Uncommon Site Research Articles

Primary Dedifferentiated Liposarcoma of the Colon - Report of a Rare Case with Review of Literature

Liposarcoma is the most common malignant soft tissue tumor in adults. Extremities and retroperitoneum are the common sites of involvement of liposarcoma. Liposarcoma of the gastrointestinal tract is rare and the colon is an extremely uncommon site. Mesenchymal tumors of the bowel are mainly represented by gastrointestinal stromal tumors (GIST). A sixty-one-year-old male patient presented with abdominal pain and distension. Contrast-enhanced computerized tomography (CECT) showed a circumferential

An uncommon site of breathing circuit leak: Crack-ing the code!!

An uncommon site of breathing circuit leak: Crack-ing the code!!

A case of cornual molar ectopic pregnancy: Salutary lesson from a rare disease

Cornu of the uterus is one of the uncommon sites of ectopic pregnancy. Molar cornual ectopic pregnancy is extremely rare and only few cases are reported in the literature. A 25-year-old gravida 3, para 1, abortion 1 lady reported with complaints of amenorrhea of 9 weeks and pain in the lower abdomen for 1 day. Sonography revealed an anechoic structure of 20 mm at the left adnexa with evidence of hemoperitoneum. The patient was managed with laparoscopic cornuostomy. Histopathologic analysis demonstrated placental tissue with features consistent with a complete molar pregnancy. It is emphasized that histopathological examination of the retrieved tissues should be considered after each case of surgical management of ectopic pregnancy to rule out molar pregnancy.

A Rare Mesenchymal Neoplasm in an Uncommon Anatomical SiteSolitary Fibrous Tumour of Vulva

Previously, Solitary Fibrous Tumour (SFT) was thought to originate from the pleura, a relatively rare mesenchymal neoplasm with an indolent course. Vulva is the very uncommon site of extrathoracic SFT. This is the report of a very uncommon case of vulval SFT in a 30-year-old female with complaint of a swelling over vulval region. Fine Needle Aspiration Cytology (FNAC) of the growth was attempted twice and only blood was aspirated. The swelling was excised completely. On histological examination, the sections revealed a cellular tumour of ovoid-to-fusiform spindle cells with indistinct cell borders, with haphazard arrangement or patternless pattern along with proliferation of variable sized blood vessels. The diagnosis was finalised to be a benign stromal tumour (most probably SFT), which was confirmed on immunohistochemical examination using Cluster of Differentiation 34 (CD34), CD99 and Signal Transducer and Activator of Transcription 6 (STAT6) markers.

Polymorphous adenocarcinoma of the parotid – An uncommon site of occurrence

Polymorphous low-grade adenocarcinoma is a neoplasm of the minor salivary glands and is malignant in origin but is indolent in nature. Currently, this neoplasm is documented and known as polymorphous adenocarcinoma (PAC) by WHO Classification of Salivary Gland Tumors (2017). Of all the salivary neoplasms, minor salivary gland neoplasm accounts for 9%–23%. Very rarely, it involves major salivary glands such as parotid, submandibular, and sublingual in <5% cases. It may develop either de novo or from pleomorphic adenoma. PAC mimics some benign as well as malignant neoplasms. Histopathological features alone cannot diagnose PAC due to the overlapping features with other neoplasms, and so immunohistochemistry is essential to confirm the diagnosis and hence aids in the proper management of PAC. We report a case of PAC arising from parotid gland in a 52-year-old male treated with facial nerve preservation.

Dermatofibrosarcoma Protuberance (DFSP) of Parotid Gland – A Case Report

Dermatofibrosarcoma protuberans (DFSP) is a rare slow-growing low-grade dermal sarcoma typically found on the chest or proximal extremities. Uncommon sites include the head, face, and neck area. This tumor is locally invasive but has low distant metastasis. DFSP shows CD34 immuno-reactivity and hence required tissue biopsy for diagnosis. The case describes an unusual occurrence of dermatofibrosarcoma protuberance arising from the parotid gland.

Profile of paediatric tuberculosis mastoiditis -a case series

Tuberculosis (TB) otitis media is an uncommon site of extrapulmonary TB and can primarily present as a complicated TB mastoiditis (TBM). This complication is rare in children, even in TB endemic areas but necessitates early identification as delays can lead to severe morbidities. We describe the clinical characteristics as a case series to raise awareness of the condition, and highlight fundamentals related to diagnosis and management.A retrospective chart review of clinical and radiological information of five children with TBM seen at the Red Cross War Memorial Children's Hospital in Cape Town, South Africa, over the last 5 years. Variables collected included symptomatology, duration of disease, investigations and management.All were under 5 years of age and presented with typical features of acute bacterial mastoiditis. Mean duration of symptoms was 12 days (range 3-30 days). Two children had known TB contacts. Two children had pulmonary involvement, one with miliary TB. CT of the temporal bone demonstrated extensive bony destruction of the petromastoid and demineralised ossicles in all cases. Three children had intracranial extension. Four children demonstrated hearing loss between 30 dB and 83 dB. Necrotising granulomatous inflammation was present in the mastoid specimens in all cases. Confirmatory diagnosis was made via GeneXpert polymerase chain reaction (PCR) (2), Ziehl-Nielson (ZN) stain (1) or a positive TB culture (2). Postoperatively, one patient had normal hearing, two patients had mild conductive hearing loss (CHL), one had mild-moderate CHL and one had profound hearing loss.Delays in identification and management result in marked bony destruction and hearing loss. Radiological and surgical findings typical of TBM, therefore, require tissue sampling from the ear for urgent microscopic, PCR and histologic testing, allowing the avoidance of a mastoidectom. In a TB endemic setting, children with typical findings and necrotising granulomatous inflammation on histology should be considered for prompt commencement of anti-TB therapy while awaiting a definitive diagnosis.

English

Carcinoid is an uncommon tumour in ovary comprising 0.1 % of primary ovarian neoplasms and 1 % of all carcinoid tumours. It was first described by Stewart et al. in 1939 following which many case reports have come out.1They usually occur in the peri-menopausal age. Primary ovarian carcinoids are usually unilateral, but can show a cystic teratoma or mucinous neoplasm in the same or opposite ovary. Histological variants include insular, stromal, trabecular, and mucinous among which insular is the most common type, and around 30 % of them are associated with a carcinoid syndrome. Insular type is reported to be more common in western countries, whereas trabecular / stromal cases are more reported in Asian countries. Most carcinoids in ovary are diagnosed as an incidental radiological finding as an abdominal or pelvic mass or they may present with typical carcinoid syndrome - diarrhoea, flushing, bronchospasm, oedema, increase skin pigmentation, carcinoid heart disease. Another uncommon presentation is severe constipation associated with peptide YY production in the tumour. The clinical behaviour of carcinoid ranges from indolent unrecognisable to highly active metastatic secretory tumours. Carcinoid ovary being an uncommon tumour presenting in an uncommon site with varied presenting features, clinical confusion may lead to delayed diagnosis and management for patient. This case report aims to describe the clinicopathologic features of primary carcinoid ovary presenting in a female with severe constipation.

Predictors of uncommon location of sentinel nodes in endometrial and cervical cancers

ObjectiveSentinel node mapping is widely used in the treatment of gynecologic cancers. The current study aimed to identify predictors of uncommon sentinel lymph node (SLN) locations. MethodsThe current study included women who were operated for endometrial or cervical cancer with attempted sentinel lymph node mapping during surgical staging. Data were collected from electronic charts. The pelvis and the external ilia and obturator basins were common node locations. Para-aortic, pre-sacral, common iliac, internal iliac, and parametrial nodes were considered uncommon locations. We conducted analyses stratified according to common, uncommon, and very uncommon (para-aortic, pre-sacral, parametrial) node location sites. ResultsA total of 304 women were enrolled in the current study; 15.8% had SLN in uncommon locations and 4.3% had very uncommon node locations. Body mass index (BMI) was a negative predictor for uncommon SLN locations (OR 0.88, p = 0.03). The use of either indocyanine green (ICG) or Tc99 & blue dye was an independent predictor for uncommon SLN locations (OR 8.24, p = 0.006). More recent surgeries and the presence of positive nodes were independent predictors for very uncommon node locations (OR 2.13, p = 0.011, and OR 9.3, p = 0.002, respectively). ConclusionsBMI, tracer type, surgical year, and positive nodes were independent predictors for uncommon SLN locations. These findings suggest that surgical effort, technique and experience may result in better identification of uncommon SLN locations.

The Risk Factors for Developing Clustered Vertebral Compression Fractures: A Single-Center Study

ObjectiveVertebral compression fractures (VCFs) are common among elderly individuals, but clustered VCFs (C-VCFs) are rare and more severe. The risk factors for C-VCFs remain unclear. Thus, we investigated the clinical characteristics of C-VCFs to identify the imminent fracture risk and improve the treatment for such patients. MethodsWe reviewed the records of patients with VCF at a single medical center between January 2011 and September 2020. Patients who had 4 or more VCFs within 1 year were categorized into the C-VCF group, and the remaining patients were paired into the control group at a ratio of 2:1. We collected demographic, clinical, laboratory, and radiologic information regarding these patients. Univariate analyses, stratified analyses, and multivariate logistic regression were performed to identify the risk factors for C-VCFs. ResultsA total of 156 patients were enrolled, of whom 52 were patients with C-VCF. Patients with C-VCF had more severe fractures and pain, with fractures occurring at uncommon sites of the spine. The independent risk factors for C-VCFs included glucocorticoid (GC) treatment (P < .001; hazard ratio [HR], 12.7), recent fracture history (P = .021; HR, 5.5), and lower trabecular bone score (TBS) (P = .044; HR, 1.6). TBS and bone mineral density had greater predictive values in patients without GC treatment (P < .001). Sex, age, and bone turnover biomarkers were not independent risk factors for C-VCFs. ConclusionC-VCFs are rare adverse consequences of severe osteoporosis, for which GC treatment, recent fracture history, and lower TBS are unique risk factors that are valuable for the early identification and prevention of C-VCFs.

An umbilical epidermoid cyst attached to embryonic vestigial remnant in 12-year-old boy

Epidermoid Cysts are benign lesions that can occur anywhere on the body – most frequently on the face, neck, scalp and the trunk, but are rarely found in the umbilicus. Here, we report a case of umbilical epidermal cyst attached to an embryonic remnant in a 12-year-old boy, present since four years prior. Upon examination, the child had no complaints and the lesion had a round shape with no discharge or pain. During the operation, a tubular structure attached to the lesion was found. Both the lesion and attached structure were excised and the diagnosis of the former was confirmed by biopsy and histological examination. We report and discuss this case because the umbilicus is an uncommon site for epidermoid cysts in children and is rarely found attached to embryonic remnants. To the best of our knowledge, only three cases of umbilical epidermoid cysts in children have been reported in English literature.

Rare presentation of cardiac tamponade secondary to myocardial metastasis from breast cancer

Cardiac tamponade is a rare presentation of metastatic disease. The estimated incidence of pericardial effusions in patients with breast cancer is about 2.1%. Myocardial metastasis an uncommon site of cardiac metastasis, (29–32%) after pericardial and epicardial involvement respectively. The increasing incidence of cardiac metastasis likely corresponds to an increase in life expectancy from modern oncologic treatment.

A case of esophageal squamous cell carcinoma metastasized to the colonic anastomotic site of right hemicolectomy

Abstract Introduction/Objective Although squamous cell carcinoma of the esophagus rarely metastasizes to the uncommon sites, colonic metastasis from squamous cell carcinoma of the esophagus is extremely rare. There has been no case report of colonic metastasis from squamous cell carcinoma of the esophagus to an anastomotic site of the colon. Methods/Case Report A 73-year-old female with a history of right hemicolectomy for advanced ascending colon cancer in 2006 was referred to our facility for a two-month history of solid food dysphagia. The patient has been followed up in the survivorship clinic for surveillance with no evidence of recurrence for 13 years to date. An esophagogastroduodenoscopy revealed a 7 cm fungating and ulcerated mass in the middle to lower esophagus. The biopsy from the esophageal mass showed a moderately to poorly differentiated squamous cell carcinoma. A colonoscopy showed an end-to-end ileocolonic anastomosis with a 7 mm ulceration in the transverse colon. The biopsy from the ulceration at the anastomotic site showed a moderately to poorly differentiated squamous cell carcinoma. Immunostains performed on both esophageal and colonic biopsies demonstrate that the tumor cells in both esophageal and colonic biopsies are positive for p40, p63, p16, and negative for CK7, CK20, and CDX2. The diagnosis of metastatic esophageal squamous cell carcinoma to the colonic anastomotic site of previous right hemicolectomy was rendered based on the morphology and immunoprofile. A subsequent computed tomography (CT) and positron emission tomography (PET) demonstrated no other distant metastases. Chemotherapy with 5-FU and oxaliplatin has been started. A metastasis to the anastomotic site is extremely rare. Although the anastomotic site might be a good niche for cancer cells to metastasize to, the pathogenesis of a metastasis to the anastomotic site remains unknown. Our case is very intriguing because a metastasis occurred at the anastomosis site, and no other metastasis was found. Results (if a Case Study enter NA) N/A Conclusion We have reported the first case of metastatic esophageal squamous cell carcinoma to the colonic anastomotic site of previous right hemicolectomy in a 73-year-old female. Although the pathogenesis of a metastasis to the anastomotic site remains unknown, the possibility of contribution of surgical trauma to metastasis formation at the ileocolonic anastomosis cannot be completely ruled out.

Difference analysis of somatic mutations between deficient mismatch repair and proficient mismatch repair gene related with colorectal cancer

Objective: To analyze the difference of somatic mutation of DNA mismatch repair (MMR) protein deletion (dMMR) /integrity (pMMR) in colorectal cancer (CRC). Methods: A total of 93 cases of paraffin pathological tissue derived from CRC patients underwent surgical treatment and postoperative routine immunohistochemical diagnosed as dMMR in the Second Affiliated Hospital of Zhejiang University Medical College from January 2015 to January 2017 were collected and conducted the second-generation sequencing test. The expressions of 4 MMR proteins (MLH1, MSH2, MSH6 and PMS2) in CRC tissue were detected by immunohistochemistry method, and the immunohistochemistry results were re-interpreted according to the American Association of Pathologists (CAP) standard. Second-generation sequencing technology was used to detect somatic mutations of 41 genes in 93 cases of paraffin pathological CRC tissue, and Fisher's exact test was used to analyze the gene mutation differences between groups. Results: After re-evaluation according to CAP standard, 31 cases were divided into pMMR group and 62 cases in dMMR group among the 93 CRC patients. The medium number of gene mutations in the dMMR group was 9.5, higher than 3.0 of the pMMR group (P<0.001). Somatic mutation differences were found in 17 genes between the dMMR and pMMR groups, including breast cancer susceptibility genes 1 (BRCA1), BRCA2, MLH1, PDGFRA, PIK3CA, APC, ATM, KIT, MET, PMS2, MSH6, POLE, MSH2, PTCH1, epidermal growth factor receptors (EGFR), TP53 and ERBB2 genes. The pathogenic somatic mutation rates of BRAF, MLH1, MSH2 and MSH6 in the dMMR group were higher than those in the pMMR group [21.0% (13/62) vs 9.7% (3/31), 9.7% (6/62) vs 0 (0/31), 21.0% (13/62) vs 0 (0/31), 22.6% (14/62) vs 0 (0/31), P<0.05]. The mutation rate differences of BLM N515fs, BRAF V600E, PTCH1 R1308fs and KRAS G13D sites were statistically different between the dMMR group and the pMMR group [22.6% (14/62) vs 0 (0/31), 19.4% (12/62) vs 3.2% (1/31), 11.3% (7/62) vs 0 (0/31), 16.1% (10/62) vs 3.2% (1/31), P<0.05]. The mutation rates of 3 uncommon sites including BLM N515fs, MSH6 F1088fs and PTCH1 R1308fs were 28.2% (11/39), 15.4% (6/39) and 15.4% (6/39) in patients with dMMR who were missing MLH1 and PMS2 together, statistically different from all of 0 (0/31) in pMMR patients (P<0.05). Conclusions: CRC Patients with dMMR have more related gene somatic mutations. The BRAF V600E mutation is closely related to dMMR. KRAS G13D, BLM N515fs and PTCH1 R1308fs mutation sites are also associated with the expression of MMR proteins.

S2768 An Uncommon Presentation of Elevated Liver Function Tests

Introduction: The most common causes of elevated liver function tests (LFTs) are nonalcoholic fatty liver disease and alcoholic liver disease. Uncommon causes include drug-induced liver injury, hepatitis B and C, and hereditary hemochromatosis. Rare causes include alpha1-antitrypsin deficiency, autoimmune hepatitis, and Wilson disease. Extrahepatic sources, such as thyroid disorders, celiac sprue, hemolysis, and muscle disorders, are also associated with mildly elevated transaminase levels. Case Description/Methods: A 61-year-old female with a history of Chronic lymphocytic leukemia (CLL) diagnosed in 2014 with confirmed remission for at least 7 years presented to the Hepatology clinic for evaluation of elevated LFTs. Extensive serological workup was negative. Ultrasound imaging showed hepatomegaly. Fibroscan showed K3 fibrosis kPa 10.3. MRI abdomen elastography showed liver fat fraction measures 16 %, consistent with mild steatosis (Figure 1). Liver elasticity measures 3.83 KPa consistent with F1 or F2 fibrosis. She underwent a liver biopsy which showed stage 3 fibrosis as well as chronic lymphocytic leukemia/small lymphocytic lymphoma predominantly CD20-positive B-cells. The B-cells are positive for CD5, CD23, BCL2 and LEF1, negative for CD10, BCL6, cyclin D1 and SOX11, the proliferation index (Ki-67) is low. CD3-positive reactive T-cells are seen. There was no morphologic evidence of large cell transformation. A multidisciplinary consensus was made to monitor her labs with no further treatment of her CLL at this time. Discussion: Chronic lymphocytic leukemia (CLL) is the most commonly diagnosed leukemia in the U.S. Can involve different sites in the body including Spleen, and also Lymph nodes. Physicians should be aware of different uncommon presentations and sites of involvement that are possible in CLL. Here we presented a case of liver involvement to increase awareness.Figure 1.: The showed liver fat fraction measures 16 %, consistent with mild steatosis. Liver elasticity measures 3.83 KPa consistent with F1 or F2 fibrosis.

Mucoepidermoid Carcinoma: Presentation at an Uncommon Site

Mucoepidermoid Carcinoma: Presentation at an Uncommon Site

Testicular mass: a rare presentation of Richter's syndrome

BackgroundRichter’s syndrome is the transformation of indolent lymphoma into an aggressive form, most commonly diffuse large B cell lymphoma. Most patients are known to have chronic lymphocytic leukemia. Richter’s syndrome arises in the lymph nodes or bone marrow and rarely presents with extra nodal involvement.Case presentationOur patient presented with Richter’s syndrome at an extremely uncommon site, i.e., testis. This is the fourth case reported in literature. Moreover, our case represents the longest follow-up reported so far with recurrence-free survival of more than 2 years now.ConclusionTesticular mass in a patient with a history of chronic lymphocytic leukemia should raise the clinical suspicion of Richter’s syndrome and accordingly the patient should be thoroughly investigated and treated. Treatment needs multidisciplinary team approach: urologist, pathologist and hematologist.

Hepatocellular carcinoma with uncommon sites of metastasis: a rare case report

BackgroundHepatocellular carcinoma (HCC) is a highly malignant tumor, causing both intrahepatic and extrahepatic metastases. The extrahepatic metastasis occurs in one-third of patients with HCC and it is associated with a poor prognosis. The most common sites of extrahepatic metastasis are lung, regional lymph nodes, bone, adrenal glands, and peritoneum/omentum. Detection of such extrahepatic metastasis plays a vital role in the staging and treatment planning of HCC.Case presentationA 60-year-old man was presented to our centre with loss of apetite, generalised weakness, and weight loss. Abdominal examination revealed a firm lump in the right hypochondrium. CT findings revealed a large well-defined hypodense mass in almost entire right lobe of the liver. A well-defined oval, heterogeneously enhancing soft tissue mass lesions were also noted in both adrenal glands and psoas muscles. For histopathological diagnosis, percutaneous ultrasound-guided truecut biopsy was done from right lobe liver mass confirming well differentiated HCC.ConclusionsIn the present case report, we present an extremely rare and unique case of HCC with disseminated skeletal muscle metastasis with concomitant bilateral axillary lymph node metastasis. It is crucial for radiologists to detect such extrahepatic sites of metastasis initially at the time of diagnosis for accurate staging and treatment planning for a better prognosis.

Extragingival benign growth-Case report at a rare site

To present a case report of extragingival pyogenic granuloma on lower lip which is an uncommon site for pathological entity and also to emphasize the reason for its occurrence. Pyogenic granuloma (PG) is a benign vascular neoplasm more often appear as lobulated or smooth red nodular lesion commonly in gingiva. Extragingival occurrence of PG is very rare. The present article reports a rare case of 55-year-old female with PG presenting rapid growing mass on the lower lip. This article highlights the possibility on the reason for its occurrence which is important for the diagnosis in this atypical location. The primary etiology of lower lip lesion is trauma and contributory factors being poor oral hygiene and betel quid chewing. Pyogenic granuloma is one of the common lesions in oral cavity. This article highlights the pyogenic granuloma on lip which is an unusual site. Although it can be diagnosed clinically, atypical presentations lead to inappropriate diagnosis. Therefore, further investigation by biopsy confirms final diagnosis upon which treatment is instituted.

EBV-Driven Lymphoproliferative Disorders and Lymphomas of the Gastrointestinal Tract: A Spectrum of Entities with a Common Denominator (Part 1).

Simple SummaryEpstein–Barr virus (EBV) infection usually occurs early in life. The virus persists throughout the lifespan in a latent phase mainly in B lymphocytes of immunocompetent hosts. Conditions of immunosuppression of variable origins may favor the emergence of EBV-linked lymphoid proliferations. This group of disorders, having EBV as common denominator, encompasses entities ranging from indolent diseases to aggressive lymphomas. In this review, consisting of three parts, we focus on EBV-linked lymphoid proliferations which may occur in the gastrointestinal tract. Our aim is to summarize the salient clinical, pathological, molecular and therapeutic data of this group of heterogeneous entities, often showing overlapping morphologic and immunophenotypic features despite the different clinical behavior. The correct diagnosis is essential in order to adopt the adequate treatment. In this part of the review, the available data on EBV biology, EBV-positive mucocutaneous ulcer, EBV-positive diffuse large B-cell lymphoma, not otherwise specified and classic Hodgkin lymphoma are discussed.EBV is the most common persistent virus in humans. The interaction of EBV with B lymphocytes, which are considered the virus reservoir, is at the base of the life-long latent infection. Under circumstances of immunosuppression, the balance between virus and host immune system is altered and hence, EBV-associated lymphoid proliferations may originate. These disorders encompass several entities, ranging from self-limited diseases with indolent behavior to aggressive lymphomas. The virus may infect not only B-cells, but even T- and NK-cells. The occurrence of different types of lymphoid disorders depends on both the type of infected cells and the state of host immunity. EBV-driven lymphoproliferative lesions can rarely occur in the gastrointestinal tract and may be missed even by expert pathologists due to both the uncommon site of presentation and the frequent overlapping morphology and immunophenotypic features shared by different entities. The aim of this review is to provide a comprehensive overview of the current knowledge of EBV-associated lymphoproliferative disorders, arising within the gastrointestinal tract. The review is divided in three parts. In this part, the available data on EBV biology, EBV-positive mucocutaneous ulcer, EBV-positive diffuse large B-cell lymphoma, not otherwise specified and classic Hodgkin lymphoma are discussed.