A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report.

BACKGROUND: Malignant perivascular epithelioid cell tumors (PEComas) are exceedingly rare malignant mesenchymal neoplasms with characteristic morphological and immunohistochemical (IHC) patterns. However, some malignant PEComas are poorly differentiated with atypical histopathological features, making a definitive diagnosis difficult. PEComas are most commonly found in females and often show either TSC1 or TSC2 alterations, which result in the activation of the mTOR pathway, or TFE3 fusions. Given these molecular characteristics, mTOR inhibitors have recently been approved by the FDA in the treatment of malignant PEComas, particularly in those with TSC1/2 alterations. Therefore, molecular analyses may be helpful for both the diagnostic workup of and predicting response to mTOR inhibitors in cases of malignant PEComas. CASE PRESENTATION: Here, we report a case of an aggressive, 23 cm mesenteric malignant PEComa with multiple peritoneal metastases in a young male patient. Pathological examination of the initial biopsy showed a malignant epithelioid neoplasm with high-grade morphology and atypical immunoprofile, which precluded a definitive diagnosis. Because of the patient's excessive transfusion requirements due to intra-tumoral hemorrhage, a palliative R2 resection was performed. Histopathological examination of the tumor revealed focal immunoreactivity for Melan-A, HMB-45, desmin, and CD117. Although a diagnosis of malignant PEComa was favored, other entities such as epithelioid gastrointestinal stromal tumor (GIST) or melanoma could not be definitively ruled out. Given the favored diagnosis, the patient was started on sirolimus, an mTOR inhibitor, rather than chemotherapy. Molecular analyses were performed and the tumor was found to harbor mutations in TP53 and TSC2, supporting a definitive diagnosis of malignant PEComa. The patient was then switched to nab-sirolimus, with initial stabilization of the disease. CONCLUSIONS: This report details a multidisciplinary approach for the diagnosis and management of a highly aggressive, metastatic malignant PEComa in a young male patient. The basis for the treatment of malignant PEComas with the recently FDA-approved mTOR inhibitor, nab-sirolimus, is also reviewed. In summary, this case highlights the importance of molecular analysis, particularly TSC1/2 alterations, for both the definitive diagnosis of malignant PEComas and predicting their response to nab-sirolimus.

Morphological and Morphometric Analysis of the Orbital Aperture and Their Correlation With Age and Gender: A Retrospective Digital Radiographic Study.

Purpose Precise knowledge about clinically observed bony orbital aging is needed for surgical planning for acceptable cosmetic results. The effect of age and gender on the facial skeleton and orbital aperture has been appreciated earlier, but its quantification remains ignored. The purpose of this study was to evaluate age- and sex-related changes in the shape of the orbital aperture and construct a reference data set for the aging phenomenon in Indians. Methods Two hundred digital radiographs (Water's/frontal view) of the skull, obtained for various reasons, were evaluated. The radiographs comprised 107 males and 93 females aged between 10 and 60 years (10-59 years). Orbital shape, height/width, and interorbital/biorbital distances were noted, and orbital indices (OIs) were calculated. Orbital parameters thus obtained were compared between right and left sides and males and females. The relation of the parameters with age and gender was analyzed. Results Four types of orbits, round (33.5%), elliptical (30.5%), rectangular (27.5%), and square (9.5%), were noted in the study population. The average value of height and width of the right orbit was found to be higher than that of the left (p > 0.05). Male patients had higher (p > 0.05) and wider (p > 0.05) orbits than females. The right OI (81.55 ± 5.30) was higher than the left (80.75 ± 4.80) (p > 0.05). When comparatively evaluated between gender, both orbits were found to be of the microseme type with a mere difference (p > 0.05). The average interorbital/biorbital distance was 1.27 ± 2.11 and 9.78 ± 4.40 cm, respectively, without any gender difference. No significant relation was found between the age change and the parameters defined (p > 0.05), except in one age group (10-19 years). Conclusions Orbital dimensions showed no association with age and gender except in one age group (10-19 years); a pubertal growth spurt in females might be causing this phenomenon. The morphometric data may be useful in forensic anthropology and better planning for reconstructive surgeries in the orbito-maxillary region.

Analysis of multiple variations in azygos venous system anatomy with its classification: A cadaveric study

The azygos venous system varies greatly in mode of its origin, course, number of vertical channels, number of horizontal anastomoses and nature of termination. Anatomical knowledge of such variations is of immense importance in radiological investigations and surgical intervention of posterior mediastinum pathologies. The present study was undertaken on 30 adult embalmed cadavers aging between 40-65 years, to determine the anatomical variations of the azygos system and to classify accordingly. The vertebral level and diameter of the azygos, hemiazygos, accessory hemiazygos veins at their origin and terminations were also observed. The azygos system was classified into 3 types as per the Anson & McVay system: primitive (type I), transient (type II) and unicolumnar (type III). Type II was further subdivided into 5 subgroups (A to E) according to the number of retroaortic communications. Type I was observed in 1 case (3.33%), type II in 27 (90%) and type III in remaining 2 cases (6.67%). The vertebral level of termination of the azygos, hemiazygos, accessory hemiazygos veins were between T2 and T3, T6 and T10, T6 and T9 respectively. Variations in the formation of azygos system is not an uncommon phenomenon and these variations may easily mislead the radiologists while performing CT/MRI of posterior mediastinum or cardiothoracic surgeons while performing vascular surgeries in this region

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Bifid inverted palmaris longus muscle - a case report

A bifid inverted Palmaris longus muscle was identified during routine cadaveric dissection while teaching undergraduate students. The muscle belonged to the right forearm of a 54-year-old male cadaver, and had a tendinous origin from the medial epicondyle of the humerus. Distally the muscle passed superficial to flexor retinaculum and bifurcated into a muscular slip and a fascial slip. The muscular slip further descended down and became continuous with the hypothenar muscle and the fascial slip inserted into palmar aponeurosis. The total length of the inverted palmaris longus muscle till bifurcation was 28.0 cm. The length of the muscular slip of the insertion was 2.6 cm, and the length of the fascial slip of the insertion was 3.1cm. Such anatomic variation can lead to compression of the median and ulnar nerves

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