Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 36
Filter
1.
J Comput Assist Tomogr ; 48(4): 563-576, 2024.
Article in English | MEDLINE | ID: mdl-38110305

ABSTRACT

ABSTRACT: Neuroendocrine neoplasms (NENs) are rapidly evolving small bowel tumors, and the patients are asymptomatic at the initial stages. Metastases are commonly observed at the time of presentation and diagnosis. This review addresses the small bowel NEN (SB-NEN) and its molecular, histological, and imaging features, which aid diagnosis and therapy guidance. Somatic cell number alterations and epigenetic mutations are studied to be responsible for sporadic and familial SB-NEN. The review also describes the grading of SB-NEN in addition to rare histological findings such as mixed neuroendocrine-non-NENs. Anatomic and nuclear imaging with conventional computed tomography, magnetic resonance imaging, computed tomographic enterography, and positron emission tomography are adopted in clinical practice for diagnosing, staging, and follow-up of NEN. Along with the characteristic imaging features of SB-NEN, the therapeutic aspects of imaging, such as peptide receptor radionuclide therapy, are discussed in this review.


Subject(s)
Intestinal Neoplasms , Intestine, Small , Neuroendocrine Tumors , Humans , Neuroendocrine Tumors/diagnostic imaging , Neuroendocrine Tumors/therapy , Intestinal Neoplasms/diagnostic imaging , Intestinal Neoplasms/therapy , Intestine, Small/diagnostic imaging , Intestine, Small/pathology , Tomography, X-Ray Computed/methods
2.
Radiographics ; 43(12): e230071, 2023 12.
Article in English | MEDLINE | ID: mdl-37971934

ABSTRACT

A diverse spectrum of pathologically distinct, nonneoplastic, proliferative conditions of the kidneys and urinary tract demonstrate a expansile growth pattern similar to that of neoplasms. The renal pseudotumors include myriad causes of infections as well as rare noninfectious causes such as sarcoidosis, amyloidosis, and immunoglobulin G4-related disease (IgG4-RD). Rare entities such as cystitis cystica, endometriosis, nephrogenic adenoma, and pseudosarcomatous myofibroblastic proliferation and distinct types of prostatitis comprise tumefactive nontumorous disorders that affect specific segments of the urinary tract. The pseudotumors of the kidneys and urinary tract demonstrate characteristic histopathologic and epidemiologic features, as well as protean clinical manifestations, natural history, and imaging findings. Many patients present with genitourinary tract-specific symptoms or systemic disease. Some cases may be incidentally discovered at imaging. Some entities such as perinephric myxoid pseudotumors, IgG4-RD, fibroepithelial polyp, and nephrogenic adenoma display specific anatomic localization and disease distribution. Imaging features of multisystem disorders such as tuberculosis, sarcoidosis, and IgG4-RD provide supportive evidence that may allow precise diagnosis. Fungal pyelonephritis, xanthogranulomatous pyelonephritis, IgG4-RD, actinomycosis, and endometriosis show markedly low signal intensity on T2-weighted MR images. Although some pseudotumors exhibit characteristic imaging findings that permit correct diagnosis, laboratory correlation and histopathologic confirmation are required for definitive characterization in most cases. A high index of suspicion is a prerequisite for diagnosis. Accurate diagnosis is critical for instituting optimal management while preventing use of inappropriate therapies or interventions. Surveillance CT and MRI are frequently used for monitoring the response of pseudotumors to therapy. ©RSNA, 2023 Quiz questions for this article are available in the supplemental material.


Subject(s)
Adenoma , Endometriosis , Immunoglobulin G4-Related Disease , Sarcoidosis , Male , Female , Humans , Kidney/diagnostic imaging , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed
3.
Radiographics ; 43(3): e220128, 2023 03.
Article in English | MEDLINE | ID: mdl-36757881

ABSTRACT

A diverse spectrum of benign entities and malignant neoplasms originate from the monotonous mesothelium that lines the serosal membranes of the pleural, pericardial, and peritoneal cavities. The mesothelium of myriad sites shows a common origin from the lateral plate mesoderm; primary mesothelial tumors thus demonstrate similar pathogenesis, imaging findings, and treatment options. Significant changes have been made in the 2021 World Health Organization (WHO) classification schemata of the pleural and pericardial tumors on the basis of recent advances in pathology and genetics. While malignant mesotheliomas are biologically aggressive malignancies that occur primarily in patients exposed to asbestos with attendant poor survival rates, well-differentiated papillary mesothelial tumors and adenomatoid tumors charter a benign clinical course with an excellent prognosis. Mesothelioma in situ is a newly characterized entity represented by recurrent unexplained pleural effusions without any identifiable mass at imaging or thoracoscopy. Immunohistochemical markers based on BAP1, MTAP, CDKN2A, and TRAF7 gene mutations help differentiate diffuse mesotheliomas from benign mesothelial proliferations and localized mesotheliomas. Cross-sectional imaging modalities, including US, CT, MRI, and fluorine 18-fluorodeoxyglucose (FDG) PET/CT, permit diagnosis and play a major role in staging and assessing surgical resectability. Imaging studies are invaluable in providing noninvasive and quantitative assessment of tumor response in patients with unresectable disease. Owing to significant overlap in patient characteristics and pathomorphology, accurate diagnosis based on advanced histopathology techniques and genetic abnormalities is imperative for optimal management and prognostication. While patients with nonepithelioid pleural mesotheliomas benefit from immunotherapy, novel targeted therapies for CDKN2A-, NF2-, and BAP1-altered mesotheliomas are under consideration. © RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.


Subject(s)
Adenomatoid Tumor , Mesothelioma, Malignant , Mesothelioma , Neoplasms, Mesothelial , Pleural Neoplasms , Humans , Positron Emission Tomography Computed Tomography , Mesothelioma/diagnostic imaging , Mesothelioma/therapy , Pleural Neoplasms/pathology , Biomarkers, Tumor
4.
Am J Dermatopathol ; 45(2): 123-126, 2023 Feb 01.
Article in English | MEDLINE | ID: mdl-36669077

ABSTRACT

ABSTRACT: Primary cutaneous mucinous carcinoma is a rare, indolent malignancy with a debated history regarding cell of origin. Recurrence is rare but has been documented in up to a third of cases. Recent literature reviews have recognized 2 possible subtypes-neuroendocrine and nonneuroendocrine- with different possible prognostic implications for patients. We describe a case of recurrent primary cutaneous mucinous carcinoma in a 50-year-old man with subtle neuroendocrine features not initially recognized on routine H&E staining but highlighted by immunohistochemical studies. We underscore the importance of immunohistochemical use in these rare cases and emphasize that awareness of these neuroendocrine and nonneuroendocrine subtypes is essential for a complete diagnosis.


Subject(s)
Adenocarcinoma, Mucinous , Carcinoma, Neuroendocrine , Skin Neoplasms , Male , Humans , Middle Aged , Scalp/surgery , Scalp/pathology , Adenocarcinoma, Mucinous/surgery , Adenocarcinoma, Mucinous/pathology , Skin Neoplasms/surgery , Skin Neoplasms/pathology , Carcinoma, Neuroendocrine/pathology
5.
Radiographics ; 42(2): 417-432, 2022.
Article in English | MEDLINE | ID: mdl-35030067

ABSTRACT

There is a wide spectrum of benign and malignant mesenchymal neoplasms of the prostate, which account for less than 1% of all prostatic tumors. These include distinctive tumors that arise from the specialized prostatic stroma and site-agnostic neoplasms such as smooth muscle tumors, fibrous or myofibroblastic neoplasms, neurogenic tumors, vascular tumors, and a plethora of sarcomas. Select tumors show classic sites of origin within the prostate. While stromal tumors of uncertain malignant potential (STUMPs) commonly involve the peripheral zone at the prostate base, leiomyomas typically originate from the central prostate toward the apex. Some "prostatic" neoplasms such as gastrointestinal stromal tumors, solitary fibrous tumor (SFT), paragangliomas, and neurogenic tumors arise primarily from periprostatic soft tissues. Most mesenchymal tumors of the prostate and seminal vesicles manifest as large tumors that cause nonspecific symptoms; prostate-specific antigen level is not typically elevated. Diverse mesenchymal neoplasms demonstrate characteristic histopathologic and immunocytochemical features and variable cross-sectional imaging findings. While leiomyoma and SFT typically display low signal intensity on T2-weighted images, synovial sarcomas commonly show hemorrhage. Diagnosis is difficult because of the rarity and lack of awareness of the tumors and the significant overlap in histopathologic features. Select tumors show characteristic genetic abnormalities that allow the diagnosis to be established. For example, more than 90% of SFTs are characterized by a unique NAB2-STAT6 gene fusion, and more than 95% of synovial sarcomas are associated with a distinctive SYT-SSX chimeric transcript. Accurate diagnosis is imperative for optimal management owing to markedly different tumor biology as well as attendant therapeutic and prognostic implications. While STUMPs commonly recur, sarcomas typically charter an aggressive course with poor prognosis. Online supplemental material is available for this article. ©RSNA, 2022.


Subject(s)
Prostate , Solitary Fibrous Tumors , Biomarkers, Tumor/genetics , Diagnosis, Differential , Humans , Male , Neoplasm Recurrence, Local , Prostate/diagnostic imaging , Prostate/pathology , Seminal Vesicles/diagnostic imaging , Seminal Vesicles/pathology , Solitary Fibrous Tumors/pathology
6.
J Comput Assist Tomogr ; 46(5): 676-681, 2022.
Article in English | MEDLINE | ID: mdl-35759779

ABSTRACT

ABSTRACT: Also referred to as "osteoclast-rich, clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT)," malignant gastrointestinal neuroectodermal tumor is a newly described, rare, aggressive sarcoma that commonly arises in the small bowel, stomach, and colon. Histogenesis is likely from an autonomous nervous system-related primitive cell of neural crest origin. The hallmark genetic finding of EWS-CREB1 or EWS-ATF1 fusion transcripts clinches the diagnosis. Annular constrictive lesions tend to be smaller, show homogenous contrast enhancement on computed tomography, and may present with bowel obstruction. Larger, expansile masses tend to be exophytic and show heterogeneous contrast enhancement. Surgical resection is the mainstay of treatment. Frequent recurrences, metastases, and death from disease in 75% of patients portend a poor prognosis. Targeted chemotherapy based on specific tumor pathways is being developed.


Subject(s)
Gastrointestinal Neoplasms , Neuroectodermal Tumors , Sarcoma, Clear Cell , Soft Tissue Neoplasms , Gastrointestinal Neoplasms/diagnostic imaging , Gastrointestinal Neoplasms/pathology , Humans , Neuroectodermal Tumors/diagnostic imaging , Neuroectodermal Tumors/pathology , Sarcoma, Clear Cell/genetics , Sarcoma, Clear Cell/pathology
7.
J Comput Assist Tomogr ; 45(3): 431-441, 2021.
Article in English | MEDLINE | ID: mdl-34297512

ABSTRACT

INTRODUCTION: Nuclear protein of the testis (NUT) carcinoma (formerly NUT midline carcinoma) is an aggressive tumor with characteristic BRD4-NUTM1 translocation and a poor prognosis. The primary objective of this study was to describe the clinical and radiologic features, treatment response, and survival of NUT carcinoma (NC). MATERIALS AND METHODS: This retrospective single-center study was based on the review of medical records of NC patients with a specific genetic rearrangement or positive anti-NUT nuclear staining. Overall survival (OS) was analyzed according to primary tumor location. RESULTS: This series of 22 patients had a mean age of 36.27 ± 2.68 years with 68% women and 32% men. The median age at diagnosis was 34 years (range, 17-55 years). The primary tumor was located in the chest (n = 12/22; 55%), head and neck (n = 9/22; 40%), and 1 patient had a renal tumor. About 68% (n = 15/22) patients presented with regional lymph nodal involvement and 77% (n = 17/22) had distant metastases. All the bone metastases were lytic (100%) with mixed lytic and sclerotic metastases in 5 patients. Only 18% (n = 4/22) of the patients showed response to treatment, with progression in the remaining 18 patients. The median OS was 7 months. The OS was significantly (P = 0.024) more in patients with primary head and neck NC (n = 9; OS, 16 months) versus those with pulmonary and other locations (n = 13; OS, 6 months). CONCLUSIONS: Nuclear protein of the testis carcinoma is an aggressive disease refractory to conventional therapy. Imaging with the complementary use of computed tomography, magnetic resonance imaging, and positron emission tomography/computed tomography is important for staging, guiding management, assessing the treatment response, and surveillance.


Subject(s)
Bone Neoplasms/diagnostic imaging , Bone Neoplasms/secondary , Carcinoma/diagnostic imaging , Head and Neck Neoplasms/diagnostic imaging , Kidney Neoplasms/diagnostic imaging , Neoplasm Proteins/metabolism , Nuclear Proteins/metabolism , Adolescent , Adult , Bone Neoplasms/metabolism , Bone Neoplasms/mortality , Carcinoma/metabolism , Carcinoma/mortality , Female , Head and Neck Neoplasms/metabolism , Head and Neck Neoplasms/mortality , Humans , Kidney Neoplasms/metabolism , Kidney Neoplasms/mortality , Magnetic Resonance Imaging , Male , Middle Aged , Positron-Emission Tomography , Prognosis , Retrospective Studies , Survival Analysis , Tomography, X-Ray Computed , Young Adult
8.
Mod Pathol ; 33(10): 2067-2074, 2020 10.
Article in English | MEDLINE | ID: mdl-32404956

ABSTRACT

Acral lentiginous melanoma (ALM) is a rare tumor that occurs on non-sun exposed skin areas of the hands and feet. Reports suggest that ALM exhibits poor prognosis, although mechanisms driving this remain poorly understood. Alterations in TERT and the Wnt/ß-catenin (Wnt) pathway have been suggested to correlate with prognosis of ALM. Thus, immunohistochemical expression of ß-catenin and LEF1 along with TERT amplification by FISH was investigated in 34 primary ALMs, 20 metastatic ALMs, 10 primary non-ALMs, and 15 acral nevi. Foot/toe was the most common primary tumor location (85%) for ALM. TERT amplification was detected in 6 of 28 (21.4%) primary ALM, 2 of 8 (25%) primary non-ALM, and 8 of 18 (44.4%) metastatic ALM, the latter showing significantly higher frequency compared with primary melanomas (P = 0.043). Most metastatic ALMs positive for TERT amplification lacked BRAF V600E (87.5%). Cytoplasmic and nonnuclear expression of ß-catenin was variably detected in all cases. Metastatic ALM revealed lower expression of ß-catenin compared with primary ALM (P = 0.017). No differences in LEF1 expression were detected among the groups; however, acral nevi showed decreased labeling with dermal descent, in contrast to melanoma. No molecular-genetic alteration correlated with prognosis. TERT amplification by FISH is a frequent finding in primary ALM and appears to increase in metastatic tumors, suggesting a role in tumor progression to metastasis. Although TERT amplification has been reported to be infrequent in primary non-ALM, it showed comparable frequency with ALM in our series. Our immunohistochemical findings are not fully supportive of activation of either canonical or noncanonical Wnt cascades in ALM. TERT amplification by FISH and LEF1 immunohistochemistry may help in the differential diagnosis between primary ALM and acral nevus. TERT amplification appears to be a promising target for therapy in patients with metastatic ALM.


Subject(s)
Biomarkers, Tumor/analysis , Melanoma/pathology , Skin Neoplasms/pathology , Telomerase/genetics , Aged , Disease Progression , Female , Foot/pathology , Gene Amplification , Hand/pathology , Humans , Male , Melanoma/genetics , Melanoma/metabolism , Middle Aged , Skin Neoplasms/genetics , Skin Neoplasms/metabolism , Wnt Signaling Pathway/physiology , Melanoma, Cutaneous Malignant
9.
Radiographics ; 40(6): 1600-1626, 2020 Oct.
Article in English | MEDLINE | ID: mdl-33001791

ABSTRACT

Technologic advances in chromosomal analysis and DNA sequencing have enabled genome-wide analysis of cancer cells, yielding considerable data on the genetic basis of malignancies. Evolving knowledge of tumor genetics and oncologic pathways has led to a better understanding of histopathologic features, tumor classification, tumor biologic characteristics, and imaging findings and discovery of targeted therapeutic agents. Radiogenomics is a rapidly evolving field of imaging research aimed at correlating imaging features with gene mutations and gene expression patterns, and it may provide surrogate imaging biomarkers that may supplant genetic tests and be used to predict treatment response and prognosis and guide personalized treatment options. Multidetector CT, multiparametric MRI, and PET with use of multiple radiotracers are some of the imaging techniques commonly used to assess radiogenomic associations. Select abdominal malignancies demonstrate characteristic imaging features that correspond to gene mutations. Recent advances have enabled us to understand the genetics of steatotic and nonsteatotic hepatocellular adenomas, a plethora of morphologic-molecular subtypes of hepatic malignancies, a variety of clear cell and non-clear cell renal cell carcinomas, a myriad of hereditary and sporadic exocrine and neuroendocrine tumors of the pancreas, and the development of targeted therapeutic agents for gastrointestinal stromal tumors based on characteristic KIT gene mutations. Mutations associated with aggressive phenotypes of these malignancies can sometimes be predicted on the basis of their imaging characteristics. Radiologists should be familiar with the genetics and pathogenesis of common cancers that have associated imaging biomarkers, which can help them be integral members of the cancer management team and guide clinicians and pathologists. Online supplemental material is available for this article. ©RSNA, 2020 See discussion on this article by Luna (pp 1627-1630).


Subject(s)
Abdominal Neoplasms/diagnostic imaging , Abdominal Neoplasms/genetics , Biomarkers, Tumor/genetics , Genes, Neoplasm/genetics , Genomics/methods , Genetic Predisposition to Disease , Humans , Mutation , Phenotype
10.
J Cutan Pathol ; 44(9): 790-793, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28605142

ABSTRACT

Friend leukemia integration site 1 (FLI-1) nuclear transcription factor has been proposed as a suitable tool in the differential diagnosis of small round cell sarcomas. It has also been described as a nuclear marker of endothelial differentiation. Expression of FLI-1 has been demonstrated in Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) and vascular neoplasms. In the present study, we describe 2 cases of metastatic melanoma with small round blue cell morphology that showed strong nuclear expression of FLI-1. Because of the small round blue cell morphology and negative immunohistochemical staining for pan-melanocytic cocktail (HMB45, anti MART1 and anti-tyrosinase) and SOX10 in both cases, FLI-1 immunostaining was requested as part of the tumors workup. Ultimately, both cases were established as being metastatic melanoma. Dermatopathologists should be aware that melanoma can be strongly positive for FLI-1 and not misinterpret these cases for ES/PNET or vascular lesions, especially when melanomas show unusual morphology.


Subject(s)
Biomarkers, Tumor/analysis , Melanoma/pathology , Microfilament Proteins/biosynthesis , Receptors, Cytoplasmic and Nuclear/biosynthesis , Skin Neoplasms/pathology , Aged , Humans , Male , Melanoma/metabolism , Middle Aged , Skin Neoplasms/metabolism , Trans-Activators , Melanoma, Cutaneous Malignant
11.
Am J Forensic Med Pathol ; 38(3): 262-265, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28665830

ABSTRACT

INTRODUCTION: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumors. They are surgically curable but can be lethal if remain undiagnosed. We report a patient earlier diagnosed with malignant hyperthermia but later found to have pheochromocytoma on autopsy. CASE REPORT: After a preprocedural pain block for elective right shoulder arthroscopy, a 53-year-old hypertensive white man developed chest pain. In the operating room, he had increased blood pressure. Postoperatively, his blood pressures dropped from 220/100 to 80/30 mm Hg. He later developed high fever with core temperature reaching a peak of 42.2°C, rapid breathing, and died after unsuccessful attempts to stabilize him. AUTOPSY: Autopsy revealed a tumor in his right adrenal gland, measuring 10 cm in greatest dimension and weighing 530 g. It was red brown with a hemorrhagic and cystic cut surface. A thin rim of yellow-orange adrenal cortex was visible at the margin of the tumor, indicating that it originated from the underlying adrenal medulla. The left adrenal gland was unremarkable.Sections showed hypercellular tumor with zellballen architecture. The tumor cells were round to oval with finely granular basophilic cytoplasm and mild pleomorphism. A 24-hour urine sample collected before his death showed greater than 22727 µg/g Ratio to Creatinine metanephrines and normetanephrine, indicating that the tumor was active and secreted high levels of catecholamine. The cause of death was established as the complications of pheochromocytoma in the settings of general anesthesia for shoulder arthroscopy. The manner of death was natural. CONCLUSIONS: Pheochromocytoma can mimic malignant hyperthermia, and it should always be considered and managed appropriately in such scenarios to avoid untoward consequences. Pathologists must also be aware of this when conducting an autopsy in cases with a previous clinical diagnosis of malignant hyperthermia.


Subject(s)
Adrenal Gland Neoplasms/diagnosis , Pheochromocytoma/diagnosis , Arthroscopy , Catecholamines/blood , Catecholamines/urine , Chest Pain/etiology , Diagnosis, Differential , Fatal Outcome , Fever/etiology , Humans , Hypotension/etiology , Male , Malignant Hyperthermia/diagnosis , Middle Aged , Postoperative Complications
12.
Am J Dermatopathol ; 38(10): e147-9, 2016 10.
Article in English | MEDLINE | ID: mdl-27533072

ABSTRACT

Primary cutaneous γ/δ T-cell lymphoma (PCGDTCL) accounts for <1% of all primary cutaneous lymphomas. These rare diseases are believed to originate from γ/δ lymphocytes. Clinical presentation may vary, but its clinical behavior is regarded as aggressive and long-term survival is anecdotal. This study describes the case of a 60-year-old man with multiple, rapidly progressing skin plaques on his head, arms, torso, buttocks, and legs. The histopathological changes seen in the skin biopsy were extraordinarily subtle with mild epidermal hyperplasia and a very sparse lymphoid infiltrate involving epidermis and superficial dermis. Immunohistochemical studies revealed the atypical intraepidermal hyperchromatic cells to be mostly positive for CD3 and CD7 and negative for both CD4 and CD8. The intraepidermal atypical lymphocytes were positive for TCR gamma, and negative for betaF1 and CD56. The clinical, morphologic, and immunohistochemical findings supported the diagnosis of PCGDTCL. This case illustrates a case of epidermotropic variant of PCGDTCL that, albeit a bland histopathological presentation, was associated with an aggressive clinical behavior.


Subject(s)
Biomarkers, Tumor/analysis , Lymphoma, T-Cell, Cutaneous/pathology , Receptors, Antigen, T-Cell, gamma-delta/analysis , Skin Neoplasms/pathology , Biopsy , Humans , Immunohistochemistry , Immunophenotyping , Lymphoma, T-Cell, Cutaneous/immunology , Lymphoma, T-Cell, Cutaneous/therapy , Male , Middle Aged , Phenotype , Predictive Value of Tests , Skin Neoplasms/immunology , Skin Neoplasms/therapy
13.
Am J Dermatopathol ; 37(8): e96-9, 2015 Aug.
Article in English | MEDLINE | ID: mdl-25839886

ABSTRACT

There have been major developments in targeted therapeutics with the clinical development of selective BRAF inhibitors (BRAFi) for patients with metastatic BRAF V600E mutant melanoma. Objective response rate of almost 50% has been witnessed in BRAFi clinical trials. Frequent side effects range from squamoproliferative lesions, including hyperplasia, keratoacanthomas, and squamous cell carcinomas to second primary melanomas. We describe a 50-year-old Hispanic woman with BRAF V600E mutant metastatic melanoma who was treated with surgery, radiation therapy, interleukin-2, and was enrolled on a BRAFi (dabrafenib) trial. Two months after initiation, she developed multiple erythematous, indurated, tender subcutaneous nodules bilaterally on the anterior thighs, posterior arms, and left dorsal forearm without overlying epidermal change. Punch biopsy revealed panniculitis with necrotizing granulomata. Infectious and other causes for panniculitis were excluded. We believe the histology likely represents a reaction to BRAFi therapy based on the temporal relationship of its onset to initiation of BRAFi therapy and previously reported cases of neutrophilic panniculitis associated with BRAFi therapy. Panniculitis has been emerging as an important unusual side effect of BRAFi therapy. Our case illustrates a unique presentation of BRAFi-associated panniculitis demonstrating necrotizing granulomata.


Subject(s)
Antineoplastic Agents/adverse effects , Granuloma/chemically induced , Imidazoles/adverse effects , Melanoma/drug therapy , Oximes/adverse effects , Panniculitis/chemically induced , Skin Neoplasms/drug therapy , Skin/pathology , Female , Humans , Melanoma/genetics , Melanoma/secondary , Middle Aged , Necrosis/chemically induced , Proto-Oncogene Proteins B-raf/genetics , Skin Neoplasms/genetics , Skin Neoplasms/pathology
14.
Cancer Cytopathol ; 132(3): 179-185, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38174804

ABSTRACT

BACKGROUND: Amyloid, presenting as a mass, is termed amyloidoma. Among the reported cases, fine-needle aspiration (FNA) of amyloid is often misinterpreted as acellular nondiagnostic material. METHODS: A computer search of all FNAs was performed and cases diagnosed as amyloidoma were identified. RESULTS: Among 11,956 cases and 20,634 FNAs, there were six cases and 12 FNAs of amyloidoma. One case with mucin/myxoid matrix was misinterpreted as amyloid, which on our review was Congo red negative. All five other cases of amyloidoma were adequate for evaluation. The smears showed most of the aspirated contents in the middle of the slide and it did not spread when smeared. The amyloid was present as large chunks of waxy, smooth, orangophilic/cyanophilic fragments on Papanicolaou stain and as basophilic fragments on Diff-Quik stain in a clean background. In cases with lymphoma/myeloma, there were admixed lymphocytes and/or plasma cells. Unlike fibrous tissue, amyloid aspirates well and provides adequate material for interpretation. The clean background distinguishes it from mucin/myxoid matrix. Congo red stain was positive with apple green birefringence in all five cases. Further subtyping by mass spectrometry showed AL (κ) type in three patients and AIns (insulin) type in one patient. In one patient with lymphoma, the subtyping was not done. CONCLUSION: FNA of amyloidoma is rare (0.04%), but an optimal method for diagnosis and subtyping, avoiding unwanted surgical interventions. Although mistaken for fibrous tissue, which aspirates poorly, abundant acellular orangophilic/cyanophilic material on FNA should raise a suspicion for amyloid. Unlike mucin/myxoid matrix, amyloid does not smear the background.


Subject(s)
Amyloidosis , Lymphoma , Soft Tissue Neoplasms , Humans , Biopsy, Fine-Needle , Congo Red , Amyloidosis/diagnosis , Amyloidosis/pathology , Amyloid/analysis , Mucins
15.
Diagn Cytopathol ; 52(5): E116-E119, 2024 May.
Article in English | MEDLINE | ID: mdl-38366875

ABSTRACT

Amyloid is an extracellular deposition of Congo red positive material which shows apple green birefringence under polarized light. A cytopathologist can uncommonly encounter such cases. Among the reported cases, a fine-needle aspiration (FNA) of amyloid is frequently misinterpreted as acellular nondiagnostic material. We report a case of amyloidoma of the right upper arm in a 68-year-old man with history of renal transplantation for diabetic nephropathy who presented with loss of appetite and weight loss. Physical exam showed a 7 cm hard nodular subcutaneous mass in the right upper arm. FNA yielded abundant acellular, irregular fragments of dense material, which was Congo red positive with apple green birefringence by polarized light, consistent with amyloid. Further subtyping of the amyloid by mass spectrometry, showed AIns (insulin)-type amyloid deposition. After further questioning, the patient admitted to injecting insulin at the same site for many years. Awareness of the cytological features is important for diagnosis. This is especially important when dealing with uncommon sites and without adequate clinical information.


Subject(s)
Amyloidosis , Soft Tissue Neoplasms , Male , Humans , Aged , Insulin , Biopsy, Fine-Needle , Congo Red , Amyloidosis/diagnosis , Amyloid , Extremities
16.
Abdom Radiol (NY) ; 49(5): 1716-1733, 2024 05.
Article in English | MEDLINE | ID: mdl-38691132

ABSTRACT

There is a diverse group of non-gastrointestinal stromal tumor (GIST), mesenchymal neoplasms of the gastrointestinal (GI) tract that demonstrate characteristic pathology and histogenesis as well as variable imaging findings and biological behavior. Recent advancements in tumor genetics have unveiled specific abnormalities associated with certain tumors, influencing their molecular pathogenesis, biology, response to treatment, and prognosis. Notably, giant fibrovascular polyps of the esophagus, identified through MDM2 gene amplifications, are now classified as liposarcomas. Some tumors exhibit distinctive patterns of disease distribution. Glomus tumors and plexiform fibromyxomas exhibit a pronounced affinity for the gastric antrum. In contrast, smooth muscle tumors within the GI tract are predominantly found in the esophagus and colorectum, surpassing the incidence of GISTs in these locations. Surgical resection suffices for symptomatic benign tumors; multimodality treatment may be necessary for frank sarcomas. This article aims to elucidate the cross-sectional imaging findings associated with a wide spectrum of these tumors, providing insights that align with their histopathological features.


Subject(s)
Gastrointestinal Neoplasms , Humans , Gastrointestinal Neoplasms/diagnostic imaging , Gastrointestinal Neoplasms/genetics , Gastrointestinal Neoplasms/pathology , Gastrointestinal Stromal Tumors/diagnostic imaging , Gastrointestinal Stromal Tumors/genetics , Gastrointestinal Stromal Tumors/pathology , Diagnostic Imaging/methods
17.
Cureus ; 16(6): e62862, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39040767

ABSTRACT

Basal cell carcinoma (BCC) is the most common cutaneous malignancy, comprising approximately 80% of non-melanoma skin cancers. There are numerous subtypes, including pigmented basal cell carcinoma (pBCC), a rare clinical and histological variant. Skin cancers in African American patients, although rare, still do occur. BCC is an uncommon neoplasm in this population, but when it does occur, pigmentation is present in more than 50% of tumors compared with only 5% to 6% of BCCs in Caucasians. This report presents two cases of histologically verified pBCC in African American patients from dermatology clinics at the Veterans Affairs Hospital located in the Texas Medical Center. With the population of the United States growing more diverse, these cases emphasize the importance of recognizing the nuanced morphology of BCC in the skin of color compared to lighter-skinned counterparts. This is especially necessary, as early detection and prompt management are key to combating the disproportionately high morbidity and mortality related to skin cancers affecting patients of color.

18.
Abdom Radiol (NY) ; 2024 Jun 27.
Article in English | MEDLINE | ID: mdl-38937338

ABSTRACT

A wide spectrum of benign and malignant primary mesenchymal tumors and tumor-like lesions of the spleen has been recently included under the umbrella term 'stroma-derived' neoplasms and tumor-like lesions. These include dendritic cell neoplasms such as follicular dendritic cell sarcoma, EBV-positive inflammatory follicular dendritic cell sarcoma, and fibroblastic reticular cell tumor; smooth muscle and myofibroblastic lesions such as inflammatory pseudotumor, EBV-associated smooth muscle tumor and undifferentiated pleomorphic sarcoma as well as a diverse spectrum of vascular and vascular-stromal tumors and tumor-like lesions. While some tumor and tumor-like lesions are unique to the spleen, others may also occur in diverse extra-splenic viscera. These tumors and tumor-like lesions demonstrate characteristic histopathology, immunocytochemistry and biological behavior. While cross-sectional imaging studies allow detection, staging and limited characterization of these splenic lesions, histopathological confirmation permits optimal management and surveillance strategies.

19.
Diagn Cytopathol ; 51(2): 140-145, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36334039

ABSTRACT

INTRODUCTION: Scalp masses are often the initial presentation of a widely disseminated malignancy. Fine-needle aspiration (FNA) is an optimal method for obtaining an accurate tissue diagnosis, in these patients with initial presentation and those with a known malignancy. MATERIALS AND METHODS: We reviewed all FNAs of skin and soft tissue lesions from the scalp at our institution over a period of 31 years (1990-2021). Relevant clinical information was obtained from the review of computerized patient record. The histologic type, presentation, previous diagnoses, and survival after the diagnosis were correlated. RESULTS: Thirty patients with scalp masses were identified. All the patients were males with a median age of 61 years (27-81 years). The scalp masses ranged from 0.4 to 6 cm in size. Ten cases (33%) were benign, but the majority of cases (n = 20, 67%) were malignant. Of the malignant lesions sampled, 1 case was a primary squamous-cell carcinoma (SCC), and the remaining 19 cases were metastatic tumors. Of these, 13 cases (68.4%) had a previously diagnosed malignancy. Most of the 19 metastatic lesions were adenocarcinomas or poorly differentiated carcinomas (n = 12, 63.2%), followed by melanoma (n = 4), SCC (n = 1), alveolar soft part sarcoma (n = 1) and large cell lymphoma (n = 1). The most common site of primary was the gastrointestinal tract (6/19, 31.5%) and lung (6/19, 31.5%). The average survival after the diagnosis of these scalp metastases was around 6.3 months, signifying a poor prognosis. CONCLUSION: In our patient population, most scalp masses were metastatic tumors. Metastasis to the scalp signals advanced disease and is associated with a very poor prognosis. FNA is an easy, safe, rapid, cost effective and precise modality for diagnosing these masses. It can also yield material for molecular testing for newer directed therapies, if needed.


Subject(s)
Adenocarcinoma , Carcinoma, Squamous Cell , Male , Humans , Middle Aged , Female , Biopsy, Fine-Needle/methods , Scalp
20.
Diagn Cytopathol ; 50(7): 335-340, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35403368

ABSTRACT

BACKGROUND: Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide and it may present initially with extrahepatic spread in 5%-15% cases. It most commonly metastasizes to lungs, lymph nodes and adrenal glands. Skeletal metastases from HCC are uncommon and carry a very poor prognosis. METHODS: We retrospectively reviewed all fine needle aspiration (FNA) specimens of metastatic HCC at our institution from January 1994 to March 2021 using the SNOMED search computer option. Relevant clinical information was obtained from the review of patient's electronic medical records. RESULTS: There were 36 FNAs of metastatic HCC over a period of 27 years. Six patients (16.7%) were found to have skeletal metastases. All six patients were males with a median age of 59 years (54-71 years) and their lesions were osteolytic. The most common site of metastases was vertebra (3/50%). Most patients (67%) had bone metastases as an initial presentation, without prior history of HCC. The mean survival after the diagnosis of skeletal metastases was only 8 months. CONCLUSION: Detection of extrahepatic HCC to bone is important to avoid any unwanted surgical intervention. In our patient population, the most common site of skeletal metastases from HCC was vertebra, therefore in FNAs of vertebral lytic masses, metastatic HCC should be considered. On FNA, extrahepatic metastases of HCC can mimic other poorly differentiated tumors. They behave in an aggressive fashion, resulting in a grim prognosis. Cytological substrates can be used for future molecular testing, if needed.


Subject(s)
Carcinoma, Hepatocellular , Liver Neoplasms , Veterans , Biopsy, Fine-Needle , Carcinoma, Hepatocellular/diagnosis , Carcinoma, Hepatocellular/pathology , Female , Humans , Liver Neoplasms/diagnosis , Liver Neoplasms/pathology , Male , Middle Aged , Retrospective Studies
SELECTION OF CITATIONS
SEARCH DETAIL