scholarly journals Cytomorphologic findings of SMARCA4-deficient thoracic sarcoma/carcinoma: Report of two cases

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S39-S39
Author(s):  
A K Abu-Salah ◽  
S Segura ◽  
H M Cramer

Abstract Introduction/Objective SMARCA4-deficient thoracic sarcoma/carcinoma is a highly aggressive neoplasm characterized by SMARCA4 (chromatin remodeling complex) deficiency. It affects mostly smokers (85%) with a broad age range of presentation (mean age: 50 years). Most patients present with advanced disease and extensive involvement of thoracic structures. The cytomorphologic features of this entity have not been fully described. Methods/Case Report A 59-year-old female, former smoker, with a prior history of lung adenocarcinoma, presented with a new 2.8 cm right infrahilar nodule concerning for recurrence. The second patient, a 54-year-old male who is a smoker, presented with an 8.0 cm right perihilar mass extending into the right lung and mediastinum with encasement of the right main pulmonary artery. Cytologically, the smears from both aspirates were comprised of single cells and loosely cohesive clusters of ovoid to spindle cells with scant to moderate cytoplasm, stippled chromatin, and focally prominent nucleoli. Numerous mitotic figures were appreciated. Necrosis was present within the smear background. The cell block sections showed tumor cells arranged in glandular and focal papillary architecture with a myxoid background. In one case, intermediate to large-sized cells with focal cytoplasmic clearing and patchy extracellular metachromatic material were also noted. Rhabdoid morphology was not appreciated. Immunohistochemically, the tumor cells were at least focally positive for vimentin, TLE-1, SALL4, CK AE1/AE3 and TTF-1, while being negative for CK7, CK20, Napsin-A, SOX-10, p40 and neuroendocrine markers. Both tumors showed SMARCA4 (BRG1) loss of expression. Results (if a Case Study enter NA) N/A Conclusion While the cytomorphologic findings of SMARCA4-deficient thoracic sarcomas/carcinomas are not specific, the FNA diagnosis should be considered for any poorly differentiated neoplasm involving the lungs or mediastinum which should prompt an appropriate immunocytochemical work-up that includes SMARCA4/BRG1 assessment

2021 ◽  
Vol 2 (4) ◽  
pp. 01-03
Author(s):  
Chukwubuike Kevin Emeka

Background: Testicular torsion is a urological emergency in which there is a race against time to salvage the testis. The aim of this study was to evaluate our experience in the management of children who presented with acute testicular torsion. Materials and Methods: This was a retrospective study of children aged 15 years and below who had surgery for acute testicular torsion between January 2013 and December 2017 at the pediatric surgery unit of a teaching hospital in Enugu, Nigeria. Results: Sixty-four children were managed during the study period. The ages of the patients ranged from 2 months to 14 years with a median of 6 years. The right testis was mostly affected and the mean duration from the onset of symptom to presentation was 4 hours. All the patients presented with testicular pain and half of the patients had a prior history of intermittent testicular pain. Four (6.3%) patients had a history of trauma precipitating the testicular torsion and 3 (4.7%) patients had undescended testis. Detorsion and Orchidopexy was the most performed surgical procedure and wound infection was the most common post-operative complication. There was no mortality. Conclusion: Testicular torsion is not uncommon in children and may be associated with testicular loss. The right testis is mostly involved in children. Prior history of intermittent testicular pain, trauma and undescended testis are important considerations. Prompt detorsion and orchidopexy remains the cornerstone of treatment.


1996 ◽  
Vol 110 (2) ◽  
pp. 192-195 ◽  
Author(s):  
Thomas W. Mesko ◽  
Julie Friedman ◽  
Harry Sendzischew ◽  
Daniel D. Nixon

AbstractClinically evident metastases to the thyroid gland are rarely found antemortem. A case of a 59-year-old woman with a history of rectal carcinoma, who presented with low back pain and a mass in the right lobe of her thyroid gland, is presented. The tumour of the thyroid was found to be metastatic adenocarcinoma from her previous rectal cancer. Other synchronous metastases were noted in her lumbar spine and kidneys.The clinical finding of metastases to the thyroid gland is rare, particularly from a colorectal primary. One must consider, however, the possibility of a tumour of the thyroid gland representing a secondary malignancy in any patient with a prior history of cancer.


2020 ◽  
Vol 2020 (7) ◽  
Author(s):  
Paul Burchard ◽  
Alan A Thomay

Abstract A 53-year-old Caucasian male presented with a 2-week history of abdominal distension, pain, nausea and lethargy. His symptoms began 1 day after an all-terrain vehicle accident during which he suffered blunt-force trauma to his mid-right abdomen. CT scan demonstrated abnormal thickening of the ascending colon and terminal ilium with surrounding inflammation within the retroperitoneum and colonic mesentery. Given his likely mechanism and symptomatic improvement, he was initially managed conservatively. However, he was readmitted with recurrence of symptoms, and a repeat CT scan demonstrated no interval improvement. An exploratory laparotomy was performed and a firm, fixed mass of the right-colon and colonic mesentery was found. Final histopathology of the mass revealed a diffuse lymphoid infiltrate with numerous mitotic figures and apoptotic cells. Immunohistochemical staining was positive for CD45, CD20, CD10, and BCL-6 and negative for CD3, TdT, and BCL-2, indicating a diagnosis of Burkitt lymphoma.


2004 ◽  
Vol 128 (4) ◽  
pp. 466-468 ◽  
Author(s):  
Sungmi Jung ◽  
Robert L. Schelper ◽  
Govinda S. Visvesvara ◽  
Howard T. Chang

Abstract Balamuthia mandrillaris meningoencephalitis is a rare but often fatal infection; only 2 survivors have been reported to date worldwide. We report the case of an apparently immunocompetent patient (72-year-old woman) who developed several episodes of seizures without prior history of respiratory or skin infections. Magnetic resonance imaging with contrast revealed 2 ring-enhancing lesions, one in the right precentral region and the other in the left posterotemporal region. Open biopsy revealed Balamuthia encephalitis. The patient was treated with combination antibiotics (pentamidine, 300 mg intravenously once a day; sulfadiazine, 1.5 g 4 times a day; fluconazole, 400 mg once a day; and clarithromycin, 500 mg 3 times a day) and was discharged home. There have been no significant neurological sequelae at this writing (6 months after biopsy). We present this case with unusual clinical course to raise awareness of this infectious disease, which may have a more favorable outcome if diagnosed and treated in its early states.


2019 ◽  
pp. 109-116
Author(s):  
David Harter

The diagnosis of spastic quadriplegia due to cerebral palsy should be made only after a detailed patient history. The patient should be assessed for prior history of prematurity, intraventricular hemorrhage, or static encephalopathy following a characteristic developmental progression of neurologic findings. MR imaging is used to assess brain anatomy, and the addition of metabolic and/or genetic testing for atypical cases should be considered. Proper patient selection for intrathecal baclofen placement can be confirmed by careful preoperative evaluation and a trial of intrathecal baclofen administered by lumbar puncture. Patients in the pediatric age range with significant medical comorbidities or with low BMI are at elevated risk of baclofen pump–related complications, which should be balanced against indications for pump placement.


2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Aarthi Srinivasan ◽  
Suzanne Millican

Background. Ectopic pregnancy is one of the leading causes of significant maternal morbidity and mortality. Abdominal surgeries increase the risk of postoperative adhesions. We here present a case of omental ectopic pregnancy in a patient with a prior history of cesarean section.Case. A 20-year-old female presented with a two-day history of crampy lower abdominal pain. Patient was hemodynamically stable with a beta HCG of 1057 mI/mL. Transvaginal ultrasound did not show an intrauterine pregnancy but revealed an ill-defined mass in the midline pelvis extending to the right of the midline. Diagnostic laparoscopy revealed large clots in the pelvis with normal uterus and adnexa. Intra-abdominal survey revealed an omental adhesion close to the right adnexa with a hematoma. Partial omentectomy was completed and the portion of the omentum with the hematoma was sent to pathology for confirmation. Final pathology confirmed the presence of chorionic villi consistent with products of conception.Conclusion. Omental ectopic pregnancy is a rare diagnosis and often missed. We recommend careful intra-abdominal survey for an ectopic pregnancy in the presence of hemoperitoneum with normal uterus and adnexa. This can be safely achieved using laparoscopy in early gestational ages when the patient is hemodynamically stable.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A760-A761
Author(s):  
Antonio Ochoa Pescador ◽  
Celeste Ong Ramos

Abstract Painful lumps in the axillary area are relatively common and could normally be brought about by several etiologies, more commonly, lipomas, fibroadenoma, hidradenitis suppurativa, lymphoma, or breast cancer. However, recurring painful ectopic gynecomastia in the axillary area of a male patient is of rare occurrence with only few reports in the literature. Here, we report a case of a 25 year old male, who presented to our clinic due to recurring painful right axillary mass. He denied any prior history of trauma, infection, breast mass, or previous lymphadenopathy, decrease in libido nor erectile dysfunction. The mass appeared to be truly subcutaneous at the interface of skin between the superior axilla and the medial arm. Breast exam did not reveal any palpable masses nor abnormalities. Ultrasonography of the right axillary region revealed findings that may represent an accessory axillary breast tissue and histological evaluation revealed an accessory breast tissue with gynecomastia. For such cases, individual treatment requirements can range from simple reassurance to medical treatment or even surgery, all depending on the possible etiology. Due to the diversity of possible etiologies, performing a careful history and physical examination is imperative and the need for hormonal evaluation is warranted to be able to arrive at a certain diagnosis.


2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Monica P. Gonzalez ◽  
Radames Rios ◽  
Mariella Pappaterra ◽  
Miguel Hernandez ◽  
Allison Toledo ◽  
...  

Purpose. To report on a case of reactivation of acute retinal necrosis following SARS-CoV-2 infection. Methods. Observational case report. Observations. A 32-year-old female with a distant history of left retinal detachment secondary to necrotizing herpetic retinitis complained of right-eye vision loss, pain, redness, and photophobia. An ophthalmological examination revealed findings consistent with acute retinal necrosis of the right eye. A polymerase chain reaction (PCR) analysis of the right vitreous was positive for herpes simplex virus type 2 (HSV-2). A coronavirus disease 2019 (COVID-19) screening test using reverse transcriptase- (RT-) PCR was positive for SARS-CoV-2 RNA. Conclusions. Our case suggests that COVID-19 may cause a latent HSV infection to reactivate, causing contralateral involvement in patients with a prior history of HSV-associated acute retinal necrosis.


2019 ◽  
Vol 3 (1) ◽  
pp. 64-66
Author(s):  
Dipendra Kumar Mallik ◽  
Suman Khanal ◽  
Sunil Dhakal ◽  
Roshan Mishra ◽  
Ishan Dhungana ◽  
...  

Intracystic papillary neoplasm of gallbladder (ICPNG) is defined as macroscopic papillary growth in the gallbladder. We report a case of ICPNG with epigastric metastasis. A 70-year-old woman was referred to our hospital with epigastric mass, with prior history of laproscopic cholecystectomy 15 months before. Post op histopathology report revealed Intracystic papillary neoplasm (premalignant lesion). Microscopic findings state tumor cells arranged in complex papillary pattern with fibrovascular core arising from gall bladder mucosa. Few of the Rokitansky Aschoff sinuses (RAS) also involved by these tumor cells. Adjacent gall bladder mucosa shows pyloric metaplasia. On FNAC of epigastric mass it showed Metastatic carcinoma favoring Adenocarcinoma. In present case, ICPNG was seen with few of Rokitansky Aschoff sinuses. It is necessary to determine appropriate proper surgical approach likely extended cholecystectomy, or pancreaticoduodenectomy to get R0 resection.


2021 ◽  
pp. 106689692199604
Author(s):  
Tess Tomassen ◽  
Cees van de Ven ◽  
Jakob Anninga ◽  
Christian Koelsche ◽  
Laura S. Hiemcke-Jiwa ◽  
...  

Nodular fasciitis is usually a benign lesion genetically characterized by ubiquitin-specific protease 6 ( USP6) rearrangements. We present a case of a 10-year-old boy with a 1.5-week history of a painless mass on the right chest wall, which was excised. A histomorphologically malignant tumor with pronounced pleomorphism, atypical mitotic figures, and a myoid immunophenotype was observed. The methylation profile was consistent with nodular fasciitis and fluorescence in situ hybridization confirmed USP6 rearrangement. Using Archer Fusion Plex (Sarcoma Panel) and RNA sequencing, a collagen, type VI, alpha 2 ( COL6A2) –USP6 gene fusion was subsequently identified. Furthermore, DNA clustering analysis also showed a match with nodular fasciitis. During the follow-up of 22 months, no recurrence or metastasis occurred. In conclusion, we describe a clinically benign, histomorphologically malignant mesenchymal neoplasm with a myoid immunophenotype, and a genetic and epigenetic profile consistent with nodular fasciitis. In such cases, molecular analysis is a useful adjunct to avoid unnecessary overtreatment.


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