Objective: To investigate the clinicopathologic and molecular genetic characteristics, diagnosis, differential diagnosis, treatment and prognosis of histiocyte-rich rhabdomyoblastic tumor (HRRMT). Methods: The clinical data of two cases of HRRMT diagnosed in Fujian Provincial Hospital and Fujian University of Traditional Chinese Medicine Affiliated People's Hospital from 2020 to 2021 were collected. Histopathology and immunohistochemical (IHC) staining were used to assess morphological changes; the genetic changes were analyzed with next-generation sequencing. The relevant literature was reviewed. Results: Both cases showed well-defined solid nodules and soft masses. Microscopically, the tumors had a fibrous pseudocapsule with lymphocytic aggregation, and locally invaded the surrounding skeletal muscle tissue, and the tumor cells were fusiform to epithelioid with an intensive foamy histiocytic infiltrate. No necrosis or mitosis was observed. Immunophenotyping showed the tumor cells were positive for desmin, either one or both skeletal muscle markers (myogenin or MyoD1), and negative for h-caldesmon, ALK and SMA. The Ki-67 index was<5%. Using next-generation sequencing, one case was found to harbour KRAS (G12D) and MSH3 (Q470^*) mutations. Conclusions: HRRMT is a newly described skeletal muscle tumor with uncertain malignant potential. Its diagnosis and differential diagnosis depend on morphologic and IHC staining. No specific molecular genetics changes have been identified so far.
Biomarkers, Tumor/analysis* ; Diagnosis, Differential ; Histiocytes/pathology* ; Humans ; Molecular Biology ; Muscle Neoplasms/pathology* ; Prognosis

Buttocks ; pathology ; Humans ; Muscle Neoplasms ; diagnosis ; Muscle, Skeletal ; pathology ; Synovitis, Pigmented Villonodular ; diagnosis

Microcystic adnexal carcinoma (MAC) was first described in 1982 by Goldstein. Considered a rare malignant skin appendageal tumor, it is often underdiagnosed due to its clinical and histopathological resemblance to other cutaneous neoplasms. MAC is locally aggressive with infiltration of perineural spaces, subcutaneous tissue, skeletal muscles, and so on. Aggressive treatment including wide local excision, Mohs micrographic surgery, or radiation therapy is necessary owing to the high recurrence rate. Herein, we report a case of a 47-year-old Korean woman with a skin-colored hardened plaque on the scalp with a clinical diagnosis of cicatricial alopecia and histopathological diagnosis of MAC. After treatment by Mohs micrographic surgery, the patient is being followed up regularly without any sign of recurrence. This case demonstrates an uncommon topography of MAC on the scalp with secondary cicatricial alopecia and highlights the need for awareness of the potential for MAC in the diagnosis of alopecia with a slow-growing tumor.
Alopecia* ; Diagnosis ; Female ; Humans ; Middle Aged ; Mohs Surgery ; Muscle, Skeletal ; Pathology ; Recurrence ; Scalp ; Skin ; Skin Neoplasms ; Subcutaneous Tissue

Biopsy ; Humans ; Male ; Middle Aged ; Muscle Neoplasms ; diagnosis ; pathology ; Neoplasm Metastasis ; Nerve Sheath Neoplasms ; diagnosis ; pathology ; Recurrence ; Sciatic Nerve ; pathology ; Tomography, X-Ray Computed

PURPOSE: Inflammation-based prognostic scores including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) are associated with oncologic outcomes in diverse malignancies. We evaluated the predictive value of pretreatment prognostic scores in differentiating nonmuscle invasive (NMIBC) and muscle invasive bladder cancer (MIBC). MATERIALS AND METHODS: Consecutive transurethral resection of bladder tumour (TURBT) cases from January 2011 to December 2013 were analysed retrospectively. Patient demographics, tumour characteristics and prognostic scores results were recorded. Receiver operating characteristics curves were used to determine prognostic score cutoffs. Univariate and multivariate binomial logistic regression analysis was performed to evaluate the association between variables and MIBC. RESULTS: A total of 226 patients were included, with 175 and 51 having NMIBC (stages Ta and T1) and MIBC (stage T2+) groups, respectively. Median age was 75 years and 174 patients were male. The NLR cutoff was 3.89 and had the greatest area under the curve (AUC) of 0.710, followed by LMR (cutoff<1.7; AUC, 0.650) and PLR (cutoff>218; AUC, 0.642). Full blood count samples were taken a median of 12 days prior to TURBT surgery. Multivariate logistic regression analysis identified tumour grade G3 (odds ration [OR], 32.848; 95% confidence interval [CI], 9.818-109.902; p=0.000), tumour size> or =3 cm (OR, 3.353; 95% CI, 1.347-8.345; p=0.009) and NLR> or =3.89 (OR, 8.244; 95% CI, 2.488-27.316; p=0.001) as independent predictors of MIBC. CONCLUSIONS: NLR may provide a simple, cost-effective and easily measured marker for MIBC. It can be performed at the time of diagnostic flexible cystoscopy, thereby assisting in the planning of further treatment.
Aged ; Aged, 80 and over ; Blood Platelets/pathology ; Carcinoma, Transitional Cell/complications/pathology/*surgery ; Female ; Humans ; Inflammation/diagnosis/*etiology ; Leukocyte Count ; Lymphocyte Count ; Male ; Muscle, Smooth/pathology ; Neoplasm Grading ; Neoplasm Invasiveness ; Neoplasm Staging ; Neutrophils/pathology ; Platelet Count ; Predictive Value of Tests ; Prognosis ; Retrospective Studies ; Urinary Bladder Neoplasms/complications/pathology/*surgery

Nodular fasciitis (NF) is a benign tumor-like fibroblastic proliferation, and there have only been few reports about NF involving the parotid gland. Here, we report our experience of three cases of NF in the parotid gland, as well as our evaluation of the diagnostic tools for NF in the parotid gland, such as fine-needle aspiration cytology (FNAC), CT, and clinicopathologic investigations. In the three cases observed, all had growing masses in the parotid gland, and the lesions showed heterogeneous or peripheral rim enhancement on the contrast-enhanced CT, which could have been misdiagnosed as parotid malignancy. On FNAC, the cells had an elongated spindle shape and contained variable amounts of stromal matrix, which could have caused misinterpreted as pleomorphic adenoma. We observed dense cellularity and varying amounts of collagenous stroma, and immunohistochemical staining revealed positive reactivity to CD10, CD34, and smooth muscle actin. NF should be considered in the differential diagnosis of benign and malignant parotid tumors.
Actins ; Adenoma, Pleomorphic ; Biopsy, Fine-Needle ; Collagen ; Diagnosis, Differential ; Fasciitis* ; Fibroblasts ; Muscle, Smooth ; Parotid Gland* ; Parotid Neoplasms ; Pathology ; Spiral Cone-Beam Computed Tomography ; Tomography, X-Ray Computed

BACKGROUND/AIMS: We investigated the electromyography (EMG) findings and demographic, clinical, and laboratory features that may predict the development of malignancy in patients with idiopathic inflammatory myopathy (IIM). METHODS: In total, 61 patients, 36 with dermatomyositis and 25 with polymyositis, were included. Patients were divided into those with and without malignancies, and comparisons were made between the groups in terms of their demographic, clinical, laboratory, and EMG findings. RESULTS: The frequencies of malignancies associated with dermatomyositis and polymyositis were 22% and 8%, respectively. Patients with malignancies showed a significantly higher incidence of dysphagia (odds ratio [OR], 21.50; 95% confidence interval [CI], 3.84 to 120.49), absence of interstitial lung disease (ILD; OR, 0.12; 95% CI, 0.01 to 0.98), and complex repetitive discharge (CRD) on the EMG (OR, 26.25; 95% CI, 2.67 to 258.52), versus those without. After adjustment for age, dysphagia and CRD remained significant, while ILD showed a trend for a difference but was not statistically significant. Multivariate analysis revealed that the CRD conferred an OR of 25.99 (95% CI, 1.27 to 531.86) for malignancy. When the frequency of malignancy was analyzed according to the number of risk factors, patients with three risk factors showed a significantly higher incidence of malignancy, versus those with fewer than two (p = 0.014). CONCLUSIONS: We demonstrated for the first time that CRD on the EMG was an additional independent risk factor for malignancy in IIM. Further studies on a larger scale are needed to confirm the importance of CRD as a risk factor for malignancy in IIM.
Action Potentials ; Adult ; Aged ; Dermatomyositis/complications/*diagnosis/physiopathology ; *Electromyography ; Female ; Humans ; Logistic Models ; Male ; Middle Aged ; Multivariate Analysis ; Muscle, Skeletal/*innervation/pathology ; Neoplasms/*etiology ; Odds Ratio ; Polymyositis/complications/*diagnosis/physiopathology ; Predictive Value of Tests ; Retrospective Studies ; Risk Factors

We performed gene expression profiling in bladder cancer patients to identify cancer-specific survival-related genes in muscle invasive bladder cancer (MIBC) patients. Sixty-two patients with MIBC were selected as the original cohort and another 118 MIBC patients were chosen as a validation cohort. The expression of USP18, DGCR2, and ZNF699 genes were measured and we analyzed the association between gene signatures and survival. USP18 and DGCR2, were significantly correlated to cancer-specific death (P=0.020, P=0.007, respectively). Cancer-specific survival in the low USP18 or DGCR2 expression group was significantly longer than the high expression group (P=0.018, P=0.006, respectively). In multivariate Cox regression analysis, a combination of USP18 and DGCR2 mRNA expression levels were significant risk factors for cancer-specific death (HR, 2.106; CI, 1.043-4.254, P=0.038). Overall survival and cancer-specific survival rates in the low-combination group were significantly longer than those in the high-expression group (P=0.001, both). In conclusion, decreased expressions of USP18 and DGCR2 were significantly associated with longer cancer-specific survival, and also the combination of two genes was correlated to a longer survival for MIBC patients. Thus, the combination of USP18 and DGCR2 expression was shown to be a reliable prognostic marker for cancer-specific survival in MIBC.
Adult ; Aged ; Aged, 80 and over ; Biological Markers/metabolism ; Carrier Proteins/genetics/metabolism ; Endopeptidases/genetics/*metabolism ; Female ; Gene Expression Profiling ; Humans ; Kaplan-Meier Estimate ; Male ; Middle Aged ; Muscle Neoplasms/*secondary ; Neoplasm Invasiveness ; Neoplasm Staging ; Platelet Glycoprotein GPIb-IX Complex/genetics/*metabolism ; Predictive Value of Tests ; ROC Curve ; Regression Analysis ; Risk Factors ; Urinary Bladder Neoplasms/*diagnosis/metabolism/*mortality/pathology

OBJECTIVETo study the clinicopathologic features, immunophenotype, histological diagnosis and prognosis of hepatic epithelioid angiomyolipoma.

METHODSClinical data of 25 cases of hepatic epithelioid angiomyolipoma were collected along with follow-up study of the patients. The pathological features were documented and immunohistochemical study of various markers was performed with an emphasis on diagnosis and differential diagnosis.

RESULTSHepatic epithelioid angiomyolipoma was more commonly found in young women without characteristic clinical symptoms. Its morphological features were characterized by marked cytological atypia, relatively rare mitotic figures; radial distribution of tumor cells around the thin-walled blood vessels or muscular vessels; and the presence of common multinucleated giant cells and large ganglion-like tumor cells. The tumor cells expressed both melanoma cell markers (HMB45, MART-1) and smooth muscle cell markers (SMA). Tumor cells expressed various other markers including ER 16% (4/25), PR 32% (8/25), TFE3 24% (6/25) and p53 60% (15/25).

CONCLUSIONSHepatic epithelioid angiomyolipoma has variable morphological features and characteristic immunohistochemical phenotype. The differential diagnoses include a variety of tumors. The biological behavior of the tumor tends to be benign.

Age Factors ; Angiomyolipoma ; genetics ; immunology ; metabolism ; pathology ; Biomarkers, Tumor ; metabolism ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Gastrointestinal Neoplasms ; Giant Cells ; pathology ; Humans ; Immunohistochemistry ; Immunophenotyping ; Liver Neoplasms ; genetics ; immunology ; metabolism ; pathology ; MART-1 Antigen ; metabolism ; Melanoma-Specific Antigens ; metabolism ; Muscle, Smooth ; metabolism ; Prognosis

Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Inflammation ; pathology ; Neoplasms, Muscle Tissue ; diagnosis ; pathology ; surgery ; Prognosis