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Gastrointestinal Tumors 2023Gastrointestinal mast cell sarcoma is a rare variant of mastocytosis. It is a unifocal tumor with high destructive capacity and metastatic potential. Diagnosis of mast...
Gastrointestinal mast cell sarcoma is a rare variant of mastocytosis. It is a unifocal tumor with high destructive capacity and metastatic potential. Diagnosis of mast cell sarcoma can be challenging and might be so delayed that unfavorable prognosis may be expected. In this case report, we will describe our experience with a case of mast cell sarcoma in the small intestine of an elderly woman, which was diagnosed early on throughout the course of her disease and successfully treated. The patient was a 59-year-old woman who presented with abdominal pain, flushing, weight loss, and vomiting. Imaging studies supported the existence of an infiltrative neoplasm in the jejunum. Then, surgical removal of the tumor was performed. The presence of mast cells in the resected tumor was confirmed by immunohistochemistry, histopathology, and Giemsa staining. After almost a year of follow-up, the patient's overall condition was fine, and no signs of recurrence were found. This is the first reported case of successfully treated gastrointestinal mast cell sarcoma. All of the previously reported cases had been diagnosed after recurrence with no response to treatment. Our case shows the significance of early diagnosis and treatment in this condition and its impact on outcome and prognosis. That could be achieved only if the pathologist has a high suspicion for this rare disease and keeps it in the back of one's mind.
PubMed: 36742415
DOI: 10.1159/000528887 -
BMC Cancer Jan 2023Mastocytosis is a very rare disorder and is divided into three prognostically distinct variants by World Health Organization: Cutaneous mastocytosis (CM), systemic...
Mastocytosis is a very rare disorder and is divided into three prognostically distinct variants by World Health Organization: Cutaneous mastocytosis (CM), systemic mastocytosis (SM), and mast cell sarcoma or localized mast cell (MC) tumors. The wide range of complaints may cause patients to consult various clinics, with resulting mis- or underdiagnosis. Therefore, cooperation between different subspecialties is of paramount importance. In this article, we have compiled 104 adult mastocytosis cases diagnosed and followed in our Hematology and other clinics. 86 (82.7%) of 104 patients had systemic mastocytosis. Osteoporosis, disease-related complications, and secondary malignancies are important topics in this group. We know that indolent form has great survival. But smoldering or aggressive mastocytosis has a poor prognosis. CM and indolent SM have a significantly better prognosis compared to aggressive SM (p < 0.001). We found that the presence of more than 25% of mast cells in the bone marrow, the presence of concomitant marrow dysplasia, and the presence of disease-related complications affect survival (p < 0.001). In addition to the WHO classification, the IPSM scoring system is indicative of the prognosis in this rare disease.
Topics: Adult; Humans; Mastocytosis, Systemic; Mastocytosis; Mast Cells; Bone Marrow; Prognosis; Myeloproliferative Disorders
PubMed: 36694141
DOI: 10.1186/s12885-022-10498-3 -
Topics in Companion Animal Medicine 2023This paper describes the clinical and pathological features of 4 different tumors, located in the integumentary, digestive, and endocrine systems, presenting in a North...
This paper describes the clinical and pathological features of 4 different tumors, located in the integumentary, digestive, and endocrine systems, presenting in a North African hedgehog (Atelerix algirus). A 3.5-year-old female hedgehog was presented with a cutaneous mass on the right flank. The lesion consisted of a well-differentiated dermal mast cell tumor with no recurrence and metastasis after complete surgical excision. Six months later, the hedgehog developed a mass in the left lower jaw, lethargy, anorexia, and progressive weight loss. Clinical and radiographic evaluations revealed swelling, ulceration, displacement, and destruction of subjacent bone tissue, and the animal died 1 month after the onset of clinical signs. At necropsy, 2 neoplasms in the oral cavity (squamous cell carcinoma and histiocytic sarcoma) and multiple myelolipomas in the adrenal glands were detected. Metastasis of the oral squamous cell carcinoma was observed in the lungs. Although neoplasms are frequent in this species, and more than 1 type of tumor in a single individual has been occasionally reported, this is the first description of both myelolipoma and multiple concurrent neoplasms involving various organs and different cellular origins in a hedgehog.
Topics: Animals; Female; Carcinoma, Squamous Cell; Hedgehogs; Mouth Neoplasms
PubMed: 36587869
DOI: 10.1016/j.tcam.2022.100758 -
Frontiers in Oncology 2022Uterine leiomyosarcoma (ULMS) is the most common subtype of uterine sarcoma and is difficult to discern from uterine leiomyoma (ULM) preoperatively. The aim of the...
OBJECTIVE
Uterine leiomyosarcoma (ULMS) is the most common subtype of uterine sarcoma and is difficult to discern from uterine leiomyoma (ULM) preoperatively. The aim of the study was to determine the potential and significance of immunerelated diagnostic biomarkers in distinguishing ULMS from ULM.
METHODS
Two public gene expression profiles (GSE36610 and GSE64763) from the GEO datasets containing ULMS and ULM samples were downloaded. Differentially expressed genes (DEGs) were selected and determined among 37 ULMS and 25 ULM control samples. The DEGs were used for Gene Ontology (GO), Kyoto Encyclopaedia of Genes and Genomes (KEGG) and Disease Ontology (DO) enrichment analyses as well as gene set enrichment analysis (GSEA). The candidate biomarkers were identified by least absolute shrinkage and selection operator (LASSO) and support vector machine recursive feature elimination (SVM-RFE) analyses. The receiver operating characteristic curve (ROC) was applied to evaluate diagnostic ability. For further confirmation, the biomarker expression levels and diagnostic value in ULMS were verified in the GSE9511 and GSE68295 datasets (12 ULMS and 10 ULM), and validated by immunohistochemistry (IHC). The CIBERSORT algorithm was used to calculate the compositional patterns of 22 types of immune cells in ULMS.
RESULT
In total, 55 DEGs were recognized GO analysis, and KEGG analyses revealed that the DEGs were enriched in nuclear division, and cell cycle. The recognized DEGs were primarily implicated in non-small cell lung carcinoma and breast carcinoma. Gene sets related to the cell cycle and DNA replication were activated in ULMS. and were distinguished as diagnostic biomarkers of ULMS (AUC = 0.957, AUC = 0.899, respectively), and they were verified in the GSE9511 and GSE68295 datasets (AUC = 0.983, AUC = 0.942, respectively). The low expression of and were associated with ULMS. In addition, the analysis of the immune microenvironment indicated that resting mast cells were positively correlated with and expression and that eosinophils and M0 macrophages were negatively correlated with expression (P<0.05).
CONCLUSION
These findings indicated that and are diagnostic biomarkers of ULMS, thereby offering a novel perspective for future studies on the occurrence, function and molecular mechanisms of ULMS.
PubMed: 36531033
DOI: 10.3389/fonc.2022.1084192 -
American Journal of Hematology Mar 2023
Topics: Humans; Mast-Cell Sarcoma; Mast Cells
PubMed: 36464921
DOI: 10.1002/ajh.26804 -
Virchows Archiv : An International... Jan 2023Mastocytosis is a neoplasm characterized by a clonal proliferation of mast cells, which accumulate in one or multiple organs, associated with an extremely heterogeneous... (Review)
Review
Mastocytosis is a neoplasm characterized by a clonal proliferation of mast cells, which accumulate in one or multiple organs, associated with an extremely heterogeneous clinical presentation. The disease can be limited to the skin (cutaneous mastocytosis) that is mostly seen in childhood and usually behaves in a benign fashion. Adult patients most often present with systemic disease with or without skin lesions. This includes indolent forms such as indolent systemic mastocytosis and its subvariant bone marrow mastocytosis, and smoldering systemic mastocytosis as well as aggressive forms including aggressive systemic mastocytosis, systemic mastocytosis with an associated myeloid neoplasm (previously called systemic mastocytosis with an associated hematologic neoplasm), and mast cell leukemia. In addition, mast cell sarcoma is a rare aggressive form of mastocytosis that can present in the skin as well as at extracutaneous sites. This review article focuses on the updates in mastocytosis of the 2022 international consensus classification (ICC).
Topics: Adult; Humans; Mastocytosis, Systemic; Consensus; Mastocytosis; Mast Cells; Leukemia, Mast-Cell
PubMed: 36214901
DOI: 10.1007/s00428-022-03423-3 -
Veterinary Sciences Sep 2022Background: Gastrointestinal masses in cats are of clinical relevance, but pathological studies with larger case numbers are lacking. Biomarkers such as miRNA have not...
Background: Gastrointestinal masses in cats are of clinical relevance, but pathological studies with larger case numbers are lacking. Biomarkers such as miRNA have not yet been investigated in feline intestinal neoplasms. Methods: A retrospective analysis of pathology reports included 860 feline gastrointestinal masses. Immunohistochemistry was performed on 91 lymphomas, 10 sarcomas and 7 mast cell tumours (MCT). Analyses of miRNA-20b and miRNA-192 were performed on 11 lymphomas, 5 carcinomas and 5 control tissues by ddPCR. Results: The pathological diagnosis identified 679 lymphomas, 122 carcinomas, 28 sarcomas, 23 polyps, 7 MCT and 1 leiomyoma. Carcinomas and polyps were most commonly found in the large intestine, lymphomas were most commonly found in the stomach and small intestine and MCT only occurred in the small intestine. Besides the well-described small-cell, mitotic count <2 T-cell lymphomas and the large-cell B-cell lymphomas with a high mitotic count, several variants of lymphomas were identified. The values of miRNA-20b were found to be up-regulated in samples of all types of cancer, whereas miRNA-192 was only up-regulated in carcinomas and B-cell lymphomas. Conclusions: The histopathological and immunohistochemical (sub-)classification of feline intestinal masses confirmed the occurrence of different tumour types, with lymphoma being the most frequent neoplasm. Novel biomarkers such as miRNA-20b and miRNA-192 might have diagnostic potential in feline intestinal neoplasms and should be further investigated.
PubMed: 36136693
DOI: 10.3390/vetsci9090477 -
Clinical Pathology (Thousand Oaks,... 2022Mastocytosis is a rare disorder affecting both children and adults by gathering of functionally defective mast cells in the body's tissues. The World Health Organization...
Mastocytosis is a rare disorder affecting both children and adults by gathering of functionally defective mast cells in the body's tissues. The World Health Organization (WHO) classified mastocytosis into cutaneous mastocytosis, systemic mastocytosis (SM), and mast cell sarcoma (MCS). We hereby present a case of retroperitoneal MCS with concurrent systemic mastocytosis and an undisclosed associated hematological neoplasm (SM-undisclosed AHN). The diagnosis of MCS and SM was made after the second biopsy over retroperitoneal mass, lymph node, and ovary for rapidly progressive disease with the presentation of unexplained recurrent flushing, palpitation, and shock, in addition to abdominal pain. A clonal myeloid neoplasm was also suspected by the karyotype and hemogram data. Unfortunately, the patient succumbed to the disease quickly. Apart from this unique case, the previously reported cases of SM with MCS in the literature were also reviewed.
PubMed: 36119438
DOI: 10.1177/2632010X221123539 -
Journal of Comparative Pathology Oct 2022Characterization of a tumour entity is based on the precise histopathological diagnosis taking into account the signalment of the diseased animal. The present study is a...
Characterization of a tumour entity is based on the precise histopathological diagnosis taking into account the signalment of the diseased animal. The present study is a comprehensive, up-to-date statistical investigation on the type, frequency and breed distribution of neoplasia in dogs in Germany. The histopathological datasets of 109,616 German canine tissue samples (2014-2019) were processed and statistically examined in retrospect. Non-neoplastic diseases were found in 38,650 samples (35.3%) and 70,966 neoplasms (64.7%) were diagnosed. The most common neoplasms were mammary tumours (21.9%), benign epithelial skin tumours (15.4%), mast cell tumour (9.7%), histiocytoma (7.0%), soft tissue sarcoma (5.8%), lipoma (5.8%), melanocytic tumours (5.2%) and odontogenic tumours (4.7%). In general, Beagles, Magyar Vizslas, Boxers, Schnauzers, Spaniels, French Bulldogs and Golden Retrievers had an increased risk of neoplasia (odds ratio 1.17-1.46; all: P ≤0.001) compared with crossbreed dogs. In particular, Boxers, Golden Retrievers, Rottweilers and Schnauzers were often affected by malignant neoplasms, whereas some breeds (eg, West Highland White Terrier, Magyar Vizsla, Chihuahua, Dachshund and Yorkshire Terrier) were frequently affected by numerous benign tumour types. Despite the known risk of haemangiosarcoma in German Shepherd Dogs, other malignant tumours were rare in this breed. Depending on the type of tumour, some purebred dog breeds can have an increased, reduced or identical risk for certain neoplasms compared with crossbreeds. Discussion of breed predispositions to tumour diseases must therefore be conducted critically and with a view to clinical relevance.
Topics: Animals; Dog Diseases; Dogs; Germany; Incidence; Mammary Neoplasms, Animal; Retrospective Studies
PubMed: 36116890
DOI: 10.1016/j.jcpa.2022.07.009 -
Animals : An Open Access Journal From... Aug 2022Sentinel lymph node (SLN) biopsy is a well-established staging tool in canine oncology. This study aims to explore the feasibility of SLN biopsy in dogs with scars from...
Sentinel lymph node (SLN) biopsy is a well-established staging tool in canine oncology. This study aims to explore the feasibility of SLN biopsy in dogs with scars from prior excised solid malignancies that were referred for further tumor staging and/or adjuvant treatment options. Mapping was either performed using radiopharmaceutical, methylene blue, and/or near-infrared fluorescent (NIRF) imaging. Thirty-three dogs with 34 scars from prior excision of the mast cell tumor (MCT) ( = 29), soft tissue sarcoma ( = 2), oral melanoma ( = 1), subungual melanoma ( = 1), and mammary adenocarcinoma ( = 1) were retrospectively enrolled. Primary treatment consisted of curative intent/wide tumor excisions in 50.0% of dogs and marginal excision in the remaining 50.0%. The median time between tumor excision and SLN biopsy was 50 days (range 17-110 days). The procedure was successful in 31/34 scars, translating to a detection rate of 91.2%. The SLN did not correspond to the regional lymph node in 19/31 scars (61.3%). SLN metastases were histologically identified in 13/31 (41.9%) dogs, all of them affected by MCT. Based on our results, SLN biopsy using lymphoscintigraphy/methylene blue and/or NIRF is feasible in dogs presenting with scars from the prior surgical excision of solid tumors, and should be suggested for accurate nodal staging.
PubMed: 36077914
DOI: 10.3390/ani12172195