Pediatric patients with lysosomal acid lipase deficiency.

Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly, dyslipidemia, and abnormal liver function. Percutaneous liver biopsy revealed portal inflammation, hypertrophic Kupffer cells with a foamy appearance and microvesicular steatosis with fibrosis. Immunostaining for lysosomal markers, cathepsin D and LAMP1 reflected the lysosomal nature of the lipid vacuoles. After enzymatic confirmation, enzyme replacement therapy was initiated for both siblings. Follow-up transaminase levels and lipid profiles showed a notable decrease in AST and ALT and a slight increase in HDL cholesterol. It is crucial to increase awareness of this rare condition among clinicians and pathologists. The expression of lysosomal markers around the lipid vacuoles might help diagnose LAL deficiency in pediatric patients.

Prevalence of SARS-CoV-2 infection and SARS-CoV-2-specific antibody detection among healthcare workers and hospital staff of a university hospital in Colombia.

Objective: The aim of this study was to determine current and previous SARS-COV-2 infection, and describe risk factors associated with seropositivity, among HCWs and hospital staff between June and October of 2020. Methodology: Data from the day of enrollment for a prospective cohort study were analyzed to determine point prevalence and seroprevalence of SARS-CoV-2 infection in HCWs and hospital staff of a university hospital in Colombia. Respiratory samples were collected to perform RT-PCR tests, along with blood samples to measure SARS-CoV-2 IgM and IgG antibodies. Data on nosocomial and community risk factors for infection were also collected and analyzed. Findings: 420 HCWs and hospital staff members were included. The seroprevalence at baseline was 23.2%, of which 10.7% had only IgM antibodies, 0.7% had IgG, and 11.7% had IgM and IgG. The prevalence of acute SARS-CoV-2 infection was 1.9%. Being a nurse assistant was significantly associated with seropositivity when compared with all other job duties (PR 2.39, 95% CI 1.27-3.65, p = 0.01). Conclusions: Overall SARS-CoV-2 prevalence was 1.9% and seroprevalence was 23.15%. Nurse assistants, medical doctors or students, and laboratory workers had a higher possibility of being SARS-CoV-2 seropositive.

Carcinoma of the rete testis: A rare testicular tumor.

Carcinoma of the rete testis is a rare malignant tumor which frequently occurs in middle-aged to older patients and has an aggressive biological behavior. We present the case of a 57-year-old man who presented with an ill-defined mass in the right testicle. The patient underwent a radical orchidectomy. Microscopic evaluation showed a neoplasm displaying a complex papillary-cystic architecture, infiltrating the testicular parenchyma. An in situ proliferation of neoplastic cells, with nuclear stratification and scanty cytoplasm was seen at the periphery, within the channels of the rete testis. The tumor infiltrated the tunica albuginea focally without disrupting it completely. Immunohistochemistry was positive for AE1/AE3, CK7, CK34ßE12, D2-40, and PAX8. Imaging studies presented no evidence of metastatic disease. These findings are those of a primary rete testis carcinoma. The transition between benign and neoplastic rete testis epithelium served as a helpful diagnostic clue. Metastatic carcinomas from other sites were considered in the differential diagnosis.

Colitis actínica de localización cecal. Serie de casos / Actinic colitis of cecal location. Number of cases

Resumen Por definición, la colitis actínica incluye cambios inflamatorios de la mucosa colorrectal secundarios a radioterapia en cercanía a la región tratada. La localización más frecuente es el recto y la indicación más común de radioterapia corresponde a neoplasias de la región pélvica incluidos el recto, la próstata y el cérvix. Se estima que hasta la mitad de los pacientes que reciben radiación pélvica llega a desarrollar síntomas gastrointestinales asociados. Se presentan dos pacientes con metástasis óseas sacroilíacas y pélvicas secundarias a adenocarcinoma de próstata que recibieron radiación en la región lumbosacra y pélvica, ambos pacientes presentaron episodios de deposiciones con sangre que iniciaron tempranamente posterior a la radioterapia. La colonoscopia mostró eritema y ulceración. En el estudio histopatológico se observó un patrón de colitis isquémica, con núcleo y citomegalia, estroma fibroso con cambios reactivos y abundante infiltrado inflamatorio neutrofílico. Estos hallazgos son característicos de la colitis actínica aguda; sin embargo, la localización cecal no ha sido frecuentemente reportada. Aunque al ser el ciego y el íleon terminal móviles de localización pélvica, se convierten en un factor de riesgo para que estos segmentos anatómicos sean susceptibles al impacto directo de la radioterapia. Esta condición, en la fase aguda, es autolimitada y se suele resolver con medidas de soporte. Es indispensable que el personal involucrado en el manejo de estos pacientes conozca esta entidad y los posibles diagnósticos diferenciales.

Abstract By definition, actinic colitis includes inflammatory changes of the colorectal mucosa secondary to radiation therapy of nearby tissue. The most frequent location is the rectum, and the most common indication for radiation therapy is a pelvic region neoplasm in the rectum, prostate or cervix. It is estimated that up to half of patients receiving pelvic radiation go on to develop associated gastrointestinal symptoms. We present two patients with sacroiliac and pelvic bone metastases secondary to prostate adenocarcinoma who received radiation in the lumbosacral and pelvic region. Both patients developed bloody stools soon after radiation therapy. Colonoscopy showed erythema and ulceration, and histopathology found a pattern of ischemic colitis with nucleus and cytomegalovirus infection, fibrous stroma with reactive changes and abundant inflammatory infiltration of neutrophils. These findings are characteristic of acute actinic colitis, but the cecal location has not been reported frequently. Nevertheless, the pelvic location of the cecum and the terminal ileum puts these anatomical segments at risk from the direct impact of radiation therapy. In the acute phase, this condition, is self-limiting and usually resolves with support measures. It is essential that the personnel involved in the management of these patients be aware of this entity and its possible differential diagnoses.

Merkel Cell Carcinoma and Diagnostic Experience in a Reference Hospital: A Case Series.

Merkel cell carcinoma (MCC) is a rare poorly differentiated neuroendocrine tumor, usually located in sun-exposed skin, with aggressive behavior and with high recurrence risk and metastatic disease. In Latin America, case series have been published, and it does not exceed 32 patients in 10 years, and in Colombia, there are case reports. We present a descriptive retrospective cross-sectional study in patients diagnosed with MCC in the Department of Pathology and Laboratories at the University Hospital Fundación Santa Fe de Bogotá(FSFB) between January 2003 and December 2018. We present the demographic, clinical, and pathological variables of these patients, as well as a literature review.

Epithelioid hemangioendothelioma of the parotid gland: A case report in an unusual location with a review of the literature.

Epithelioid hemangioendothelioma (EHE) is a malignant vascular tumor that usually affects the liver, lung, bone and deep soft tissues of the extremities or trunk. To our knowledge, only 3 cases in the parotid gland have been reported to date. We report a case of a 62-year-old woman who presented with a 1-year history of a slow-growing, painless mass over the left mandibular angle. Imaging studies showed a 2cm mass over the left parotid gland with peripheral calcifications. The patient underwent a superficial parotidectomy. Sections displayed neoplastic epithelioid cells with cytoplasmic vacuoles containing erythrocytes, surrounded by a myxohyaline stroma. Immunohistochemistry was positive for CD31, CD34, ERG, and factor VIII, but negative for cytokeratin AE1/AE3, CK7, EMA, SMA, and S100. The findings were those of an EHE involving the parotid gland. This case demonstrates an EHE in a rare location and emphasizes the need to consider this tumor when diagnosing uncommon soft tissue tumors of salivary glands.

Esophageal tuberculosis in an HIV-positive patient mimicking a spindle cell tumor.

Tuberculosis (TB) of the esophagus is an extremely rare condition, even in immunocompromised patients. We report the case of a 24-year-old man with a past history of HIV and pulmonary tuberculosis who presented with dysphagia and a 2cm submucosal mass in the proximal esophagus. The biopsy was diagnosed as a spindle cell neoplasm in another center. Sections displayed a submucosal lesion formed by spindle and epithelioid cells, surrounded by chronic inflammation. The spindle cells were positive for S100 and CD68, but negative for cytokeratin, desmin, smooth muscle actin, ALK, CD34 and CD117. Ziehl-Neelsen stain was performed and showed many intracellular acid-fast bacilli, confirming the diagnosis of esophageal TB. This case is a reminder that esophageal TB may become manifest as a submucosal lesion and the histiocytic-granulomatous reaction may mimic a spindle cell tumor.

Malignant Solitary Fibrous Tumor of the Humerus: A Case Report of an Extremely Rare Primary Bone Tumor.

Solitary fibrous tumor (SFT) is a spindle-shaped cell neoplasm originally described in the pleura, but subsequently found in many anatomic sites. Only few cases of primary SFTs in the bone have been previously described in the literature. We present the case of an 86-year-old man with a 1-week history of pain in his left arm. Imaging studies demonstrated a well-defined osteolytic lesion in the proximal humerus measuring 6.1 cm in diameter. Sections showed a round to spindle-shaped cell neoplasm with prominent mitotic activity (28 mitoses per 10 high-power fields) and areas of necrosis, focally surrounding staghorn-shaped vessels. The tumor cells were positive for CD34, CD99, Bcl-2, and STAT6 and negative for smooth muscle actin, epithelial membrane antigen, and cytokeratin AE1/AE3. These findings were consistent with a malignant SFT involving the left humerus. Although extremely rare, SFT should be considered in the differential diagnosis of primary bone tumors. This is the first case report of a primary SFT in a long bone with malignant histological features.

Esophageal Pyogenic Granuloma: A Case Report and Review of the Literature.

Pyogenic granuloma (PG) is a capillary hemangioma mainly found in the skin and oral mucosa, but rarely described in the esophagus. We report the case of a 66-year-old man who consulted for retrosternal pain. Endoscopic studies showed a 28-mm polypoid mass located at the distal esophageal mucosa. The patient underwent endoscopic resection, and the histopathological examination showed a neoplastic proliferation of small blood vessels growing in a lobular architecture, with edematous stroma and prominent inflammatory infiltrate. Special stains for fungus showed pseudohyphae compatible with Candida spp. Findings were consistent with those of an esophageal PG associated with Candida infection. This case is a reminder that PG can be found in the esophagus, can be associated with other entities such as Candida infection, and is one of the differential diagnoses of neoplastic vascular proliferations that may mimic malignancy. In addition, we reviewed previously reported cases of esophageal PG.

Accuracy and interobserver agreement of retroareolar frozen sections in nipple-sparing mastectomies.

In the last decades, surgical treatment of breast cancer has enormously changed. As a result, nipple-sparing mastectomy (NSM) has evolved as an oncologically safe and cosmetic approach. NSM includes a subareolar frozen section to evaluate malignancy. We determined the accuracy of subareolar frozen section diagnosis, analyzed the discrepancy factor, and estimated the interobserver agreement of frozen section in NSM. A retrospective review of all NSMs at our institution from 2009 to 2015 was performed. Frozen sections were compared to the final diagnoses to analyze the accuracy of subareolar frozen sections. Discordant results were rigorously evaluated to identify discrepancy factors. Some cases were randomly chosen to assess the interobserver agreement (kappa) among pathologists. The agreement results were evaluated with and without knowledge of the tumor morphology. Among 34 NSMs, the frozen section false-negative and false-positive rate was 5.9% and 8.8%, respectively. The sensitivity and specificity was 77.8% and 88.0%, respectively. Sampling errors and diathermy artifacts explained our false-negative diagnoses. Freezing artifacts and an intraductal papilloma explained our false-positive diagnoses. The interobserver agreement between breast and general pathologists was 0.87 (p<0.0001) and 0.31 (p=0.0001), respectively. The interobserver agreement increased to 0.35 (p<0.0001) in general pathologists with knowledge of the tumor morphology. Subareolar frozen section showed to be a specific test with moderate sensitivity. Papillary lesions can mimic atypical cells and influence the frozen section interpretation. Frozen section in NSM had a better performance in breast pathologists (almost perfect) versus general pathologists (fair). Interobserver agreement may improve with knowledge of tumor morphology.

Endometriosis mimicking glandular atypia in a cervical cytology.

Endometriosis involving the uterine cervix is a rare condition that can lead to diagnostic errors in the interpretation of Pap smear. We report the case of a 41-year-old patient in whom the initial Pap smear revealed three-dimensional clusters of glandular cells with elongated nuclei, occasional mitosis, and atypia, which was interpreted as atypical glandular cells, not otherwise specified (NOS). The patient was taken to colposcopy and endocervical biopsy. Colposcopy was normal and the biopsy presented glands with elongated nuclei and surrounded by endometrial stroma admixed with normal endocervical glands. Immunohistochemical studies were reactive for CD10 in the stromal cells and vimentin in endometrioid glands. The findings were consistent with cervical endometriosis. Endometriosis in the cervix is an uncommon pathology that mimics malignancy and may be interpreted as atypical or glandular neoplasia in the cytology.

Intraperitoneal Granulomas Unexpectedly Found during a Cesarean Delivery: A Late Complication of Dropped Gallstones.

Laparoscopic cholecystectomy is the treatment of choice for patients with symptomatic cholelithiasis. Spillage of gallstones into the abdominal cavity during laparoscopic cholecystectomy occurs in approximately one-third of cases. Although retained gallstones remain asymptomatic, few cases may develop complications. We report the case of a 29-year-old nulliparous woman presenting with several hard nodules in the omentum, raising the possibility of a metastatic disease. Histological examination demonstrated a bile-stained material and a foreign body-type granulomatous response without neoplastic tissue. Our case demonstrates an example of a complication resulting two years after a laparoscopic cholecystectomy that was unexpectedly found during a cesarean delivery. Pathologists should be aware of this entity to avoid interpretation errors.