Rare Isolated Duodenal Hamartomatous Polyp in an Elderly Patient.

BACKGROUND Hamartomatous polyps represent rare sporadic lesions, characterized by fibrous stroma, vascular infiltration, and dilation of mucous glands. The lesions present in a bimodal fashion in adults as well as children from 1 to 7 years old, and are often diagnosed during endoscopic procedures. Specifically, solitary Peutz-Jeghers represents a type of hamartoma that has similar histologic features to typical Peutz-Jeghers syndrome. Hamartomatous polyps represent disorganized tissue growth and can bear relationships with genetic syndromes classified as hamartomatous polyposis syndromes. A number of these syndromes, such as Peutz-Jeghers and Cowden syndrome, can demonstrate an increased risk of malignancy. A variety of symptoms, or no symptoms at all, can accompany these polyps, such as abdominal discomfort, bowel obstruction, gastrointestinal bleeding, or intussusception in severe cases. Histologically, these polyps appear similar to Peutz-Jeghers syndrome growths; however, they lack extraintestinal manifestations. Given fairly low risk of development into malignancy, patients have a good prognosis if presenting with a solitary hamartomatous polyp. There is limited data regarding screening guidelines for this patient population. CASE REPORT Here, we present a rare case of a 73-year-old woman who had a history of anemia and status post endoscopic evaluation and was diagnosed with a benign hamartomatous polyp (juvenile-like), histologically consistent with tubulovillous adenoma. CONCLUSIONS Differentiating sporadic polyps from syndromic polyps is important, as sporadic polyps have a benign course, while those associated with a syndrome have an increased lifetime malignancy risk.

Initially Suspected Anaphylaxis Following Iodinated Contrast: Jod-Basedow Phenomenon in a 73-Year-Old Female Without a History of Thyroid Dysfunction.

The Jod-Basedow phenomenon (JB phenomenon), also referred to as "iodine-induced hyperthyroidism," rarely occurs. Radiological imaging using iodinated contrast contains a dose of 300 to 1221 mg of iodine per kilogram, which can transiently induce clinically significant hyperthyroidism (referred to as Jod-Basedow Syndrome) in euthyroid patients. Hence, the reporting of such events is important for clinicians to be aware of, to prevent unnecessary iodine-based imaging. Underlying thyroid abnormalities, including latent Graves' disease, autoimmune thyroiditis, use of iodine-containing foods or medications, such as amiodarone, and Lugol's iodine have been shown to increase the risk of JB phenomenon. In terms of the pathophysiology of the JB phenomenon, when iodine exposure is in excess, increased iodine leads to increased hormone synthesis, and with an absence of auto-regulation, this can lead to thyrotoxicosis. In this case report, we describe the iodine-induced JB phenomenon in a 73-year-old female with no prior thyroid dysfunction, who was initially admitted for pyelonephritis and was eventually transferred to the intensive care unit secondary to suspected anaphylaxis.

Recurrent Hypokalemia as an Unusual Presentation for Metastatic Adrenocortical Cancer.

Adrenocortical cancer is a rare malignancy of the endocrine system. Therefore, when this malignancy presents with metastatic disease, this leads to further difficulties in management. Due to the rare and ambiguous nature of this malignancy, diagnosis is generally made at later stages, with limited options for patients. Symptoms may include weight gain/loss, muscle weakness, abdominal discomfort/bloating, hyperglycemia, hypertension, electrolyte imbalance, hirsutism and virilization in females, gynecomastia and hypogonadism in males. Due to the variety of conditions presenting with one or more of these symptoms, diagnosis can be difficult. Many adrenocortical tumors, malignant and benign, are usually detected incidentally on imaging performed for evaluation of another condition, also known as "incidentalomas." Here, we present a rare case of metastatic adrenocortical malignancy in a 56-year-old female patient who presented with isolated recurrent episodes of hypokalemia.

Aortic dissection presenting as stroke with focal neurologic deficits: A case report.

Aortic dissection is a relatively uncommon and potentially misdiagnosed disease. Early and accurate diagnosis and appropriate treatment are imperative for patient survival. In this case, we present a 55-year-old male who presented to the Emergency Department with severe abdominal pain and acute neurological deficits who was triaged for stroke protocol. After unexpected findings on physical examination, other diagnostic hypotheses were evaluated, culminating in the diagnosis of aortic dissection. The purpose of this article is to exemplify a patient who presents with noteworthy neurologic clinical features who ultimately was diagnosed with Type B aortic dissection, to help benefit the rapid diagnosis and subsequent treatment for future patients with similar presentations.

Gynecomastia and Malignancy: A Case of Male Invasive Ductal Breast Carcinoma Treated with Neoadjuvant Chemotherapy.

BACKGROUND Male breast cancer represents a rare malignancy with identifiable risk factors, including genetics, radiation exposure, liver dysfunction, and concomitant diagnosis of Klinefelter syndrome. Gynecomastia can commonly present in these patients, and despite increased estrogen levels in adipose breast tissue, gynecomastia has not been proven to be a significant risk factor for carcinoma development. Male patients with new-onset breast masses are recommended to undergo diagnostic mammograms and breast ultrasound for further evaluation. Those diagnosed with breast cancer most commonly have invasive ductal carcinoma of the breast, and over half of these patients are found to have estrogen and progesterone receptor (ER/PR) positivity. CASE REPORT In this case report, we present a Black man with gynecomastia and an areolar lesion for a 6-month duration following a traumatic event. He was initially referred to the surgical team for further evaluation, and subsequent imaging and biopsy data revealed ER/PR-positive invasive ductal carcinoma. Multidisciplinary discussions were held, and the patient was arranged to begin neoadjuvant treatment with doxorubicin hydrochloride and cyclophosphamide, followed by treatment with paclitaxel (AC-T) chemotherapy, followed by bilateral mastectomy and adjuvant hormonal therapy. CONCLUSIONS The treatment of male breast cancer has remained relatively like that of female breast cancer, which may be due to the limited data in the treatment of male breast cancer. Thus far, studies involving neoadjuvant chemotherapy of female patients have demonstrated promising responses to expand surgical options for patients and possibly decrease the rates of recurrence. Additional studies are warranted to discern optimal therapy for the male patient population.

An Unexpected Transformation: Malignant Spindle Cell Carcinoma Developed From Primary Basal Cell Carcinoma.

Spindle cell carcinoma (SpCC)/sarcomatoid carcinoma is a biphasic tumor with molecular and histopathological properties of both epithelial and mesenchymal tumors. SpCC usually occurs either in sun-exposed areas like the head, neck, upper extremities, and chest or in the areas of skin with prior radiation exposure or in immuno-suppressed individuals. Cutaneous SpCC is a very rare disease, with only a handful of reported cases so far. SpCC differs from conventional squamous cell carcinoma (SCC) with dermal infiltration of atypical keratinocytes as single cells with hyperchromatic eosinophilic cytoplasm and elongated, pleomorphic nuclei with multiple nucleoli, in contrast to cohesive nests or islands in SCC. The objective of this study is to complete a review of the current literature and present a rare manifestation of malignant SpCC which developed from a localized basal cell carcinoma following excision and radiation therapy (RT) in a 79-year-old female. We plan to elucidate the importance of a timely and accurate diagnosis of this disease in order to maximize treatment options and improve survival outcomes.

A Rare Case of Endocervical Adenocarcinoma of Gastric Type.

Gastric adenocarcinoma of the cervix (GAC) represents a rare mucinous endocervical cancer unrelated to human papillomavirus (HPV). GAC has been found to comprise approximately 10% of cervical adenocarcinomas internationally. As more cases have been identified, GAC has been further classified into subtypes such as poorly differentiated versus well-differentiated (also referred to as mucinous or adenoma malignum). This cancer coined the term "gastric" subtype due to its similarity to the pancreaticobiliary and gastric tissue lining. With limited data and similar histological and genetic features of GAC, this malignancy poses a challenge for clinicians when differentiating between metastasis from the gastrointestinal tract and GAC. Here, we present a case of a 55-year-old female who presented with postmenopausal bleeding and was found to have stage IA1 endocervical adenocarcinoma of gastric subtype. The purpose of this article is to introduce a rare type of gastric adenocarcinoma with a unique site of origin in order to better understand this disease process and potentially help clinicians better diagnose and treat patients with this malignancy in the future.

A Favorable Outcome of Grade 3 Follicular Lymphoma Treated With Surgery and Obinutuzumab Combined With Chemotherapy: A Case Report and Literature Review.

Follicular lymphoma is the most common type of low-grade non-Hodgkin lymphoma and the second most common type of lymphoma. Primary extranodal follicular lymphoma is rare compared with nodular follicular lymphoma involving the gastrointestinal (GI) tract. There has been uncertainty regarding follicular lymphomas due to the heterogeneous presentation and severity in which they present. However, studies showed that patients diagnosed with primary gastrointestinal follicular lymphoma do not typically differ in their presentation from those diagnosed with nodular follicular lymphoma involving the GI tract. Furthermore, recent literature identifies that patients diagnosed with grade 3 follicular lymphoma tend to have similar genetic and molecular entities to those diagnosed with diffuse large B-cell lymphoma (DLBCL). Based on these results, current studies have shown that patients with grade 3 follicular lymphoma who are treated with anthracycline-based regimens have similar outcomes to those with diffuse large B-cell lymphoma. However, additional studies are warranted to demonstrate the benefit of managing grade 3 follicular lymphoma with more aggressive anthracycline/rituximab-based regimens. Here, we present a case of a 44-year-old male diagnosed with grade 3 follicular lymphoma involving the gastrointestinal tract, who demonstrated an excellent treatment response following therapy similar to the treatment of bulky diffuse large B-cell lymphoma despite a tumor burden size below 7.5 cm.

Atypical Stroke-Like Presentation in a Critically-Ill Patient With Serratia marcescens Bullous Cellulitis.

Skin and soft-tissue infections are common in critically ill patients, especially with gram-positive bacteria such as Streptococcus or Staphylococcus species. However, it is imperative to consider gram-negative infections in atypical presentations of bullous cellulitis, where patients do not initially respond to common empiric therapy for skin infections. Serratia marcescens is a gram-negative organism that manifests in nosocomial settings due to its affinity for moisture-rich environments. This bacteria is often difficult to treat due to extensive antibiotic resistance, and thus treatment is generally catered towards culture sensitivity. Rarely, this bacteria is an infective agent of infective endocarditis. We present a case of a 44-year-old gentleman who presented with stroke-like symptoms and was found to have bullous cellulitis with deep wound cultures growing S. marcescens. This case report highlights an atypical, severe presentation, and aims to provide a literature review of this rare manifestation of S. marcescens in skin and soft-tissue infections. We intend to improve rapid diagnosis and proper treatment for future critically-ill patients with skin and soft-tissue infections.

Pyogenic Liver Abscess Secondary to Appendicitis.

A pyogenic liver abscess secondary to appendicitis infection is a rare manifestation that has not been well illustrated in the United States due to its infrequency and the variability of each clinical presentation. Here, we discuss a 55-year-old male who presented with abdominal pain, fever, chills, and weight loss and was found to have a pyogenic liver abscess suspected secondary to radiographic-proven acute appendicitis. The purpose of this article is to describe a patient who presented with noteworthy clinical features and a rare cause of hepatic abscess, to aid in the treatment and diagnosis of future patients.

A Case Report of Splenic Rupture Secondary to Underlying Angiosarcoma.

Primary splenic angiosarcoma is a rare type of cancer that has not been well-illustrated due to infrequency and variability in patient presentation. Limited systemic therapy regimens for splenic angiosarcoma make early detection preferable, as management focuses on monitoring for recurrence and metastatic spread or preventing hemorrhagic complications of tumor burden such as splenic rupture. This cancer, in particular, is aggressive, and metastasis is common. Here, we discuss a 68-year-old female who presented with a splenic laceration caused by an underlying primary splenic angiosarcoma. The purpose of this article is to describe a patient who presents with noteworthy clinical features and a rare complication of splenic angiosarcoma to aid in the treatment and diagnosis of future patients.

Lymphangioleiomyomatosis: A Case Report and Review of Clinical Features and Management.

Pulmonary sporadic lymphangioleiomyomatosis (LAM) is a female-dominant disease associated with smooth muscle cell proliferation, which results in cystic lung disease presenting commonly with dyspnea and pneumothorax. This article aims to present a patient with the common clinical features and complications of LAM so as to aid in the efficient diagnosis and treatment of future patients. Limited options in the management of LAM make early diagnosis key, as management focuses on supportive care to slow the progressive decline of pulmonary function. Workup includes a diagnosis of exclusion with specific antibodies or titers such as anti-Sjögren's syndrome type A (anti-SSA) antibodies, anti-Sjögren's syndrome type B (anti-SSB) antibodies, angiotensin-converting enzyme (ACE) levels, alpha-1-antitrypsin levels, and vascular endothelial growth factor (VEGF) antibodies with definitive diagnosis limited to tissue confirmation. Here, we discuss a 39-year-old female with dyspnea and spontaneous pneumothorax, who was subsequently diagnosed with LAM during her hospitalization and managed outpatient with sirolimus therapy.

Alterations in DNA Damage Response and Repair Genes as Potential Marker of Clinical Benefit From PD-1/PD-L1 Blockade in Advanced Urothelial Cancers.

Purpose Alterations in DNA damage response and repair (DDR) genes are associated with increased mutation load and improved clinical outcomes in platinum-treated metastatic urothelial carcinoma. We examined the relationship between DDR alterations and response to PD-1/PD-L1 blockade. Methods Detailed demographic, treatment response, and long-term outcome data were collected on patients with metastatic urothelial carcinoma treated with atezolizumab or nivolumab who had targeted exon sequencing performed on pre-immunotherapy tumor specimens. Presence of DDR alterations was correlated with best objective response per Response Evaluation Criteria in Solid Tumors (RECIST) and progression-free and overall survival. Results Sixty patients with urothelial cancer enrolled in prospective trials of anti-PD-1/PD-L1 antibodies met inclusion criteria. Any DDR and known or likely deleterious DDR mutations were identified in 28 (47%) and 15 (25%) patients, respectively. The presence of any DDR alteration was associated with a higher response rate (67.9% v 18.8%; P < .001). A higher response rate was observed in patients whose tumors harbored known or likely deleterious DDR alterations (80%) compared with DDR alterations of unknown significance (54%) and in those whose tumors were wild-type for DDR genes (19%; P < .001). The correlation remained significant in multivariable analysis that included presence of visceral metastases. DDR alterations also were associated with longer progression-free and overall survival. Conclusion DDR alterations are independently associated with response to PD-1/PD-L1 blockade in patients with metastatic urothelial carcinoma. These observations warrant additional study, including prospective validation and exploration of the interaction between tumor DDR alteration and other tumor/host biomarkers of immunotherapy response.

Multicenter Prospective Phase II Trial of Neoadjuvant Dose-Dense Gemcitabine Plus Cisplatin in Patients With Muscle-Invasive Bladder Cancer.

Purpose Neoadjuvant chemotherapy followed by radical cystectomy (RC) is a standard of care for the management of muscle-invasive bladder cancer (MIBC). Dose-dense cisplatin-based regimens have yielded favorable outcomes compared with standard-dose chemotherapy, yet the optimal neoadjuvant regimen remains undefined. We assessed the efficacy and tolerability of six cycles of neoadjuvant dose-dense gemcitabine and cisplatin (ddGC) in patients with MIBC. Patients and Methods In this prospective, multicenter phase II study, patients received ddGC (gemcitabine 2,500 mg/m2 on day 1 and cisplatin 35 mg/m2 on days 1 and 2) every 2 weeks for 6 cycles followed by RC. The primary end point was pathologic downstaging to non-muscle-invasive disease (< pT2N0). Patients who did not undergo RC were deemed nonresponders. Pretreatment tumors underwent next-generation sequencing to identify predictors of chemosensitivity. Results Forty-nine patients were enrolled from three institutions. The primary end point was met, with 57% of 46 evaluable patients downstaged to < pT2N0. Pathologic response correlated with improved recurrence-free survival and overall survival. Nineteen patients (39%) required toxicity-related dose modifications. Sixty-seven percent of patients completed all six planned cycles. No patient failed to undergo RC as a result of chemotherapy-associated toxicities. The most frequent treatment-related toxicity was anemia (12%; grade 3). The presence of a presumed deleterious DNA damage response (DDR) gene alteration was associated with chemosensitivity (positive predictive value for < pT2N0 [89%]). No patient with a deleterious DDR gene alteration has experienced recurrence at a median follow-up of 2 years. Conclusion Six cycles of ddGC is an active, well-tolerated neoadjuvant regimen for the treatment of patients with MIBC. The presence of a putative deleterious DDR gene alteration in pretreatment tumor tissue strongly predicted for chemosensitivity, durable response, and superior long-term survival.