scholarly journals Conflicting pathology reports: a diagnostic dilemma

2015 ◽  
Vol 122 (2) ◽  
pp. 276-279 ◽  
Author(s):  
Tal Shahar ◽  
Uri Rozovski ◽  
Yuval Shapira ◽  
Erez Nossek ◽  
Bracha Zelikovich ◽  
...  
Keyword(s):  
Brain Lesion ◽  
Brain Biopsy ◽  
Collision Tumor ◽  
Diagnostic Dilemma ◽  
Who Grade ◽  
Str Analysis ◽  
Heavy Smoking ◽  
Allele Imbalance ◽  
History Of ◽  
Pathology Reports

The differential diagnosis of a brain lesion with two discordant pathology reports includes the presence of collision tumor, metaplastic changes, and labeling errors that occurred during the processing of the specimen. The authors present a case in which the first brain biopsy from a 47-year-old patient with a history of heavy smoking was compatible with metastatic small cell carcinoma, and the second biopsy taken during decompression craniotomy 3 weeks later was compatible with WHO Grade IV glioblastoma. Using short tandem repeat (STR) analysis of the two specimens and nontumor-derived patient DNA, the authors found that the two specimens did not belong to the same individual. The authors conclude that allele imbalance or loss of heterozygosity detected by STR analysis is a reliable and valuable diagnostic tool for clarifying discrepancies in discordant pathology reports.

scholarly journals Mosaic Pattern of H3 K27M-Mutant Protein Expression in a Diffuse Midline Glioma—A Diagnostic Dilemma for the Pathologist

2021 ◽  
Author(s):  
Deepti Narasimhaiah ◽  
Bejoy Thomas ◽  
Mathew Abraham ◽  
Rajalakshmi Poyuran
Keyword(s):  
Tumor Tissue ◽  
World Health ◽  
Mutant Protein ◽  
Histone Genes ◽  
Mosaic Pattern ◽  
Diagnostic Dilemma ◽  
Who Grade ◽  
Therapeutic Implications ◽  
Health Organization ◽  
Diffuse Midline Glioma

AbstractDiffuse midline glioma, H3 K27M-mutant, is a World Health Organization (WHO) grade IV glioma arising in pons, thalamus, and spinal cord. They show mutations resulting in replacement of lysine at position 27 by methionine (K27M) of histone genes, H3F3A, HIST1H3B, and HIST1H3C. The H3 K27M mutant protein is identified in tumor tissue by immunohistochemistry. As these mutations are clonal and homogeneous, the mutant protein is normally identified in all tumor cells. Here we report a case of diffuse midline glioma with mosaic pattern of expression of H3 K27M mutant protein and discuss the diagnostic and therapeutic implications of this unusual pattern.

scholarly journals Past medical history of tumors other than meningioma is a negative prognostic factor for tumor recurrence in meningiomas WHO grade I

2021 ◽  
Author(s):  
Annamaria Biczok ◽  
Philipp Karschnia ◽  
Raffaela Vitalini ◽  
Markus Lenski ◽  
Tobias Greve ◽  
...  
Keyword(s):  
Medical History ◽  
Tumor Recurrence ◽  
Clinical History ◽  
Study Endpoint ◽  
Past Medical History ◽  
Who Grade ◽  
Increased Risk ◽  
History Of ◽  
Meningioma Recurrence ◽  
The Impact

Abstract Background Prognostic markers for meningioma recurrence are needed to guide patient management. Apart from rare hereditary syndromes, the impact of a previous unrelated tumor disease on meningioma recurrence has not been described before. Methods We retrospectively searched our database for patients with meningioma WHO grade I and complete resection provided between 2002 and 2016. Demographical, clinical, pathological, and outcome data were recorded. The following covariates were included in the statistical model: age, sex, clinical history of unrelated tumor disease, and localization (skull base vs. convexity). Particular interest was paid to the patients’ past medical history. The study endpoint was date of tumor recurrence on imaging. Prognostic factors were obtained from multivariate proportional hazards models. Results Out of 976 meningioma patients diagnosed with a meningioma WHO grade I, 416 patients fulfilled our inclusion criteria. We encountered 305 women and 111 men with a median age of 57 years (range: 21–89 years). Forty-six patients suffered from a tumor other than meningioma, and no TERT mutation was detected in these patients. There were no differences between patients with and without a positive oncological history in terms of age, tumor localization, or mitotic cell count. Clinical history of prior tumors other than meningioma showed the strongest association with meningioma recurrence (p = 0.004, HR = 3.113, CI = 1.431–6.771) both on uni- and multivariate analysis. Conclusion Past medical history of tumors other than meningioma might be associated with an increased risk of meningioma recurrence. A detailed pre-surgical history might help to identify patients at risk for early recurrence.

scholarly journals Extracranial metastases in secondary glioblastoma multiforme: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jessica Rossi ◽  
Lucia Giaccherini ◽  
Francesco Cavallieri ◽  
Manuela Napoli ◽  
Claudio Moratti ◽  
...  
Keyword(s):  
Brain Lesion ◽  
Rare Event ◽  
Subsequent Development ◽  
World Health ◽  
Who Grade ◽  
Systemic Involvement ◽  
Grade Ii ◽  
The Stability ◽  
Health Organization ◽  
Extracranial Metastases

Abstract Background Glioblastoma (GBM) is known for its devastating intracranial infiltration and its unfavorable prognosis, while extracranial involvement is a very rare event, more commonly attributed to IDH wild-type (primary) GBM evolution. Case presentation We present a case of a young woman with a World Health Organization (WHO) grade II Astrocytoma evolved to WHO grade IV IDH mutant glioblastoma, with subsequent development of lymphatic and bone metastases, despite the favorable biomolecular pattern and the stability of the primary brain lesion. Conclusions Our case highlights that grade II Astrocytoma may evolve to a GBM and rarely lead to a secondary metastatic diffusion, which can progress quite rapidly; any symptoms referable to a possible systemic involvement should be carefully investigated.

scholarly journals Surgically resected skull base meningiomas demonstrate a divergent postoperative recurrence pattern compared with non–skull base meningiomas

2016 ◽  
Vol 125 (2) ◽  
pp. 431-440 ◽  
Author(s):  
Alireza Mansouri ◽  
George Klironomos ◽  
Shervin Taslimi ◽  
Alex Kilian ◽  
Fred Gentili ◽  
...  
Keyword(s):  
Skull Base ◽  
Recurrence Rate ◽  
Postoperative Recurrence ◽  
Prior History ◽  
Skull Base Tumors ◽  
Who Grade ◽  
Predictors Of Recurrence ◽  
History Of ◽  
Skull Base Meningiomas

OBJECTIVE The objective of this study was to identify the natural history and clinical predictors of postoperative recurrence of skull base and non–skull base meningiomas. METHODS The authors performed a retrospective hospital-based study of all patients with meningioma referred to their institution from September 1993 to January 2014. The cohort constituted both patients with a first-time presentation and those with evidence of recurrence. Kaplan-Meier curves were constructed for analysis of recurrence and differences were assessed using the log-rank test. Cox proportional hazard regression was used to identify potential predictors of recurrence. RESULTS Overall, 398 intracranial meningiomas were reviewed, including 269 (68%) non–skull base and 129 (32%) skull base meningiomas (median follow-up 30.2 months, interquartile range [IQR] 8.5–76 months). The 10-year recurrence-free survival rates for patients with gross-total resection (GTR) and subtotal resection (STR) were 90% and 43%, respectively. Skull base tumors were associated with a lower proliferation index (0.041 vs 0.062, p = 0.001), higher likelihood of WHO Grade I (85.3% vs 69.1%, p = 0.003), and younger patient age (55.2 vs 58.3 years, p = 0.01). Meningiomas in all locations demonstrated an average recurrence rate of 30% at 100 months of follow-up. Subsequently, the recurrence of skull base meningiomas plateaued whereas non–skull base lesions had an 80% recurrence rate at 230 months follow-up (p = 0.02). On univariate analysis, a prior history of recurrence (p < 0.001), initial WHO grade following resection (p < 0.001), and the inability to obtain GTR (p < 0.001) were predictors of future recurrence. On multivariate analysis a prior history of recurrence (p = 0.02) and an STR (p < 0.01) were independent predictors of a recurrence. Assessing only patients with primary presentations, STR and WHO Grades II and III were independent predictors of recurrence (p < 0.001 for both). CONCLUSIONS Patients with skull base meningiomas present at a younger age and have less aggressive lesions overall. Extent of resection is a key predictor of recurrence and long-term follow-up of meningiomas is necessary, especially for non–skull base tumors. In skull base meningiomas, recurrence risk plateaus approximately 100 months after surgery, suggesting that for this specific cohort, follow-up after 100 months can be less frequent.

Malignant idiopathic intracranial hypertension revealed a hidden primary spinal leptomeningeal medulloblastoma

2021 ◽  
Vol 14 (7) ◽  
pp. e243506
Author(s):  
Naim Izet Kajtazi ◽  
Shahpar Nahrir ◽  
Wafa Al Shakweer ◽  
Juman Al Ghamdi ◽  
Ali Al Fakeeh ◽  
...  
Keyword(s):  
Excisional Biopsy ◽  
Good Recovery ◽  
Spinal Tumours ◽  
Opening Pressure ◽  
Sixth Cranial Nerve ◽  
Who Grade ◽  
Cranial Nerve Palsies ◽  
History Of ◽  
Bilateral Papilloedema ◽  
Spine Mri

Frequently the cause of raised intracranial pressure remains unresolved and rarely is related to spinal tumours, moreover less to spinal medulloblastoma without primary brain focus. An 18-year-old woman had a 3-month history of headache and impaired vision. Neurological examination revealed bilateral sixth cranial nerve palsies with bilateral papilloedema of grade III. No focal brain or spine lesion was found on imaging. Consecutive lumbar punctures showed high opening pressure and subsequent increasing protein level. Meningeal biopsy was negative. At one point, she developed an increasing headache, vomiting and back pain. Spine MRI showed diffuse nodular leptomeningeal enhancement with the largest nodule at T6–T7. Malignant cells were detected in cerebrospinal fluid. She underwent laminectomy with excisional biopsy, and pathology showed medulloblastoma WHO grade IV. She was treated with chemotherapy and craniospinal irradiation and made a good recovery.

Left ventricular apical mass after myocardial infarction—not always a thrombus: a diagnostic dilemma

2021 ◽  
Vol 14 (10) ◽  
pp. e245963
Author(s):  
Jayanty Venkata Balasubramaniyan ◽  
Judah Nijas Arul ◽  
Jebaraj Rathinasamy ◽  
Thangavel Periyasamy
Keyword(s):  
Myocardial Infarction ◽  
Systolic Dysfunction ◽  
Anterior Wall ◽  
Left Ventricular ◽  
Prior History ◽  
Surgical Removal ◽  
Diagnostic Dilemma ◽  
Echocardiographic Evaluation ◽  
Lv Mass ◽  
History Of

Myxomas arising from the left ventricle (LV) are extremely rare and can be easily mistaken for a thrombus. We report a case of a 35-year-old man who presented with an acute cerebrovascular accident, having had a prior history of an anterior wall myocardial infarction 2 years back with an echocardiographic evaluation showing mild LV systolic dysfunction. His present prothrombotic workup revealed hyperhomocystinaemia and elevated levels of factor VIII. Present echocardiography revealed a mass arising from a scarred LV wall. Considering the possibility of a thrombus, he was initially started on parenteral anticoagulation. Unfortunately, consequent echocardiogram evaluation showed no reduction in size of the LV mass hence surgical removal was done. Histopathological evaluation unveiled the mass to be a myxoma.

scholarly journals Susac's Syndrome

2011 ◽  
Vol 38 (2) ◽  
pp. 335-337 ◽  
Author(s):  
Kevin Lian ◽  
Rekha Siripurapu ◽  
Robert Yeung ◽  
Julia Hopyan ◽  
Kenneth T. Eng ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
White Matter Hyperintensities ◽  
Brain Biopsy ◽  
High Dose ◽  
Normal Brain ◽  
Left Hand ◽  
Elevated Protein ◽  
Fluid Attenuated Inversion Recovery ◽  
History Of ◽  
Previous Medical History

A 40-year-old woman with no significant previous medical history presented with a three month history of ataxia, confusion, memory difficulties, and headaches. Physical examination revealed numbness in the left hand, but was otherwise unremarkable. Magnetic resonance imaging fluid-attenuated inversion recovery (MRI FLAIR) images demonstrated multiple small white matter hyperintensities, including lesions involving the corpus callosum. There were also deep gray nuclei lesions (Figure 1). The corpus callosum lesions involved the central fibers (Figure 2). Post gadolinium T1 images demonstrated enhancement of some of the lesions as well as extensive perivascular and leptomeningeal enhancement (Figure 3). Extensive infectious serology, autoimmune panel, and paraneoplastic antibodies were negative. Lumbar puncture revealed elevated protein (1116 mg/L), but was otherwise normal. Brain biopsy indicated no apparent pathology. The patient was tentatively diagnosed with acute encephalopathy and treated with high dose steroids seven days after presentation. She was subsequently discharged and was sent for rehabilitation.

scholarly journals Prostatic Adenocarcinoma Metastatic to Pleomorphic Liposarcoma, a “Collision Phenomenon”: Report of a Case with Review of Pelvic Collision Tumors

2011 ◽  
Vol 2011 ◽  
pp. 1-7
Author(s):  
Somak Roy ◽  
Ronald L. Hrebinko ◽  
Kathleen M. Cieply ◽  
Anil V. Parwani ◽  
Uma N. M. Rao
Keyword(s):  
Pelvic Mass ◽  
Collision Tumor ◽  
The Body ◽  
Pathological Examination ◽  
Prior History ◽  
Pelvic Cavity ◽  
Collision Tumors ◽  
History Of ◽  
Conclusive Diagnosis

“Collision tumor” is an uncommon phenomenon characterized by coexistence of two completely distinct and independent tumors at the same site. Collision tumors have been reported in different sites in the body; however, these are particularly uncommon in the pelvic cavity. A 70-year-old man, with prior history of urothelial and prostate cancer, presented with a large pelvic mass detected on imaging studies. Pathological examination revealed a large liposarcoma with prostatic carcinoma embedded in it. Immunohistochemistry and florescence in situ hybridization studies were performed to reach to a conclusive diagnosis. To the best of our knowledge, this is the second case reported till date. We present the challenges encountered in the diagnosis of this case and review of pelvic collision tumors.

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