scholarly journals A Rare Tumor with a Very Rare Initial Presentation: Thymic Carcinoma as Bone Marrow Metastasis

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Sonam Sharma ◽  
Leelavathi Dawson

Tumors of thymus gland are rare and account for 0.2% to 1.5% of all the neoplasms. They constitute a heterogeneous group that has an unknown etiology and a complex as well as varied biology. This has led to difficulty in their histological classification and in predicting their prognostic and survival markers. Among them, thymic carcinoma is the most aggressive thymic epithelial tumor exhibiting cytological malignant features and a diversity of clinicopathological characteristics that can cause diagnostic dilemmas, misdiagnosis, and therapeutic challenge. We herein describe a case of a 60-year-old man who while undergoing evaluation for the cause of pancytopenia was discovered having bone marrow metastasis from an asymptomatic thymic carcinoma. Bone marrow metastasis is an extremely rare initial presentation of thymic carcinoma with only few cases reported in the literature.

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 18049-18049
Author(s):  
K. Yoh ◽  
Y. Nishiwaki ◽  
G. Ishii ◽  
K. Goto ◽  
K. Kubota ◽  
...  

18049 Background: Thymic epithelial tumor has been reported to express the epidermal growth factor receptor (EGFR), and thymic carcinoma has recently been described to have overexpression of KIT. We investigated the prevalence of EGFR and KIT mutations in patients with thymoma and thymic carcinoma to explore the potential for a targeted therapy with tyrosine kinase inhibitors. Methods: Genomic DNA was isolated from 41 paraffin-embedded tumor samples including 24 thymoma and 17 thymic carcinoma. EGFR mutations in exons 18, 19 and 21, and KIT mutations in exons 9, 11, 13 and 17, were analyzed by PCR and direct sequencing. Protein expressions of EGFR and KIT were also evaluated by immunohistochemistry. Results: We detected the EGFR mutation in 2 of 20 thymoma, but none of thymic carcinoma had mutation. All of the detected EGFR mutations were missense mutations in exon 21 (L858R and G863D, respectively). Expression of EGFR was seen in 71% of thymoma and 53% of thymic carcinoma. On mutational analysis of KIT, only one thymic carcinoma displayed a missense mutation in exon 11 (L576P). Expression of KIT was observed in 88% of thymic carcinoma and 0% of thymoma. Conclusions: Our findings indicate that a small number of patients with thymic epithelial tumor exhibit somatic mutations of EGFR or KIT although expressions of EGFR or KIT are present frequently in thymic epithelial tumor. Further investigations are warranted to determine their susceptibility to tyrosine kinase inhibitors in the treatment of thymoma and thymic carcinoma with EGFR or KIT mutations. No significant financial relationships to disclose.


Breast Care ◽  
2018 ◽  
Vol 13 (2) ◽  
pp. 133-136 ◽  
Author(s):  
Yu-Wei Deng ◽  
Yi-Wen Li ◽  
Wen-Jing Hao ◽  
Dan Lu

Background: Thymic carcinoma is prone to early metastasis and invasion, while its metastasis to the breast is particularly unique. Case Report: We describe a case of thymic epithelial tumor metastatic to the breast fulfilling clinical diagnostic criteria. A 47-year-old female patient diagnosed with stage IV thymic carcinoma and previously treated with chemoradiation was diagnosed with metastatic breast cancer during a periodic review. Color Doppler ultrasonography showed a low-echo real occupancy in the breast. Pathological examination of the breast mass confirmed the diagnosis of thymic carcinoma metastasis. Conclusion: Hematogenous metastasis of thymic carcinoma to the breast is rare but not exceptional, and long-term survival can be expected with appropriate treatment.


2021 ◽  
Vol 116 (1) ◽  
pp. S837-S837
Author(s):  
Isaac S. Cho ◽  
Adrian Lugo ◽  
Jaydip B. Patel ◽  
Ahad Waraich ◽  
Swetha Chenna ◽  
...  

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Frank S. Fan ◽  
Chung-Fan Yang ◽  
Yi-Fen Wang

Introduction. Breast cancer is one of the malignancies which tend to involve the bone marrow, but initial presentation with diffuse bone marrow metastasis from an occult breast cancer is very rare. Prognosis is generally very poor for marrow metastasis from solid tumors except that breast cancer is a treatable disease even in such a dismal condition. Case. A 64-year-old woman’s headache was found to result from diffuse adenocarcinoma metastasis in the bone marrow from an unknown primary site. Intensive immunohistochemistry study of bone marrow biopsy specimen confirmed the disease nature to be an estrogen receptor-positive/human epidermal growth factor receptor 2-negative breast cancer. Mammography and magnetic resonance imaging of breasts revealed a suspicious primary lesion in the right breast. Treatment with tamoxifen alone achieved a sustained response. Discussion. Mucin 1 (MUC1), also known as cancer antigen 15-3 (CA 15-3), facilitates motility and metastatic potential of breast cancer cells. Interleukin-1β (IL-1β) drives breast cancer cell growth and colonization in bone marrow adipose tissue niche. Receptor activator of nuclear factor kappa-B (RANK) and its ligand (RANKL) activate osteoclasts to make a favorable bone marrow microenvironment for tumor cells. Agents against MUC1, IL-1β, and RANKL might be of therapeutic effect for patients like ours.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Chao-Chun Chang ◽  
Chia-Ying Lin ◽  
Chang-Yao Chu ◽  
Yi-Cheng Hsiung ◽  
Ming-Tsung Chuang ◽  
...  

Abstract Background Recent advance in tissue characterization with parametric mapping imaging has the potential to be a novel biomarker for histopathologic correlation with thymic epithelial tumors (TETs). The purpose of our study is to evaluate MRI T1 mapping with the calculation of extracellular volume (ECV) fraction for histologic correlation with thymic epithelial tumor based on lymphocyte abundance. Methods A retrospective study including 31 consecutive patients (14 men and 17 women, median age, 56 years; interquartile range, 12 years) with TETs was performed. The T1 values and ECV were assessed by using quantitative MRI mapping techniques. Mann-Whitney U test, Kruskal-Wallis H test, and receiver operating characteristic curve analyses were used to assess discrimination between different types of TETs based on lymphocyte abundance. Results Extracellular volume was significantly higher in TETs with sparse lymphocyte, including type A, type B3, and thymic carcinoma, compared with those with abundant lymphocyte, including type B1, B2, and AB thymomas (42.5% vs 26.9%, respectively; p < 0.001). Extracellular volume was significantly higher in thymic carcinoma compared with low grade and high grade thymomas (48.6% vs 31.1% vs 27.6%, respectively; p = 0.002). Conclusions T1 mapping with the calculation of extracellular volume (ECV) fraction correlate with the WHO histologic classification of thymic epithelial tumor based on lymphocyte abundance.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Cheng Huang ◽  
Binglin Jian ◽  
Yan Su ◽  
Na Xu ◽  
Tong Yu ◽  
...  

Abstract Background The aim of this study was to summarize the clinical characteristics, therapeutic effects and prognosis of patients with rhabdomyosarcoma (RMS) and bone marrow metastasis, improve the understanding of this disease. Method This was a single-institution retrospective study involving the children with RMS, who presented with bone marrow metastasis at initial presentation to our hospital between 1st, Jan, 2006 and 31st, Dec,2019. Follow-up concluded on 31st, Dec, 2020 and the clinical data were collected and analysed. Result Between 1st Jan 2006 and 31st Dec 2019, 13 eligible patients presented to our hospital, including 10 males and 3 females, these eligible patients accounted for 4.5% of all RMS patients. The median age at onset was 5.6 years (range 1.7-14 years). The patients not only had unfavourable primary sites, but also had multiple metastases. The bone marrow aspirate samples of the patients comprised 8-95% blast-like cells. Nine of 13 patients were misdiagnosed with haematological malignancies or other solid tumours. With respect to histology, four of 13 children were classified as embryonal RMS and nine as alveolar RMS. Eleven patients underwent PAX-FOXO1 fusion testing; eight had the POX- FOXO1 fusion gene. Immunohistochemically(IHC) analysis revealed that the tumour cells were positive for Desmin, Vimentin, Myo-D1 and Myogenin. More importantly, the patients had extremely poor prognoses, the median EFS was 12.0 months (range 3-28.3 months) and the median OS was 27.0 months (range6-46.2 months). Conclusion This study demonstrates that children with RMS and bone marrow metastasis usually exhibit atypical primary sites and multiple metastases, with presentation mimicking haematological malignancies or other solid tumors at initial presentation. Pathology and IHC analysis combined with POX-FOXO1 fusion gene detections can effectively confirm the diagnosis. These patients are more likely to relapse or progress during early treatment and are prone to intracranial metastasis. While multidisciplinary therapy combined with Temozolomide may prevent it, further prospective research is required to evaluate the therapeutic effects.


2019 ◽  
Vol 37 (24) ◽  
pp. 2162-2170 ◽  
Author(s):  
Jinhyun Cho ◽  
Hae Su Kim ◽  
Bo Mi Ku ◽  
Yoon-La Choi ◽  
Razvan Cristescu ◽  
...  

PURPOSE Limited treatment options exist for patients with thymic epithelial tumor (TET) whose disease progresses after platinum-based chemotherapy. We conducted a phase II study of pembrolizumab in patients with TET to evaluate its efficacy and safety. METHODS Patients with histologically confirmed TET whose disease progressed after at least one line of platinum-based chemotherapy were eligible for the study. Patients were excluded if they had an active autoimmune disease requiring systemic treatment within the past year or documented history of clinically severe autoimmune disease. Patients received 200 mg of pembrolizumab intravenously every 3 weeks until tumor progression or unacceptable toxicity. The primary objective of response rate was assessed every 9 weeks by investigators. RESULTS Of 33 patients enrolled, 26 had thymic carcinoma and seven had thymoma. Of seven thymoma, two (28.6%; 95% CI, 8.2% to 64.1%) had partial response, and five (71.6%) had stable disease. Of 26 thymic carcinoma, five (19.2%; 95% CI, 8.5% to 37.9%) had partial response and 14 (53.8%) had stable disease. The median progression-free survival was 6.1 months for both groups. The most common adverse events of any grade included dyspnea (11; 33.3%), chest wall pain (10; 30.3%), anorexia (seven; 21.2%), and fatigue (seven; 21.2%). Five (71.4%) of seven patients with thymoma and four (15.4%) of 26 patients with thymic carcinoma reported grade ≥ 3 immune-related adverse events, including hepatitis (four; 12.1%), myocarditis (three; 9.1%), myasthenia gravis (two; 6.1%), thyroiditis (one; 3.0%), antineutrophil cytoplasmic antibody–associated rapidly progressive glomerulonephritis (one; 3.0%), colitis (one; 3.0%), and subacute myoclonus (one; 3.0%). CONCLUSIONS Pembrolizumab showed encouraging antitumor activity in patients with advanced TET. Given the high incidence of autoimmunity, additional studies are needed to identify those who can benefit from pembrolizumab without immune-related adverse events.


2019 ◽  
Vol 50 (3) ◽  
pp. 310-317 ◽  
Author(s):  
Hiroaki Kanemura ◽  
Tomohide Tamura ◽  
Naoki Nishimura ◽  
Daiki Kobayashi ◽  
Takahiro Higashi

Abstract Introduction Thymic epithelial tumors are a rare type of neoplasm. Accordingly, it is difficult to perform phase III trials in patients with thymic epithelial tumors, and thus, no standard treatment has been established for these tumors. In this study, we aimed to investigate the current status of thymic epithelial tumor treatment in Japan. Methods This retrospective observational study enrolled patients with thymic epithelial tumor whose data were recorded in a nationwide Hospital-based Cancer Registry that was linked with health insurance claims data for the registered patients between 2012 and 2014. The patients’ treatment details were obtained from a health insurance claims database. Results A total of 813 patients with thymoma and 547 with thymic carcinoma were included in the analysis. Overall, 549 (67.5%) thymoma patients underwent surgical resection alone. Among patients with thymic carcinoma, 230 (42.0%) underwent initial surgery, and 124 (53.9%) received subsequent radiotherapy and chemotherapy. Chemotherapy regimens varied across the hospitals; overall, 21 and 22 regimens were used to treat thymoma and thymic carcinoma, respectively. Platinum-based combination regimens were predominantly selected for both diseases. Conclusions This study revealed the real-world patterns of thymic epithelial tumor treatment in Japan. Although the nature of this study did not enable the determination of optimal treatment strategies, the simultaneous analysis of nationwide registry, insurance, efficacy and prognostic data may contribute to the establishment of a standard treatment strategy for rarely occurring cancers such as thymic epithelial tumor.


2021 ◽  
Vol 22 (11) ◽  
pp. 6082
Author(s):  
Ludmila Lozneanu ◽  
Raluca Anca Balan ◽  
Ioana Păvăleanu ◽  
Simona Eliza Giuşcă ◽  
Irina-Draga Căruntu ◽  
...  

BMI-1 is a key component of stem cells, which are essential for normal organ development and cell phenotype maintenance. BMI-1 expression is deregulated in cancer, resulting in the alteration of chromatin and gene transcription repression. The cellular signaling pathway that governs BMI-1 action in the ovarian carcinogenesis sequences is incompletely deciphered. In this study, we set out to analyze the immunohistochemical (IHC) BMI-1 expression in two different groups: endometriosis-related ovarian carcinoma (EOC) and non-endometriotic ovarian carcinoma (NEOC), aiming to identify the differences in its tissue profile. Methods: BMI-1 IHC expression has been individually quantified in epithelial and in stromal components by using adapted scores systems. Statistical analysis was performed to analyze the relationship between BMI-1 epithelial and stromal profile in each group and between groups and its correlation with classical clinicopathological characteristics. Results: BMI-1 expression in epithelial tumor cells was mostly low or negative in the EOC group, and predominantly positive in the NEOC group. Moreover, the stromal BMI-1 expression was variable in the EOC group, whereas in the NEOC group, stromal BMI-1 expression was mainly strong. We noted statistically significant differences between the epithelial and stromal BMI-1 profiles in each group and between the two ovarian carcinoma (OC) groups. Conclusions: Our study provides solid evidence for a different BMI-1 expression in EOC and NEOC, corresponding to the differences in their etiopathogeny. The reported differences in the BMI-1 expression of EOC and NEOC need to be further validated in a larger and homogenous cohort of study.


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