A challenging diagnosis and treatment of embryonal rhabdomyosarcoma in the cervix of an adult woman: A surgical case report.

INTRODUCTION AND IMPORTANCE: Embryonal Rhabdomyosarcoma is a rare form of sarcoma mainly seen in children and adolescents. In the specific case of the cervix, embryonal Rhabdomyosarcoma is an extremely rare mesenchymal tumor, accounting for <1 % of all cervical cancers. This highly malignant tumor mainly affects adolescents and young adults. CASE PRESENTATION: We describe the case of a 29-year-old woman with embryonal rhabdomyosarcoma of the cervix, which manifested as an exophytic cervical mass. Histopathological and immunohistochemical findings confirmed the presence of embryonal rhabdomyosarcoma of the cervix. This patient was successfully treated with a combination of neoadjuvant chemoradiotherapy, total abdominal hysterectomy with bilateral ovary transposition, and adjuvant chemoradiotherapy. CLINICAL DISCUSSION: Embryonal Rhabdomyosarcoma of the cervix may manifest by vaginal bleeding, a cervical mass and pelvic symptoms. The diagnosis is confirmed by histopathology and immunohistochemistry. With multimodal treatment including surgery, chemotherapy and radiotherapy, outcomes improve for patients. CONCLUSIONS: Uterine cervix embryonal RMS is an uncommon cancer in adult patients. While rare, it should be considered as a potential diagnosis in patients presenting with vaginal bleeding and a significant cervical polyp. Histopathology, complemented by relevant immunohistochemistry, is crucial for accurately detecting the tumor and guiding appropriate management strategies.

Cardiac myxoma and cerebral vasculitis: Is there a link?

BACKGROUND: Cardiac myxomas present a diagnostic challenge due to their ability to mimic various cardiovascular and systemic conditions. Timely identification is crucial for implementing surgical intervention and averting life-threatening complications. CASE PRESENTATION: We reported the case of a 49-year-old male patient who presented sudden legs weakness and slurred speech and was admitted 10 h later in emergency department. Physical examination was significant for paraparesis and paraphasia. Cardiac and carotid auscultation was normal. CT brain revealed multiple acute ischemic strokes and MRA was suggestive of cerebral vasculitis. As pre-therapy assessment, the EKG revealed no electrical abnormalities and the chest X-ray showed signs of left atrial enlargement. Transthoracic and transesophageal echocardiography showed a left atrial mass attached to the interatrial septum, measuring 9*5*4 cm and extending into the left ventricular cavity during diastole, which suggested the diagnosis of left atrial myxoma. The patient was referred for open-heart surgery and histopathological examination confirmed the diagnosis of myxoma. The patient weaned off from cardiopulmonary bypass and the postoperative period was uneventful. CONCLUSION: We reported an interesting case with an unusual and misleading neurological presentation of a cardiac myxoma. The unpredictability of serious complications occurrence must awaken our medical flair, for an early diagnosis among a long list of differentials.

BRCA1 Promoter Hypermethylation in Malignant Breast Tumors and in the Histologically Normal Adjacent Tissues to the Tumors: Exploring Its Potential as a Biomarker and Its Clinical Significance in a Translational Approach.

The hypermethylation status of the promoter region of the breast cancer 1 (BRCA1), a well-known tumor suppressor gene, has been extensively investigated in the last two decades as a potential biomarker for breast cancer. In this retrospective study, we investigated the prevalence of BRCA1 promoter methylation in 84 human breast tissues, and we correlated this epigenetic silencing with the clinical and histopathological parameters of breast cancer. We used methylation-specific PCR (MSP) to analyze BRCA1 promoter hypermethylation in 48 malignant breast tumors (MBTs), 15 normal adjacent tissues (NATs), and 21 benign breast lesions (BBLs). The results showed that BRCA1 promoter hypermethylation was higher in MBTs (20/48; 41.67%) and NATs (7/15; 46.67%) compared to BBLs (4/21; 19.05%). The high percentage of BRCA1 hypermethylation in the histologically normal adjacent tissues to the tumors (NATs) suggests the involvement of this epigenetic silencing as a potential biomarker of the early genomic instability in NATs surrounding the tumors. The detection of BRCA1 promoter hypermethylation in BBLs reinforces this suggestion, knowing that a non-negligible rate of benign breast lesions was reported to evolve into cancer. Moreover, our results indicated that the BRCA1 promoter hypermethylated group of MBTs exhibited higher rates of aggressive features, as indicated by the SBR III grade (14/19; 73.68%), elevated Ki67 levels (13/16; 81.25%), and Her2 receptor overexpression (5/20; 25%). Finally, we observed a concordance (60%) in BRCA1 promoter hypermethylation status between malignant breast tumors and their paired histologically normal adjacent tissues. This study highlights the role of BRCA1 promoter hypermethylation as a potential useful biomarker of aggressiveness in MBTs and as an early marker of genomic instability in both histological NATs and BBLs.

A Novel ALK-THBS1 Fusion in a Laryngeal Inflammatory Myofibroblastic Tumour: A Case Report and Literature Review.

Inflammatory myofibroblastic tumor (IMT) is an uncommon neoplasm most frequently seen in the abdomino-pelvic region and lungs of children and young adults. Laryngeal tumors are rare. We present a case of a 23-year-old patient with a 5 month history of laryngitis and aphonia unresolved by corticotherapy. Laryngoscopy revealed a small, non-ulcerated, subepithelial, polypoid mass arising from the right vocal cord. The diagnosis of IMT with ALK expression was supported by histopathologic and molecular analysis. The THBS1 fusion partner was identified by RNA-sequencing analysis for the first time in a laryngeal IMT. This fusion partner has only been identified in six uterine IMTs thus far. Conservative excision of the lesion yielded excellent functional results for the patient. The voice was preserved and no recurrences were seen after 6 months of follow-up.

Primary epitheloid angiosarcoma of the pleura: an exceptional tumor location.

Primary angiosarcoma of the pleura is an extremely rare tumour arising from arterial or venous pulmonary vessels of various size. It is characterized by an aggressive course and a poor prognosis. The early diagnosis is challenging due to diverse clinical and radiological manifestations. We report a case of a 70 year old male with primary right pleural epitheloid angiosarcoma. The patient had a history of a two week's progressive dyspnea. CT-scan showed a prominent thikening of the right pleura associated with pleural effusion and atelectasis. CT-scan guided by biopsy was performed and histological examination showed a tumor proliferation consisting of sheets of polygonal and epitheloid cells showing rudimentary vascular differentiation. Immunohistochemically, tumor cells were strongly positive for CD31 and Factor VIII-related antigen, negative for CD34, weakly and focally positive for EMA and Cytokeratine. The overall pathological and immunohistochemical features of the pleural specimens supported the diagnosis of epitheloid angiosarcma. The patient died after a week of discharge by pulsless ventricular tachycardia arrest. In addition, we also present a brief litterature review on pleural angiosarcoma. Our experience with this case suggests that comprehensive and sufficient sample collection and meticulous histological examination aided with immunohistochemical stains, particulary the endothelial markers, are required for accurate diagnosis of this rare malignancy.

A Rare Case of Malignant Tumor of the Larynx with Good Prognosis: Laryngeal Chondrosarcoma.

Laryngeal chondrosarcoma is a rare laryngeal tumor that most frequently originates from the cricoid cartilage. The majority of lesions are low grade and the distinction from benign chondromas must be made. We present a case of a laryngeal chondrosarcoma arising from the cricoid cartilage in a 75-year-old Arab man who presented with hoarseness, dysphonia, and dyspnea. Endoscopic and radiological examinations showed a mass of the wall of his larynx with displaced structures, airway obstruction, and destruction of the cartilage. The patient underwent total laryngectomy. Histological examination supported the diagnosis of low-grade chondrosarcoma. Five months later, the radiological and clinical findings showed no evidence of recurrence or metastases. Laryngeal chondrosarcomas remain a rare disease of unknown etiology, with slow and insidious symptoms. The treatment is surgical, given the importance of preserving the larynx to patients' quality of life. The prognosis is favorable and metastases rarely occur.

Abscess due to textiloma (gossypiboma: Retained surgical cottonoid).

BACKGROUND: Surgical site infections following spinal surgery, including spinal abscesses, are rare but serious as they are major causes of morbidity, and even mortality. They are, however, rarely attributed to infected, retained surgical cottonoids or sponges (textiloma or gossypiboma) inadvertently left in an operative field. CASE DESCRIPTION: A 53-year-old female with a history of two prior spinal operations at the L4-S1 levels (11 and 2 years previously) presented over a few weeks with the acute onset of a cauda equina syndrome (e.g., paraparesis and acute urinary incontinence). The patient demonstrated a mildly elevated white blood cell count (12,600/mm3) and abnormally increased C-reactive protein level that correlated with the magnetic resonance imaging that showed a dorsal epidural abscess extending from the L4 to S1 levels. At surgery, an encapsulated posterior epidural abscess was drained. Surgical findings included a granulomatous lesion consistent with a retained surgical cottonoid and was removed from the antero-inferior portion of the abscess wall at S1. Culture of the thick fibrotic abscess wall grew Klebsiella oxytoca. After 2 months of ciprofloxacin, the patient's infection cleared but the motor deficit only partially resolved. CONCLUSION: Most spinal textilomas (gossypibomas) are aseptic and are found in paraspinal areas without neurological symptoms or sequelae. These lesions may remain silent for years and may only rarely cause neurologic or infectious symptoms/signs. Notably, textilomas following spinal surgery may be largely avoided if proper cottonoid and sponge counts are done prior to closing spinal wounds.

A rare tumour in the cerebellopontine angle: endolymphatic sac tumour.

We present a case of a papillary tumour at the cerebellopontine angle in a 54-year-old man. He presented with right-sided ear pain associated with dizziness and hearing loss. The radiological diagnosis was in favor of acoustic neurinoma. Surgical excision was performed and the diagnosis of the endolymphatic sac tumour was made. Endolymphatic tumour is a low grade adenocarcinoma that originates from the endolymphatic sac. The definitive diagnosis requires a combination of clinical features, radiological finding and pathological correlation.

Acute spinal cord compression caused by atypical vertebral hemangioma.

Vertebral hemangioma is common, benign lesion that occurs mostly in the body of vertebral bones and is mostly asymptomatic although they may occasionally extend into the posterior elements. An isolated location in the neural arch of vertebrae is extremely rare. An acute spinal cord compression by an exceptional hemangioma involving spinous process of the seventh thoracic vertebra and respecting vertebral body in a 40-year-old woman is reported. On magnetic resonance imaging of the spine, the lesion was hypointense on T1-weighted image, hyperintense on T2-weited image, and enhancing avidly, causing compression of spinal cord. Our case is exceptional by the rapidly character of symptom installation and by atypical and elective involvement of spinous process.

Proximal-type epithelioid sarcoma: a new case report and literature review.

Proximal-type epithelioid sarcoma is a rare soft tissue neoplasm which arises from the more proximal part of body and occurs more often in young people; the definite diagnosis depends mainly on the pathological examination; early detection and complete excision remain the foundation of treatment. Due to its aggressive behavior, high capacity of recurrence and the great ability to metastasize, a careful clinical long-term monitoring is required. We report a new case of a 20 years old girl, presented with proximal-type epithelioid sarcoma in her right scapular region, confirmed by pathological examination and removed surgically without recurrence or metastasis at eighteen months of follow-up.

Association of laryngeal and nasopharyngeal tuberculosis: a case report.

INTRODUCTION: To the best of our knowledge, the association of nasopharyngeal and laryngeal tuberculosis has never been described before in the literature. We report here a first observation. CASE PRESENTATION: We report the case of a 38-year-old Arab man who presented with an isolated hoarseness. Radiological and endoscopic examinations showed a thickening of the left lateral wall of his nasopharynx and the left vocal cord. Pathology revealed the diagnosis of tuberculosis of both localizations. He received a 6-month antituberculous chemotherapy with a satisfying uneventful evolution. CONCLUSIONS: Tuberculosis should be considered in the differential diagnosis of soft tissue masses of the head and neck, particularly when the imaging findings and clinical presentation are atypical. The diagnosis of tuberculosis is mainly based on histopathological and/or bacteriological examination.

Adenoid cystic carcinoma of the trachea: a clinico-pathological analysis.

Primary malignant tracheal tumors are not common and adenoid cystic carcinoma (ACC) of trachea is very rare. The diagnosis is often delayed due to the atypical symptoms. We report an extremely rare case of ACC of proximal trachea, in a 55-year-old female who presented with a 12 month history of progressive dyspnea. Laryngoscopy and computed tomography revealed a broad-based polypoidal mass arising from posterior wall of the proximal trachea. Biopsy confirmed the diagnosis of ACC. The patient underwent a complete surgical resection and post operative radiotherapy. Six months follow-up of the patient did not reveal local recurrence or distant metastases. The literature of tracheal ACC is reviewed.

Tuberculosis of the Spermatic Cord: Case Report.

The spermatic cord tuberculoma is uncommon, especially in its lower portion. Most cases were described in Japanese literature. We report a case of tuberculosis of the spermatic cord in a sexually active young man, revealed by a scrotal mass mimicking a tumor of the testicle and discuss the suitable diagnostic and therapeutic procedures, with preservation of the testes and the other sexual organs.

Primary solitary fibrous tumor of the retroperitoneum.

Solitary fibrous tumor is an uncommon neoplasm affecting adults and typically located in the pleura and can also occur in a large number of other extra thoracic sites. We present the case of a solitary fibrous tumor (SFT) of the retroperitoneum and describe their histopathological and immunohistochemical features. The identification of SFT in the retroperitoneum is of importance because its clinico-pathological behaviour is still unclear. The pathologist plays a fundamental role in establishing both the positive and differential diagnosis.