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A 7-year-old Chinese girl presented to a local hospital with a 5-day history of progressive right-sided hemiplegia, expressive aphasia, mild bulbar palsy, and reduced general responsiveness. At presentation, her Glasgow Coma Scale was 11/15 (E4 V1M6). Notably, she had two strokelike episodes approximately 7 and 3 months prior to the current episode, with headache, reduced movement, and numbness in the left hand. She also had an extensive medical history at a young age, including congenital mydriasis, patent ductus arteriosus with ligation, dysautonomia, low blood pressure, hypotonic bladder requiring intermittent catheterization, poor bowel transit, and gallstones. Her immunization record was up to date, and her development was otherwise unremarkable. Her parents and younger sibling were healthy. Her blood tests revealed a mildly increased venous lactate level at 2.3 mmol/L (normal range, 0.7-2.1 mmol/L), without acidosis. Results of a coagulopathy work-up (clotting profile and protein C, protein S, antithrombin 3, and fibrinogen levels) were normal. MRI and MR angiography of the brain were performed at presentation.

We present a case of uterine dedifferentiated leiomyosarcoma in a 42-yr-old woman who presented with severe abdominal pain and vaginal bleeding. The mass measured 10.5 cm. The \"differentiated\" tumor component ranged from leiomyoma-like areas to smooth muscle tumor of uncertain malignant potential to frank leiomyosarcoma. The undifferentiated tumor component showed extreme hypercellularity, intermediate to large polygonal cells, with significant cytologic atypia and numerous mitotic figures (67 mitotic figures per 10 high-power fields). This undifferentiated component imperceptibly blended into more recognizable smooth muscle areas. In contrast to the differentiated component, the undifferentiated component lacked staining for smooth muscle markers. Targeted next-generation sequencing revealed TP53 , NF1 , and NOTCH2 mutations in both differentiated and undifferentiated components. In addition, the undifferentiated tumor component also harbored multiple additional chromosomal abnormalities including gains in 1q, 22q, and copy number losses in 3p, 9p, and 11q. The undifferentiated tumor component was also identified in an adhesion involving the small bowel and omentum at complete staging. The patient was subsequently treated with 6 cycles of adriamycin chemotherapy. Computerized tomography scan after 3 cycles showed no residual disease. Published literature regarding dedifferentiated leiomyosarcoma is reviewed.

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Fibroadenoma and phyllodes tumor are the prototypical mammary fibroepithelial lesions (FELs). Recently, a subset of FELs, identified as stromal-epithelial lesion (SEL) with myofibroblastic stroma have been labelled as myofibroepithelial nodule (MFN). The MFN stromal cells are diffusely positive for SMA immunostaining and frequently show unusual histological features including irregular borders. There is limited literature on FELs with myofibroblastic or smooth muscle stroma. The etiology of the variation in the FEL stromal histology and its clinical significance is unknown. In this short report we describe clinicopathologic features of six FELs with myofibroblastic and/or smooth muscle stroma. We also report immunohistochemical overexpression of HMGA2 in 2 FELs that contained stromal smooth muscle differentiation suggesting a link to mammary myoid hamartoma. On limited follow up all the 6 FELs with myofibroblastic or smooth muscle stroma had benign outcome. The HMGA2 overexpressing FEL with smooth muscle stroma and myoid hamartoma of the breast show overlapping etiology, and histological features.

OBJECTIVE: The aim of this study was to describe a novel presentation of conjunctival smooth muscle hamartoma and review the histopathologic findings of this entity.
METHODS: A 17-year-old African American adolescent boy presented with a pink, nontender lesion of the right bulbar conjunctiva that did not improve with medical management. He had no previous medical or ocular history. The lesion was excised.
RESULTS: Histopathologic examination disclosed morphologically benign smooth muscle bundles within the substantia propria that stained positively for smooth muscle actin, vimentin, and desmin consistent with the diagnosis of a smooth muscle hamartoma.
CONCLUSIONS: Although congenital smooth muscle hamartomas of the conjunctiva have been rarely reported in the literature, this is the first described case of a smooth muscle hamartoma presenting in adolescence in the bulbar conjunctiva. This lesion should be considered in the differential diagnosis for adolescents with similar appearing lesions.

Fetal megacystis, or an enlarged fetal bladder, is most often attributed to embryological defects, occurring early in gestation. Recent investigations have demonstrated that the underlying etiology of megacystis may be more myriad than originally thought. We present the third reported patient with megacystis due to an ACTA2 Arg179 substitution variant causing Multisystemic Smooth Muscle Dysfunction Syndrome. We also provide a description of pediatric evaluation and follow up. The growing number of cases in which this ACTA2 variant has been identified in fetal megacystis suggests that molecular sequencing is an appropriate consideration, particularly prenatally, when other features of Multisystemic Smooth Muscle Dysfunction Syndrome cannot be detected.

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BACKGROUND: Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disease that affects multiple organs. The report here concerns a patient with MSMDS, who is known so far as the youngest among all the reported patients. In addition to the typical manifestations, we observed previously unreported ocular abnormalities, including persistent anterior tunica vasculosa lentis (TVL) and early-onset retinal arteriolar tortuosity, by the fluorescein angiography (FA).
METHODS: The patient was admitted to the neonatal intensive care unit immediately after birth for a diagnosis of urinary system dysplasia during fetal life. After a thorough examination, the patient was found with patent ductus arteriosus, pulmonary hypertension, cerebrovascular disease, hypotonic bladder, intestinal malrotation, and congenital mydriasis. The FA of the eyes undertaken in her 6-week demonstrated perfused vasculature in the persistent anterior TVL and prominent retinal arteriolar tortuosity. The whole exome sequencing revealed a de novo heterozygous ACTA2 gene missense mutation p.R179H.
METHODS: The patient was diagnosed with MSMDS.
METHODS: Follow-up observation.
RESULTS: At the 3-month follow-up, no change of the ocular disease was observed.
CONCLUSIONS: The persistent anterior TVL in this case implies that ACTA2 p.R179H mutation affects not only the smooth muscle cells but also the pericytes, and further affects the TVL regression. The prominent retinal arteriolar tortuosity in this 6-week-old infant indicates that the retinal arteriolar tortuosity can present early in MSMDS.