Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malignant peripheral nerve sheath tumors (MPNSTs) are highly aggressive soft tissue sarcomas accounting for 3%-10% of all soft tissue sarcomas. Neurofibromatosis type 1 (NF1) is the most important known risk factor. MPNSTs are often diagnosed at an advanced stage when distant metastases have developed. Although surgical resection remains the main treatment for MPNSTs, complete surgical resection is rarely possible. The prognosis for patients with MPNSTs is poor. There is an urgent need for improved therapies. To this end, we investigated whether microRNA (miR), specifically miR-204, might be implicated in MPNSTs because it is located at a cancer-associated genomic region exhibiting high frequency of loss of heterozygosity in tumors. We show that miR-204 expression is downregulated in NF1 and non-NF1 MPNST tumor tissues and in tumor cell lines. Restoring miR-204 expression in MPNST cell lines STS26T (non-NF1), ST88-14 (NF1), and T265p21 (NF1) significantly reduces cellular proliferation, migration, and invasion in vitro. Restoring miR-204 expression in STS26T decreases tumor growth and malignant progression in vivo. We also report that miR-204 inhibits Ras signaling and expression of high mobility group gene A2. These findings support the hypothesis that miR-204 plays critical roles in MPNST development and tumor progression. miR-204 may represent a novel biomarker for diagnosis and a candidate target with which to develop effective therapies for MPNSTs.
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PMID:MicroRNA-204 critically regulates carcinogenesis in malignant peripheral nerve sheath tumors. 2271 95

Primary chest wall tumors are uncommon and constitute 0.2-2% of all tumors. Metastatic tumors and tumors of local extension are more common. Malignant peripheral nerve sheath tumor (MPNST) of the chest wall is even rarer and its incidence on the chest wall not stated in the literature. The incidence in the general population is 0.0001% while the risk is approximately 4600 times higher in patients with type I neurofibromatosis and 3-13% of them will finally develop into MPNST, usually after latent periods of 10-20 years. Clinically, these tumors are aggressive, locally invasive, and highly metastatic. Excision of giant chest wall tumor leaves a defect that is reconstructed using musculocutaneous flaps with or without a mesh. We report the case of a 24-year-old man who presented at the surgical outpatient clinic with 7 months history of persistent left sided chest pain minimally relieved by analgesics, 5 months of cough and worsening dyspnoea, and 3 months history of anterior chest swelling on the left side of the manubrium. Following evaluation and investigations, the tumor was excised and the residual defect closed with methylmetacrylate sandwiched between two prolene meshes and overlaid with both pectoralis major muscles. The histology of the excised mass revealed MPNST He made an uneventful postoperative recovery, but died barely 3 months later from widespread pulmonary metastases. A review of the literature revealed that such tumors hardly ever reach such large-size as in our case.
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PMID:Reconstruction of the chest wall after excision of a giant malignant peripheral nerve sheath tumor. 2323 3

Malignant peripheral nerve sheath tumors (MPNSTs) are malignant tumors with a high rate of local recurrence and a significant tendency to metastasize. Its dismal outcome points to the urgent need to establish better therapeutic strategies for patients harboring MPNSTs. The investigations of genomic and molecular aberrations in MPNSTs which detect many chromosomal aberrations, pathway abnormalities, and specific molecular aberrant events would supply multiple potential therapy targets and contribute to achievement of personalized medicine. The involved genes in the significant gains aberrations include BIRC5, CCNE2, DAB2, DDX15, EGFR, DAB2, MSH2, CDK6, HGF, ITGB4, KCNK12, LAMA3, LOXL2, MET, and PDGFRA. The involved genes in the significant deletion aberrations include CDH1, GLTSCR2, EGR1, CTSB, GATA3, SULT2A1, GLTSCR2, HMMR/RHAMM, LICAM2, MMP13, p16/INK4a, RASSF2, NM-23H1, and TP53. These genetic aberrations involve in several important signaling pathways such as TFF, EGFR, ARF, IGF1R signaling pathways. The genomic and molecular aberrations of EGFR, IGF1R, SOX9, EYA4, TOP2A, ETV4, and BIRC5 exhibit great promise as personalized therapeutic targets for MPNST patients.
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PMID:Genomic and molecular aberrations in malignant peripheral nerve sheath tumor and their roles in personalized target therapy. 2383 Mar 51

Malignant peripheral nerve sheath tumors are soft tissue neoplasms that show differentiation toward cells of the nerve sheath. They often arise from peripheral nerves or preexisting benign nerve sheath tumors and are generally high-grade neoplasms, which behave aggressively with high incidence of distant metastases. Malignant peripheral nerve sheath tumor can be histologically diverse and is difficult to diagnose because of its morphological overlap with a variety of other sarcomas and its lack of specific immunohistochemical markers or genetic profile. We review the pathology of malignant peripheral nerve sheath tumor, with reference to etiology, molecular genetics, and clinical factors.
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PMID:Malignant peripheral nerve sheath tumor: pathology and genetics. 2441 43

Purpose. Malignant peripheral nerve sheath tumors (MPNSTs) are rare in children and account for approximately 5-10% of all soft tissue sarcomas in adults. MPNSTs may occur independently but individuals with neurofibromatosis type 1 (NF1) have a significantly increased risk. Our aim is to present patients with MPNST treated in our department. Cases and Results. In this report we present 4 cases of MPNSTs (3 females: 13, 12, and 13 years old and 1 male: 10 years old) arising in patients with NF1. All of them presented with an enlarging mass and pain at diagnosis. Tumor was located in the buttock, the spinal cord, the trunk, and the left leg proximal to the heel. Wide excision of the tumor and radiotherapy were applied to all and adjuvant chemotherapy was given to three of them after the disease was progressed. All four died 32, 18, 10, and 22 months after diagnosis with progressive disease locally and pulmonary metastases in two of them. Conclusions. In conclusion, MPNSTs arising in patients with NF1 are high grade sarcomas with short survival. Individuals with NF1 should be followed closely in order to identify early the development of MPNSTs. Aggressive surgery and complete excision significantly improves disease-free survival. The usefulness of radiation therapy in MPNSTs is not determined although all patients will receive radiation therapy at some stage of the disease. The role of chemotherapy is unclear.
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PMID:Malignant peripheral nerve sheath tumors in children with neurofibromatosis type 1. 2531 49

Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that originate from a peripheral nerve or neurofibroma either spontaneously or in association with neurofibromatosis type 1. MPNSTs account for approximately 5% of all soft tissue malignancies. The tumor is commonly seen in the extremities and trunk. Most of these tumors are high-grade with the potential to recur and metastasize. Common metastatic sites include the lungs, bone, and pleura. Primary intraosseous MPNST is rare, and the diagnosis of intraosseous MPNST, especially in an unusual location is difficult because of its cellular origin, histomorphological similarities with other sarcomas, and bone is the most common site for metastasis. We report an unusual case of MPNST of the calcaneus in a young male.
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PMID:Intraosseous primary malignant peripheral nerve sheath tumor of the calcaneus: an unusual case and review of literature. 2588 39

OBJECTIVE Malignant peripheral nerve sheath tumors (MPNSTs) of the eighth cranial nerve (CN) are exceedingly rare. To date the literature has focused on MPNSTs occurring after radiation therapy for presumed benign vestibular schwannomas (VSs), while MPNSTs arising without prior irradiation have received little attention. The objectives of the current study are to characterize the epidemiology, clinical presentation, disease course, and outcome using a large national cancer registry database and a systematic review of the English literature. Additionally, a previously unreported case is presented. METHODS The authors conducted an analysis of the Surveillance, Epidemiology, and End Results (SEER) database, a systematic review of the literature, and present a case report. Data from all patients identified in the SEER database with a diagnosis of MPNST involving the eighth CN, without a history of prior radiation, were analyzed. Additionally, all cases reported in the English literature between January 1980 and March 2015 were reviewed. Finally, 1 previously unreported case is presented. RESULTS The SEER registries identified 30 cases between 1992 and 2012. The average incidence was 0.017 per 1 million persons per year (range 0.000-0.0687 per year). The median age at diagnosis was 55 years, and 16 (53%) were women. Thirteen cases were diagnosed upon autopsy. Of the 17 cases diagnosed while alive, the median follow-up was 118 days, with 3 deaths (18%) observed. When compared with the incidence of benign VS, 1041 VSs present for every 1 MPNST arising from the eighth CN. Including a previously unreported case from the authors' center, a systematic review of the English literature yielded 24 reports. The median age at diagnosis was 44 years, 50% were women, and the median tumor size at diagnosis was 3 cm. Eleven patients (46%) reported isolated audiovestibular complaints typical for VS while 13 (54%) exhibited facial paresis or other signs of a more aggressive process. Treatment included microsurgery alone, microsurgery with adjuvant radiation, or microsurgery with chemoradiation. Sixty-one percent of patients receiving treatment experienced recurrence, 22% of which were diagnosed with drop metastases to the spine. Ultimately, 13 patients (54%) died of progressive disease at a median of 3 months following diagnosis. The ability to achieve gross-total resection was the only feature that was associated with improved disease-specific survival. CONCLUSIONS MPNSTs of the eighth CN are extremely rare and portend a poor prognosis. Nearly half of patients initially present with findings consistent with a benign VS, often making an early diagnosis challenging. In light of these data, early radiological and clinical follow-up should be considered in those who elect nonoperative treatment, particularly in patients with a short duration of symptoms or atypical presentation. These data also provide a baseline rate of malignancy that should be considered when estimating the risk of malignant transformation following stereotactic radiosurgery for VS.
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PMID:Malignant peripheral nerve sheath tumors of the eighth cranial nerve arising without prior irradiation. 2674 87

Malignant peripheral nerve sheath tumors (MPNSTs) are extremely uncommon neoplasms, predominantly seen within the deep soft tissues of the extremities, in close proximity to the nerve trunks. Retroperitoneal MPNSTs are exceedingly rare, usually seen in association with neurofibromatosis type 1 (NF-1), and often result from malignant degeneration of a plexiform neurofibroma. These tumors are highly malignant and the prognosis is worsened if they occur in association with NF-1. Metastasis is not uncommon, but local invasion by these tumors is rarely reported. Renal artery pseudoaneurysms are mostly iatrogenic and rarely result from invasion by retroperitoneal neoplasms. Ultrasonography is a valuable tool in early diagnosis of these neoplasms and vascular complications, particularly in emergency cases requiring immediate operative intervention. To the best of our knowledge, no case of renal artery pseudoaneurysm caused by retroperitoneal MPNST has been reported to date. We present a case of a middle-aged female with Von Recklinghausen disease, complaining of sudden onset of severe abdominal pain, where ultrasound accurately diagnosed renal artery pseudoaneurysm caused by a large retroperitoneal MPNST, and who was later treated by radical excision of the tumor and nephrectomy.
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PMID:Role of ultrasonography in detection of renal artery pseudoaneurysm caused by retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1. 2727 39

Malignant peripheral nerve sheath tumor (MPNST) is a term encompassing tumors previously diagnosed as malignant schwannoma, malignant neurilemmoma, neurogenic sarcoma, and neurofibrosarcoma The occurrence rate of MPNST in neurofibromatosis type 1 patients is known to be about 4.6%. Tumors occurring in this particular group have a worse prognosis in that they occur at an earlier age, are more centrally located, tend to be of a larger size and show more metastases and recurrences. We present a typical case of MPNST in a 36-year-old man with NF type 1, which occurred on the left buttock. A PET-CT showed findings of possible inguinal lymph node metastasis and a lymph node biopsy confirmed the diagnosis. The patient was treated with wide surgical resection and is undergoing adjuvant radiation therapy.
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PMID:A Case of Malignant Peripheral Sheath Tumor Arising from Neurofibromatosis Type 1. 2730 56

Malignant peripheral nerve sheath tumors (MPNSTs) are extremely rare soft tissue sarcomas of ectomesenchymal origin. They are commonly seen in association with neurofibromatosis type 1 (NF-1), but can also occur without a history of NF (isolated MPNST). MPNSTs are most commonly located on the extremities (brachial and sacral plexus), head and neck, and trunk regions and are rarely reported in genitourinary organs. These tumors are aggressive, with a high recurrence rate and distant metastases. MPNST involving the kidney is extremely rare, and review of the literature using PubMed from 2001 to 2014 revealed eight cases of MPNST involving the kidney (seven, primarily involving the kidney and one metastatic MPNST of the kidney). Herein, we describe a case of breast metastases from an MPNST of the kidney without a history of NF-1. The patient was initially diagnosed with a spindle cell neoplasm of the kidney with peripheral nerve sheath differentiation. Eventually, the patient developed a right breast mass that was diagnosed as metastatic MPNST. The patient refused any kind of treatment and died 6 months later in hospice care.
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PMID:Breast metastases from a malignant peripheral nerve sheath tumor of the kidney: An unusual presentation. 2745 70


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