scholarly journals A Rare Case of Aggressive Systemic Mastocytosis Involving the Gastrointestinal System and Review of Literature

2021 ◽  
Author(s):  
Jianjun Wang ◽  
Zhong Zheng ◽  
Feng-nan Niu ◽  
Ting Wang ◽  
Biao Zhang ◽  
...  
Keyword(s):  
Mast Cells ◽  
Tumor Cells ◽  
Systemic Mastocytosis ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Proliferation Index ◽  
Pelvic Cavity ◽  
Ki 67 ◽  
S 100 ◽  
Hepatic Portal

Abstract Background Systemic mastocytosis is a rare disease and most patients have pigmented urticarial skin lesions. It can be easily missed and misdiagnosed in small biopsies, especially in those patients with nonspecific clinical complaints or untypical skin lesions. Case presentation We report a case of 69-year-old man who have presented with 2-year of diarrhea, progressive weight loss of 20kg and abdominal distention for 3 months. Ultrasound and abdominal CT scan showed massive effusions in abdominal and pelvic cavity. Colonoscopy was performed and showed intensive mucosal proliferations forming polypoid appearances. Microscopically, monotonously uniform, small, round tumor cells with slightly rich cytoplasm were concentrated between the residual glands in the colonoscopic biopsy. The tumor cells showed positive expression of CD117 and S-100, and low Ki-67 proliferation index of 2%, while Trypsin, CK, CD68, CD1a, Langerin, Syn, CgA, CD56, SATB2, CD20, CD3, α-inhibin and SMA were all negative. KIT D816V mutation was detected as well. Liver biopsy showed that CD117 positive cells were more than 15 cells in aggregates around the hepatic portal area and less than 15% mast cells were found in bone marrow smears. No multiple or diffuse pattern of mast cells infiltration was seen by repeated skin biopsies of skin lesions. With all these considered, the diagnosis of aggressive systemic mastocytosis was made. Conclusions The diagnosis of aggressive systemic mastocytosis is challenging for untypical clinical manifestations and subtle or inconspicuous lesions, especially in endoscopic biopsies, which requires awareness and a close teamwork of pathologists and clinicians.

scholarly journals Histopathological Features and Immunophenotype of Primary Gastric Invasive Fibromatosis

2020 ◽  
Author(s):  
Yangkun Wang ◽  
Zhishang Zhang ◽  
Bo Jiang ◽  
Chaoya Zhu ◽  
Sunan Wang ◽  
...  
Keyword(s):  
Hormone Receptors ◽  
Tumor Tissue ◽  
Gastric Wall ◽  
Clinical Manifestations ◽  
Nerve Tissue ◽  
Proliferation Index ◽  
Fatty Tissue ◽  
Ki 67 ◽  
Positive Expression ◽  
S 100

Abstract Background To investigate the histopathological characteristics, immunophenotype and differential diagnosis of primary gastric invasive fibromatosis.Methods The clinical manifestations, histological morphology and immunophenotype of 4 cases of primary gastric invasive fibromatosis were observed and related literatures were reviewed.Results Among the 4 patients, 2 were males and 2 were females, aged 28 and 47 years, respectively. The lesions were located in the stomach in 2 cases, the gastric antrum in 1 case and cardia in 1 case. Under the microscope, the tumor was located in the submucosa, growing infiltratingly, and infiltrating into the gastric wall muscularis, serous membrane and extraserous fatty tissue. Tumor cells were rich in cytoplasm, with unclear cell boundaries, long rod-shaped nuclei, deep chromatin, no atypia, and rare mitotic figures. The tumor tissue was composed of proliferating spindle-shaped fibroblasts and collagen fibers, and the cell morphology was relatively uniform, arranged in parallel bundles or staggered weaves. Tumor tissue invaded and destroyed smooth muscle, blood vessels, nerve tissue and adipose tissue of the gastric wall. Immunophenotype: positive expression of vimentin, β-catenin, SMA positive expression; CKpan, EMA, S-100 protein, desmin, CD99, Bcl-2, ALK, CD34, CD117, DOG1, hormone receptors were all negative; The cell proliferation index ki-67 positive cells were 3–5%.Conclusion Primary invasive fibromatosis of the stomach is a relatively rare spindle cell tumor, which needs to be differentiated from tumors and pathological lesions such as inflammatory myofibroblastic tumor, plexiform mucinous fibroma, gastrointestinal stromal tumor, etc.

scholarly journals HAEMANGIOPERICYTOMA

2015 ◽  
Vol 22 (03) ◽  
pp. 312-316
Author(s):  
Xiang Longquan ◽  
Henry Mwakyoma
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tumor Cells ◽  
Clinical Manifestations ◽  
Proliferation Index ◽  
High Recurrence Rate ◽  
Imaging Features ◽  
Rare Tumor ◽  
Ki 67 ◽  
Fibrous Tumor

Hemangiopericytoma (HPC) in central nervous system is a rare tumor, his tumorhas a high recurrence rate and the characteristics of extracranial metastases. Objectives:To investigate the clinicopathological features, imaging features, immunohistochemicalphenotype of haemangiopericytoma (HPC) of central nervous system. Design: Hospital basedcrossectional prospective study. Period: From 24th October to 26th October 2012. Setting: FirstPeople’s Hospital of Jining City, China. Methods: The clinical manifestations, imaging features,histopathological and immunohistochemical features were analyzed combining the review of theliterature in one case of central HPC. Results: The Gross examination revealed the size of thetumor was 5cm × 4cm× 1.5cm; the section is gray, medium soft texture, and part of the area hadcapsule. The microscopic examination showed that the tumor cells were abundant and the samesize, showing round, oval or short spindle shape. The cytoplasm was eosinophilic, and part ofit was slightly translucent. The nuclei were ovoid, and the nucleoli were inconspicuous.A lot ofcapillaries lined by endothelial cells were seen in the tumor tissue, and the blood vessels weredilated like “staghorn” in some areas. Immunohistochemistry showed that tumor cells expressedVimentin, CD34, CD99, Bcl-2, PR protein. They didn’t express EMA, SMA, and S-100 protein.The proliferation index of ki-67 is about 4%. Conclusions: The central haemangiopericytomais a rare tumor, having no specific clinical manifestations and imaging features. The finaldiagnosis requires a combination of histopathological and immunohistochemical examination,and it should be differentiated from meningioma, solitary fibrous tumor, hemangioblastoma andmesenchymal chondrosarcoma, etc.

scholarly journals A Rare Primary Tumor of the Thyroid Gland: A New Case of Leiomyoma and Literature Review

2018 ◽  
Vol 12 ◽  
pp. 117955491881353
Author(s):  
Yanling Zhang ◽  
Heng Tang ◽  
Huaiyuan Hu ◽  
Xiang Yong
Keyword(s):  
Thyroid Gland ◽  
Tumor Cells ◽  
Immunohistochemical Staining ◽  
Smooth Muscle Actin ◽  
Frozen Sections ◽  
Ki 67 ◽  
Eosinophilic Cytoplasm ◽  
S 100 ◽  
Painless Mass ◽  
The Right

Primary leiomyomas of the thyroid are very rare. We here report a case of a 53-year-old woman with a painless mass at the right thyroid, revealed by physical examination. The patient underwent a lobectomy. Frozen sections showed a spindle cell tumor of the thyroid gland. The nuclei of some of the tumor cells were obviously enlarged and deeply stained. Pseudocapsule invasion was observed in small foci. Samples showed neither mitosis nor necrosis and the nature of the tumor was difficult to determine. Paraffin sections showed a well-circumscribed nodular composed of intersecting fascicles of spindled to slightly epithelioid cells with eosinophilic cytoplasm and blunt-ended, cigar-shaped nuclei. We observed no significant nuclear atypia, mitotsis, or necrosis. Immunohistochemical staining showed the tumor cells to be positive for α-smooth muscle actin and h-caldesmon but negative for TG, TTF1, PAX8, S-100, CT, CK, and CD34. The ki-67 index was very low (<1%). Primary thyroid leiomyoma is rare and difficult to diagnose using frozen sections. Diagnosis requires immunohistochemical staining. Leiomyoma may be mistaken for other thyroid tumors also characterized by spindle cells.

Histopathological and Clinical Differences Between Primary Breast Carcinomas With Neuroendocrine Features and Primary Breast Carcinomas Mimicking Neuroendocrine Features

2019 ◽  
Vol 27 (7) ◽  
pp. 744-752
Author(s):  
Canan Kelten Talu ◽  
Taha Cumhan Savli ◽  
Gulben Erdem Huq ◽  
Cem Leblebici
Keyword(s):  
Tumor Cells ◽  
Lymphovascular Invasion ◽  
Lymphocytic Infiltration ◽  
Growth Patterns ◽  
Proliferation Index ◽  
Positive Staining ◽  
High Grade ◽  
Breast Carcinomas ◽  
Ki 67 ◽  
Clear Cytoplasm

We aimed to determine the histopathological differences between primary breast carcinomas with neuroendocrine features (NEBC) and carcinomas mimicking neuroendocrine features (NEBC-like). Twenty-three cases with NEBC, all showing positive staining for synaptophysin and/or chromogranin-A in ≥50% of tumor cells and 36 cases with NEBC-like (no staining for neuroendocrine [NE] markers but suspicious for NE morphology in terms of solid/trabecular growth patterns) were included in the study. Significant differences were found between the groups in terms of the patients’ ages, histologic/nuclear grade of tumor, lymphovascular invasion, comedo-type ductal carcinoma in situ (DCIS), microcalcification, Ki-67 proliferation index, nuclear shape, and level of peritumoral lymphocytic infiltration. The presence of large-size solid cohesive groups of tumor cells; plasmocytoid, spindle, and/or columnar shapes of tumor cells; and eosinophilic-granular appearance of cytoplasm were mostly noted in the NEBC group. The presence of small- to medium-sized solid cohesive groups of tumor cells; high-grade histologic and nuclear features; clear cytoplasm; and round to ovoid nucleus were mostly noted in the NEBC-like group. No significant differences were found in terms of tumor size, ER/PR/HER2 status, as well as the presence of DCIS, elastosis, extracellular/intracellular mucin, signet ring cells, apocrine features, and accompanying papilloma or ductal ectasia. In conclusion, small- to medium-sized solid cohesive groups of tumor cells, high-grade features, clear cytoplasm, round to ovoid shape of nucleus, lymphovascular invasion, comedo-type DCIS, microcalcification, high level of Ki-67 proliferation index (≥20%), and moderate/strong level of peritumoral lymphocytic infiltration might support non-NE features in breast carcinomas.

scholarly journals Primary ovarian angiosarcoma: a rare and recognizable ovarian tumor

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Hong Ye ◽  
Min Lin ◽  
Ruotong Li ◽  
Shuming Qin ◽  
Gang Hou ◽  
...  
Keyword(s):  
Targeted Therapy ◽  
Tumor Cells ◽  
Clinical Symptoms ◽  
Malignant Neoplasms ◽  
Proliferative Index ◽  
Ki 67 ◽  
Primary Angiosarcoma ◽  
S 100 ◽  
Cut Surface

AbstractThe diagnosis of primary angiosarcoma of ovary is still a challenge as it has no specific clinical symptoms and is easily confused with other malignant neoplasms in morphology. Here, we described a case of primary ovarian angiosarcoma and reviewed the literature. A 47-year-old female showed a left ovary mass. Grossly, the cut surface of the tumor was solid and gray-white with intermediate texture. Some areas were spongy and atropurpureus with a soft texture. Microscopically, the tumor cells were arranged into a variety of different structures with visible hemorrhage. Immunochemically, the tumor cells were positive for CD31, ERG, Fli1, D2–40 and vimentin in a strong and diffused manner. CD34 stain showed focal positivity. Epithelial markers (e.g. CK, CK7, CK8/18 and PAX8) were all negative. Negative immunostaining for SMA, S-100, P53 and calretinin also were detected. The proliferative index (Ki-67) was approximately 40%. After surgery, the patient was treated with radiotherapy, targeted therapy and immunotherapy. In the 9-month follow-up, the patient was survival without evidence of disease. The diagnosis of ovarian angiosarcoma required the careful observation of morphology and the reasonable application of immunohistochemistry. Targeted therapy and immunotherapy are the potential directions for the treatment of angiosarcoma.

Imatinib Mesylate in the Treatment of Systemic Mastocytosis, a Phase I/II Trial.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 1516-1516 ◽  
Author(s):  
H.J. Droogendijk ◽  
J.C. Kluin-Nelemans ◽  
P.L.A van Daele
Keyword(s):  
Bone Marrow ◽  
Cell Proliferation ◽  
Mast Cell ◽  
Mast Cells ◽  
Imatinib Mesylate ◽  
Systemic Mastocytosis ◽  
Skin Lesions ◽  
Tissue Response ◽  
Serum Tryptase ◽  
Kit Receptor

Abstract Introduction: mastocytosis comprimes a group of diseases characterized by abnormal proliferation and accumulation of mast cells in one or more organs. A cutaneous and systemic form of mastocytosis is distinguished. Systemic mastocytosis defines the disease process in which mast cell proliferation exceeds the skin. The clinical manifestations of systemic mastocytosis depend on the tissues involved and the tissue response to the accumulation of mast cells. Although in general the disease progresses slowly, it may develop into a malignant disease. Currently there is no cure for systemic mastocytosis. Mast cells develop from pluripotent bone marrow progenitor cells that express CD34 antigen and are dispersed as precursors which undergo proliferation and maturation in different tissues. Normal mast cell development involves the action of stam cell growth factor and c-kit receptors, which are expressed by mast cells at their different developmental stages. Deregulation and/or abnormalities of the c-kit receptor are assumed to play a causal role in disordered mast-cell proliferation. In most patients a mutation in the gene for c-kit exists. One of the mutations is the D816V mutation. Aim of the study:imatinib mesylate, formerly called ST1571, is a potent inhibitor of c-kit receptor tyrosine kinase activity. In this study, we evaluate whether imatinib mesylate is safe and effective in the treatment of patients with systemic mastocytosis. Primary end-points of study are reduction in urinary N-methylhistamine excretion, serum tryptase activity, skin lesions, number of mast cells in sections of bone marrow, hepato-and/or splenomegaly and symptoms.Adverse effects on therapy are also considered. Results: up to now, 10 patients with systemic mastocytosis are treated with 400 mg of imatinib mesylate orally once daily. During the first 2 weeks of the study the patients also received 30 mg of prednisolone daily. In general imatinib mesylate is well tolerated. The first results show a 38–80% reduction in urinary N-methylhistamine excretion and 30–66% reduction in serum tryptase activity. Skin lesions diminish in two of the six patients with cutaneous mastocytosis,. Number of mast cells in sections of bone marrow are reduced in 63% (5/8) of the patients. Hepato-and/or splenomegaly is slightly decreased in two of the three patients with organomegaly. Finally 60 % of all patients experiences relief of symptoms. In eight patients the D816V mutation was found. In contrast with former studies imatinib mesylate is also effective in these patients. Further results are to be awaited. Conclusion: imatinib mesylate is safe and seems effective in the treatment of patients with systemic mastocytosis (including patients with the D816V mutation).

scholarly journals Primary sinonasal renal cell-like adenocarcinoma: a case report and review of the literature

2020 ◽  
Author(s):  
Xiaoxia Gou ◽  
Yanzhe Wang ◽  
Fang Chen ◽  
Xiaoli Liu ◽  
Peigang Ruan ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Renal Cell ◽  
Low Grade ◽  
Cell Renal Cell Carcinoma ◽  
Ki 67 ◽  
Pathological Characteristics ◽  
S 100 ◽  
Clear Cytoplasm ◽  
The Right ◽  
Irregular Mass

Abstract BackgroundPrimary sinonasal renal cell-like adenocarcinoma (SNRCLA) is an extremely rare neoplasm with unique clinical and pathological features. At present, there is no summary of its clinical and pathological characteristics. We treated one case and reported to here. Review the domestic and foreign literature, summarize its clinical pathological characteristics and diagnosis and treatment.CaseA 69-year-old female presented with repeated epistaxis, nasal obstruction of 2-years’ duration. Computed tomography (CT) was performed revealing an irregular mass of the right nasal cavity involving choana and nasopharynx. The patient was treated with endonasal endoscopic resection. Histologically, SNRCLA was very similar to clear cell renal cell carcinoma (RCC), the tumor cells were round or polygonal in size with abundant clear cytoplasm and uniform nuclei. The tumor cells positive for CK7, Vimentin, EMA, S-100, Ki-67 (5% +) and negative for CEA, P53, P63 by immunohistochemical staining,. The patient is free from recurrence over 27 months after the surgery.ConclusionSNRCLA seems to be a low-grade localized carcinoma associated with favorable prognosis. Surgical resection is recommended as the main stay of treatment.

scholarly journals Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process

2019 ◽  
Vol 12 (8) ◽  
pp. e229967 ◽  
Author(s):  
Susanna Nallamilli ◽  
Aideen O’Neill ◽  
Andrew Wilson ◽  
Mallika Sekhar ◽  
Jonathan Lambert
Keyword(s):  
Quality Of Life ◽  
Bone Marrow ◽  
Cell Clone ◽  
Systemic Mastocytosis ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Diagnostic Process ◽  
Histamine Antagonists ◽  
History Of

Systemic mastocytosis results from proliferation and activation of an abnormal mast cell clone. It is a heterogeneous disorder with clinical manifestations ranging from skin lesions alone to aggressive multi-organ infiltration and decreased survival. Given these varied manifestations, diagnosis can be difficult. We describe the case of a woman who presented with rash and diarrhoea and had a history of anaphylactic reactions. Over a protracted period, the patient’s symptoms were investigated by a number of specialties including gastroenterology, dermatology, immunology and haematology. Morphological, immunohistochemical and molecular analysis of bone marrow samples ultimately led to a diagnosis of systemic mastocytosis. Management with leukotriene and histamine antagonists resulted in significant improvement in symptoms and quality of life. The case serves to highlight the protean manifestations of systemic mastocytosis, the tests available to diagnose it and the agents available to treat it.

NUCLEAR LOCALIZATION OF CRABP1 IN NEUROENDOCRINE LUNG TUMORS IS ASSOCIATED WITH THE DEGREE OF TUMOR MALIGNANCY

2017 ◽  
Vol 63 (6) ◽  
pp. 886-893
Author(s):  
Vera Delektorskaya ◽  
Andrey Komelkov ◽  
Irina Zborovskaya ◽  
Yelena Chevkina ◽  
A. Yenikeev ◽  
...  
Keyword(s):  
Nuclear Localization ◽  
Clinical Manifestations ◽  
Tumor Grade ◽  
Large Cell ◽  
Biological Behavior ◽  
Proliferation Index ◽  
Ki 67 ◽  
Disease Prognosis ◽  
Neuroendocrine Lung Tumors ◽  
Relationship Of

Bronchopulmonary neuroendocrine tumors (NETs) refer to malignant epithelial neoplasms of neuroendocrine origin, which form highly heterogeneous group with respect to biological behavior and clinical manifestations. Three main categories of different grades of malignancy are distinguished in the diagnosis of lung NETs: typical carcinoids (TK), atypical carcinoids (AK) and the most aggressive low-differentiated tumors including small-cell and large-cell neuroendocrine lung carcinomas. These groups differ in terms of disease prognosis and therapeutic approaches, but the criteria currently used do not always allow clear boundaries between different histological variants. The search for additional diagnostic parameters and individual prognosis markers is currently actual for the grading and optimal classification of NETs. For the first time we studied the expression of Retinoic Acid Binding Protein-1 (CRABP1) in different variants of lung NETs. IHC analysis of 43 samples of lung NETs with various degrees of differentiation and grades revealed the statistically significant correlation between nuclear localization of CRABP1 and proliferation index «Ki-67» and tumor grade. The results pointed on the involvement of CRABP1 in the pathogenesis of lung NETs and indicated the need for further investigation of the relationship of the nuclear CRABP1 with clinical parameters and patient survival to determine whether this protein can be used as a marker for differential diagnosis and/or disease prognosis.

Clinical, Biological, and Molecular Characteristics of Well-Differentiated Systemic Mastocytosis: a study in 18 Patients by Spanish Network on Mastocytosis (REMA)

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5246-5246
Author(s):  
Iván Alvarez-Twose ◽  
Laura Sánchez-Muñoz ◽  
María Jara-Acevedo ◽  
Cristina Teodosio ◽  
Andrés García-Montero ◽  
...  
Keyword(s):  
Mast Cell ◽  
Mast Cells ◽  
Systemic Mastocytosis ◽  
Skin Lesions ◽  
Categorical Variables ◽  
Molecular Characteristics ◽  
Skin Involvement ◽  
Serum Tryptase ◽  
Kit Mutation ◽  
Well Differentiated

Abstract BACKGROUND: Well-differentiated systemic mastocytosis (WDSM) has recently been described as a novel form of mast cell disease. WDSM is characterized by a marked increase of bone marrow (BM) mast cells, usually with compact aggregates, with normal phenotype and morphology as well as the absence of the typical D816V somatic KIT mutation. OBJECTIVE: To describe and compare clinical, morphological, biological and molecular characteristics in a group of 18 patients who fullfilled criteria for WDSM with a group of 32 patients with indolent systemic mastocytosis (ISM). PATIENTS AND METHODS: All the patients were diagnosed on the basis of BM aspirate and biopsy findings after they were thought to have a systemic mastocytosis. A rigorous skin examination together with a clinical work-up and a complete laboratory analysis including peripheral blood count, routine biochemistry and serum tryptase levels were performed. The Mann-Whitney U and the chi-square tests were used to assess the statistical differences of continuous and categorical variables, respectively. RESULTS: WDSM patients were 4 males and 14 females with a median (range) age of 24 years (2–72) at diagnosis. Median (range) age at the time of the first observation of skin lesions was 2 years (0–41). In 16 of the 18 patients (89%), skin lesions appeared under the age of 14, five of them being younger than 1 year old. All the WDSM patients had skin involvement but the typical maculo-papular lesions were found only in 18% of patients while in the remaining 82% of cases, cutaneous lesions were plaques or nodules. Interestingly, 78% of WDSM patients had cutaneous neck involvement in contrast with only 13% in the ISM group (p&lt;0.001). There were no significant differences in mast cell mediators-related symptoms such as pruritus, flushing, abdominal pain or diahrrea between the two groups while anaphylactic reactions were significantly more frequent in the WDSM group than in the ISM group (59% vs 19%, p=0.004). Overall, bone loss was found in 38% and 37% of WDSM and ISM patients, respectively. Among all the biochemical parameters analyzed, only median serum cholesterol (mg/dL), ferritin (ng/mL) and tryptase levels (ng/mL) were significantly lower in patients with WDSM when compared to ISM patients (150 vs 168.5, p=0.043; 31.3 vs 56.6, p=0.004; 11 vs 31.6, p&lt;0.001; respectively). There were no significant differences in the median percentage of mast cells in the BM study as assesed by flow cytometry between both groups (0.055% in WDSM group and 0.08% in ISM group). In contrast, the presence of both fibrosis and lymphoid aggregates in the BM biopsy were more frequent in patients with ISM than in patients with WDSM (52% vs 0%, p&lt;0.001; 55% vs 14%, p=0.01; respectively). Somatic KIT mutation at codon 816 was found in 31 of the 32 ISM patients (97%) while only in one (6%) WDSM patient (p&lt;0.001). Additionally, 2 WDSM patients were found to carry variant mutations at codons other than at codon 816 (N819Y and I817V, respectively). From the remaining 15 WDSM patients, clonality of mast cell population was demonstrated by human androgen receptor (HUMARA) assay in the 5 female patients in whom the assay was made. CONCLUSIONS: WDSM is a variant of systemic mastocytosis with several characteristics that are distinguishable from ISM, such as: early onset of skin lesions, atypical skin involvement (plaques or nodules and cutaneous neck involvement), frequent anaphylactic episodes, lower serum tryptase levels than ISM despite no differences in BM mast cell infiltration, and infrequent detection of typical activating D816V KIT mutation.

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