scholarly journals Rare Leiomyoma of the Tunica Dartos: A Case Report with Clinical Relevance for Malignant Transformation and HLRCC

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Robert C. Bell ◽  
Evan T. Austin ◽  
Stacy J. Arnold ◽  
Frank C. Lin ◽  
Jonathan R. Walker ◽  
...  

Background. Genital leiomyomas fall under the broader category of cutaneous leiomyomas, which are rare smooth muscle neoplasms accounting for 5% of all leiomyomas. Genital leiomyomas arising from the dartos muscle are exceedingly rare with fewer than 30 cases reported in the literature. They are typically benign and adequately treated with simple surgical excision; however, previously reported cases of malignant transformation and a possible link to the hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome warrant closer follow-up.Case Presentation. We report a case of a 47-year-old male refugee from Rwanda found to have a mobile, pea-sized, mildly painful scrotal lesion near the left penoscrotal junction and 1.5 cm indeterminate vascular mass in the right kidney. Surgical excision of the scrotal nodule was performed and the diagnosis of a dartoic leiomyoma was rendered. The presence of moderate nuclear atypia, rare mitotic activity, and close surgical margins prompted a wide reexcision. We report the surgical approach, pathologic findings, and clinical follow-up related to this scrotal lesion.Conclusion. Scrotal leiomyomas demonstrate a high rate of recurrence and pose a risk for malignant transformation. They may also indicate an underlying autosomal dominant syndrome associated with increased risk for development of an aggressive form of renal cell carcinoma. When discovered, management should include surgical excision, screening for syndromic features, and routine follow-up.

FACE ◽  
2021 ◽  
pp. 273250162110536
Author(s):  
Joshua Harrison ◽  
Samantha Marley ◽  
Shawhin Shahriari ◽  
Christian Bowers ◽  
Anil Shetty

We report a rare case of an extramedullary plasmacytoma (EMP) in the frontal sinus with an indolent clinical presentation. Although a history of trauma was absent, the initial diagnosis was a mucocele, based on the radiological findings. Upon surgical excision, the patient was found to have an EMP. EMP, a form of solitary plasmacytoma, has a significantly high rate of conversion to multiple myeloma. This mandates long-term follow-up, even after successful radiotherapy and/or resection. While radiation therapy is generally considered a first line treatment for EMP, surgical intervention may provide optimal treatment in complicated cases. This case presentation highlights the prognosis of patients diagnosed with EMP.


2020 ◽  
Vol 22 (3) ◽  
pp. 149-153
Author(s):  
N. A. Ognerubov ◽  
T. S. Antipova ◽  
G. E. Gumareva

Renal cell cancer metastases without evidence of a primary tumor are extremely rare. These variants are usually showed as a spontaneous description of single clinical cases. Aim.This contribution is a clinical follow-up of synchronous renal cell cancer metastases of unknown primary site. Results.A 52-year-old patient U. with a history of increased blood pressure, up to 170/100 mmHg for the last 5 years, who had undergone many instrumental examinations, including ultrasound examination, because of this disease. The computed tomography of the abdomen showed a 4975 mm heterogeneous tumor in the right adrenal gland in October 2017. The combined positron emission and X-ray computed tomography showed a 795441 mm mass in the right adrenal gland, associated with elevated fluorodeoxyglucose metabolic activity SUVmax 7.25. Focal accumulation of the radiopharmaceutical SUVmax 4.31 in a 171124 mm mass was detected in the space of bifurcation in the mediastinum. The lytic lesion (1015 mm) was found in right superior L3 articular process. The patient underwent retroperitoneoscopic adrenalectomy and thoracoscopic removal of mediastinal tumor in November 2017 because of the oligometastatic nature of the process. The histological study identified clear-cell carcinoma with areas of papillary structure in the right adrenal gland. The immunohistochemical study showed carcinoma cells intensively expressing CD10, and some other cells RCC. The immune phenotype of the tumor was identified as clear-cell renal cell carcinoma. The immunohistological and immunohistochemical analysis reviled the metastases of the same variant of renal cell carcinoma in one of 9 lymph nodes. The patient was treated with pazopanib. The primary renal tumor was not detected during the dynamic observation, including the application of annual combined positron emission and X-ray computed tomography. The patient is alive without disease progression with a follow-up of 32 months. Conclusion.Metastases of clear-cell renal cell carcinoma, including adrenal gland, without evidence of a primary site are extremely rare. The main method of treatment is a combination of surgery and targeted therapy, providing long-term local control of the course of the disease.


2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 124-127 ◽  
Author(s):  
André Lencastre ◽  
Joana Cabete ◽  
Rui Gonçalves ◽  
Alexandre João ◽  
Ana Fidalgo

A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.


2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 588-588
Author(s):  
Mark A Preston ◽  
Xuehong Zhang ◽  
Rebecca E Graff ◽  
Alejandro Sanchez ◽  
Steven L Chang ◽  
...  

588 Background: The relationship between the widely used analgesics (i.e., aspirin, other nonsteroidal anti-inflammatory drugs (NSAID), and acetaminophen) and risk of total and lethal renal cell cancer remains unclear. Methods: We examined the associations between analgesic use and risk of renal cell cancer overall and by subtypes, in the Nurses’ Health Study (NHS) and the Health Professionals Follow-up Study (HPFS). We collected information on aspirin, other non-aspirin NSAIDs, and acetaminophen in 1990 in the NHS and in 1986 in the HPFS, and every 2 years thereafter. We used Cox proportional hazards models, controlling for other known and suspected risk factors, to examine the associations between baseline and duration of use of each analgesic and risk of total renal cell cancer, lethal renal cell cancer (resulted in death due to disease), as well as clear cell renal cell cancer. We pooled results using a random-effects model. Results: During follow-up of 22 years among 77,527 women and 26 years among 45,913 men, we documented 438 cases of renal cell cancer (230 in women and 208 in men), of which 106 were fatal (56 in women and 40 in men) and 300 were clear cell (165 in women and 135 in men). The pooled multivariable relative risks (RRs) for total renal cell cancer were 1.13 (95% CI: 0.91-1.39) for aspirin use, 1.34 (95% CI: 1.03-1.75) for non-aspirin NSAID use, and 1.07 (95% CI: 0.80-1.44) for acetaminophen use. Similar results were observed for lethal renal cell cancer and clear cell renal cell cancer. Importantly, longer duration of non-aspirin NSAID use was associated with an increased risk of renal cell cancer. The pooled (all p-heterogeneity > 0.05) multivariable RRs for total renal cell cancer were 1.23 (95% CI: 0.94-1.62) for non-aspirin NSAID users of 4-10 years and 1.81 (95% CI: 1.21-2.72) for over 10 years. The corresponding RRs were 1.91 (95% CI: 1.04-3.49) and 3.97 (95% CI: 1.46-10.83) for lethal renal cell cancer, and 1.36 (95% CI: 0.99-1.88) and 1.58 (95% CI: 0.94-2.63) for clear cell renal cell cancer. Conclusions: Our findings support a significant positive association between non-aspirin NSAID use and risk of developing renal cell cancer, especially the lethal form.


2020 ◽  
Vol 4 (3) ◽  
pp. 487-488
Author(s):  
Jessica Williams ◽  
Steven Hochman

Case Presentation: In this case, we demonstrate how a small radiolucency in the proximal humerus can progress to an even larger problem within a few months in a patient without follow-up. Our patient’s ultimate diagnosis was renal cell carcinoma with metastasis to the right proximal humerus, completely obliterating the affected bone. Discussion: In many underserved communities, patients have limited access to medical care, particularly specialty care. These patients often present to the emergency department and are unable to acquire appropriate follow-up. This situation illustrates the social issues that our patients face every day affecting their access to healthcare and ultimately necessary medical treatment.


2020 ◽  
pp. 1-4
Author(s):  
Ziad El Rassi ◽  
Charbel Aoun ◽  
Hani Maalouf ◽  
Saleem Abdel Backi ◽  
Toufic Saber ◽  
...  

Introduction: Pilonidal disease is a chronic inflammatory process resulting from impaction of natal cleft hair into the subcutaneous tissues creating an abscess or a draining sinus over the sacrococcygeal area. Malignant transformation occurs in around 0.1%, mainly into squamous cell carcinoma (SCC) type. Wide excision with tumor-free margins remains the treatment of choice. Multiple closure techniques were settled and the best one ought to be chosen in a context malignancy and future radiological treatment. Case Presentation: We describe the management of a case of a 69-year-old male with chronic pilonidal disease, recurrent after 25 years found on final pathology to undergo malignant transformation into SCC. Wide and aggressive excision were performed with new margins and with periosteal excision of the sacrum and coccyx. rotational myocutaneous gluteal flap was done for closure of the wound in order to ensure better satisfactory esthetic results without a delay in future treatment. Conclusion: The progression of a chronic pilonidal disease into SCC is a rare but serious complication. The diagnosis is confirmed by biopsies. Workup for metastasis should be made before aggressive surgical excision. Oncoplastic surgeries is recommended for satisfactory results. Routine follow-up postoperatively should be considered due to high rate of recurrence by physical examination and imaging.


2021 ◽  
Vol 11 ◽  
Author(s):  
Mohammad Al-Shinnag ◽  
Helen Marfan ◽  
Rachel Susman ◽  
Jan Wakeling ◽  
Sonja Gustafson ◽  
...  

AimWe aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC) cohort.MethodsAll identified patients with a diagnosis of BHD or HLRCC at RBWH 01/01/2014-01/09/2019 were included (HREC/17/QRBW/276). All patients were initially assessed and counselled by a clinical geneticist and then referred to an adult nephrologist. Baseline and incidental clinical variables were extracted and analysed.ResultsFifty-seven patients were identified (28 BHD, 29 HLRCC) with a median age of 47 years. The median and cumulative follow-up were 1 and 99 years, respectively. Baseline renal MRI occurred in 40/57 patients, and 33/57 had regular MRI as per the national guidelines (eviQ). Of 18/57 without baseline imaging, nine were yet to have imaging, seven were lost follow-up, and two patients had logistic difficulties. RCC was diagnosed in 11/57 patients: two of 28 with BHD were diagnosed with RCC aged 73 and 77, both prior to commencement of surveillance. Nine of 29 patients with HLRCC were diagnosed with RCC (one of 29 during surveillance at 47 years of age) and eight of 29 prior to commencement of surveillance (11–55 years). Amongst BHD patients, cutaneous fibrofolliculomas were noted in 15 patients, lung cysts were detected in seven patients, spontaneous pneumothoraces in five patients, and parotid oncocytoma in two of 28. Amongst those with HLRCC, cutaneous leiomyomas were noted in 19/29, cutaneous leiomyosarcoma diagnosed in one of 29, and uterine fibroids in 13 female patients.ConclusionEvidence-based RCC screening in BHD and HLRCC cohort is feasible and able to identify incidental renal lesions. Multidisciplinary patient management enables expedited genetic counselling, diagnosis, longitudinal screening, and RCC management. The success of this clinical model warrants consideration of undertaking longitudinal screening of BHD and HLRCC patients by nephrologists.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nouhoum Guirou ◽  
Serge Resnikoff ◽  
Abba Kaka Hadja Yakoura ◽  
Michel Gouda ◽  
Seydou Bakayoko ◽  
...  

Abstract Background Ocular damage, including damage to the conjunctiva, lacrimal gland, eyelids, and orbit, caused by Schistosoma haematobium is sporadic. We report a clinical case of orbital migration of schistosome eggs. Case presentation A 14-year-old boy of Malian nationality presented with a painless swelling of the upper right eyelid, which had been gradually increasing for approximately 3 months. Visual acuity was logMAR 0.10 and 0.00 in the right and left eye, respectively. External examination revealed a right palpebral mass, pushing the globe slightly downward and inward. Computed tomography revealed a mass of the right lacrimal gland. Total excision of the mass was performed by transpalpebral orbitotomy. Pathological examination revealed an inflammatory granulomatous infiltrate of the lacrimal gland consisting of lymphocytes, eosinophils, giant cells, epithelioid cell, histiocytes and calcified Schistosoma eggs with terminal spine. Urine examination revealed eggs of S. haematobium. Praziquantel 40 mg/kg was administered to the patient. The hematuria stopped after 1 week. After 3 years of follow-up, no recurrence was noted. Conclusions The bilharzian granuloma of the lacrimal gland is an ectopic site of the parasite. In this case, the granuloma was cured by surgical excision followed by a course of Praziquantel.


2021 ◽  
pp. 269-273
Author(s):  
Charles Marchand Crety ◽  
Estelle Vigneau ◽  
Camille Invernizzi

Nasosinus metastases from kidney cancer are an unusual clinical presentation although some cases are reported in the literature. Among these cases, sphenoidal metastases are even rarer. Here we report a case of lone sphenoid metastasis in patients with papillary renal cell cancer. Eight months after radical nephrectomy, the patient presented with progressively worsening diplopia. Magnetic resonance imaging showed a mass in the right sphenoid sinus. Histopathological examination of the biopsy sample confirmed diagnosis of sinonasal metastasis from papillary renal cell carcinoma. The patient was declined for surgical management and received stereotactic body radiation therapy. Reassessment MRI at 4 months showed a complete response of the treated sphenoid lesion.


BMC Urology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Li-cheng Song ◽  
Qian Xu ◽  
Hui Li ◽  
Zhi-jun Li ◽  
Ya Li ◽  
...  

Abstract Background Osteochondroma is the most common benign bone neoplasm and is sometimes referred to as osteocartilaginous exostosis. The symptoms caused by osteochondroma are rare, especially the urogenital complications. Therefore, this tumour is sometimes misdiagnosed. Case presentation This report described a 70-year-old woman with hematuria who was initially misdiagnosed with a bladder tumour in the outpatient department by a urologist. However, during cystoscopy, we found that the mass did not resemble a bladder tumor. Multidisciplinary approach with careful analysis of the imaging data suggested the diagnosis of osteochondroma. Open surgical excision of the mass was done and histology confirmed the diagnosis of benign osteochondroma. After 6 months of follow-up, the patient was still asymptomatic. Conclusions This case illustrates that hematuria is caused by not only urogenital disease but also osteochondroma. We present this case to draw the attention of clinicians to osteochondroma of the pubic symphysis.


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