Primary hepatic pleomorphic liposarcoma: Case report and literature review / Liposarcoma pleomorfo hepático primario: presentación de un caso y revisión bibliográfica

Primary hepatic liposarcoma is an extremely rare malignant tumour derived from adipocytes and is part of the group of mesenchymal tumours. We present the case of a 43-year-old Hispanic male patient with a pleomorphic hepatic liposarcoma and absence of MDM2 gene amplification. Two years and six months after surgery, the patient is asymptomatic. The present case is the first report of this entity with positive immunohistochemical testing for p16, p53, S100, vimentin and absence of MDM2 gene amplification. (AU)

El liposarcoma hepático primario es un tumor maligno extremadamente raro, derivado de adipocitos, y forma parte del grupo de tumores mesenquimales. Presentamos el caso de un paciente masculino de 43 años con diagnóstico de liposarcoma hepático pleomorfo con ausencia de amplificación del gen MDM2. Dos años y 6 meses después de la cirugía el paciente se encuentra asintomático. El presente caso es el primer informe de esta entidad con estudio inmunohistoquímico positivo para p16, p53, S100, vimentina y ausencia de amplificación del gen MDM2. (AU)

Primary hepatic pleomorphic liposarcoma: Case report and literature review.

Primary hepatic liposarcoma is an extremely rare malignant tumour derived from adipocytes and is part of the group of mesenchymal tumours. We present the case of a 43-year-old Hispanic male patient with a pleomorphic hepatic liposarcoma and absence of MDM2 gene amplification. Two years and six months after surgery, the patient is asymptomatic. The present case is the first report of this entity with positive immunohistochemical testing for p16, p53, S100, vimentin and absence of MDM2 gene amplification.

'Chest gossypiboma after spinal surgery, not so easy to forget'.

During any surgical procedure, complications may arise, some of which are fortuitous, whereas others, unfortunately, occur because of errors of the surgical team. Fortunately, most are minor and do not affect the patient's recovery, but others can cause severe morbidity and even mortality. A retained cotton or gauze surgical sponge inadvertently left in the body during an operation is known as a gossypiboma. This dreadful oversight is a marked complication that can cause serious postoperative complications, a severe economic burden on the healthcare system, and many medicolegal implications. We report the case of a 30-year-old male, who suffered a spinal fracture which was repaired through an anterior fixation approach 12 years ago in a local state hospital without complications. Suddenly, he presented with chest pain and cough, and sought medical attention. An 8 × 5 × 8 cm low-density heterogeneous mass was discovered on his chest; after successful surgery, a gossypiboma formed by several gauzes without radiopaque markers was discovered.

Melanocytic nevus of the anal canal and granular cell tumor of the cecum: a case report and literature review of 2 coincidentally co-occurring neurocristopathies.

Granular cell tumors are predominantly benign soft tissue tumors originating from Schwann cells, whereas melanocytic nevi are benign proliferations of melanocytes. We present the case of a patient with the presence of both entities located in the cecum and anal canal, respectively, constituting an extremely rare coincidental finding. A 43-year-old woman was evaluated by colonoscopy for iron-deficiency microcytic anemia that had lasted for 1 year. Colonoscopy demonstrated a macular lesion of 0.3 cm with a melanocytic appearance in the anal canal; at the cecum level, a subepithelial, yellowish, and partially mobile firm nodular lesion measuring 1.3 cm was observed. A histopathological study showed a melanocytic nevus in the anal canal and a granular cell tumor in the cecum. This is the first reported case of a patient with the extremely rare coincidental-incidental finding of these 2 entities at the same time.

Primary splenic histiocytic sarcoma associated with hemophagocytic lymphohistiocytosis: A case report and review of literature of next-generation sequencing involving FLT3, NOTCH2, and KMT2A mutations.

BACKGROUND: Histiocytic sarcoma is a very rare monocyte/macrophage-derived hematopoietic system tumor with a poor prognosis whose diagnosis is pathologically challenging due to its extreme rarity and histological overlap with various mimicking entities in which histiocytes also predominate. CASE: We report the case of a 33-year-old male patient with hemophagocytic lymphohistiocytosis, purpuric syndrome, and significant splenomegaly. The patient underwent splenectomy; subsequent macroscopic examination revealed a spleen weighing 2065 grams with hyperemic red pulp and multiple infarcts at the periphery. The histological and immunohistochemical study established a diagnosis of primary splenic histiocytic sarcoma with frequent hemophagocytosis. Next-generation sequencing demonstrated mutations in FLT3, NOTCH2, and KMT2A, microsatellite stability, and a tumor mutational burden of 2 mut/Mb. The patient's condition deteriorated clinically from the appearance of the first symptoms and he died 6 months later from multi-organ failure. CONCLUSION: Primary splenic histiocytic sarcoma is one of the rarest tumors of the hematopoietic system. We report the first case with mutations in FLT3, NOTCH2, and KMT2A, and associated hemophagocytic lymphohistiocytosis.

Primary cutaneous diffuse large B-Cell lymphoma, leg type mimicking subcutaneous panniculitis-like T-cell lymphoma in a COVID-19 setting: case report and review of literature.

Primary cutaneous diffuse large B-cell lymphoma, leg type is a rare entity accounting for 4% of all primary cutaneous lymphomas whose clinical presentation encompasses a range of possibilities. COVID-19 has caused a delay in diagnosis of malignant neoplasms and consequently, this has resulted in poorer prognoses. A 62-year-old woman presented with two smooth-surfaced, mobile, well-circumscribed, oval, skin-colored nodules approximately one-cm in diameter with nonerythematous borders on the lower third of the left leg. Two months later, eleven nodules measuring between one and 1.5cm with erythematous halo, slight scaling, central erosion, and crusting had appeared. Histological study showed moderate pericapillary lymphocytic infiltration in the papillary and reticular dermis and prominent diffuse proliferation of medium to large cells in the subcutis. These exhibited irregular vesicular nuclei, a conspicuous solitary nucleolus of two to three small nucleoli, and three mitoses per high power field. Adipocytes were consistently encircled by neoplastic lymphocytes. Primary cutaneous diffuse large B-cell lymphoma, leg type is a high-grade lymphoma that can manifest as a diagnostic challenge and requires adequate immunohistochemistry and in situ hybridization studies for proper diagnosis, treatment, and prognosis.

Cutaneous Myoepithelioma: An Unusual Tumor in the Hand.

Cutaneous myoepithelioma (CM) is a rare tumor among the primary skin neoplasms. We present the case of a patient with a diagnosis of CM in the right hypothenar region. Histological study showed a proliferation of myoepithelial cells with a solid, reticular growth pattern in a chondromyxoid stroma. The tumor cells were positive for CK AE, S-100, EMA, and p63.

Mesonephric adenocarcinoma of the cervix: a case report with a three-year follow-up, lung metastases, and next-generation sequencing analysis.

BACKGROUND: Mesonephric adenocarcinoma (MNAC) is a rare tumor of the female genital tract, which originates from mesonephric duct remnants. Its diagnosis is pathologically challenging, because MNAC may exhibit a mixture of morphological patterns that complicates the differential diagnosis. CASE PRESENTATION: The patient in this case was a 48-year-old woman with a polypoid mass protruding into the endocervical canal. The patient underwent a total hysterectomy outside the institution. During biopsy, the mass showed a cerebroid aspect. Histological study revealed a tumor with a predominantly tubular and ductal growth pattern. The immunoprofile showed negative staining for calretinin, carcinoembryonic antigen (CEAm), estrogen receptors (ER), and progesterone receptors (PR), and positive staining for CD10, p16, and PAX2. The Ki-67 score was 46%. Using a next-generation sequencing assay, we documented genomic alterations in KRAS and CTNNB1, low tumor mutation burden (TMB), and an absence of microsatellite instability. In addition, gain of the long arm of chromosome 1 (1q) was also documented using chomogenic in situ hybridization (CISH). Three years later, the patient presented pulmonary nodules in the lingula and left basal lobe that were resected by thoracotomy. The histopathologic study of the pulmonary nodules confirmed the presence of metastases. CONCLUSION: Carcinomas of mesonephric origin are among the rarest subtypes of cervical tumors. We report the first case of mesonephric adenocarcinoma of the cervix with lung metastases showing a CTNNB1 gene mutation.

Secretory Carcinoma of the Parotid: Making the Correct Diagnosis of a Rare Salivary Gland Carcinoma When Molecular Biology Testing Is Not Available.

Secretory carcinoma (SC) is a recently described entity occurring in the salivary glands. Before its description, SC was frequently classified as acinic cell carcinoma (ACC) or adenocarcinoma, not otherwise specified. Its particular histopathological and immunohistochemical characteristics are reminiscent of breast secretory carcinoma. Moreover, it displays a characteristic t(12;15) (p13;q25) translocation that results in the ETV6-NTRK3 gene fusion. This translocation has not been reported in any other salivary gland carcinoma. Identification of the t(12;15) (p13;q25) translocation is the gold standard for diagnosis, although some cases that do not present this specific translocation have already been reported. In such cases, diagnosis is challenging. In addition, some diagnostic pathology laboratories lack the resources to perform the molecular analysis to diagnose SC. In this scenario, morphology and immunohistochemistry are fundamental. Therefore, we report a case emphasizing the typical morphology of SC and its immunochemical profile to establish a final diagnosis without molecular biology tests. This case aims to demonstrate the importance of recognizing the typical presentation of a rare tumor so that clinicians will be informed or reminded of it and consider this entity among the differential diagnoses, when necessary. Moreover, in low-resource settings where molecular analysis is not available, being familiar enough with the histology of this tumor and using the immunoprofile as a key tool for differential diagnosis would be of great importance in establishing the correct diagnosis. The differential diagnosis includes, above all, acinic cell carcinoma and other salivary neoplasms such as intraductal carcinoma, low-grade mucoepidermoid carcinoma, and adenocarcinoma, not otherwise specified, which is actually a rule-out diagnosis.

Vulvar Myxoid Liposarcoma, an Extremely Rare Diagnosis: A Case Report and Review of Literature.

Malignant lipomatous tumors of the vulva are extremely rare. We report the case of a 53-year-old patient with a nodule on her right labium majus whose histological and immunohistochemical profile (S100 and p16) confirmed a diagnosis of vulvar myxoid liposarcoma.

Heterotopic sebaceous glands in the esophagus, a very rare histopathological diagnosis: a case report and review of the literature.

Sebaceous glands are very rarely found in the esophagus. Existing reports do not contain sufficient epidemiological, etiological, clinical, or prognostic data. Its histogenesis suggests heterotopia or metaplasia. Despite its extreme rarity, correct and generally easy identification enables establishing the proper patient monitoring.

Gastritis autoinmunitaria. Abordaje diagnóstico y su relación con los síndromes poliglandulares autoinmunitarios / Autoimmune gastritis. Diagnostic approach and its relationship with autoimmune polyglandular syndromes

La gastritis autoinmunitaria (GAI) es una entidad subdiagnosticada; la mayoría de veces pasa inadvertida con graves consecuencias para la calidad de vida de la persona por sus complicaciones asociadas. Forma, además, parte de un grupo de trastornos autoinmunitarios conocidos como síndromes poliglandulares autoinmunitarios. Hace muchos años la GAI era un trastorno solitario; sin embargo, la reciente asociación con el Helicobacter pylori (HP) ha generado nuevo interés diagnóstico, manejo e incluso prevención de su desarrollo si se sospecha oportunamente. (AU)

Autoimmune gastritis (GAI) is an underdiagnosed entity, most often goes unnoticed with serious consequences on quality of life of the person by their associated complications. It is also part of disorders known as autoimmune polyglandular syndromes. Many years ago the GAI was a lonely disorder, however, the recent association with Helicobacter pylori (HP) has generated new interest in the diagnosis, management and even prevention when clinical suspicion exist. (AU)

Hydroa Vacciniforme-Like EBV-Positive Cutaneous T-Cell Lymphoma, First Report of 2 Cases in Ecuador.

Hydroa vacciniforme-like cutaneous lymphoma is a very rare Epstein-Barr virus positive peripheral T-cell lymphoma affecting Asian and Hispanic children and young adults with a defective cytotoxic immune response to EBV predisposing to the development of the disease. We report on 2 Ecuadorian patients with papulovesicular and ulcerated crusted lesions on the face, upper and lower extremities and abdomen, with aggressive clinical course and, in one case, a fatal outcome. The histological and molecular profiles (immunohistochemistry and in situ hybridization) established a diagnosis of hydroa vacciniforme-like Epstein-Barr virus-encoded small RNAs + cutaneous T-cell lymphoma in both cases.

Secretory Carcinoma in a 79- Year-Old Woman: An Exceptionally Rare Type of Breast Carcinoma.

Secretory breast carcinoma is an exceptionally rare mammary gland neoplasia described mainly in adult females and children of both sexes, and very rarely in the elderly. It has particular histopathological and immunohistochemical features and a favorable prognosis. We report the case of a 79-year-old Hispanic woman with a palpable breast mass. Currently, the patient is disease free after a followup period of 6 years without local recurrence or axillary lymph-nodes nor distant metastases.

Incomplete duplication of a lower extremity (polymelia): a case report.

INTRODUCTION: Polymelia, or congenital duplication of a limb, is an extremely rare entity in humans, with few cases reported in the literature. CASE PRESENTATION: We present the case of a six-month-old Hispanic boy born with a lower limb bud on the left posterior thigh. CONCLUSION: The infant had a favorable outcome and evolution after surgical treatment of his supernumerary limb, with no after-effects or impairment whatsoever.

Unusual histopathological diagnosis of prostatic blue nevus: a case report.

INTRODUCTION: Prostatic blue nevus was first described as a benign lesion of uncertain and controversial histogenesis by Nogogosyan in 1963. Currently, 30 cases have been reported in the world literature. CASE PRESENTATION: A 63-year-old Hispanic man presented with prostatism of several months' evolution. Histopathological examination revealed a blue nevus associated with nodular hyperplasia and acute inflammation. CONCLUSION: Prostatic blue nevus is a rare and unusual, histologically benign prostatic lesion with limited clinical significance and a favorable prognosis.

Traditional serrated adenoma of the sigmoid colon with osseous metaplasia: a case report.

INTRODUCTION: Osseous metaplasia in the gastrointestinal tract is a rare phenomenon. CASE PRESENTATION: We present the case of a 62-year-old Hispanic man with two colonic polypoid lesions, one of which, upon resection and histopathological examination, was found to be a traditional serrated adenoma with a focus of stromal osseous metaplasia. CONCLUSIONS: Our patient's case is the third report of stromal osseous metaplasia in a traditional serrated adenoma of the sigmoid colon.