Objective: To investigate the clinicopathological, immunophenotypic, and genetic features of malignant peripheral nerve sheath tumor (MPNST). Methods: Twenty-three cases of MPNST were diagnosed at the Jiangsu Province Hospital (the First Affiliated Hospital of Nanjing Medical University), China, between January 2012 and December 2022 and thus included in the study. EnVision immunostaining and next-generation sequencing (NGS) were used to examine their immunophenotypical characteristics and genomic aberrations, respectively. Results: There were 10 males and 13 females, with an age range of 11 to 79 years (median 36 years), including 14 cases of neurofibromatosis type I-associated MPNST and 9 cases of sporadic MPNST. The tumors were located in extremities (7 cases), trunk (4 cases), neck and shoulder (3 cases), chest cavity (3 cases), paraspinal area (2 cases), abdominal cavity (2 cases), retroperitoneum (1 case), and pelvic cavity (1 case). Morphologically, the tumors were composed of dense spindle cells arranged in fascicles. Periphery neurofibroma-like pattern was found in 73.9% (17/23) of the cases. Under low magnification, alternating hypercellular and hypocellular areas resembled marbled appearance. Under high power, the tumor cell nuclei were irregular, presenting with oval, conical, comma-like, bullet-like or wavy contour. In 7 cases, the tumor cells demonstrated marked cytological pleomorphism and rare giant tumor cells. The mitotic figures were commonly not less than 3/10 HPF, and geographic necrosis was often noted. Immunohistochemically, tumor cells were positive for S-100 (14/23, 60.9%) and SOX10 (11/23, 47.8%). The loss of the CD34-positive fibroblastic network encountered in neurofibromas was observed in 14/17 of the MPNST cases. The loss of H3K27me3 expression was observed in 82.6% (19/23) of the cases. Moreover, SDHA and SDHB losses were presented in one case. NGS revealed that NF1 gene loss of function (germline or somatic) were found in all 5 cases tested. Furthermore, four cases accompanied with somatic mutations of SUZ12 gene and half of them had somatic mutations of TP53 gene, while one case with germline mutation in SDHA gene and somatic mutations in FAT1, BRAF, and KRAS genes. Available clinical follow-up was obtained in 19 cases and ranged from 1 to 67 months. Four patients died of the disease, all of whom had the clinical history of neurofibromatosis type Ⅰ. Conclusions: MPNST is difficult to be differentiated from a variety of spindle cell tumors due to its wide spectrum of histological morphology and complex genetic changes. H3K27me3 is a useful diagnostic marker, while the loss of CD34 positive fibroblastic network can also be a diagnostic feature of MPNST. NF1 gene inactivation mutations and complete loss of PRC2 activity are the common molecular diagnostic features, but other less commonly recurred genomic aberrations might also contribute to the MPNST pathogenesis.
Female ; Male ; Humans ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Neurofibrosarcoma ; Neurofibromatosis 1 ; Histones ; Genes, p53 ; Nerve Sheath Neoplasms

Malignant peripheral nerve sheath tumor (MPNST) is a rare neurogenic malignant tumor. MPNST has aty-pical clinical symptoms and imaging presentations, difficult diagnosis, a high degree of malignancy, and poor prognosis. It usually occurs in the trunk, approximately 20% in the head and neck, and rarely in the mouth. This paper reports a case of MPNST of the tongue. A summary of the clinical features, diagnosis, and treatment of MPNST is presented in combination with a literature review to provide a reference for the diagnosis and treatment of this disease.
Humans ; Nerve Sheath Neoplasms/pathology* ; Neurofibrosarcoma ; Tongue/pathology*

Humans ; Neurofibrosarcoma ; Adrenal Glands

Malignant peripheral nerve sheath tumor (MPNST) is rare, accounting for 5-10% of all soft tissue sarcomas. MPNST is characteristically aggressive and has a poor prognosis. Fifty percent of patients with MPNST have neurofibromatosis type 1 (NF1). NF-associated MPNST occurs more often at younger ages than sporadic MPNST, but the survival difference is controversial. Superficial MPNST from a recurrent neurofibroma is extremely rare and only a limited number of cases have been reported in the literature. Herein, we report an unusual case of superficial MPNST from a recurrent neurofibroma in a patient without NF1.
Abdominal Wall ; Humans ; Nerve Sheath Neoplasms ; Neurilemmoma ; Neurofibroma ; Neurofibromatoses ; Neurofibromatosis 1 ; Neurofibrosarcoma ; Peripheral Nerves ; Prognosis ; Sarcoma

The malignant peripheral nerve sheath tumor is an extremely rare soft tissue sarcoma. It is a highly malignant sarcoma, which is locally invasive, frequently leading to multiple recurrences and eventual metastatic spread. The peak incidence of disease is known to occur sporadically between the age of 20s and 50s, and is usually associated with the neurofibromatosis type I. In human body, the trunk and extremities are the most commonly involved sites, with only 8-14% of all lesions appearing in the head and neck region. We present a case of malignant peripheral nerve sheath tumor involving the right parapharynx in a 48-year-old patient who complained of headaches in the right parietal area and of dysphagia that aggravated over a month. After surgery, tumor was finally diagnosed as malignant peripheral nerve sheath tumor by histopathologic examinations. The authors report a case of malignant peripheral nerve sheath tumor in the right parapharynx with a review of the literature.
Deglutition Disorders ; Extremities ; Head ; Headache ; Human Body ; Humans ; Incidence ; Middle Aged ; Neck ; Neurilemmoma ; Neurofibromatosis 1 ; Neurofibrosarcoma ; Peripheral Nerves ; Recurrence ; Sarcoma

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.
Adult ; Biopsy ; Buttocks ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Nerve Sheath Neoplasms ; Neurilemmoma ; Neurofibromatoses ; Neurofibromatosis 1 ; Neurofibrosarcoma ; Peripheral Nerves ; Prognosis ; Recurrence

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are rare neoplasms, usually arising from somatic soft tissues or peripheral nerves. Primary MPNST of the scalp is extremely rare. The case is being reported for its rarity. METHODS: A 53-year-old female was presented with a scalp mass on vertex area. The tumor was localized in scalp skin and did not invade underlying periosteum or skull and treated with complete surgical excision followed by adjuvant chemotherapy and radiotherapy. RESULTS: Histologically, the tumor showed malignant spindle cells with focal S-100 positivity on immunohistochemistry and a diagnosis of MPNST was made. CONCLUSION: Authors experienced a rare case of primary scalp MPNST and report the case.
Chemotherapy, Adjuvant ; Diagnosis ; Female ; Humans ; Immunohistochemistry ; Middle Aged ; Neurilemmoma ; Neurofibroma ; Neurofibrosarcoma ; Periosteum ; Peripheral Nerves* ; Radiotherapy ; Sarcoma ; Scalp* ; Skin ; Skull

OBJECTIVETo investigate the clinical characteristics, diagnosis and treatment of urinary neurofibrosarcoma.

METHODSClinical data of 1 case of urinary neurofibrosarcoma was analyzed retrospectively and related literature reviewed. The 61-year old male patient had undergone TURP for benign prostate hyperplasia ten months before.

RESULTSTotal urethral cavernostomy, total cystectomy and ileal cystostomy were performed on the patient and pathological diagnosis pointed to urinary neurofibrosarcoma. Another operation was done for metastatic rectal mass, which revealed abdominal metastasis. With progressing consumptive constitution, the patient died 40 days after the second operation.

CONCLUSIONIt is difficult to make a definite diagnosis in urinary neurofibrosarcoma, and the effective treatment for this highly malignant disease needs to be further studied.

Humans ; Male ; Middle Aged ; Neurofibrosarcoma ; diagnosis ; pathology ; surgery ; Retrospective Studies ; Urethral Neoplasms ; diagnosis ; pathology ; surgery ; Urologic Surgical Procedures ; methods

Neurofibromatosis type 1, an autosomal dominant disorder, is clinically characterized by the presence of cafe-au-lait spots and cutaneous neurofibromas. Malignancy is a frequently cited and feared complication of neurofibromatosis. Neurofibromatosis has been reported to be associated with some CNS tumors, neurofibrosarcoma, pheochromocytoma, and nonlymphocytic leukemia. Also malignant lymphoma may develop in patients with neurofibromatosis. In Korea, only a case of lung cancer and a case of pheochromocytoma have been reported to develop in patients with neurofibromatosis type 1. Recently, we experienced a case of malignant lymphoma involving the stomach in a 70-year-old woman with neurofibromatosis type 1. An esophagogastroduodenoscopy revealed a 5 cm sized ulcerofungating mass on the greater curvature of the upper body. Histologic diagnosis of the biopsied specimen was B-cell diffuse small and large cell lymphoma. This case illustrates that malignant lymphoma should be included in the differential diagnosis of gastric tumors in patients with neurofibromatosis type 1.
Aged ; B-Lymphocytes* ; Cafe-au-Lait Spots ; Diagnosis ; Diagnosis, Differential ; Endoscopy, Digestive System ; Female ; Humans ; Korea ; Leukemia ; Lung Neoplasms ; Lymphoma ; Lymphoma, B-Cell* ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibrosarcoma ; Pheochromocytoma ; Stomach*

Neurofibrosarcoma is the most common malignant change in patients with neurofibromatosis. But the incidence of neurofibrosarcoma arising from cutaneous neurofibroma is very low. We report two cases of neurofibrosarcoma arising from cutaneous neurofibroma in patients with neurofibromatosis showing typical clinical manifestations.
Humans ; Incidence ; Neurofibroma* ; Neurofibromatoses* ; Neurofibrosarcoma*