Radiologic findings and the molecular expression profile of diffuse midline glioma H3 K27M mutant

Background Diffuse midline glioma H3 K27M-mutant (DMG) are reported to show heterogeneous radiologic imaging features in children. We hypothesized that other genetic mutations may contribute to this heterogeneity. Purpose To describe the magnetic resonance imaging (MRI) findings of DMG in adult patients and to correlate the imaging findings with the molecular expression profile. Material and Methods Eighteen patients with pathologically proven DMG were enrolled. On preoperative MRI, the following were evaluated: location; size of the lesion; ratio of non-enhancing (NE) and contrast-enhancing (CE) area; presence of cortical invasion and necrotic component; maximum relative cerebral blood volume ratio (rCBV ratio) of NE and CE portions; and minimum apparent diffusion coefficient (ADC) of NE and CE portions, among others. Molecular profiles including ATRX expression and p53 mutation were reviewed to find correlation with imaging features. Results Thalamus was the most commonly involved location, followed by pons and tectum. Five patients showed loss of normal ATRX expression. p53 mutation was positive in 12 patients. 40% of normal ATRX expression patients had cortical involvement and 20% had leptomeningeal seeding; none of the patients with ATRX loss had cortical involvement or leptomeningeal seeding. Patients with normal ATRX expression showed significantly higher rCBV ratio and lower ADC value in the NE area than patients with ATRX loss ( P=0.04, 0.016). p53 mutation status did not correlate with any imaging finding. Conclusion Cortical invasion, leptomeningeal tumor spread, lower ADC value and higher rCBV ratio in NE areas of DMG may be related to normal expression of ATRX.

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Pediatric spinal cord diffuse midline glioma, H3 K27-altered with intracranial and spinal leptomeningeal spread: A case report

The Neuroradiology Journal ◽

10.1177/19714009211067402 ◽

2022 ◽

pp. 197140092110674

Author(s):

Bettina L Serrallach ◽

Brandon H Tran ◽

David F Bauer ◽

Carrie A Mohila ◽

Adekunle M Adesina ◽

...

Keyword(s):

Spinal Cord ◽

Case Report ◽

Female Adolescent ◽

Rapid Progression ◽

Imaging Features ◽

High Grade ◽

Who Grade ◽

Leptomeningeal Seeding ◽

High Grade Gliomas ◽

Diffuse Midline Glioma

Primary spinal cord high-grade gliomas, including those histologically identified as glioblastoma (GBM), are a rare entity in the pediatric population but should be considered in the differential diagnosis of intramedullary lesions. Pediatric spinal cord high-grade gliomas have an aggressive course with poor prognosis. The aim of this case report is to present a 15-year-old female adolescent with histopathologically confirmed spinal cord GBM with H3F3A K27 M mutation consistent with a diffuse midline glioma (DMG), H3 K27-altered, CNS WHO grade 4 with leptomeningeal seeding on initial presentation. As imaging features of H3 K27-altered DMGs are non-specific and may mimic more frequently encountered neoplastic diseases as well as demyelinating disorders, severe neurological deficits at presentation with short duration, rapid progression, and early leptomeningeal seeding should however raise the suspicion for a pediatric-type diffuse high-grade glioma like DMG, H3 K27-altered.

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P06.01 Pediatric non-pontine diffuse midline glioma H3K27M mutant: a monoinstitutional experience

Neuro-Oncology ◽

10.1093/neuonc/noab180.079 ◽

2021 ◽

Vol 23 (Supplement_2) ◽

pp. ii24-ii24

Author(s):

E Schiavello ◽

V Biassoni ◽

L De Cecco ◽

E Pecori ◽

S Filippo ◽

...

Keyword(s):

Liquid Biopsy ◽

P53 Mutation ◽

New Drugs ◽

Molecular Profile ◽

Histopathological Diagnosis ◽

Diffuse Astrocytoma ◽

Number Of Patients ◽

Pathological Evaluation ◽

Diffuse Midline Glioma ◽

Astrocytoma Grade

Abstract BACKGROUND The new entity “diffuse-midline-glioma H3K27M-mutant”(DMG) was defined in the 2016 WHO classification. This tumor subtype, regardless of histological features, is associated with an aggressive clinical behavior and poor prognosis, sharing the same outcome as DIPG. MATERIAL AND METHODS We report our experience from 2016 to 2018 in treating patients with radiotherapy and concomitant Nimotuzumab/Vinorelbine, as already published for DIPG’s patients (DOI10.1007/s11060-014-1428-z). All patients’ parents provided written informed consent for treatment. RESULTS Patients were 9: 7/9 females, median age at diagnosis 13 years (range 1–26); 8 with localized disease, 1 with spinal fluid (CSF) dissemination. Five patients had thalamic disease (1 bithalamic), 2 ponto-cerebellar (one with 2 lesions), 1 pineal gland and one with disseminated CSF disease at diagnosis. 3/9 were biopsed in thalamus, the others had partial resection. Central neuropathological review with confirmed histopathological diagnosis of DMG mutated was necessary for inclusion. At the first pathological evaluation tumors had been classified according to the fourth edition of the WHO 2007 as glioblastoma (n=4), anaplastic astrocytoma grade III (n=1), diffuse astrocytoma grade II (n=1), and 1 glial tumor with oligodendroglial features; 2 patients already had DMG at the first pathological evaluation. Immunohistochemical analysis revealed p53 mutation in 3 patients. All 9 patients were evaluated on serial plasma samples with NGS targeted panel (Pan-Cancer) and 6/9 presented p53 mutation in at least one of the samples. 8/9 expressed MAP2K1 gain of function at liquid biopsy. The small number of patients did not allow correlations with the prognosis. Two patients completed the scheduled 2 years of treatment: one had a local relapse at 37 months after diagnosis, the other is alive without evidence of progression at 30 months. With a median follow up of 14.4 months, PFS and OS were 33% and 77% at 1 year; OS was 22% at 2 years, with 2 patients long survivors at 36 and 40 months after diagnosis. CONCLUSION The molecular and phenotypic pattern of DMG allows to include patients in clinical trials/registry shared with patients suffering from DIPG. Our knowledge is still limited about this entity; new insights into molecular profile should help us to study new drugs directed against the effects of the H3K27M mutations and to define new diagnostic/prognostic approach as liquid biopsy able to correlate treatments and prognosis

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Molecular Expression Profile Reveals Potential Biomarkers and Therapeutic Targets in Canine Endometrial Lesions

PLoS ONE ◽

10.1371/journal.pone.0133894 ◽

2015 ◽

Vol 10 (7) ◽

pp. e0133894 ◽

Cited By ~ 10

Author(s):

Fabiana Azevedo Voorwald ◽

Fabio Albuquerque Marchi ◽

Rolando Andre Rios Villacis ◽

Carlos Eduardo Fonseca Alves ◽

Gilson Hélio Toniollo ◽

...

Keyword(s):

Expression Profile ◽

Therapeutic Targets ◽

Molecular Expression ◽

Potential Biomarkers

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Plasmacytoid urothelial carcinoma (PUC): Imaging features with histopathological correlation

Canadian Urological Association Journal ◽

10.5489/cuaj.3789 ◽

2017 ◽

Vol 11 (1-2) ◽

pp. 50 ◽

Cited By ~ 6

Author(s):

Andrew D. Chung ◽

Nicola Schieda ◽

Trevor A. Flood ◽

Ilias Cagiannos ◽

Kien T. Mai ◽

...

Keyword(s):

Urothelial Carcinoma ◽

Imaging Finding ◽

Primary Tumour ◽

Locally Advanced ◽

Distant Metastases ◽

Residual Tumour ◽

Imaging Features ◽

Curative Surgery ◽

Histopathological Correlation ◽

Peritoneal Spread

Introduction: Plasmacytoid urothelial carcinoma (PUC) is a highgrade variant of conventional urothelial cell carcinoma. This study is the first to describe the imaging findings of PUC, which are previously unreported, using clinical and histopathological correlation. Methods: With internal review board approval, we identified 22 consecutive patients with PUC from 2007‒2014. Clinical parameters, including age, gender, therapy, surgical margins, and longterm outcome, were recorded. Baseline imaging was reviewed by an abdominal radiologist who evaluated for tumour detectability/ location/morphology, local staging, and presence/location of metastases. Pelvic peritoneal spread of tumour (defined as >5mm thick soft tissue spreading along fascial planes) was also evaluated. Followup imaging was reviewed for presence of local recurrence or metastases.Results: Median age at presentation was 74 years (range 51‒86), with only three female patients. Imaging features of the primary tumour in this study were not unique for PUC. Muscle-invasive disease was present on pathology in 19/22 (86%) of tumours, with distant metastases in 2/22 (9%) at baseline imaging. Pelvic peritoneal spread of tumour was radiologically present in 4/20 (20%) at baseline. During followup, recurrent/residual tumour was documented in 16/22 (73%) patients and 7/16 (44%) patients eventually developed distant metastases. Median time to disease recurrence in patients who underwent curative surgery was three months (range 0‒19).Conclusions: PUC is an aggressive variant of urothelial carcinoma with poor prognosis. Pelvic peritoneal spread of tumour as thick sheets extending along fascial planes may represent a characteristic imaging finding of locally advanced PUC.

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Erratum to: Immunohistochemical molecular expression profile of metastatic brain tumor for potent personalized medicine

Brain Tumor Pathology ◽

10.1007/s10014-013-0143-3 ◽

2013 ◽

Vol 30 (4) ◽

pp. 266-267

Author(s):

Yasutaka Kato ◽

Hiroshi Nishihara ◽

Sayaka Yuzawa ◽

Hiromi Mohri ◽

Hiromi Kanno ◽

...

Keyword(s):

Brain Tumor ◽

Personalized Medicine ◽

Expression Profile ◽

Metastatic Brain Tumor ◽

Molecular Expression

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Extensive hyperdense zone in the mandible. A case report.

International Journal of Medical and Surgical Sciences ◽

10.32457/ijmss.2018.029 ◽

2019 ◽

Vol 5 (3) ◽

pp. 115-119

Author(s):

Magdalena Molina ◽

Valeria Romero ◽

Darío Domínguez ◽

José Aguilar ◽

Arturo Fuentes

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Incidence Rate ◽

Bone Growth ◽

Imaging Finding ◽

Anatomical Variations ◽

Long Bones ◽

Imaging Features ◽

Generic Term ◽

Molar Region

Hyperdense zones are considered a generic term to define an area of increased density regardless of its cause. Idiopathic hyperdense zones are referred in literature as enostosis, focal osteosclerosis, periapical osteopetrosis or bone scar and are found as imaging finding during a rutine radiograph. They have greater predilection for long bones, but can also appear in the maxillary bones in certain occasions, often located in the jaw, especially in the molar region, with an informed incidence rate that varies from 2,3 to 9,7% depending on the population in which the study is being applied. In 40% of the cases, in spite of being of idiopathic origin, they seem to be associated with patients with occlusal trauma or can be a result of a predominant development of isolated bone during bone growth. The case of a 36-year-old female patient is described, who presents hyperdensity that differs in form, location and imaging features from the commonly documented in this type of anatomical variations. It was diagnosed as idiopathic osteosclerosis, periodic imaging controls were established. The purpose of this case report is to emphasize the importance of performing an appropriate differential diagnosis among hyperdense lesions at maxillofacial level.

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Clinical and imaging features of myeloid sarcoma: a German multicenter study

BMC Cancer ◽

10.1186/s12885-019-6357-y ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 1

Author(s):

Hans-Jonas Meyer ◽

Wolfram Pönisch ◽

Stefan Andreas Schmidt ◽

Susanne Wienbeck ◽

Friederike Braulke ◽

...

Keyword(s):

Clinical Symptoms ◽

Initial Diagnosis ◽

Myeloid Sarcoma ◽

Imaging Features ◽

University Hospitals ◽

Hematological Disease ◽

Cutaneous Lesions ◽

Adc Value ◽

Patient Sample ◽

Large Patient

Abstract Background Myeloid sarcoma (MS), also known as chloroma, is an extramedullary manifestation of malignant primitive myeloid cells. Previously, only small studies investigated clinical and imaging features of MS. The purpose of this study was to elucidate clinical and imaging features of MS based upon a multicenter patient sample. Methods Patient records of radiological databases of 4 German university hospitals were retrospectively screened for MS in the time period 01/2001 and 06/2019. Overall, 151 cases/76 females (50.3%) with a mean age of 55.5 ± 15.1 years and 183 histopathological confirmation or clinically suspicious lesions of MS were included into this study. The underlying hematological disease, localizations, and clinical symptoms as well as imaging features on CT and MRI were investigated. Results In 15 patients (9.9% of all 151 cases) the manifestation of MS preceded the systemic hematological disease. In 43 cases (28.4%), first presentation of MS occurred simultaneously with the initial diagnosis of leukemia, and 92 (60.9%) patients presented MS after the initial diagnosis. In 37 patients (24.5%), the diagnosis was made incidentally by imaging. Clinically, cutaneous lesions were detected in 35 of 151 cases (23.2%). Other leading symptoms were pain (n = 28/151, 18.5%), neurological deficit (n = 27/151, 17.9%), swelling (n = 14/151, 9.3%) and dysfunction of the affected organ (n = 10/151, 6.0%). Most commonly, skin was affected (n = 30/151, 16.6%), followed by bone (n = 29/151, 16.0%) and lymphatic tissue (n = 21/151, 11.4%). Other localizations were rare. On CT, most lesions were homogenous. On T2-weighted imaging, most of the lesions were hyperintense. On T1-weighted images, MS was hypointense in n = 22/54 (40.7%) and isointense in n = 30/54 (55.6%). A diffusion restriction was identified in most cases with a mean ADC value of 0.76 ± 0.19 × 10− 3 mm2/s. Conclusions The present study shows clinical and imaging features of MS based upon a large patient sample in a multicenter design. MS occurs in most cases meta-chronous to the hematological disease and most commonly affects the cutis. One fourth of cases were identified incidentally on imaging, which needs awareness of the radiologists for possible diagnosis of MS.

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Differential molecular expression profile according to glioblastoma (GB) location.

Journal of Clinical Oncology ◽

10.1200/jco.2015.33.15_suppl.2030 ◽

2015 ◽

Vol 33 (15_suppl) ◽

pp. 2030-2030

Author(s):

Emilie Denicolai ◽

Emeline Tabouret ◽

Carole Colin ◽

Philippe Metellus ◽

Isabelle Nanni ◽

...

Keyword(s):

Expression Profile ◽

Molecular Expression

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Imaging diagnosis of basal ganglia germ cell tumors: subtype features subtype imaging features of GCTs

British Journal of Radiology ◽

10.1259/bjr.20201453 ◽

2021 ◽

pp. 20201453

Author(s):

Wei Li ◽

Xin Kong ◽

Jun Ma

Keyword(s):

Basal Ganglia ◽

Germ Cell ◽

Wallerian Degeneration ◽

Germ Cell Tumors ◽

Imaging Features ◽

Adc Value ◽

Apparent Diffusion Coefficients ◽

Significant Difference ◽

Solid Part ◽

Ct Density

Objectives: To evaluate the subtype imaging features of basal ganglia germ cell tumors (GCTs). Methods: Clinical and imaging data of 33 basal ganglia GCTs were retrospectively analyzed, including 17 germinomas and 16 mixed germ cell tumors (MGCTs). Results: The cyst/mass ratio of germinomas (0.53 ± 0.32) was higher than that of MGCTs (0.28 ± 0.19, p = 0.030). CT density of the solid part of germinomas (41.47 ± 5.22 Hu) was significantly higher than that of MGCTs (33.64 ± 3.75 Hu, p < 0.001), while apparent diffusion coefficients (ADC, ×10-3 mm2/s) value of the solid part was significantly lower in geminomas (0.86 ± 0.27 ×10-3 mm2/s) than in MGCTs (1.42 ± 0.39 ×10-3 mm2/s, p < 0.001). MGCTs were more common with intratumoral hemorrhage (68.75% vs 11.76%, p = 0.01), T1 hyperintense foci (68.75% vs 5.88%, p < 0.001) and calcification (64.29% vs 20.00%, p = 0.025) than germinomas. There was no significant difference in internal capsule involvement between the two subtypes (p = 0.303), but Wallerian degeneration was more common in germinomas than in MGCTs (70.59% vs 25.00%, p = 0.015). Conclusion: The subtypes of GCT have different imaging features. Tumoral cystic-solidity, heterogeneity, ADC value, CT density, and Wallerian degeneration are helpful to differentiate germinomas and MGCTs in basal ganglia. Advances in knowledge: The subtypes of GCT have different histological characteristics, leading to various imaging findings. The imaging features of GCT subtypes in basal ganglia may aid clinical diagnosis and treatment.

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