Mucosal Schwann Cell Hamartoma on Screening Colonoscopy: An Unusual Finding.

Schwann cells are found in the peripheral nervous system and can sometimes appear as benign hamartoma lesions in various parts of the body. Although rare in the gastrointestinal (GI) tract, they have been observed in the colon. Recently, mucosal Schwann cell hamartomas of the GI tract have been studied, and it was discovered that they had yet to be investigated up to 2009. In this context, we present the case of a 60-year-old man who was found to have lesions in the transverse colon during a routine colonoscopy. No further investigations were conducted since these lesions have not been associated with any risk of malignancy transformation and have not been linked to any inherited syndromes. LEARNING POINTS: Mucosal Schwann cell hamartomas are rare types of polyps that can be found anywhere in the gastrointestinal tract.They are benign lesions not usually associated with any inherited syndrome and they are usually found incidentally by endoscopy.These polyps are benign and might not require further follow-up once diagnosed.

Primary Sarcomas of the Larynx: A Case Series of Four Different Histopathologic Types.

Primary laryngeal sarcomas are rare. Their nomenclature and classification are similar to soft tissue counterparts; however, there are notable differences between clinical presentation, behavior, treatment, and follow-up. There is sparse information regarding the clinical features, biologic behavior, and treatment modalities of laryngeal sarcomas. To increase our understanding about these tumors, we describe herein an additional series of four cases of different pathologic types of laryngeal sarcomas, including low-grade chondrosarcoma, leiomyosarcoma, well-differentiated liposarcoma, and undifferentiated pleomorphic sarcoma. Our main aim is to upsurge awareness about the morphologic variations of laryngeal sarcomas, to avoid potential pitfalls during histopathologic examination. It is essential to ensure that correct diagnosis, subclassification, and grading are achieved for proper guidance of treatment and clinical follow-up at multidisciplinary team meetings.

Synchronous gnathic osteosarcoma and B-cell lymphoblastic lymphoma/leukemia: A rare case presentation.

Multiple primary malignancies are a well-recognized entity, with increased recognition and detection alongside development of hybrid imagining. We present a rare case of a 16-year-old male with gnathic osteosarcoma and incidental finding of a second silent synchronous B-cell lymphoblastic lymphoma/leukemia in the lower limb. Treated successfully by chemotherapy, radiotherapy, and surgery.

A 60-Year-Old Woman with Symptoms of Combined Carpal Tunnel Syndrome and Cubital Tunnel Syndrome Due to an Elastofibroma Causing Compression of the Median and Ulnar Nerves.

BACKGROUND Cubital tunnel syndrome results from pressure or stretching of the ulnar nerve, and carpal tunnel syndrome involves the median nerve. Elastofibroma is a rare, benign, slow-growing soft-tissue tumor that commonly occurs as a bilateral infrascapular tumor in elderly women. This report is of a 60-year-old woman who presented with combined carpal tunnel syndrome and cubital tunnel syndrome due to an elastofibroma causing compression of the median and ulnar nerves. CASE REPORT We report the case of a 66-year-old woman with left-hand numbness, tingling along the fingers, sleep disturbance, and weakness in pinching or holding objects for an extended period. The clinical examination and nerve conduction studies established the diagnosis of combined carpal tunnel syndrome (CTS) and cubital tunnel syndrome (CuTs) complicated by intrinsic muscle wasting. The patient underwent left carpal and cubital tunnels release surgery and end-to-side anterior interosseous nerve transfer to the motor component of the ulnar nerve. Pathologic evaluation of the entire specimen showed collagen bundles alternating with refractive cylinders stained with Verfoeff-van Gieson elastic stain. CONCLUSIONS This report is of a rare case of a histologically-confirmed single, peripheral, benign elastofibroma involving compression of the ulnar and median nerves. This case highlights the importance of histopathology in diagnosing rare soft-tissue tumors arising at an uncommon site and presenting with rare symptoms.

Well-Differentiated Liposarcoma of the Hypopharynx Exhibiting Myxoid Liposarcoma-like Morphology with MDM2 and DDIT3 Co-Amplification.

Well-differentiated liposarcoma (WDL) is one of the most common soft tissue sarcomas in adults. It has a predilection for middle-aged males and arises in deep-seated locations such as retroperitoneum, mediastinum, and spermatic cord. Its occurrence in young individuals at the hypopharyngeal region is an exceedingly rare event. Myxoid liposarcoma (ML)-like changes can seldom occur in some cases of WDL, which makes the diagnosis of WDL more challenging. Amplification of DDIT3 gene in a subset of cases of WDL has shown to be associated with such unique morphology. Herein, we present a case of a 36-year-old gentleman who presented with difficulty in breathing and swallowing for 3 months duration. CT scan of the neck revealed a lesion along the posterior wall of the hypopharynx measuring 3.5 cm. Histopathologic examination revealed a tumor composed of lobules of oval to spindle cells in a prominent myxoid stroma with delicate chicken-wire vasculature. In the vicinity, there were lobules composed of variably sized adipocytes separated by thick fibrous septa that contains atypical hyperchromatic spindle cells. By immunohistochemistry, the tumor cells in both components were immunoreactive for CDK4, but negative for MDM2. Fluorescence in-situ hybridization (FISH) confirmed the presence of MDM2 gene amplification. There was no evidence of FUS-DDIT3 gene rearrangement, however, DDIT3 gene was also amplified. The diagnosis of well-differentiated liposarcoma with prominent myxoid stroma was rendered. This is the first documentation of WDL with ML-like morphology harboring co-amplification of MDM2 and DDIT3 in the hypopharynx.

Periodontitis and Intra-Oral Plasmacytosis in a Noonan's Syndrome Patient.

A 13-year-old female patient with Noonan's syndrome, intra-oral periodontitis, and associated periodontal lesions is presented in this case report. The patient suffered early onset severe molar pattern periodontitis and recurrent intra-oral inflammatory lesions, pyogenic granuloma, and plasmacytosis, which were excised and controlled using a strict oral hygiene protocol based on long-term use of chlorhexidine-based products as auxiliary aid to regular home care and brushing.

Sausage digit: Isolated tuberculous tenosynovitis of the middle finger.

Isolated tuberculous tenosynovitis is a rare form of extra-pulmonary tuberculosis that frequently eludes assessment and constitutes diagnostic challenges.

Time equals sight: Sphenoid sinus aspergilloma with vision loss.

Sphenoid sinus aspergilloma (SSA) with visual loss has rarely been reported. Timely recognition and prompt surgical intervention are crucial to avoid permanent neurological consequences.

Gene Expression Profiling of FFPE Samples: A Titration Test.

The gene expression analysis of formalin-fixed paraffin-embedded (FFPE) tissues is often hampered by poor RNA quality, which results from the oxidation, cross-linking and other chemical modifications induced by the inclusion in paraffin. Yet, FFPE samples are a valuable source for molecular studies and can provide great insights into disease progression and prognosis. With the advancement of genomic technologies, new methods have been established that offer reliable and accurate gene expression workflows on samples of poor quality. NanoString is a probe-based technology that allows the direct counting of the mRNA transcripts and can be applied to degraded samples. Here, we have tested 2 RNA extraction methods for FFPE samples, and we have performed a titration experiment to evaluate the impact of RNA degradation and RNA input on the gene expression profiles assessed using the NanoString IO360 panel. We have selected FFPE samples of different DV200 values and assessed them on the nCounter platform with 2 different amounts of input RNA. This study concludes that the nCounter is a robust and reliable platform to assess the gene expression of RNA samples with DV200 > 30%; its robustness and ease of use could be of particular benefit to clinical settings.

Sclerosing epithelioid fibrosarcoma: in-depth review of a genetically heterogeneous tumor.

First described in 1995 by Meis-Kindbloom et al. as a variant of fibrosarcoma simulating carcinoma, sclerosing epithelioid fibrosarcoma (SEF) is a malignant soft tissue sarcoma characterized by epithelioid cells in dense sclerotic stroma, frequent immunoreactivity for MUC4 and heterogeneous genetic profile with recurrent EWSR1 gene rearrangement. It typically affects middle-age adults with a predilection for the lower extremity. It is believed that SEF is closely related to low-grade fibromyxoid sarcoma (LGFMS), both tumors show overlapping features in morphology, immunophenotype, and molecular profile. In this review, we discuss the clinical, morphologic, and immunohistochemical features of SEF with particular emphasis on its molecular diversity and relation to LGFMS.

Pseudomyogenic hemangioendothelioma of bone with rare WWTR1-FOSB fusion gene: Case report and literature review.

Pseudomyogenic hemangioendothelioma rarely arises in bone. WWTR1-FOSB fusion gene is rarely reported in PMHE of bone. Currently, fusion genes can be used as diagnostic markers in PMHE; however, their prognostic and therapeutic significance is unclear.

Epidemiology, histopathology, clinical outcomes and survival of 50 cases of appendiceal mucinous neoplasms: Retrospective cross-sectional single academic tertiary care hospital experience.

BACKGROUND: Appendicular neoplasms are rare, most commonly as carcinoids followed by appendicular mucinous neoplasms (AMN). To date, there remains controversy regarding the best treatment of AMN and factors affecting its prognosis. METHOD: Retrospective chart review of patients operated for appendicular pathology (January 2011-December 2018, follow up to December 2020) at our institution. For all AMN patients, data included pre-operative clinical presentation, and operative/post-operative findings. RESULTS: 12454 patients underwent appendectomy, of whom 50 (0.4%) had AMN histopathologically (mean age = 47.2). Most patients had laparoscopic appendectomy as primary surgery. Low grade AMN was the most common subtype (n = 41, 82%), and pseudomyxoma peritonei (PMP) was found in 8 (16%) patients. Based on histopathology and margin involvement, the 50 patients were categorized into 3 prognostic categories of recurrence risk (no risk, 24 patients; low risk, 8; high recurrence risk, 18 patients). Disease-free survival (DFS) was lowest for high recurrence risk group (P < 0.001). Eleven (22%) patients had AMN involving resection margin, of whom 3 had no completion surgery and had no recurrence. Higher tumor markers were associated with lower DFS, however it was not statistically significant. CONCLUSION: AMNs are rare but serious due to the risk of PMP. Laparoscopic approach for AMN may be feasible. Prognostic categories were significantly inversely correlated with recurrence risk; hence useful in predicting prognosis. Contrary to previous proposals, AMNs with acellular mucin at margin or local acellular mucin spillage may not require secondary surgery, especially if the patient is in low recurrence risk group. Tumor markers may predict risk of recurrence.

Ancient foe spectra: Case series of Mycobacterium tuberculosis presentations.

Extrapulmonary tuberculosis frequently eludes assessment through atypical presentations and constitute diagnostic challenges. High degree of suspicion with aids of GeneXpert MTB/RIF can clinch the diagnosis and avoid unnecessary consequences.

SARS-CoV-2 infection in mortuary and cemetery workers.

BACKGROUND: Mortuary and cemetery workers may be exposed to the bodies of people with SARS-CoV-2 infection; however, prevalence of infection among these groups is unknown. METHODS: Nasopharyngeal swabs (NPS) for RT-PCR and serologic testing for SARS-CoV-2 were performed on mortuary and cemetery workers in Qatar. Data on specific job duties, living conditions, contact history, and clinical course were gathered. Environmental sampling was carried out to explore any association with infection. Logistic regression analysis was used to determine the factors associated with infection. RESULTS: Forty-seven mortuary workers provided an NPS and seven (14.9%) were PCR positive; 32 provided a blood sample and eight (25%) were antibody positive, six (75%) who were seropositive were also PCR positive. Among the 81 cemetery workers, 76 provided an NPS and five (6.6%) were PCR positive; 64 provided a blood sample and 22 (34.4%) were antibody positive, three (13.6%) who were seropositive were also PCR positive. Three (22.2%) and 20 (83.3%) of the infected mortuary and cemetery workers were asymptomatic, respectively. Age <30 years (OR 4.9, 95% CI 1.7-14.6), community exposure with a known case (OR 4.7, 95% CI 1.7-13.3), and presence of symptoms in the preceding 2 weeks (OR 9.0, 95% CI 1.9-42.0) were independently associated with an increased risk of infection (PCR or antibody positive). Of the 46 environmental and surface samples, all were negative or had a Ct value of >35. CONCLUSION: A substantial proportion of mortuary and cemetery workers had evidence of SARS-CoV-2 infection, which was incidentally detected upon serologic testing. These data are most consistent with community acquisition rather than occupational acquisition.

Epidemiology and pathology of oral squamous cell carcinoma in a multi-ethnic population: Retrospective study of 154 cases over 7 years in Qatar.

BACKGROUND: Oral cancer (OC) is a neoplastic process of the oral cavity that has high mortality and significant effects on patients' aesthetics. The majority of OC is oral squamous cell carcinoma (OSCC) and resection remains the most frequent treatment. Recurrence is the main cause of tumor-related mortality. MATERIAL AND METHODS: A retrospective review of patients' charts at Hamad Medical Corporation examined 154 adults who were diagnosed as OSCC and referred to the national head and neck cancer multi-disciplinary team meetings between 2012 and 2018. The data extracted was demographic, pathologic and clinical. All patients with oral cavity tumors other than squamous cell carcinoma were excluded. RESULTS: Males comprised the majority of the sample, mean age was 46.93 years. Tongue was the most common location. The majority of the patients were diagnosed at early stages, and a small subset of patients had histologically-proven local recurrence. CONCLUSION: The young male predominance of OSCC patients in Qatar is unprecedented worldwide. Most patients were non-Qataris, mainly from South Asia. Loss of follow-up was a challenge in assessing the long-term outcomes of OSCC. Our findings suggest the need for a more vigilant surveillance approach to oral lesions particularly in male South-Asian patients, as well as improving the follow-up strategies.

Locally Aggressive Giant Cell Tumor of Bone With Pulmonary Distant Metastasis and Extrapulmonary Seeding in Pregnancy.

Giant cell tumor of bone (GCTB) is a locally aggressive benign neoplasm that is associated with a large biological spectrum ranging from latent benign to highly recurrent and occasionally metastatic tumor. In this article, we present a case of a 26-year-old woman who presented with swelling at the left lower ribs during pregnancy. Surgical excision was done, and histopathology showed tumor with features consistent with GCTB. MRI preformed after delivery revealed recurrence of the mass with extensive growth reaching 17 cm with two subcutaneous satellite nodules in the adjacent abdominal wall. positron emission tomography-computed tomography (PET-CT) scan revealed bilateral fluorodeoxyglucose (FDG)-avid lung nodules. Surgical resection was done, and histopathology showed no evidence of malignant transformation. Few months later, the tumor recurred again, with peritoneal deposits. The patient underwent wide massive resection of the recurrent mass and then started on denosumab therapy. Molecular analysis of the tumor detected H3F3A G34W mutation with no copy number alterations. We are presenting this case of GCTB with pulmonary distant metastasis and extrapulmonary seeding to upsurge awareness among clinicians about the possible extreme aggressive biological behavior of GCTB that can mimic the presentation of malignant bone tumor and also to discuss the possible predictive factors of such aggressive behavior.

Traumatic injuries associated with suicide attempts: A retrospective study from single national level 1 trauma center.

BACKGROUND: Suicide is a complex phenomenon involving several risk factors. We aimed to describe the frequency, pattern, and outcomes of patients with traumatic injuries following suicide attempts admitted to a level 1 trauma center. METHODS: We conducted a retrospective analysis of data obtained from Qatar National Trauma Registry and mortuary database. The study included all patients with traumatic injuries following suicide attempts, admitted to the Hamad Trauma Center (HTC) from April 2008 to March 2018. RESULTS: During this 10-year period, 206 patients were admitted to the HTC for injuries associated with suicide attempts. The majority were males (76%), young age (mean age 31 years), and expatriates specifically from South Asia (55%). The most common injury was due to self-inflicted cutting and piercing (51%) followed by jumping from height (30%). Females chose jumping from high place more often as a method of suicide attempt (59% vs. 20%), while males chose self-stabbing or cutting their throat (59% vs. 25%) (P = 0.001). Most of the patients had head injuries (30%) that was severe in terms of abbreviated injury scale score (3.6 ± 0.9). More than half (54%) of the patients required psychiatric consultations. The in-hospital mortality was 8% which was comparable in both genders. CONCLUSIONS: The present study revealed that 1.8% of trauma admissions at HTC were related to suicidal attempts. Better understanding of risk factors is important in devising preventive strategies.

Invasive rhinocerebral mucormycosis in a patient with liver cirrhosis leading to fatal massive stroke.

Immunocompromised status is associated with invasive fungal infections including mucormycosis. These infections are challenging to treat and associated with high overall mortality. Here we report a fatal case of invasive mucormycosis in a cirrhotic, diabetic patient. Despite the swift diagnosis and management; the fungal invasion of the right internal carotid artery lead to massive ischemic stroke. Timely diagnosis and management is crucial for management but it seems not always enough and new approaches for treatment must be sought.

Hamartoma of the urinary bladder in a 15-year-old boy.

Hamartoma of the bladder is an unusual entity described in only eleven patients to date. It may present as painless hematuria, irritative urinary tract symptoms, or inability to void or it may be diagnosed incidentally. Hamartoma of the bladder may be isolated or occur as part of a syndrome. No isolated bladder hamartoma to date has shown malignant potential. We describe here a bladder hamartoma in a 15-year-old boy.