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Amyloidosis is a group of rare deposition diseases marked by the accumulation of abnormal fibrillar proteins in the extracellular space of various tissues. In both AL and AA amyloidosis, the most common variants, isolated involvement to any one organ is uncommon and involvement to the colon alone is especially rare. We present the case of a patient who was initially found to have AL amyloidosis on prior screening colonoscopy that was reconfirmed several years with repeat evaluation for chronic constipation. This disease process is often insidious and can be overlooked by providers given the lack of overwhelming symptoms.
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Background: Intra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare entity (0.2-0.74 cases per million people per year), which predominantly occurs in young men. It may present as an abdominal mass with pain, distention, and constipation. IDSRCT has a very poor prognosis, with 5-year overall survival estimated at 15%-30%. Diagnosis is made with tissue biopsy. Case description: We present a case of a 28-year-old man with a history of schizophrenia and depression who presented to an emergency room (ER) in November 2022 with constipation and pelvic pain. The patient was sent home with a bowel regimen after radiography showed no obstruction. He re-presented for evaluation due to persistent pain. A computerized tomography scan of the abdomen and pelvis (CT A/P) revealed numerous pelvic masses with severe colitis, bilateral moderate hydronephrosis, and metastatic disease in the liver. A colonoscopy showed a mass extending 3 cm from the anus to 10 cm causing a partial obstruction. Biopsy was read as squamous cell carcinoma (SCC). The patient was subsequently admitted to our institution with pelvic pain, nausea, and vomiting. Colorectal surgery performed a colectomy with end-ileostomy due to colonic obstruction. He was evaluated by a medical oncologist, with previous slides requested for review. Initial review was concerning metastatic basaloid SCC with neuroendocrine features and a Ki67 of 70%. Given his recent abdominal surgeries, chemotherapy was delayed until February 2023 when he was started on reduced dose carboplatin and paclitaxel. Tumor specimen was sent for next generation sequencing (NGS) and programmed death-1 ligand 1 (PD-L1) testing. NGS results returned after the first dose of chemotherapy was given and showed a t(11;22) EWSR-WT1 translocation characteristic of desmoplastic small round cell tumor. The patient was supported in the hospital and discharged with oncology follow-up. Discussion: As seen in this case, pathology review is essential to ensuring correct diagnosis and appropriate treatment plan. This is especially true when the clinical scenario does not match the listed pathology. Additional diagnostics such as NGS are invaluable in establishing correct diagnosis.
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Neonatal HNT in the pharynx is a rare cause of respiratory distress and poor feeding in the newborn, but must be differentiated from teratoma, encephalocele, and nasal glioma. While surgical resection is the preferred treatment modality, we posit there is a role for sclerosis of the glial heterotopic cyst if complete surgical excision is not possible or carries risk of high morbidity. Here, we present a case of a 7-day-old neonate presenting with acute respiratory distress found to have a nasopharyngeal/oropharyngeal mass ultimately treated with sclerotherapy at 9 months of age.
Subject(s)
Pharyngeal Diseases , Respiratory Distress Syndrome , Teratoma , Infant, Newborn , Humans , Nasopharynx/pathology , Encephalocele , Teratoma/pathologyABSTRACT
Background: Alpelisib is a recently approved treatment for hormone receptor-positive, HER2-negative, PIK3CA-mutated advanced breast cancer. It has been associated with alopecia and rash, but there are no documented cases of Stevens-Johnson Syndrome (SJS) associated with this drug. Here, we detail the first case of SJS associated with alpelisib. Case description: Our patient is a 60-year-old woman with a past medical history of metastatic hormone receptor-positive (ER+ 80% and PR+ 1%), HER2-negative metastatic breast cancer who presented with acute odynophagia, fevers, and diffuse body rash after receiving her first doses of alpelisib and fulvestrant in the preceding days. She presented to the emergency department after developing a whole-body rash and severe ulceration of her buccal mucosa. She was started on methylprednisolone with remarkable improvement in symptoms. Conclusion: This case report details the only report of SJS following alpelisib treatment. Immediate cessation of drugs and initiation of steroids are the cornerstone of treatment. Patients who experience such side effects will have to be monitored closely for long-term sequelae associated with SJS, including cutaneous, ocular, and oral sequelae, all of which can profoundly affect the quality of life for cancer patients.
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Background: Transbronchial forceps biopsy is the widely accepted modality for obtaining tissue specimens for the evaluation of unexplained lung parenchymal abnormalities. However, cryoprobe biopsy provides large specimen sizes and higher yield performance. Utilization of cryoprobe biopsy remains limited by its need to be performed under rigid bronchoscopy and subsequent required operator expertise. We evaluated whether a larger, 2.8 mm forceps could be utilized for parenchymal biopsies. A larger size would surrogate the cryoprobe's large sample size and forceps mechanism to obviate the need for rigid bronchoscopy and its requirement for removing the sample en bloc. Methods: This prospective, randomized controlled, single-blinded porcine study compared a 1.9 mm cryoprobe, a 2.4 mm cryoprobe, and a 2.8 mm forceps. Assessment of histopathologic quality, sample quality and surface area, attempts to retrieve specimen samples, fluoroscopy activation time, overall procedural time, and complications were compared. Results: Although cryoprobe yielded larger specimens, there was no statistical difference amongst all tools with respect to alveolar tissue surface area. There was bleeding on all cryoprobe biopsies. No bleeding was observed with forceps. Out of 32 potential combinations of interventions for bleeding control, 18 (56.3%) were made. There was no significant difference in sample quality between all three modalities. There was one pneumothorax in the forceps arm. Conclusions: Large forceps (LF) biopsy is a feasible technique while providing high diagnostic yield without the need for advanced therapeutic tools. Human studies are needed to further corroborate this technique.
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The prevalence of ectopic thyroid tissue, based on autopsy studies, is between 7% and 10%, but there are rare cases reported in the thoracic region. Here, we encountered a case of thoracic ectopic thyroid tissue presenting as a presumed enlarged mediastinal lymph node. A 50-year-old female with a history of lung adenocarcinoma, status post resection, presented with complaints of headache, dizziness, and nausea. Magnetic resonance imaging found two brain lesions consistent with metastasis. Computed tomography scan showed enlarged mediastinal lymph nodes and thyroid nodules. Fine-needle aspiration (FNA) of one thyroid nodule was positive for papillary thyroid carcinoma. FNA of the mediastinal lymph nodes were negative for metastatic carcinoma but revealed thyroid tissue in the 2.9 × 1.6 cm presumed 2 L lymph node. The morphological features and immunohistochemical stains confirmed thyroid tissue, and there were no cytological features of thyroid carcinoma. In patients with a history of a pulmonary tumor (such as adenocarcinoma, low-grade neuroendocrine tumor), ectopic thyroid tissue, although a rare event, could represent a pitfall in the cytologic evaluation of mediastinal lymph nodes aspirates obtained from staging procedures. Careful morphologic examination with a panel of immunohistochemical studies are useful in making the correct diagnosis, leading to appropriate patient management.
Subject(s)
Choristoma/pathology , Lung Neoplasms/secondary , Lymph Nodes/pathology , Mediastinum/pathology , Thyroid Gland/pathology , Adenocarcinoma/diagnostic imaging , Adenocarcinoma/pathology , Choristoma/diagnostic imaging , Female , Humans , Lung Neoplasms/diagnostic imaging , Lymph Nodes/diagnostic imaging , Mediastinum/diagnostic imaging , Middle Aged , Positron-Emission Tomography , Thyroid Gland/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Transbronchial lung biopsy (TBLB) using forceps is one of the most common procedures used to obtain lung tissue. The procedure's usefulness remains limited when diagnosing interstitial lung diseases. This retrospective descriptive study analyzed the feasibility and safety of using large forceps for TBLB in all patients who underwent TBLB from 2014 to 2018 for diffuse lung disease where the diagnosis could not be made by high-resolution chest computed tomography. We excluded patients with radiographic features of usual interstitial pneumonia. Among the 35 study patients, 7 were men and 28 were women. Diagnoses included respiratory associated bronchiolitis (7), diffuse alveolar damage (4), organizing pneumonia (4), nonspecific interstitial pneumonitis (3), acute fibrinous organizing pneumonia (3), sarcoidosis (2), hypersensitivity pneumonitis (2), IgG4 interstitial lung disease (1), eosinophilic pneumonia (1), pulmonary alveolar proteinosis (1), pulmonary fibrosis (1), pneumocystis (1), plasma-rich bronchiolitis (1), and diffuse alveolar hemorrhage (1). In three cases, the biopsies were nondiagnostic. Two patients developed a pneumothorax, and one required chest tube placement. There was one episode of minor bleeding. No escalation of care or hospitalization was required. Large-forceps TBLB is a feasible and safe method for obtaining parenchymal lung biopsies.
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A 71-year-old woman with metastatic squamous cell carcinoma of the lung and insulin-dependent type 2 diabetes mellitus presented with a necrotic lesion on her lower abdomen. Further history revealed that this was the site of repeat insulin injections with reuse of the same needles. On investigation, biopsy of the site was positive for broad, aseptate, right-angle branching fungal hyphae consistent with mucormycosis. Studies have shown that insulin needle reuse is a common practice among diabetics for several reasons, including cost and convenience. While the current American Diabetes Association guidelines suggest that this is an acceptable practice among the general population of diabetics, they advise against it in patients who are actively ill or immunocompromised. Discussion about insulin needle reuse should be of utmost importance among providers and their diabetic patients, especially for patients who are immunocompromised.
Subject(s)
Abdomen/pathology , Dermatomycoses/therapy , Injection Site Reaction/microbiology , Injections, Subcutaneous/adverse effects , Mucormycosis/etiology , Mucormycosis/therapy , Aged , Anti-Bacterial Agents/therapeutic use , Antifungal Agents/therapeutic use , Dermatomycoses/microbiology , Diabetes Mellitus, Type 2/drug therapy , Female , Humans , Immunocompromised Host , Insulin/adverse effects , Lung Neoplasms/complications , Necrosis , Nitriles/therapeutic use , Pyridines/therapeutic use , Triazoles/therapeutic use , Vancomycin/therapeutic useABSTRACT
Warthin tumor is the second most common benign salivary gland tumor that classically arises in the parotid gland. It can be synchronous, metachronous, multifocal, bilateral, or unilateral, which complicates diagnosis and management. Rare cases of Warthin tumor of the minor salivary gland are described, but no cases of unilateral, synchronous Warthin tumor involving the parotid and minor salivary gland have been reported. We present a case of Warthin tumor arising from a minor salivary gland in the left oropharynx of a 71-year-old male with a previous history of left parotid Warthin tumor, later determined to be synchronous.
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Ewing sarcoma of bone is classically a permeative lesion in the diaphysis of long bones in children. While they occur primarily in children and adolescents, they can be seen in young adults in their 20s, but these are typically seen in flat bones. The permeative nature of the lesion can elicit new bone formation creating a partially sclerotic appearance, cortical expansion presenting as a "Codman triangle," or have an "onion-skin" type of aggressive periosteal reaction/periostitis. Ewing sarcoma is rarely seen without an associated soft-tissue mass and is even rarer to just have benign-appearing periostitis (e.g., thick, uniform, or wavy cortex). We present such a case of Ewing sarcoma in a young adult confined to just the medullary metadiaphysis without cortical erosion or soft-tissue mass. To the best of our knowledge, this is the first case to be reported in the radiology literature.
Subject(s)
Breast Neoplasms/pathology , Carcinoma, Intraductal, Noninfiltrating/pathology , Fibroadenoma/pathology , Adolescent , Breast Neoplasms/diagnosis , Breast Neoplasms/surgery , Carcinoma, Intraductal, Noninfiltrating/diagnosis , Carcinoma, Intraductal, Noninfiltrating/surgery , Disease Management , Female , Fibroadenoma/diagnosis , Fibroadenoma/surgery , Humans , Risk AssessmentABSTRACT
A 78-year-old man was diagnosed with bladder carcinoma in situ and was successfully treated with intravesical bacillus Calmette-Guérin (BCG) instillations. At 6 months after the last dose, he developed fever, weight loss and malaise. He had an extensive negative workup at an outside hospital and was treated empirically with ciprofloxacin for 2 weeks. The fever resolved but returned months later and he was readmitted with pancytopenia, elevated alkaline phosphatase and ground glass opacities on the chest CT. Bone marrow and liver biopsies showed non-caseating granulomas and were negative for acid-fast bacillus (AFB) and fungal stains. Mycobacterium tuberculosis complex PCR of the bone marrow was negative. Owing to the high clinical suspicion of disseminated BCG infection, the patient was treated empirically. After 9 weeks of incubation, the bone marrow AFB culture grew Mycobacterium bovis. Within 2 months of treatment his symptoms resolved and his laboratory results normalised.
Subject(s)
BCG Vaccine/adverse effects , Fever of Unknown Origin/etiology , Mycobacterium bovis/isolation & purification , Pancytopenia/etiology , Tuberculosis/chemically induced , Administration, Intravesical , Aged , Antitubercular Agents/therapeutic use , BCG Vaccine/administration & dosage , Bone Marrow/microbiology , Diagnosis, Differential , Humans , Male , Polymerase Chain Reaction , Tomography, X-Ray Computed , Tuberculosis/drug therapy , Urinary Bladder Neoplasms/drug therapyABSTRACT
Common variable immunodeficiency (CVID) is the most common of the primary immunodeficiency disorders. Pulmonary manifestations are characterised by recurrent rhinosinusitis, respiratory tract infections and bronchiectasis. Less commonly the lung may be affected by lymphoid disorders and sarcoid-like granulomas. Organising pneumonia (OP) is a rare pulmonary manifestation. We report the case of a 32-year-old woman with CVID who presented with fever, dyspnoea and persistent lung infiltrates despite antibiotic therapy. CT of the chest showed bilateral patchy alveolar infiltrates. Pulmonary function tests revealed moderate restriction and reduction in diffusion capacity. Initial bronchoscopy with transbronchial biopsies did not yield a diagnosis but surgical lung biopsies identified OP. Significant clinical, radiographic and physiological improvement was achieved after institution of corticosteroid therapy.
Subject(s)
Common Variable Immunodeficiency/complications , Pneumonia/diagnosis , Adult , Female , Humans , Pneumonia/diagnostic imaging , Pneumonia/etiology , Tomography, X-Ray ComputedABSTRACT
Enabling collection of clinical data directly from patients has the potential to increase data accuracy and augment patient engagement in the care process. Most patient data entry systems have been created independent of electronic health records, and few studies have explored how patient entered data can be integrated in the documentation of a clinical encounter. In this paper we describe a formative evaluation study using three different methodologies through which we identified requirements for direct data entry by patients and the subsequent incorporation of these data into the documentation process. The greatest challenges included ensuring confidentiality of records between patients, capturing medication histories from patients, displaying and distinguishing new and previously entered data for provider review, and supporting patient educational needs. The resulting computer tablet-based data collection tool has been deployed to 30 primary care optometry practices where it is successfully used to document care for patients with glaucoma.