Radiological and Immunostaining Characteristics of H3.3 G34R-Mutant Glioma: A Report of 3 Cases and Review of the Literature

Introduction: H3.3 G34R/V mutation is predominantly identified in the supratentorial nonmidline tumors. However, this tumor is not yet categorized as an entity in 2016 WHO CNS classification. More information is necessary to further determine the characteristics of this tumor. Case Presentation: Three cases of adolescent hemispheric glioma were treated in our institution. All tumors showed the characteristics of huge tumor size with mild peritumoral edema on T2WI/FLAIR, hyperintense on DWI, and slight partial enhancement by gadolinium. The single-voxel proton MR spectroscopy revealed characteristics of high choline peak, marked decrease in N-acetyl aspartate peak, and small lactate peak. The histopathological diagnosis, based on 2007 WHO CNS classification, was high-grade glioma in 2 cases and a PNET. Immunostaining revealed that the tumor cells were positive against H3.3 G34R, H3K27me3, and p53 antibodies and negative against H3K27M, IDH1-R132H, ATRX, and Olig2 antibodies. Pyrosequencing analysis confirmed H3.3 G34R mutation, IDH-wildtype, and BRAF-wildtype. Conclusion: Radiological and immunostaining findings are characteristic in our 3 cases of H3.3 G34-mutant glioma. It is essential to consider H3.3 G34-mutant glioma as a differential diagnosis particularly in pediatric and adolescents and young adult hemispheric tumors.

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Long-term antikoagulation in a neonate with sinovenous thrombosis and stroke. Case presentation and review of the literature

Neuropediatrics ◽

10.1055/s-0029-1215863 ◽

2008 ◽

Vol 39 (05) ◽

Author(s):

M von Rhein ◽

P Habermehl ◽

K Schlee-Böckh ◽

M Knuf

Keyword(s):

Review Of The Literature ◽

Case Presentation ◽

Sinovenous Thrombosis ◽

Stroke Case

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Laparoscopic surgical management of a mature presacral teratoma: a case report

Surgical Case Reports ◽

10.1186/s40792-019-0702-x ◽

2019 ◽

Vol 5 (1) ◽

Cited By ~ 1

Author(s):

Liming Wang ◽

Yasumitsu Hirano ◽

Toshimasa Ishii ◽

Hiroka Kondo ◽

Kiyoka Hara ◽

...

Keyword(s):

Laparoscopic Resection ◽

Mature Teratoma ◽

Skin Incision ◽

Histopathological Diagnosis ◽

Tailgut Cyst ◽

Resonance Imaging ◽

Presumptive Diagnosis ◽

Case Presentation ◽

Contrast Enhanced ◽

Magnetic Resonance Imaging Mri

Abstract Background Mature presacral (retrorectal) teratoma is very rare. We report a case in which a mature retrorectal teratoma in an adult was successfully treated with laparoscopic surgery. Case presentation A 44-year-old woman was diagnosed with a presacral tumor during a physical examination. Endoscopic ultrasonography (EUS) revealed a multilocular cystic lesion; the lesion was on the left side of the posterior rectum and measured approximately 30 mm in diameter on both contrast-enhanced pelvic computed tomography (CT) and magnetic resonance imaging (MRI). The presumptive diagnosis was tailgut cyst. However, the histopathological diagnosis after laparoscopic resection was mature teratoma. It is still difficult to preoperatively diagnose mature retrorectal teratomas. Conclusions Laparoscopic resection of mature retrorectal teratomas is a feasible and promising method that is less invasive and can be adapted without extending the skin incision.

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Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

Molecular Cytogenetics ◽

10.1186/s13039-021-00546-1 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Qiao-Yan Shao ◽

Pei-Lin Wu ◽

Bi-Yun Lin ◽

Sen-Jing Chen ◽

Jian Liu ◽

...

Keyword(s):

Digeorge Syndrome ◽

Clinical Manifestations ◽

Large Deletion ◽

Terminal Deletion ◽

Facial Features ◽

Clinical Report ◽

Review Of The Literature ◽

Case Presentation ◽

Contiguous Gene ◽

Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

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Thrombosed Urethral Prolapse: a case series and review of the literature

Journal of Clinical Urology ◽

10.1177/20514158211032853 ◽

2021 ◽

pp. 205141582110328

Author(s):

Abisola Oliyide ◽

Ijeoma Chibuzo ◽

Magda Kujawa

Keyword(s):

Clinical Condition ◽

Correct Diagnosis ◽

Age Distribution ◽

Case Series ◽

Review Of The Literature ◽

Level Of Evidence ◽

Case Presentation ◽

Urethral Prolapse ◽

Evidence Level

Thrombosed urethral prolapse is a rare clinical condition. In this context, we describe our experience and compare our findings with the literature, following presentation of five consecutive cases over 2 years. This will hopefully improve awareness and appropriateness of specialty referrals as a correct diagnosis is rarely established prior to the patient being seen by a urologist. We also wish to highlight a case presentation of thrombosed urethral prolapse outside the bimodal age distribution which has been recorded in the literature. Level of Evidence: Level 4

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Intra-Abdominal Localisation of a Buschke-Lowenstein Tumour: Case Presentation and Review of the Literature

Case Reports in Transplantation ◽

10.1155/2013/187682 ◽

2013 ◽

Vol 2013 ◽

pp. 1-6 ◽

Cited By ~ 2

Author(s):

N. E. Wester ◽

E. M. Hutten ◽

C. Krikke ◽

Robert A. Pol

Keyword(s):

Interferon Therapy ◽

Verrucous Carcinoma ◽

Treatment Options ◽

Condyloma Acuminata ◽

Review Of The Literature ◽

Case Presentation ◽

Advantages And Disadvantages ◽

Literature Overview ◽

Mucosal Surfaces ◽

Tumour Reduction

Giant condyloma acuminatum or Buschke-Lowenstein tumour is a very rare disease which usually is located in the genital, anorectal, and perianal regions. It is regarded as a type of verrucous carcinoma occurring on anogenital mucosal surfaces where it is locally invasive but displays a benign cytology. We describe a case of a 24-year-old woman with persisting condyloma acuminata progressing to a large intra-abdominal Buschke-Lowenstein tumour. To our knowledge such an advanced stage has only been reported once before. The severity and extent of the tumour both determine the treatment and patient outcome. Treatment was impeded by cachexia, an immunosuppressive state after kidney transplantation and difficulties in establishing a reliable diagnose. Interferon treatment was started which initially led to tumour reduction but was complicated by an interferon-induced pancreatitis, pneumonia, and fasciitis necroticans resulting in death. We present a literature overview on the treatment options for a Buschke-Lowenstein tumour, with emphasis on interferon therapy, with all the advantages and disadvantages.

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Extensive Extraneural Metastases of Cerebral Glioblastoma in a Pediatric Patient: An Extreme Case Report and Comprehensive Review of the Literature

Pediatric Neurosurgery ◽

10.1159/000515348 ◽

2021 ◽

pp. 1-6

Author(s):

Kadir Oktay ◽

Dogu Cihan Yildirim ◽

Arbil Acikalin ◽

Kerem Mazhar Ozsoy ◽

Nuri Eralp Cetinalp ◽

...

Keyword(s):

Case Report ◽

Pediatric Patients ◽

Extreme Case ◽

Rare Condition ◽

Review Of The Literature ◽

Pertinent Literature ◽

Cervical Lymph Nodes ◽

Case Presentation ◽

Comprehensive Review ◽

Extraneural Metastases

Introduction: Extraneural metastases of glioblastoma are very rare clinical entities, especially in pediatric patients. Because of their rarity, they can be confused with other pathological processes. Case Presentation: We report a case of 16-year-old boy with extensive extraneural metastases of glioblastoma. Lung, liver, cervical lymph nodes, skin, and bone metastases were detected in the patient. Conclusion: We describe the presentation, evaluation, and diagnosis of this rare condition with regard to pertinent literature.

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Radiation Recall Dermatitis in Patients Treated with Sorafenib

Case Reports in Oncological Medicine ◽

10.1155/2018/2171062 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3 ◽

Cited By ~ 2

Author(s):

Keyur Mehta ◽

Andreas Kaubisch ◽

Justin Tang ◽

Aneesh Pirlamarla ◽

Shalom Kalnicki

Keyword(s):

Chemotherapeutic Agent ◽

Review Of The Literature ◽

Radiation Recall ◽

Case Presentation ◽

Palliative Radiation Therapy ◽

Metastatic Hepatocellular Carcinoma ◽

Radiation Recall Dermatitis ◽

Recall Dermatitis ◽

The Right ◽

Carcinoma Lesion

Introduction. Radiation recall dermatitis (RRD) is a phenomenon that occurs in previously irradiated areas shortly after administration of a chemotherapeutic agent. As the use of sorafenib expands, the incidence of radiation recall dermatitis induced by sorafenib will likely increase. Here, we report on a patient who developed RRD and describe his clinical characteristics along with a review of the literature. Case Presentation. Our patient was treated with palliative radiation therapy (RT) to a painful metastatic hepatocellular carcinoma lesion in the right forearm. He completed his radiation course with grade 1 dermatitis, which had resolved by the time he was started on sorafenib 400 mg twice daily 7 days afterwards. On the 21st day after RT, he presented with desquamation and erythema in the previously irradiated area of the right forearm, consistent with RRD. The sorafenib was discontinued and his symptoms subsequently resolved with conservative topical management. Conclusions. Although the pathophysiologic mechanism of sorafenib-related radiation recall dermatitis remains to be investigated, practitioners should be aware of its presence and management in order to improve clinical outcomes.

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Postvaricella Acute Transverse Myelitis: A Case Presentation and Review of the Literature

PEDIATRICS ◽

10.1542/peds.62.2.202 ◽

1978 ◽

Vol 62 (2) ◽

pp. 202-204

Author(s):

John T. McCarthy ◽

Jules Amer

Keyword(s):

Transverse Myelitis ◽

Sensory Loss ◽

Review Of The Literature ◽

Case Presentation ◽

Mortality And Morbidity ◽

Acute Transverse Myelitis ◽

Significant Mortality

Although the complications and sequelae of varicella are rare, they can cause significant mortality and morbidity in both the normal and compromised patient. Eight cases of "pure" acute transverse myelitis (ATM) following varicella have previously been reported in the literature. We report the ninth case of postvaricella ATM in a 9-year-old girl. Her course was characterized by paraplegia, sensory Loss, hvperesthesia, and incontinence of urine and feces. All patients, except ours, recovered fully from ATM.

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