scholarly journals Meningothelial Hamartoma of the Scalp: Clinicopathologic Review of an Unusual Tumor Mimicking a Vascular Neoplasm with Review of Literature

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S46-S47
Author(s):  
L Li ◽  
D Suster
Keyword(s):  
Case Reports ◽  
Benign Lesion ◽  
Molecular Genetic ◽  
Excisional Biopsy ◽  
Molecular Study ◽  
Low Grade ◽  
Significant Past Medical History ◽  
Vascular Neoplasm ◽  
Molecular Alterations ◽  
Meningothelial Hamartoma

Abstract Introduction/Objective Benign meningothelial hamartoma of the scalp is a rare entity with only scattered case reports existing in the literature. The hamartomatous process is believed to occur secondary to ectopic displacement during embryogenesis with the migration of meningothelial cell precursors to the incorrect location or secondary to an obliterated meningocele. This tumor may be easily missed and may be misdiagnosed as lipoma or sometimes as cutaneous angiosarcoma due to the several histologic features that mimic the histology of a vascular neoplasm. Methods/Case Report We report an unusual benign skin lesion occurring in a 19-year-old man with no significant past medical history. The lesion had been present since he was an infant and had been slowly enlarging over the past 15 years. The lesion caused pain and discomfort and the patient underwent an excisional biopsy of the lesion. Histologic examination showed a subcutaneous lesion with ill-defined borders and peripheral areas of infiltration between adnexal structures. Immunohistochemistry performed on the tumor cells showed that they were positive for EMA, progesterone receptor, D2-40, and vimentin. A next-generation sequencing study using a hybrid capture-based panel examining 50 commonly mutated genes in human neoplasia was performed and showed no molecular alterations supporting the benign or non-neoplastic nature of the lesion. Along with this case, we review 20 cases of meningothelial hamartomas from 13 papers and summarize them in the table. Results (if a Case Study enter NA) N/A Conclusion To our knowledge, this is the first reported case of one of these lesions with associated molecular genetic testing. The molecular study carried out, in this case, did not disclose any genetic variants commonly associated with human neoplasia supporting the notion that this lesion does not represent the neoplastic process but rather a hamartomatous process. Meningothelial hamartoma is an exceedingly rare, benign lesion that may be confused with a low-grade vascular neoplasm due to its rare nature and unusual histologic features.

Management for Different Glioma Subtypes: Are All Low-Grade Gliomas Created Equal?

2019 ◽  
pp. 133-145 ◽  
Author(s):  
Martin C. Tom ◽  
Daniel P. Cahill ◽  
Jan C. Buckner ◽  
Jörg Dietrich ◽  
Michael W. Parsons ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
World Health ◽  
Low Grade ◽  
Lower Grade ◽  
Future Directions ◽  
Molecular Alterations ◽  
Lower Grade Glioma ◽  
Grade 3 ◽  
Health Organization

Following the identification of key molecular alterations that provided superior prognostication and led to the updated 2016 World Health Organization (WHO) Central Nervous System (CNS) Tumor Classification, the understanding of glioma behavior has rapidly evolved. Mutations in isocitrate dehydrogenase (IDH) 1 and 2 are present in the majority of adult grade 2 and 3 gliomas, and when used in conjunction with 1p/19q codeletion for classification, the prognostic distinction between grade 2 versus grade 3 is diminished. As such, the previously often used term of “low-grade glioma,” which referred to grade 2 gliomas, has now been replaced by the phrase “lower-grade glioma” to encompass both grade 2 and 3 tumors. Additional molecular characterization is ongoing to even further classify this heterogeneous group of tumors. With such a colossal shift in the understanding of lower-grade gliomas, management of disease is being redefined in the setting of emerging molecular-genetic biomarkers. In this article, we review recent progress and future directions regarding the surgical, radiotherapeutic, chemotherapeutic, and long-term management of adult lower-grade gliomas.

scholarly journals An unusual case of aggressive malignant spread of epithelioid hemangioendothelioma

Rare Tumors ◽  
2021 ◽  
Vol 13 ◽  
pp. 203636132110108
Author(s):  
Ashley D Hickman ◽  
Evandro D Bezerra ◽  
Anja C Roden ◽  
Matthew T Houdek ◽  
Jonathan D Barlow ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Soft Tissue ◽  
Multimodal Treatment ◽  
Unusual Case ◽  
Case Reports ◽  
Case Series ◽  
Epithelioid Hemangioendothelioma ◽  
Vascular Neoplasm ◽  
Pulmonary Imaging ◽  
Low Incidence

Epithelioid hemangioendothelioma (EHE) is a rare vascular neoplasm which typically originates from liver, lung, or bone. Due to the low incidence of disease, the most effective treatment is not easily studied and much of the information known about EHE has been learned through case reports and case series. In this case, we will present an uncommon form of primary soft tissue EHE with local recurrence, bone metastasis, and lymphangitic spread to the lungs leading to respiratory failure. Imaging of the chest was atypical for EHE with intraseptal thickening and hilar lymphadenopathy. Respiratory failure was progressive despite aggressive multimodal treatment. This case highlights an unusually aggressive recurrence and metastasis of primary soft tissue EHE with atypical pulmonary imaging findings.

Molecular Alterations in Pediatric Low-Grade Gliomas That Led to Death

2021 ◽  
Author(s):  
Jared T Ahrendsen ◽  
Claire Sinai ◽  
David M Meredith ◽  
Seth W Malinowski ◽  
Tabitha M Cooney ◽  
...  
Keyword(s):  
Braf V600e ◽  
Molecular Characteristics ◽  
Low Grade ◽  
Diffuse Astrocytoma ◽  
Term Survival ◽  
Pten Loss ◽  
Low Grade Gliomas ◽  
Molecular Alterations ◽  
Idh1 R132h ◽  
Poor Outcomes

Abstract Pediatric low-grade gliomas (PLGGs) have excellent long-term survival, but death can occasionally occur. We reviewed all PLGG-related deaths between 1975 and 2019 at our institution: 48 patients were identified; clinical data and histology were reviewed; targeted exome sequencing was performed on available material. The median age at diagnosis was 5.2 years (0.4–23.4 years), at death was 13.0 years (1.9–43.2 years), and the overall survival was 7.2 years (0.0–33.3 years). Tumors were located throughout CNS, but predominantly in the diencephalon. Diagnoses included low-grade glioma, not otherwise specified (n = 25), pilocytic astrocytoma (n = 15), diffuse astrocytoma (n = 3), ganglioglioma (n = 3), and pilomyxoid astrocytoma (n = 2). Recurrence occurred in 42/48 cases, whereas progression occurred in 10. The cause of death was direct tumor involvement in 31/48 cases. Recurrent drivers included KIAA1549-BRAF (n = 13), BRAF(V600E) (n = 3), NF1 mutation (n = 3), EGFR mutation (n = 3), and FGFR1-TACC1 fusion (n = 2). Single cases were identified with IDH1(R132H), FGFR1(K656E), FGFR1 ITD, FGFR3 gain, PDGFRA amplification, and mismatch repair alteration. CDKN2A/B, CDKN2C, and PTEN loss was recurrent. Patients who received only chemotherapy had worse survival compared with patients who received radiation and chemotherapy. This study demonstrates that PLGG that led to death have diverse molecular characteristics. Location and co-occurring molecular alterations with malignant potential can predict poor outcomes.

Analysis of Amplified Genes in Samples of Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma by CGH-Array Technique

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S51-S51
Author(s):  
Erika Egal ◽  
Welligton Sabino ◽  
João Scarini ◽  
Reydson Souza ◽  
Albina Altemani ◽  
...  
Keyword(s):  
Pleomorphic Adenoma ◽  
Malignant Transformation ◽  
Genetic Disorders ◽  
Benign Lesion ◽  
Carcinoma Ex Pleomorphic Adenoma ◽  
Low Grade ◽  
Cgh Array ◽  
Microsoft Excel ◽  
Histopathological Subtype ◽  
Common Target

Abstract Introduction Pleomorphic adenoma (PA) is a benign lesion of the salivary glands that can suffer malignant transformation to carcinoma ex adenoma pleomorphic (CXPA). The pathogenesis of CXPA has been attributed to the accumulation of genetic disorders in preexisting PAs. However, there is no confirmation whether there is a common target gene involved in all histopathological subtypes or the decisive factors for malignant transformation in a histopathological subtype are specific. Objectives To further analyze genes found in PA and CXPA using the CGH-array technique. The genes found were analyzed using the InteractiVenn virtual tool (http://www.interactivenn.net/) and grouped into a Microsoft Excel worksheet. Results: Of the 460 genes amplified in the studied samples, 287 (62.4%) were related only to CXPA, whereas 144 (31.3%) were related to residual PA. Twenty-nine (6.3%) of these genes were common between residual PA and CXPA. Regarding the degree of invasion of CXPA, there was an increase in the number of genes amplified as the degree of invasion and aggression increased: 8 genes related to intracapsular CXPA, 65 to minimally invasive CXPA, and 373 to weakly invasive. Moreover, when comparing residual AP and intracapsular CXPA, two genes were common to these groups: ERRB2 and GRB7. As for the histological subtype, the high-grade samples had more amplifications (320 amplified genes) than the low-grade ones (129 genes). Three of these genes were common among residual PAs and CXPA: HMGA2, RPSAP52, and LOC100129940. As for the replicates, MYNC, ERBB2, BRIP1, and HMGA2 were the most repeated amplified genes in the residual PAs. HMGA2, ERRBB2, CDK12, RPSAP52, LOC100129940, and LOC100507250 were the genes with the most replicates in CXPA. Conclusion HMGA2, ERRB2, and RPSAP52 may play a key role in PA carcinogenesis, whereas GRB7, CDK12, MYNC, and BRIP1 appear to act as coadjutants.

Unilateral vestibular schwannoma with other neurofibromatosis Type 2–related tumors: clinical and molecular study of a unique phenotype

2006 ◽  
Vol 104 (2) ◽  
pp. 201-207 ◽  
Author(s):  
Manish Aghi ◽  
Lan Kluwe ◽  
Micah T. Webster ◽  
Lee B. Jacoby ◽  
Fred G. Barker ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Neurofibromatosis Type ◽  
Molecular Study ◽  
Molecular Genetic Analysis ◽  
Neurofibromatosis Type 2 ◽  
Spinal Tumors ◽  
Rapid Progression ◽  
Eighth Cranial Nerve ◽  
Cranial Nerve Dysfunction

Object Although the manifestations of neurofibromatosis Type 2 (NF2) vary, the hallmark is bilateral vestibular schwannomas (VSs). The authors studied the clinical course and genetic basis of unilateral VSs associated with other NF2-related tumors. Methods Forty-four adults presenting with unilateral VSs and other NF2-related tumors were identified. A comprehensive review of patient records and cranial imaging was conducted. Molecular analysis of the NF2 locus was performed in available tumors and paired blood specimens. Patient age at symptomatic onset ranged from 11 to 63 years (mean 32 years). Twenty-two patients (50%) presented with eighth cranial nerve dysfunction. Twenty-six presented with multiple lesions. Thirty-eight harbored other intracranial tumors and 27 had spinal tumors, with most lesions situated ipsilateral to the VS. No patient had a relative with NF2, although two of 63 offspring had isolated NF2-related findings. A contralateral VS developed in four patients 3 to 46 years after the symptomatic onset of a unilateral VS, and two of these patients experienced rapid progression to total deafness. Results of a Kaplan–Meier analysis identified actuarial chances of developing contralateral VS: 2.9% (3–17 years after the VS symptomatic onset of unilateral VS), 11% (18–24 years), and 28.8% (25–40 years). Mosaicism for the NF2 gene mutation was proven in eight patients. Conclusions The authors describe the clinical features of this unique phenotype—unilateral VS with other NF2-related tumors. Persons with this phenotype should undergo evaluation and monitoring similar to that conducted in patients with NF2, and the possibility of aggressive contralateral VS formation should be considered in their treatment. Molecular genetic analysis is best performed using resected tumor specimens and will enable future studies to determine the genetic risks of individuals with mosaicism.

scholarly journals Lymphoepithelioma-Like Carcinoma of the Breast: A Case Report Unveiling Several Clinical and Histopathological Challenges

2018 ◽  
Vol 2018 ◽  
pp. 1-7
Author(s):  
Tarek Aridi ◽  
Mohamad Fawwaz ◽  
Ahmad Kassab ◽  
Marwan Bahmad ◽  
Faisal Houcheimi ◽  
...  
Keyword(s):  
Case Reports ◽  
Progesterone Receptors ◽  
Radical Mastectomy ◽  
Residual Tumor ◽  
Excisional Biopsy ◽  
Axillary Lymph ◽  
Tumor Type ◽  
Estrogen And Progesterone Receptors ◽  
Type Iv ◽  
Criteria For Diagnosis

Lymphoepithelioma-like carcinoma (LELC) of the breast is an extremely rare tumor type. Histologically, it mimics undifferentiated nasopharyngeal carcinoma by demonstrating nests of neoplastic epithelial cells in a background of lymphoplasmacytic infiltrates. This paper reports a 62-year-old female patient with a 3 × 1.5 cm BI-RADS type IV breast mass diagnosed on excisional biopsy as LELC. The tumor is negative for estrogen and progesterone receptors and did not overexpress HER2/neu. Routine tests for clearance before surgery were performed, and patient was managed by a modified radical mastectomy with axillary lymph node dissection showing no residual tumor. Surgical CAse REports (SCARE) guidelines were followed for reporting our case. The rarity of LELC of the breast warrants the establishment and implementation of well-defined guidelines and criteria for diagnosis and management.

scholarly journals Case Report: Efficacy of Pyrotinib in ERBB2 Amplification Pulmonary Adenoid Cystic Carcinoma

2021 ◽  
Vol 11 ◽  
Author(s):  
Zhongben Tang ◽  
Feng Lin ◽  
Jiarong Xiao ◽  
Xiaojun Du ◽  
Jian Zhang ◽  
...  
Keyword(s):  
Targeted Therapy ◽  
Adenoid Cystic Carcinoma ◽  
Large Scale ◽  
Case Reports ◽  
Growth Factor Receptor ◽  
Low Grade ◽  
Adenoid Cystic ◽  
Epidermal Growth ◽  
Low Incidence ◽  
Current Report

Primary pulmonary adenoid cystic carcinomas are salivary tumors that are low-grade malignant and prone to recurrence and metastasis. Surgery is currently the main treatment, but there is no standard with regard to postoperative adjuvant therapy. Adenoid cystic carcinoma is more sensitive to radiotherapy and patients benefit less from chemotherapy, but few studies have focused on targeted therapy, and their conclusions are inconsistent. With respect to primary pulmonary adenoid cystic carcinoma, large-scale studies cannot be conducted due to its low incidence, and studies on the targeted therapy of it are very scarce. A few case reports indicate that targeted therapy can be effective however, suggesting that it may be a good option. The current report is the first on the occurrence of human epidermal growth factor receptor 2 amplification in pulmonary adenoid cystic carcinoma. The patient was treated with pyrotinib for 6 months and achieved stable disease.

scholarly journals Evaluation of efficacy and safety of cryotherapy in benign and premalignant cervical lesion

2021 ◽  
Vol 10 (8) ◽  
pp. 3066
Author(s):  
Krishankumar D. Patel ◽  
Ronak D. Karnavat ◽  
Dimple G. Viramgama ◽  
Roma K. Dalal
Keyword(s):  
Pap Smear ◽  
Benign Lesion ◽  
Precancerous Lesion ◽  
Low Grade ◽  
Cure Rate ◽  
High Satisfaction ◽  
High Satisfaction Rate ◽  
History Of ◽  
Intraepithelial Lesion ◽  
Postcoital Bleeding

 Background: Cervical cancer ranks 3rd leading cause of cancer in the world. Cervical erosion is mostly asymptomatic in women but when symptoms like postcoital bleeding and vaginal discharge occur in the presence of cervical erosion, it becomes important to identify whether the erosion is a benign lesion or CIN or cancer by means of PAP smear and Biopsy. Treatment for benign and precancerous lesion can be provided by ablative or excisional methods. Cryotherapy was reliably used to treat cervical lesions.Methods: Women among 18 to 60 years of age attending outpatient department who had history of chronic discharge per vaginum, postcoital bleeding, dyspareunia, chronic pelvic pain. Patients were divided in two by PAP smear in erosion with inflammatory changes and presence of low grade squamous intraepithelial lesion. Cryotherapy was performed using double-freeze single session procedure. Each patient was followed up at 2, 6 and at 12 weeks. Complications and patients’ satisfaction were recorded and compared to calculate cure rate of symptoms, healing of lesion.Results: The healing efficacy of cryotherapy at 6th and 12th week was 87.8% and 91.1% respectively. Cryotherapy had high satisfaction rate. The cure rate was not affected by location of lesion and size of lesion in both inflammation and LSIL.Conclusions: Cryotherapy is an effective method for treatment of cervical erosion and effectively eliminates symptoms. Patients were highly satisfied. Cryotherapy is cheap, easy, and safe treatment. It is suitable for both hospital and office-based practice.

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