bims-netuvo Biomed News
on Nerves in tumours of visceral organs
Issue of 2023–02–26
fiveteen papers selected by
Maksym V. Kopanitsa, The Francis Crick Institute
  1. How cancer hijacks the body's homeostasis through the neuroendocrine system.
  2. Magnetic Nanomaterials Mediate Electromagnetic Stimulations of Nerves for Applications in Stem Cell and Cancer Treatments.
  3. The role of glutamate receptors in the regulation of the tumor microenvironment.
  4. Depression Is Associated with an Increased Risk of Subsequent Cancer Diagnosis: A Retrospective Cohort Study with 235,404 Patients.
  5. Recent Advances in Cervical Cancer Management: A Review on Novel Prognostic Factors in Primary and Recurrent Tumors.
  6. Spectral CT-based nomogram for preoperative prediction of perineural invasion in locally advanced gastric cancer: a prospective study.
  7. Do We Underestimate Colorectal Cancer Patients Under 50?
  8. Impact of Perineural Invasion and Preexisting Type 2 Diabetes on Patients with Esophageal Squamous Cell Carcinoma Receiving Neoadjuvant Chemoradiotherapy.
  9. Human epidermal growth factor receptor-2 gene expression positivity determined by silver in situ hybridization/immunohistochemistry methods and associated factors in a cohort of Sri Lankan patients with gastric adenocarcinoma: a prospective study.
  10. A giant malignant peripheral nerve sheath tumor of adrenal gland: A case report.
  11. Colorectal Cancer (CRC): Investigating the Expression of the Suppressor of Fused (SuFu) Gene and Its Relationship with Several Inflammatory Blood-Based Biomarkers.
  12. Partial excision of schwannomatosis with fascicular invasion occurring in the ulnar nerve above the elbow: A 1-year follow-up study.
  13. Malignant peripheral nerve sheath tumours in a patient with Neurofibromatosis-1.
  14. Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
  15. Malignant Peripheral Nerve Sheath Tumors: Latest Concepts in Disease Pathogenesis and Clinical Management.
  1. Trends Neurosci. 2023 Feb 16. pii: S0166-2236(23)00019-X. [Epub ahead of print]
    How cancer hijacks the body's homeostasis through the neuroendocrine system.
    Radomir M Slominski, Chander Raman, Jake Y Chen, Andrzej T Slominski.
      During oncogenesis, cancer not only escapes the body's regulatory mechanisms, but also gains the ability to affect local and systemic homeostasis. Specifically, tumors produce cytokines, immune mediators, classical neurotransmitters, hypothalamic and pituitary hormones, biogenic amines, melatonin, and glucocorticoids, as demonstrated in human and animal models of cancer. The tumor, through the release of these neurohormonal and immune mediators, can control the main neuroendocrine centers such as the hypothalamus, pituitary, adrenals, and thyroid to modulate body homeostasis through central regulatory axes. We hypothesize that the tumor-derived catecholamines, serotonin, melatonin, neuropeptides, and other neurotransmitters can affect body and brain functions. Bidirectional communication between local autonomic and sensory nerves and the tumor, with putative effects on the brain, is also envisioned. Overall, we propose that cancers can take control of the central neuroendocrine and immune systems to reset the body homeostasis in a mode favoring its expansion at the expense of the host.
    Keywords:  biogenic amines; hypothalamic–pituitary axis; melatonin; stress; survival; tumor progression
    DOI:  https://doi.org/10.1016/j.tins.2023.01.003
  2. J Funct Biomater. 2023 Jan 20. pii: 58. [Epub ahead of print]14(2):
    Magnetic Nanomaterials Mediate Electromagnetic Stimulations of Nerves for Applications in Stem Cell and Cancer Treatments.
    Lei Wang, Yefan Duan, Shujie Lu, Jianfei Sun.
      Although some progress has been made in the treatment of cancer, challenges remain. In recent years, advancements in nanotechnology and stem cell therapy have provided new approaches for use in regenerative medicine and cancer treatment. Among them, magnetic nanomaterials have attracted widespread attention in the field of regenerative medicine and cancer; this is because they have high levels of safety and low levels of invasibility, promote stem cell differentiation, and affect biological nerve signals. In contrast to pure magnetic stimulation, magnetic nanomaterials can act as amplifiers of an applied electromagnetic field in vivo, and by generating different effects (thermal, electrical, magnetic, mechanical, etc.), the corresponding ion channels are activated, thus enabling the modulation of neuronal activity with higher levels of precision and local modulation. In this review, first, we focused on the relationship between biological nerve signals and stem cell differentiation, and tumor development. In addition, the effects of magnetic nanomaterials on biological neural signals and the tumor environment were discussed. Finally, we introduced the application of magnetic-nanomaterial-mediated electromagnetic stimulation in regenerative medicine and its potential in the field of cancer therapy.
    Keywords:  cancer; electromagnetic stimulation; magnetic nanomaterials; regenerative medicine
    DOI:  https://doi.org/10.3390/jfb14020058
  3. Front Immunol. 2023 ;14 1123841
    The role of glutamate receptors in the regulation of the tumor microenvironment.
    Stephane Koda, Jing Hu, Xiaoman Ju, Guowei Sun, Simin Shao, Ren-Xian Tang, Kui-Yang Zheng, Juming Yan.
      Glutamate, as one of the most important carbon sources in the TCA cycle, is central in metabolic processes that will subsequently influence tumor progression. Several factors can affect the expression of glutamate receptors, playing either a tumor-promoting or tumor-suppressor role in cancer. Thus, the activation of glutamate receptors by the ligand could play a role in tumor development as ample studies have demonstrated the expression of glutamate receptors in a broad range of tumor cells. Glutamate and its receptors are involved in the regulation of different immune cells' development and function, as suggested by the receptor expression in immune cells. The activation of glutamate receptors can enhance the effectiveness of the effector's T cells, or decrease the cytokine production in immunosuppressive myeloid-derived suppressor cells, increasing the antitumor immune response. These receptors are essential for the interaction between tumor and immune cells within the tumor microenvironment (TME) and the regulation of antitumor immune responses. Although the role of glutamate in the TCA cycle has been well studied, few studies have deeply investigated the role of glutamate receptors in the regulation of cancer and immune cells within the TME. Here, by a systematic review of the available data, we will critically assess the physiopathological relevance of glutamate receptors in the regulation of cancer and immune cells in the TME and provide some unifying hypotheses for futures research on the role of glutamate receptors in the immune modulation of the tumor.
    Keywords:  glutamate; glutamate receptors; immunoregulation; metabolic processes; tumor micro-environment
    DOI:  https://doi.org/10.3389/fimmu.2023.1123841
  4. Brain Sci. 2023 Feb 10. pii: 302. [Epub ahead of print]13(2):
    Depression Is Associated with an Increased Risk of Subsequent Cancer Diagnosis: A Retrospective Cohort Study with 235,404 Patients.
    Hannah Mössinger, Karel Kostev.
      Background: Depression and cancer share common risk factors and mechanisms of disease. The current literature has not explored the effect of depression on cancer risk. We assessed the difference in cancer risk in patients with and without depression in a large cohort in Germany. Methods: We compared cancer risk and incidence in patients with and without depression aged 18 or above diagnosed between 2015 and 2018 documented in the Disease Analyzer Database. Patients from a comparator group were matched 1:1 to patients with depression based on propensity scores. Patients with previous bipolar disorder (F31), mania (F30) or schizophrenia (F20-29) and cancer diagnosis 3 years prior to index date were excluded. Analyses were stratified by cancer type, age group, and gender. Results: A total of 117,702 patients with depression were included and matched 1:1, resulting in a cohort overall of 235,404. 4.9% of patients with depression compared to 4.1% without depression received at least one cancer diagnosis over 3.9 years median follow-up. The depression group showed an 18% increase in risk for a cancer diagnosis overall, with largest increased risk in lung cancer (HR: 1.39 [1.21-1.60], p < 0.0001), cancers of the gastro-intestinal-tract (HR: 1.30 [1.15-1.46], p < 0.0001), breast (HR: 1.23 [1.12-1.35], p < 0.0001) and urinary (HR: 1.23 [1.06-1.43], p < 0.01). Similarly, the incidence of cancer diagnosis overall increased by 22% for depressed patients. IRs showed no difference across cancer types. Conclusions: Depression increased the risk for cancer diagnosis consistently independent of the comparison method used. The potential mediating factors or shared mechanisms of the disease require further investigation.
    Keywords:  cancer; depression; general physicians; outpatients
    DOI:  https://doi.org/10.3390/brainsci13020302
  5. Cancers (Basel). 2023 Feb 10. pii: 1137. [Epub ahead of print]15(4):
    Recent Advances in Cervical Cancer Management: A Review on Novel Prognostic Factors in Primary and Recurrent Tumors.
    Angela Santoro, Frediano Inzani, Giuseppe Angelico, Damiano Arciuolo, Emma Bragantini, Antonio Travaglino, Michele Valente, Nicoletta D'Alessandris, Giulia Scaglione, Stefania Sfregola, Alessia Piermattei, Federica Cianfrini, Paola Roberti, Gian Franco Zannoni.
       BACKGROUND: Several pathological parameters, including tumor size, depth of stromal invasion, lympho-vascular space invasion and lymph node status, have been proposed as prognostic predictors in cervical cancer. However, given the high mortality and recurrence rate of cervical cancer, novel parameters that are able to provide additional prognostic information are needed in order to allow a better prognostic stratification of cervical cancer patients.
    METHODS: A search was conducted on PubMed to identify relevant literature data regarding prognostic factors in cervical cancer. The key words "cervical cancer", "prognostic factors", "pathology", and "outcome" were used.
    RESULTS: The novel pathological grading system based on tumor budding and cell nest size appeared the most relevant prognostic factor in primary neoplasms. Moreover, other potentially useful prognostic factors were tumor size, depth of stromal invasion, lympho-vascular space invasion, perineural invasion, tumor-free distance and tumor-infiltrating lymphocytes. Prognostic factors related to advanced-stage cervical cancer, including lymph-nodes status, endometrial and cervical involvement as well as distant metastases, were also taken into consideration.
    CONCLUSIONS: According to our findings, tumor budding and cell nest size grading system, depth of stromal invasion, lympho-vascular space invasion, perineural invasion, tumor-free distance and tumor-infiltrating lymphocytes appeared the most relevant factors included in the pathology report.
    Keywords:  cervical cancer; grading; outcome; pathology; prognosis
    DOI:  https://doi.org/10.3390/cancers15041137
  6. Eur Radiol. 2023 Feb 24.
    Spectral CT-based nomogram for preoperative prediction of perineural invasion in locally advanced gastric cancer: a prospective study.
    Jing Li, Shuning Xu, Yi Wang, Mengjie Fang, Fei Ma, Chunmiao Xu, Li Hailiang.
       OBJECTIVES: This work focused on developing and validating the spectral CT-based nomogram to preoperatively predict perineural invasion (PNI) for locally advanced gastric cancer (LAGC).
    METHODS: This work prospectively included 196 surgically resected LAGC patients (139 males, 57 females, 59.55 ± 11.97 years) undergoing triple enhanced spectral CT scans. Patients were labeled as perineural invasion (PNI) positive and negative according to pathologic reports, then further split into primary (n = 130) and validation cohort (n = 66). We extracted clinicopathological information, follow-up data, iodine concentration (IC), and normalized IC values against to aorta (nICs) at arterial/venous/delayed phases (AP/VP/DP). Clinicopathological features and IC values between PNI positive and negative groups were compared. Multivariable logistic regression was performed to screen independent risk factors of PNI. Then, a nomogram was established, and its capability was determined by ROC curves. Its clinical use was evaluated by decision curve analysis. The correlations of PNI and the nomogram with patients' survival were explored by log-rank survival analysis.
    RESULTS: Borrmann classification, tumor thickness, and nICDP were independent predictors of PNI and used to build the nomogram. The nomogram yielded higher AUCs of 0.853 (0.744-0.928) and 0.782 (0.701-0.850) in primary and validation cohorts than any other parameters (p < 0.05). Both PNI and the nomogram were related to post-surgical treatment planning. Only PNI was associated with disease-free survival in the primary cohort (p < 0.05).
    CONCLUSION: This work prospectively established a spectral CT-based nomogram, which can effectively predict PNI preoperatively and potentially guide post-surgical treatment strategy in LAGC.
    KEY POINTS: • The present prospective study established a spectral CT-based nomogram for preoperative prediction of perineural invasion in LAGC. • The proposed nomogram, including morphological features and the quantitative iodine concentration values from spectral CT, had the potential to predict PNI for LAGC before surgery, along with guide post-surgical treatment planning. • Normalized iodine concentration at the delayed phase was the most valuable quantitative parameter, suggesting the importance of delayed enhancement in gastric CT.
    Keywords:  Computed tomography, spectral imaging; Gastric cancer; Iodine concentration; Perineural invasion
    DOI:  https://doi.org/10.1007/s00330-023-09464-9
  7. Pol Przegl Chir. 2022 May 02. 95(1): 13-19
    Do We Underestimate Colorectal Cancer Patients Under 50?
    Sami Benli, Tahsin Colak, Mehmet Özgür Türkmenoğlu, Habip Sari, Caner Baysan.
      &lt;b&gt; Introduction:&lt;/b&gt; Early-onset colorectal cancer (EOCRC) accounts for approximately 10% of all colorectal cancers (CRCs). EOCRC has a certain hereditary predisposition and distinct clinicopathological and molecular features compared to the traditional average-onset of colorectal cancer (AOCRC). As previous publications have shown, EOCRC has a more advanced TNM stage and a more aggressive tumor histopathology. &lt;/br&gt;&lt;/br&gt; &lt;b&gt; Aim:&lt;/b&gt; In this study, we aimed to evaluate the differences and similarities of EOCRC compared to AOCRC based on clinicopathological characteristics. &lt;/br&gt;&lt;/br&gt; &lt;b&gt;Material and methods:&lt;/b&gt; Between January 2010 and December 2020, 394 patients with inclusion criteria who were operated on at the 3rd level health center for colorectal cancer were included in the study. Patients were divided into two groups as EOCRC (50 years and under) and AOCRC. Pearson&apos;s chi-square test was used to compare categorical variables in independent groups. In addition, logistic regression analysis was performed using the Backward method with the variables whose relationship with the age group was evaluated, with P &lt; 0.100. &lt;/br&gt;&lt;/br&gt; &lt;b&gt;Results:&lt;/b&gt; Our final analysis included 80 EOCRC cases and 314 controls. When the EOCRC group was compared with the AOCRC group, there was no statistically significant difference between gender, tumor location, T stage of the tumor, and survival (P = 0.190, P = 0.924, P = 0.165, P = 0.574). However, a statistically significant difference in the N stage, degree of differentiation, lymphovascular invasion (LVI) and perineural invasion (PNI) status, and P-values were: P = 0.006, P = 0.029, P = 0.019, and P = 0.003, respectively. &lt;/br&gt;&lt;/br&gt; &lt;b&gt;Conclusion:&lt;/b&gt; EOCRC has more aggressive tumor biology than AOCRC. Our study shows that more advanced N stage, poor differentiation, tumor deposits, LVI, and PNI are seen more frequently in EOCRC.
    Keywords:  colorectal cancer; early-onset; late-onset colorectal cancer; young adult
    DOI:  https://doi.org/10.5604/01.3001.0015.8386
  8. Cancers (Basel). 2023 Feb 09. pii: 1122. [Epub ahead of print]15(4):
    Impact of Perineural Invasion and Preexisting Type 2 Diabetes on Patients with Esophageal Squamous Cell Carcinoma Receiving Neoadjuvant Chemoradiotherapy.
    Nai-Wen Su, Lai-Man Mok, Mei-Lin Chan, Hung-Chang Liu, Wei-Chin Chang, Chun-Ho Yun, Tze-Yu Shieh, Ming-Che Wu, Huan-Chau Lin, Wen-Chien Huang, Yu-Jen Chen.
      Neoadjuvant chemoradiotherapy (neoCRT) followed by surgery is the cornerstone treatment strategy in locally advanced esophageal squamous cell carcinoma (ESCC). Despite this high- intensity multimodality therapy, most patients still experience recurrences and metastases, especially those who do not achieve a pathological complete response (pCR) after neoCRT. Here, we focused on identifying poor prognostic factors. In this retrospective cohort study; we enrolled 140 patients who completed neoCRT plus surgery treatment sequence with no interval metastasis. Overall, 45 of 140 patients (32.1%) achieved a pCR. The overall survival, disease-free survival (DFS), and metastasis-free survival was significantly better in patients with a pCR than in patients with a non-pCR. In the non-pCR subgroup, the presence of perineural invasion (PNI) and preexisting type 2 diabetes (T2DM) were two factors adversely affecting DFS. After adjusting for other factors, multivariate analysis showed that the hazard ratio (HR) was 2.354 (95% confidence interval [CI] 1.240-4.467, p = 0.009) for the presence of PNI and 2.368 (95% CI 1.351-4.150, p = 0.003) for preexisting T2DM. Patients with a combination of both factors had the worst survival. In conclusion, PNI and preexisting T2DM may adversely affect the prognosis of patients with ESCC receiving neoadjuvant chemoradiotherapy.
    Keywords:  esophageal squamous cell carcinoma; neoadjuvant chemoradiotherapy; perineural invasion; type 2 diabetes
    DOI:  https://doi.org/10.3390/cancers15041122
  9. J Int Med Res. 2023 Feb;51(2): 3000605231154403
    Human epidermal growth factor receptor-2 gene expression positivity determined by silver in situ hybridization/immunohistochemistry methods and associated factors in a cohort of Sri Lankan patients with gastric adenocarcinoma: a prospective study.
    Duminda Subasinghe, Nathan Acott, Pasyodun Koralage Buddhika Mahesh, Sivasuriya Sivaganesh, Sithum Munasinghe, Mariyan Priyanthi Kumarasinghe, Dharmabandu Nandaveva Samarasekera, Menaka Dilani Samarawickrema Lokuhetty.
       OBJECTIVE: Positive human epidermal growth factor 2 (HER2) expression and its predictive clinicopathological features remain unclear in Sri Lankan gastric cancer (GC) patients. Here, we aimed to determine GC HER2 status predictors by analyzing associations between clinicopathological features and HER2 expression using immunohistochemistry (IHC) and silver in situ hybridization (SISH).
    METHODS: During this 4-year prospective study, clinicopathological data were collected from participants in the National Hospital of Sri Lanka. HER2 IHC and SISH were performed using commercial reagents. Using chi-square tests, associations of HER2-IHC/SISH with clinicopathological features were analyzed.
    RESULTS: Overall, 145 GC patients were included, 69 had gastrectomies and 76 had biopsies. Positive HER2 expression by IHC was associated with age <60 years, high T stage (assessed pathologically in resections and radiologically in biopsies), high nuclear grade, tumor necrosis, mitosis >5/high-power field, with additional perineural invasion and lymphovascular invasion in resections. These features, excluding lymphovascular invasion but including male sex, were associated with HER2 expression by SISH.
    CONCLUSIONS: Age <60 years, high nuclear grade, tumor necrosis, and perineural invasion are associated factors of HER2 status. These could be used to triage GC patients for HER2 status testing in limited resource settings where IHC/SISH analysis is costly.
    Keywords:  Human epidermal growth factor 2; clinicopathological factors; diagnosis; gastric carcinoma; immunohistochemistry; silver in situ hybridization
    DOI:  https://doi.org/10.1177/03000605231154403
  10. Asian J Surg. 2023 Feb 21. pii: S1015-9584(23)00195-1. [Epub ahead of print]
    A giant malignant peripheral nerve sheath tumor of adrenal gland: A case report.
    Bo Wang, Yao Liu, Chuan Hu, Lei Cao.
      
    Keywords:  Adrenal gland; Case report; Malignant peripheral nerve sheath tumor
    DOI:  https://doi.org/10.1016/j.asjsur.2023.02.052
  11. Biomedicines. 2023 Feb 13. pii: 540. [Epub ahead of print]11(2):
    Colorectal Cancer (CRC): Investigating the Expression of the Suppressor of Fused (SuFu) Gene and Its Relationship with Several Inflammatory Blood-Based Biomarkers.
    Tahseen Bilal Rather, Ishrat Parveiz, Gulzar A Bhat, Gowhar Rashid, Kulsum Akhtar, Rizwanul Haque, Mohammad Shamsul Ola, Mehboob Ali, Rauf A Wani, Ishrat Younas Khan, Syed Besina, Syed Mudassar.
       BACKGROUND: Suppressor of fused (SuFu) is a tumor-suppressor gene that regulates hedgehog signaling. Its involvement in some malignancies is broadly accepted. However, its association with colorectal cancer (CRC) pathogenesis is not clear. Likewise, no study has clearly associated blood-based inflammatory biomarkers with cancer diagnosis/prognosis as yet.
    AIM: Our goal was to look at SuFu expression levels in CRC patients and its relationship with other clinicopathological factors. Additionally, we looked into the function of a few blood-based biomarkers in CRC and whether or not a combined strategy at the genetic and clinical levels can be applied in CRC.
    METHODS: The investigation included 98 histopathologically confirmed CRC samples and adjacent normal tissues (controls). A colonoscopy was followed by a targeted biopsy for each suspected colon cancer patient. A CT scan and MRI were also performed on every patient with rectal cancer. Real-time polymerase chain reaction and immunohistochemistry (IHC) were used for assessment. A Beckman Coulter DxH900 was used to examine blood parameters. A Beckman Coulter DxI800 was used to identify pretreatment carcinoma embryonic antigens (CEA) and carbohydrate antigens (CA 19-9) in CRC patients.
    RESULTS: The expression of SuFu was associated with gender, education, passive smoking, tumor grade, perineural invasion (PNI), lymph node metastasis (LNM), node status, stage, vital status, and recurrence (p < 0.05). In the combined analysis, the areas under the curve produced by the platelet-to-lymphocyte ratio (PLR), neutrophil-to-lymphocyte ratio (NLR), and red cell distribution width (RDW) were the greatest (AUCRDW+PLR+NLR = 0.91, 95% CI: 0.86-0.93, p < 0.05). Furthermore, the most severe pathological features were linked to RDW, PLR, NLR, and HPR. SuFu expression, node status, LNM, PNI, and stage all had significant correlations with OS and DFS rates in IHC-based univariate survival analysis (p < 0.05). According to the Cox regression, CA-19.9 had a strong independent predictive link with 3-year DFS (p < 0.05).
    CONCLUSION: In CRC, SuFu was downregulated both transcriptionally and translationally, was primarily nucleo-cytoplasmic, and was expressed less in high-grade tumors. In addition, SuFu was linked to a poor overall and disease-free survival rate. It may be possible to use SuFu as a therapeutic target for CRC in the future. However, SuFu expression had no effect on RDW, PLR, NLR, or HPR serum levels.
    Keywords:  Kashmir; SuFu; colorectal cancer; immunohistochemistry; quantitative real-time PCR
    DOI:  https://doi.org/10.3390/biomedicines11020540
  12. Ann Chir Plast Esthet. 2023 Feb 16. pii: S0294-1260(23)00004-3. [Epub ahead of print]
    Partial excision of schwannomatosis with fascicular invasion occurring in the ulnar nerve above the elbow: A 1-year follow-up study.
    M-Y Chang, J H Kie, J Chae, J-K Lee.
      Although not as common as solitary lesions, multiple schwannomas do occur, even in single nerve lesions. We report a rare case of a 47-year-old female patient who presented with multiple schwannomas with inter-fascicular invasion in the ulnar nerve above the cubital tunnel. Preoperative MRI revealed a 10-cm multilobulated tubular mass along the ulnar nerve above the elbow joint. During excision under 4.5° loupe magnification, we separated three ovoid yellow-colored neurogenic tumors of different sizes, but there were still remaining lesions as it was difficult to completely separate lesions from the ulnar nerve due to the risk of iatrogenic nerve ulnar nerve injury. The operative wound was closed. Postoperative biopsy confirmed the diagnosis of the three schwannomas. During the follow-up, the patient recovered without neurological symptom or limitations in range of motion, and there were no neurological abnormalities. At 1year after surgery, small lesions remained in the most proximal part. However, the patient had no clinical symptoms and was satisfied with the surgical results. Although a long-term follow-up is necessary for this patient, we were able to obtain good clinical and radiological results.
    Keywords:  Biopsie excisionnelle; Excisional Biopsy; Membre supérieur; Multiple Schwannomas; Peripheral Nerve Sheath Tumours; Schwannomatose; Schwannomatosis; Schwannomes multiples; Tumeurs de la gaine nerveuse périphérique; Upper Extremity
    DOI:  https://doi.org/10.1016/j.anplas.2023.01.004
  13. J Pak Med Assoc. 2023 Feb;73(2): 393-395
    Malignant peripheral nerve sheath tumours in a patient with Neurofibromatosis-1.
    Fatima Iqbal, Muhammad Jamaluddin, Fakiha Bukhari, Omama Subul Islam.
      Malignant peripheral nerve sheath tumour (MPNST) is an uncommon type of soft tissue tumour which most commonly arises in the setting of Neurofibromatosis-1 (NF-1) or in the presence of another nerve sheath tumour. NF-1 is an autosomal dominant syndrome which is diagnosed based on clinical criteria. People suffering from NF-1 are at a higher risk of developing tumours, especially MPNST. MPNST can occur anywhere along the distribution of nerve roots but most commonly involves the limbs and trunk. The prognosis of MPNST in the setting of NF-1 is grave as the distant metastasis develops earlier than non-syndromic cases. Pre-operative diagnosis is difficult as there is no gold standard radiologic technique or characteristic radiological features. The diagnosis is established after histological evaluation supplemented by immunohistochemistry of the tumour tissue. We present a case of a 38-year-old female, a known case of NF-1, who presented with a single, irregular, cystic swelling in the left flank which was increasing in size. The patient underwent complete surgical excision of a 6cm tumour which was diagnosed as MPNST after histopathological examination. The rare nature of this tumour makes the diagnosis and treatment extremely hard. Awareness regarding this disease should be increased so that proper treatment plans can be made.
    Keywords:   Malignant peripheral nerve sheath tumour, Neurofibromatosis-1, Immunochemical staining, Histopathology.
    DOI:  https://doi.org/10.47391/JPMA.4612
  14. iScience. 2023 Feb 17. 26(2): 106096
    Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
    Miriam Magallón-Lorenz, Ernest Terribas, Sara Ortega-Bertran, Edgar Creus-Bachiller, Marco Fernández, Gerard Requena, Inma Rosas, Helena Mazuelas, Itziar Uriarte-Arrazola, Alex Negro, Tereza Lausová, Elisabeth Castellanos, Ignacio Blanco, George DeVries, Hiroyuki Kawashima, Eric Legius, Hilde Brems, Viktor Mautner, Lan Kluwe, Nancy Ratner, Margaret Wallace, Juana Fernández-Rodriguez, Conxi Lázaro, Jonathan A Fletcher, David Reuss, Meritxell Carrió, Bernat Gel, Eduard Serra.
      Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas of the peripheral nervous system that develop either sporadically or in the context of neurofibromatosis type 1 (NF1). MPNST diagnosis can be challenging and treatment outcomes are poor. We present here a resource consisting of the genomic characterization of 9 widely used human MPNST cell lines for their use in translational research. NF1-related cell lines recapitulated primary MPNST copy number profiles, exhibited NF1, CDKN2A, and SUZ12/EED tumor suppressor gene (TSG) inactivation, and presented no gain-of-function mutations. In contrast, sporadic cell lines collectively displayed different TSG inactivation patterns and presented kinase-activating mutations, fusion genes, altered mutational frequencies and COSMIC signatures, and different methylome-based classifications. Cell lines re-classified as melanomas and other sarcomas exhibited a different drug-treatment response. Deep genomic analysis, methylome-based classification, and cell-identity marker expression, challenged the identity of common MPNST cell lines, opening an opportunity to revise MPNST differential diagnosis.
    Keywords:  Biological sciences; Cancer; Neuroscience; Omics
    DOI:  https://doi.org/10.1016/j.isci.2023.106096
  15. Cancers (Basel). 2023 Feb 08. pii: 1077. [Epub ahead of print]15(4):
    Malignant Peripheral Nerve Sheath Tumors: Latest Concepts in Disease Pathogenesis and Clinical Management.
    Chengjun Yao, Haiying Zhou, Yanzhao Dong, Ahmad Alhaskawi, Sohaib Hasan Abdullah Ezzi, Zewei Wang, Jingtian Lai, Vishnu Goutham Kota, Mohamed Hasan Abdulla Hasan Abdulla, Hui Lu.
      Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma with limited therapeutic options and a poor prognosis. Although neurofibromatosis type 1 (NF1) and radiation exposure have been identified as risk factors for MPNST, the genetic and molecular mechanisms underlying MPNST pathogenesis have only lately been roughly elucidated. Plexiform neurofibroma (PN) and atypical neurofibromatous neoplasm of unknown biological potential (ANNUBP) are novel concepts of MPNST precancerous lesions, which revealed sequential mutations in MPNST development. This review summarized the current understanding of MPNST and the latest consensus from its diagnosis to treatment, with highlights on molecular biomarkers and targeted therapies. Additionally, we discussed the current challenges and prospects for MPNST management.
    Keywords:  atypical neurofibromatous neoplasm of unknown biological potential; malignant peripheral nerve sheath tumor; molecular diagnosis; neurofibromatosis type 1; plexiform neurofibroma; target therapy
    DOI:  https://doi.org/10.3390/cancers15041077
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