary, and internal bone structure visible on head CT scan. Both ventricles and third ventricle had hydrops, with a fetal shape at a continuous level, along with apparent compression near the cerebral parenchyma. After performing preoperative examinations, laboratory tests, and surgical planning, craniotomy was performed on the FIF, under general anesthesia. Following complete mass resection, mouth, eye, arm, and hand shapes could be observed. The patient was unconscious after surgery and had seizures that were difficult to control. She died 12 days after surgery. Teratomas can be distinguished based on anatomy and imaging. Surgical resection is the only curative treatment and its prognosis is poor. CONCLUSIONS Intracranial FIF cases are rare and require early diagnosis and surgical treatment. Differentiating between FIF and teratoma is crucial, and monitoring alpha-fetoprotein levels after surgery can help detect recurrence.
Topics: Humans; Female; Infant, Newborn; Prognosis; Teratoma; Pregnancy; Fetus; Brain Neoplasms; Fatal Outcome; Craniotomy; Magnetic Resonance Imaging; Adult; Tomography, X-Ray Computed
PubMed: 38902917
DOI: 10.12659/AJCR.944371 -
Cancers Jun 2024Although primary studies have reported the safety and efficacy of LITT as a primary treatment in glioma, they are limited by sample sizes and institutional variation in... (Review)
Review
Although primary studies have reported the safety and efficacy of LITT as a primary treatment in glioma, they are limited by sample sizes and institutional variation in stereotactic parameters such as temperature and laser power. The current literature has yet to provide pooled statistics on outcomes solely for primary brain tumors according to the 2021 WHO Classification of Tumors of the Central Nervous System (WHO CNS5). In the present study, we identify recent articles on primary CNS neoplasms treated with LITT without prior intervention, focusing on relationships with molecular profile, PFS, and OS. This meta-analysis includes the extraction of data from primary sources across four databases using the Covidence systematic review manager. The pooled data suggest LITT may be a safe primary management option with tumor ablation rates of 94.8% and 84.6% in IDH-wildtype glioblastoma multiforme (GBM) and IDH-mutant astrocytoma, respectively. For IDH-wildtype GBM, the pooled PFS and OS were 5.0 and 9.0 months, respectively. Similar to rates reported in the prior literature, the neurologic and non-neurologic complication rates for IDH-wildtype GBM were 10.3% and 4.8%, respectively. The neurologic and non-neurologic complication rates were somewhat higher in the IDH-mutant astrocytoma cohort at 33% and 8.3%, likely due to a smaller cohort size.
PubMed: 38893250
DOI: 10.3390/cancers16112131 -
International Journal of Molecular... May 2024Chordomas, arising from notochord remnants, are rare neoplasms with aggressive growth patterns despite their histologically low-grade nature. This review explores their... (Review)
Review
Chordomas, arising from notochord remnants, are rare neoplasms with aggressive growth patterns despite their histologically low-grade nature. This review explores their embryological origins, molecular markers like brachyury, and genetic alterations driving pathogenesis. Diagnosis relies on advanced imaging and biopsy confirmation due to overlapping features with chondrosarcoma. The WHO classification distinguishes conventional, dedifferentiated, and poorly differentiated chordomas, each with distinct prognostic implications. Recent genomic analyses uncovered recurrent mutations in PI3K signaling pathways and chromatin remodeling genes, informing prognostic models. Surgery remains the cornerstone of treatment, though adjuvant radiation complements surgical resection. Although chordomas are generally considered refractory to medical therapy, emerging targeted molecular strategies show potential promise in ongoing trials. This review aims to provide a concise yet comprehensive overview of chordomas, guiding clinicians in diagnosis, treatment, and prognostication for improved patient outcomes.
Topics: Humans; Chordoma; Prognosis; Biomarkers, Tumor; Mutation; T-Box Domain Proteins; Disease Management; Fetal Proteins
PubMed: 38892063
DOI: 10.3390/ijms25115877 -
BMC Oral Health Jun 2024Odontogenic carcinoma with dentinoid (OCD) is a rare and controversial entity, which has not yet been included in the current World Health Organization classification of... (Review)
Review
BACKGROUND
Odontogenic carcinoma with dentinoid (OCD) is a rare and controversial entity, which has not yet been included in the current World Health Organization classification of odontogenic lesions. Owing to the small number of reported cases, the clinicopathological characteristics, biological behavior, prognosis, and appropriate treatment strategies for OCD remain to be defined. Herein, we present an additional case of OCD with a focus on the differential diagnosis and review of the pertinent literature, in order to enable better recognition by oral clinicians and pathologists and further characterization of this entity.
CASE PRESENTATION
This paper reports a case of OCD in the posterior mandible of a 22-year-old female. Radiography showed a well-defined unilocular radiolucency with radiopaque materials. The intraoperative frozen section pathology gave a non-committed diagnosis of odontogenic neoplasm with uncertain malignant potential. Then a partial mandibulectomy with free iliac crest bone graft and titanium implants was performed. Microscopically, the tumor consisted of sheets, islands, and cords of round to polygonal epithelial cells associated with an abundant dentinoid matrix. Immunohistochemically, the tumor cells were diffusely positive for CK19, p63, and β-catenin (cytoplasmic and nuclear). No rearrangement of the EWSR1 gene was detected. The final diagnosis was OCD. There has been no evidence of recurrence or metastasis for 58 months after surgery. We also provide a literature review of OCD cases, including one case previously reported as ghost cell odontogenic carcinoma from our hospital.
CONCLUSIONS
OCD is a locally aggressive low grade malignancy without apparent metastatic potential. Wide surgical excision with clear margins and long-term period follow-up to identify any possible recurrence or metastases are recommended. Histopathological examination is essential to conclude the diagnosis. Special care must be taken to distinguish OCD from ghost cell odontogenic carcinoma and clear cell odontogenic carcinoma, as misdiagnosis might lead to unnecessary overtreatment. Study of additional cases is required to further characterize the clinicopathological features and clarify the nosologic status and biological behavior of this tumor.
Topics: Female; Humans; Young Adult; beta Catenin; Diagnosis, Differential; Keratin-19; Mandibular Neoplasms; Odontogenic Tumors; Transcription Factors; Tumor Suppressor Proteins
PubMed: 38890602
DOI: 10.1186/s12903-024-04471-8 -
Head and Neck Pathology Jun 2024Craniofacial osteosarcomas (CFOS) are uncommon malignant neoplasms of the head and neck with different clinical presentation, biological behavior and prognosis from...
BACKGROUND
Craniofacial osteosarcomas (CFOS) are uncommon malignant neoplasms of the head and neck with different clinical presentation, biological behavior and prognosis from conventional osteosarcomas of long bones. Very limited genetic data have been published on CFOS.
METHODS
In the current study, we performed comprehensive genomic studies in 15 cases of high-grade CFOS by SNP array and targeted next generation sequencing.
RESULT
Our study shows high-grade CFOS demonstrate highly complex and heterogenous genomic alterations and harbor frequently mutated tumor suppressor genes TP53, CDKN2A/B, and PTEN, similar to conventional osteosarcomas. Potentially actionable gene amplifications involving CCNE1, AKT2, MET, NTRK1, PDGFRA, KDR, KIT, MAP3K14, FGFR1, and AURKA were seen in 43% of cases. GNAS hotspot activating mutations were also identified in a subset of CFOS cases, with one case representing malignant transformation from fibrous dysplasia, suggesting a role for GNAS mutation in the development of CFOS.
CONCLUSION
High-grade CFOS demonstrate highly complex and heterogenous genomic alterations, with amplification involving receptor tyrosine kinase genes, and frequent mutations involving tumor suppressor genes.
Topics: Humans; High-Throughput Nucleotide Sequencing; Female; Male; DNA Copy Number Variations; Adult; Osteosarcoma; Middle Aged; Adolescent; Mutation; Child; Young Adult; Aged; Bone Neoplasms; Skull Neoplasms; DNA Mutational Analysis
PubMed: 38884816
DOI: 10.1007/s12105-024-01634-5 -
Indian Journal of Otolaryngology and... Jun 2024Giant cell tumor (GCT) of bone is a rare, benign, osteolytic neoplasm that most commonly occurs in early adulthood and often involves the long bones of the body....
Giant cell tumor (GCT) of bone is a rare, benign, osteolytic neoplasm that most commonly occurs in early adulthood and often involves the long bones of the body. Although GCT largely affects the epiphyses of long bones, several reports of GCT involvement of the cranial and facial bones exist in the literature. In addition to reviewing other reported cases of GCT of the lateral skull base in the literature, the authors report here on the clinical presentation, radiographic findings, and management of a patient found to have a GCT of the squamous part of temporal bone invading the middle ear and infratemporal fossae, which was treated by en bloc resection of the lateral skull base.
PubMed: 38883509
DOI: 10.1007/s12070-024-04550-w