ABSTRACT
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.
Subject(s)
Female , Male , Humans , Child , Adolescent , Young Adult , Adult , Middle Aged , Aged , Neurofibrosarcoma , Neurofibromatosis 1 , Histones , Genes, p53 , Nerve Sheath NeoplasmsABSTRACT
Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of ectopic meningothelial hamartoma (EMH). Methods: Three cases of EMH diagnosed in the First Affiliated Hospital of Nanjing Medical University from January 2014 to December 2020 were enrolled. All cases were evaluated by clinical and imaging features, HE and immunohistochemical staining, and the relevant literature was reviewed. Results: There were one male and two female patients, aged 2, 67 and 19 years, respectively. Clinically, they presented as skin masses in the head and face region (two cases) and sacro-coccygeal region (one case). Grossly, the lesions ranged in size from 1.6 cm to 8.9 cm. Microscopically, the lesions were ill-defined, and located in the dermis and subcutis, and showed pseudovascular channels lined by monolayer of cuboidal to flattened epithelium with mild atypia, with variable cystic cavity formation. There was prominent interstitial fibrosis. Concentric, lamellated, onion skin-like arrangement with short spindle or ovoid cells and psammoma bodies were noted. Immunohistochemically, these cells were strongly positive for SSTR2, EMA, vimentin and progesterone receptor. Ki-67 positive index was low, approximately 1%. Conclusions: EMH is uncommon. Definitive diagnosis relies on histopathologic examination. The importance in recognizing the lesions is to differentiate from other more aggressive tumors.
Subject(s)
Female , Humans , Male , Choristoma/pathology , Diagnosis, Differential , Hamartoma/pathology , Meninges , Skin Diseases/pathologyABSTRACT
Purpose To evaluate the effects of double stai-ning of elastic fibers and broad-spectrum keratin and simple e-lastic fiber staining in pleural invasion of lung cancer. Methods The pathological data of lung cancer from June 2015 to July 2016 in Jiangsu Province Hospital were retrospectively analyzed, of which 104 cases presented with suspected pleural invasion by HE staining. Double staining of elastic fibers and broad-spec- trum keratin and simple elastic fiber staining were adopted to compare their effects for pathological analysis on pleural invasion of lung cancer. Results 46 patients with positive pleural inva-sion were reported by simple elastic fiber staining, whereas 63 patients with positive pleural invasion were detected by double staining. The positive rate of double staining was 60. 58% , however the positive rate of simple elastic fiber staining was 44. 23% . The ability of double staining on detection of pleural invasion was significantly higher than simple elastic fiber stai-ning. Furthermore, following pathological analysis revealed that patients with contradictory results using double staining and sim-ple staining were mostly diagnosed by presence of single or sever-al broad-spectrum keratin-positive tumor cells which invaded the pleura. Conclusion Compared with simple elastic fiber stai-ning, double staining of elastic fibers and broad-spectrum keratin combines the advantages of these two methods, which can simul- taneously visualize the pleural and tumor cells, so as to better observe the adjacent relationship between tumor cells and sur-rounding pleura. Double staining of elastic fibers and broad-spectrum keratin is an efficient method for pathological diagnosis and benefit to following clinical treatment of patients with positive pleural invasion of lung cancer.
ABSTRACT
<p><b>OBJECTIVE</b>To clarify the clinical and morphological features of adult prostate sarcoma (APS) and to further improve the knowledge and diagnostic accuracy for APS.</p><p><b>METHODS</b>Fifteen cases of APS were observed and analyzed on the clinical symptom, pathological features, treatment and prognosis.</p><p><b>RESULTS</b>Age of onset ranged from 22 to 77 years (mean 46.3 years). The majority of cases were presented with dysuresia. By digital rectal examination and imaging of the prostate, APS was often identified as a large tumor mass. There were 6 cases of leiomyosarcomas, 6 embryonal rhabdomyosarcomas, and 3 fibrosarcomas in this series. Follow-up data were available for 12 cases: 7 cases died of the disease between 9 days and 360 days after surgery. Among 5 survived patients, 3 cases had recurrence after 2 to 24 months follow-up.</p><p><b>CONCLUSIONS</b>APS is a rare tumor that typically has clinical features: earlier age of onset, fast-appeared urinary tract symptoms, significant mass effects, and poor outcome. Level of prostate specific antigen (PSA) is usually normal or lower. Final diagnosis relies on the features of histology and immunohistochemistry expression profile.</p>