Gastric myeloid sarcoma mimicking pseudoachalasia in non-leukemic context: a singular case report.

Introduction and importance: Myeloid sarcoma (MS) is a rare tumour associated with acute myeloid leukaemia (AML) and occasionally occurs independently. It typically affects skin, bone, lymph nodes, and rarely the gastrointestinal tract, with gastric cases being extremely rare. Notably, no reported instances associate pseudoachalasia with gastric myeloid sarcoma. Case presentation: A 20-year-old male presented with severe dysphagia, refractory vomiting, and weight loss. Diagnosed with type III achalasia via oesophageal tests, subsequent gastroscopy revealed a large gastric mass, later identified as gastric myeloid sarcoma through histopathology. Clinical discussion: MS, characterized by immature blast cells, poses diagnostic challenges without typical leukaemia symptoms. Diagnosis involves immunohistochemistry, employing markers like CD33, CD34, and CD43. Optimal treatments, such as chemotherapy or stem cell transplantation, aim to delay leukaemia progression. Gastric primary de-novo myeloid sarcoma is exceedingly rare, emphasizing the need for tailored treatment strategies. Conclusion: Gastric myeloid sarcoma is an exceptionally rare tumour, especially without concurrent acute myeloid leukaemia (AML), complicating its diagnosis. This case represents the first globally documented instance of gastric myeloid sarcoma causing pseudoachalasia. Documenting this unique clinical presentation is crucial for a better grasp of gastric myeloid sarcoma's diverse manifestations.

Sarcoid-like reaction and hypothyroidism induced by PD-1 inhibitor treatment in metastatic renal cell carcinoma: a case report and literature review.

BACKGROUND: Pembrolizumab is among the approved treatments for a variety of cancer types, including clear cell renal cell carcinoma (ccRCC). It has contributed to enhancing the prognosis of renal cell carcinoma. However, it is essential to be aware of the numerous potential immune-related side effects associated with its use. CASE PRESENTATION: A 69-year-old patient with a history of metastatic renal cell carcinoma has been undergoing treatment with Pembrolizumab, an immune checkpoint inhibitor. The medication has led to the development of a sarcoid-like reaction, initially misinterpreted as cancer recurrence and progression. Additionally, the patient has experienced new-onset hypothyroidism, which has been attributed to the immunotherapy. CONCLUSION: Clinicians, including oncologists, endocrinologists, and radiologists, should maintain a high level of suspicions and awareness regarding the potential adverse events associated with newly introduced immunotherapies like pembrolizumab. This knowledge is crucial for the accurate diagnosis and appropriate management of patients receiving these treatments.

Eosinophilic Fasciitis Presenting as Chronic Nonspecific Symptoms in a Young Adult.

Eosinophilic fasciitis (EF) is a rare inflammatory disease affecting various connective tissues. It is characterized by induration of the skin as well as scleroderma-like manifestations that are progressive and bilaterally symmetrical. Additionally, the joints and muscles are commonly involved, and rarely, there can be involvement of internal organs. The diagnosis of EF is based on clinical, laboratory, radiological, and a full-thickness skin biopsy involving the fascia. The biopsy is often diagnostic and shows eosinophilic inflammation. Systemic corticosteroids specifically prednisone and prednisolone remain the preferred treatment of choice and may be combined with immunosuppressive therapy in a subset of patients. We herein report a patient complaining of chronic nonspecific symptoms that were diagnosed with EF. The patient was treated with steroids with marked improvement of his overall condition.

Metastasis of incidentally diagnosed renal cell carcinoma to the sacrum 7 years after partial nephrectomy: Case report and literature review.

INTRODUCTION: After undergoing partial nephrectomy for renal cell carcinoma (RCC), approximately 20-40 % of patients may develop either distant metastatic disease or locally recurring disease. Delayed occurrence of metastasis is an important aspect to consider in the management and monitoring of patients with renal cell carcinoma. CASE PRESENTATION: A 69-years-old male who had been followed up for liver hemangioma, an incidental enhancing right renal mass was discovered which then revealed to be renal cell carcinoma on computed tomography scan. The patient underwent a partial nephrectomy in 2016without any reported complications, complaints, adverse event and/or re-admissions. Seven years following the surgery, the patient began experiencing left hip pain, leading him to seek medical advice which is then confirmed to be a cancerous metastasis of the renal origin. CLINICAL DISCUSSION: Advocating for extended surveillance protocols is important to ensure that patients receive optimal care and that any disease progression is identified promptly. Early detection and intervention may lead to better treatment outcomes and improved patient survival. Therefore, continued vigilance and close monitoring of patients with RCC, even after long periods of disease-free survival, are essential components of comprehensive cancer care. CONCLUSION: This case highlights the challenges in predicting and detecting the occurrence of metastases in renal cell carcinoma despite regular surveillance and follow-up examinations. The delayed appearance of the metastatic lesion underscores the importance of continued vigilance and thorough monitoring even in cases where initial imaging and blood tests appear unremarkable in patients with renal cell carcinoma.

Rosai-Dorfman disease presenting as autoimmune hemolytic anemia in a male child in Palestine: a case report.

Rosai-Dorfman disease (RDD) is a rare, benign non-Langerhans cell histiocytosis predominantly affects lymph nodes and skin. Despite its benign nature, RDD can cause serious hematological complications. A 14-year-old male, presented with 3-month history of hemolytic anemia, lymphadenopathy, hepatosplenomegaly and rash. After thorough investigation, RDD was diagnosed by mediastinal lymph node biopsy that revealed presence of S100 and CD68-positive cells with absence of CD1a confirming the diagnosis of RDD. Treatment involved combination of steroids and Rituximab, which proved to be highly effective. The patient had dramatic improvement and entered remission, with follow-up period of 2 years. It is important to note that although RDD is a rare disease, it causes severe complications, as evidenced by the patient's parameters. Thus, prompt diagnosis and treatment are paramount. Histological diagnosis is of great value, as it helps confirming and guiding treatment decisions. With the right treatment, patients can experience great recovery and quality of life.

Pleuropulmonary blastoma type I presenting as a tension pneumothorax: a case report and review of the literature.

Pleuropulmonary blastoma (PPB) is a very rare, aggressive, embryonal pulmonary malignancy that mostly affects children under the age of 5 years. According to the histological features, three subtypes of PPB have been recognized: type I (purely cystic), type II (grossly visible cystic and solid elements), and type III (purely solid). The authors report a case of a 10-month-old male infant with type I PPB, who was clinically misdiagnosed with pneumothorax, that he presented complaining of shortening of breath, fever, and cough. Radiographs of the patient showed right pneumothorax, so he had managed accordingly in another centre without improvement. Then Computed Tomography showed a huge right upper lobe sepated pneumocyst, which was treated surgically and the diagnosis was confirmed by combining the imaging and the histopathological examination as PPB type I. PPB is a relatively rare tumour, and it is important to put PPB with their subtypes within the differential diagnoses of any pulmonary lesion in children below the age of 5 or 6 years, as the early diagnosis will help to give early management. Hence, the patient may have a better outcome.

Pancreatic duplication cyst misdiagnosed as distal pancreatic tumor: A case report and surgical approach.

Enteric duplication cysts (EDCs) are a benign and uncommon congenital malformation, with a nonspecific and extremely variable clinical presentation. EDCs associated with the pancreas are called pancreatic duplication cysts (PDCs). They are especially rare and can present with recurrent abdominal pain or even severe pancreatitis. These cysts often get confused with pancreatic neoplasms or pseudocysts, thus posing diagnostic and surgical challenges. Here, we report a case of a 20-year-old male patient with a 14-year history of recurrent abdominal pain and many hospital admissions, who had several imaging studies revealing a persistent focal heterogeneous lesion affecting the tail of the pancreas, surrounding a small pseudocyst. An ultrasound (U/S) guided biopsy was avoided due to the location of the mass. Surgical resection was carried out for the suspicion of malignancy and final pathology report showed benign findings while revealing that what was thought to be a pseudocyst turned out to be a gastric-type PDC, and after reviewing the available literature, we encountered 16 similar cases regarding misdiagnosing PDCs. We conclude that PDCs are very rare and have a variable clinical presentation as well as a likelihood of being confused with other pancreatic neoplasms. Therefore, PDCs need a high index of suspicion to avoid recurrent hospital admissions and unnecessary procedures due to the fact that sometimes a simple cystectomy is adequate.

Pseudodiverticulum of the Cervical Esophagus With Remnant of Branchial Tissues in a Newborn: A Case Report.

Congenital pseudodiverticula of the esophagus are very rare. This case report describes the presentation, management and histopathology of a peudodiverticulum of the cervical esophagus in a neonate. The infant presented with respiratory distress and a right neck mass that required surgical excision. Pathology revealed a pseudodiverticulum that contained ectopic thymic, thyroid, and parathyroid tissue within the wall of the lesion. The presence of ectopic tissues of branchial origin and an aberrant right subclavian artery suggest an error in branchial development and neural crest cell migration.

Case report: "Congenital cutaneous langerhans cell histiocytosis presenting with blueberry Muffin Rash".

Congenital cutaneous Langerhans cell histiocytosis-(LCH), named Hashimoto Pritzker disease, is a rare subtype among the clinical spectrum of LCH that often presents at birth or through the neonatal term and spontaneously resolve within a few months. In rare instances, infants with congenital cutaneous LCH may present with a blueberry-muffin rash. We reported a case of a male newborn who presented with blueberry muffin rash and was diagnosed with congenital cutaneous LCH later on. The diagnosis was confirmed by excluding other possible systemic causes of blueberry muffin rash, followed by a skin biopsy. Skin biopsy showed reticular dermis-hypodermis infiltration by medium-sized cells which had a pale eosinophilic cytoplasm and irregular nuclei. The lesional cells were positive for Langerin, CD1a, S100, and CD68 immunostains, consistent with congenital cutaneous LCH. Investigations were performed and revealed no systematic disease involvement. After a discussion with the pediatric Hemato-Oncologist, the decision was to keep track of a "wait-and-see" approach. Long-term follow-up revealed no recurrence of the cutaneous lesions or any systemic involvement, which further leads to congenital cutaneous LCH diagnosis. Even though it is very rare, blueberry muffin rash differential diagnosis should include congenital cutaneous LCH. Early recognition of this condition protects patients from unnecessary and possibly unsafe systemic treatment.

Bladder Exstrophy Polyp: An Uncommon Entity in Surgical Pathology.

Background: Bladder exstrophy is a congenital malformation occurring more commonly in males. The occurrence of polyps in these bladders represents a well-known phenomenon to the treating urologist. However, they might not be as familiar to pathologists since they are generally not biopsied. Case report: We present a male infant who was diagnosed with bladder exstrophy and epispadias at birth. He subsequently underwent surgical repair of the malformation with bladder polypectomies at 7 months of age. Pathologic examination showed multiple polyps with extensive squamous metaplasia of surface urothelium. Von Brunn nests, cystitis cystica, and cystitis glandularis with focal intestinal metaplasia were noted at variable depths within polyps. These epithelial nests were surrounded by concentric fibrosis. Conclusion: Bladder exstrophy polyp is a distinct pathologic entity with a combination of various nonspecific findings. Pathologists should be cognizant of the histologic spectrum of this uncommon entity.

Primary malignant vascular tumors of the liver in children: Angiosarcoma and epithelioid hemangioendothelioma.

Primary malignant vascular neoplasms of the liver, angiosarcoma and epithelioid hemangioendothelioma, are extremely rare entities in the pediatric population. International Society for the Study of Vascular Anomalies classification system is recommended for the pathologic diagnosis of hepatic vascular lesions in this age group. In this article, we highlight the clinicopathologic characteristics of hepatic angiosarcoma and epithelioid hemangioendothelioma in the pediatric population. Hepatic angiosarcoma in children shows a slight female predominance with an average age of 40 mo at diagnosis. The distinct histologic features include whorls of atypical spindled cells and eosinophilic globules, in addition to the general findings of angiosarcoma. Histologic diagnosis of pediatric hepatic angiosarcoma is not always straightforward, and the diagnostic challenges are discussed in the article. Hepatic epithelioid hemangioendothelioma also demonstrates a female predominance, but is more commonly identified in adolescents (median age at diagnosis: 12 years). Histologically, the lesion is characterized by epithelioid cells and occasional intracytoplasmic lumina with a background of fibromyxoid stroma. While WWTR1-CAMTA1 and YAP1-TFE3 fusions have been associated with epithelioid hemangioendothelioma, there are currently no known signature genetic alterations seen in pediatric hepatic angiosarcoma. Advancement in molecular pathology, particularly for pediatric hepatic angiosarcoma, is necessary for a better understanding of the disease biology, diagnosis, and development of targeted therapies.

Esophageal Cytomegalovirus and Herpes Simplex virus co-infection in an immunocompromised patient: Case report and review of literature.

Herpes simplex virus and Cytomegalovirus co-infection has been reported to occur in a variety of sites in immunocompromised patients. To our knowledge, few cases of such co-infection have been reported to occur in the esophagus. We report a case of a 60-year-old woman who was maintained on immunosuppressive therapy for a presumed diagnosis of pemphigus vulgaris, who presented with odynophagia. Investigations revealed ulcerative esophagitis caused by both HSV and CMV. The patient was treated with valganciclovir with full recovery. We also present the results of various studies on patients with similar presentation particularly those caused by HSV and CMV co-infection.

Characteristics of Breast Cancer Metastasizing to Bone in a Mediterranean Population.

AIM: This study examines clinicopathological, molecular, and radiological characteristics of breast cancer metastasizing to the bone in a Mediterranean population. METHODS: Cases of breast cancer with metastasis to bone were retrieved from the pathology department archives. Descriptive statistics and bivariate inferential statistics of retrieved clinical (demographic, focality, laterality, axillary lymph node status, and metastasis-free interval), radiological (skeletal site of bone metastasis, type of bone lesion), and microscopic (grade, subtype of breast cancer, lymphovascular status, perineural status, lymph node involvement, nodal extracapsular extension, molecular subtype) data were conducted. RESULTS: Out of 123 cases analyzed, 93.5% were ductal, 90% had axillary lymph node metastasis, 60.5% were luminal A, 59.6% were osteolytic, and 54.4% had grade III. Discordance in the status of ER, PR, and HER2 between the primary breast tumor and the corresponding bone metastases was noted, with the highest rate of change reported for PR (35.7%). Significance was detected at the level of difference between the subtype of breast cancer with regards to the radiologic features where the ductal subtype was found to be mostly osteolytic while the lobular subtype was mostly either osteoblastic or mixed (p-value=0.05). The metastasis-free interval was significantly associated with the number of metastatic bone lesions (P=0.001). CONCLUSION: The significant association between metastasis-free interval and the number of metastatic bone lesions suggests that a higher interval allows more time for tumors to manifest multiple lesions. The high rate of discordance in the status of PR, ER, and HER2 was congruent with the literature highlighting the need to further investigate underlying mechanisms.

Acute disseminated encephalomyelitis and reactivation of cerebral toxoplasmosis in a child: Case report.

Toxoplasma gondii is an opportunistic parasite that infects a broad range of hosts including humans. The chronic latent phase of the disease manifests as intra-neuronal cerebral cysts tightly controlled by the host immune system. In immunocompromised patients, reactivation of cerebral toxoplasmosis can have severe neurological outcomes that may sometimes lead to death. Despite the efficient prophylactic and treatment measures taken against the rare reactivation of cerebral toxoplasmosis, many reports including several recent ones revealed the still occurrence of this spectrum of disease. We present the case of a 4 years-6 months old apparently immunocompetent child whose premortem clinical presentation and investigations were highly consistent with severe acute disseminated encephalomyelitis (ADEM). The patient received all appropriate medications with initial improvement followed by rapid deterioration and death. Postmortem brain autopsy revealed a wide reactivation of cerebral toxoplasmosis. This is a peculiar case presentation as such medical treatment for ADEM (i.e. steroids) may worsen the Toxoplasma infection with ominous consequences. This case highlights the importance to rule out the possibility of such infections in apparently immunocompetent hosts by performing the appropriate investigations to prevent complications.

Rare skeletal muscle metastasis from renal cell carcinoma: case report and review of the literature.

Renal cell carcinoma (RCC) is a tumor that usually metastasizes to lung, liver, bone and brain, but rarely to skeletal muscles. We report a case of an elderly man with a history of bilateral metachronous RCC for which he underwent curative bilateral nephrectomies and renal transplantation, was in remission, and presented with a large solitary skeletal muscle metastasis from the initial RCC, 3 years later.

Patterns of pathologically confirmed metastasis to bone in Near East population.

BACKGROUND: Metastatic tumors to bone constitute the majority of bone malignancies. The site of metastasis to bone and the prognosis depend chiefly on the primary tumor. Despite all the advances in diagnostic techniques, identifying the primary tumor has not improved significantly. METHODS: A total of 576 cases (Lebanon; n = 306, Pakistan; n = 270) presenting with microscopic evidence of metastasis to bone were reviewed between 1996 and 2016. Clinical and radiologic data were recorded. RESULTS: Out of 20 types of primary tumors, unknown primary (38.2%), followed by breast (23.8%), lung (10.4%) and thyroid (4.9%) tumors were the most commonly presenting with bone metastasis. The primary source of the tumor showed significant correlation with the site of metastasis, time lag to metastasis and radiologic presentation (p < 0.001). Interestingly, a significant variation was noted between the 2 observed populations. CONCLUSION: The patterns of pathologically confirmed metastasis to skeletal sites in Near East population showed a special distribution, and variation was even observed between the 2 studied centers. Understanding the biologic variations of the primary tumors in our population may further explain the variation in patterns of metastasis.

A Single Mass Forming Colonic Primary Mantle Cell Lymphoma.

Mantle cell lymphoma (MCL) is a subtype of non-Hodgkin's lymphoma (NHL) comprising around 7% of adult NHL. It is characterized by a chromosomal translocation t(11:14) and overexpression of Cyclin D1. The incidence of secondary gastrointestinal tract involvement in MCL ranges from 10 to 28% in various series. However primary gastrointestinal MCL is very rare, accounting for only 1 to 4% of primary gastrointestinal lymphomas. The most common endoscopic feature of primary intestinal MCL is multiple lymphomatous polyposis. In rare cases it presents as protruded lesions or superficial lesions. Single colonic mass presentation is an extremely infrequent presentation. MCL has an aggressive course with quick progression, and most cases are discovered in the advanced stages. Colonic biopsies with histologic examination and specific immunohistochemical staining are the gold standard for a proper diagnosis. We report a case of a single mass forming mantle cell lymphoma of the ascending colon in a 57-year-old female patient with unusual colonoscopic and radiologic features and describe the therapy the patient received, thereby adding to the spectrum of clinical presentations of this aggressive lymphoproliferative disorder.