Paediatric pustulotic arthro-osteitis patient with an IL36RN variant, heterozygous c.115+6T>C, who was successfully treated with tonsillectomy: A case report and literature review.

Pustulotic arthro-osteitis (PAO) is an infrequent condition, with its manifestation in children being even rare. Some reports propose an association between genetic variants and the onset of PAO. Currently, no definitive treatment protocol exists for paediatric patients with PAO. In this study, we present the paediatric case of PAO with an IL36RN variant who was successfully treated with tonsillectomy.

[A Case of Resected Type 4 Rectal Cancer with Difficulty in Preoperative Diagnosis].

We reported a case of Type 4 rectal cancer performed laparoscopic surgery. A 73-year-old man had diarrhea and constipation and underwent colonoscopy. From the first colonoscopy, histological findings of biopsy showed non-neoplastic cells. The results of colonoscopy strongly suggested the possibility of Type 4 rectal cancer. Therefore, we performed colonoscopy twice and he was diagnosed Type 4 rectal cancer. Computed tomography revealed no distant metastasis. He underwent radical laparoscopic surgery. The histopathological diagnosis was pStage Ⅲc(The 9th edition). He then received adjuvant chemotherapy but was relapsed at bones and lymph nodes. He died 18 months later after surgery.

Pancreatic Adenosquamous Carcinoma Discovered Upon a Resection for Neck Tuberculous Lymphadenitis: A Case Report.

Cancer (including pancreatic cancer) can develop following a Mycobacterium tuberculosis infection within one year of tuberculosis infection. However, it is unclear whether tuberculosis infection increases the risk of developing adenosquamous carcinoma of the pancreas (ASCP), an extremely rare cancer with a poorer prognosis than pancreatic ductal adenocarcinoma (PDAC). Herein, we report a case of rapid growing ASCP discovered upon a resection for neck tuberculous lymphadenitis. The patient was a 57-year-old woman. An excisional biopsy of the swollen right neck lymph nodes revealed tuberculous lymphadenitis. One month after the biopsy, an abdominal computed tomography scan showed a 2.0 cm (diameter) ischemic tumor in the pancreatic tail. The tissue obtained using endoscopic ultrasonography-guided fine-needle aspiration led to the pathological diagnosis of ASCP. Two months after the biopsy, the tumor had grown to 3.5 cm (diameter), and invasion of the stomach and colon was suspected. Distal pancreatectomy, splenectomy, partial gastrectomy, and transverse colectomy were performed. The final diagnosis was ASCP (4.7 cm, pT3, pN0, cM0, and pStage IIA). Postoperative adjuvant combination chemotherapy combined with antituberculosis drugs was administered orally. We report the first case of rapidly growing adenosquamous carcinoma resected from the pancreas in association with tuberculous lymphadenitis. Additional evidence is needed to confirm that tuberculosis infection increases the risk of developing pancreatic adenosquamous cell carcinoma because its potential role in promoting squamous metaplasia is unclear.

[Primary adenocarcinoma of the seminal vesicle difficult to differentiate from rectal carcinoma : a case report].

A 78-year-old man with urinary retention visited our hospital in June 2011. He presented with intestinal bleeding one month later and was admitted immediately. Contrast enhancement computed tomography revealed a lobulated intrapelvic tumor and liver metastasis. The prostate specific antigen level was normal, but his carcinoembryonic antigen level was elevated. Based on these results, his tumor was diagnosed as rectal carcinoma. On day 26, total pelvic exenteration and pelvic lymph node dissection to arrest bleeding were performed. We created an ileal conduit for urinary diversion and performed a sigmoid colostomy. The final histopathological assessment confirmed that he had primary adenocarcinoma of the seminal vesicle. The patient received the best supportive care because he rejected postoperative adjuvant chemotherapy and hormonal therapy. He died three months postoperatively. Primary adenocarcinoma of the seminal vesicle is very rare. The prognosis for this carcinoma is poor.

Metastatic Lung Tumors from Colorectal Cancer with EGFR Mutations That Responded to Osimertinib.

A 50-year-old woman who had previously undergone right hemicolectomy and chemotherapy for colorectal cancer was hospitalized with respiratory failure. Chest computed tomography showed reticulonodular opacities and enlarged lymph nodes. A transbronchial biopsy revealed adenocarcinoma with epidermal growth factor receptor (EGFR) mutations T790M and L861Q. Treatment with the EGFR-tyrosine kinase inhibitor (TKI) osimertinib was started, and she achieved a partial response. We diagnosed her with metastatic lung tumors from colorectal cancer based on additional immunohistochemical staining and the EGFR mutation status (L861Q) of the specimens. Although cases with EGFR mutations have been rarely reported, an EGFR-TKI can be an effective treatment option for colorectal cancer.

Candida Pneumonia in a Young Vegan Man with Diabetic Ketoacidosis.

A 39-year-old vegan man was admitted with diabetic ketoacidosis. He had also developed pneumonia that was unresponsive to antibiotics. Based on bronchoscopy findings, the diagnosis of Candida pneumonia was made, and the pulmonary shadow disappeared rapidly after antifungal therapy. Candida pneumonia has been mostly reported in severely immunocompromised patients. This is a rare case of Candida pneumonia that was found in a young vegan man with diabetes mellitus (DM). Although malnutrition caused by DM or an unbalanced diet is often underestimated as a cause of immunodeficiency, these conditions can be risk factors for serious opportunistic infections, including Candida pneumonia.

Intraductal tubulopapillary neoplasm of pancreas with stromal osseous and cartilaginous metaplasia; a case report.

Recently, a surgically resected case of intraductal tubulopapillary neoplasm (ITPN) with stromal osseous and cartilaginous metaplasia was encountered. A CT scan showed calcification at the tail of the pancreas two years before the operation. In the resected specimen, macroscopically, the main pancreatic duct was dilated and filled with a whitish solid mass without mucinous material. The tumor showed mainly a solid and papillary growth pattern. The tumor cells had no evidence of acinar differentiation. The tumor cells, at the tail of the pancreas, invaded focally to surrounding pancreatic parenchyma with stromal desmoplastic and fibrosclerotic reaction and also formed nodular stromal osseous and cartilaginous metaplasia. The tumor did not invade extrapancreatic tissue and showed no lymph node metastasis. As there were no signs of chronic calcifying pancreatitis, it is hypothesized that the metaplastic stroma was formed by a stromal reaction due to the tumor growth. It is thought, therefore, that the intraducal component of the tumor had existed at least for two years. This case suggests that ITPN is a relatively indolent tumor with a better prognosis than that of other types of invasive ductal adenocarcinoma of the pancreas.

Thymofibrolipoma: a case report and review of the literature.

BACKGROUND: Thymofibrolipoma has been described as a variant of thymolipoma. To date, 3 cases have been reported, and the lesion have been described to consist of extensive areas of collagenous tissue interspersed with islands of mature adipose tissue and strands of thymic tissue. CASE PRESENTATION: A 43-year-old woman had an anterior mediastinal tumor. Macroscopically, the cut surface of the tumor was composed of a yellowish lipomatous component and a uniform whitish fibrous component with elastic stiffness. Microscopically, the tumor was composed of collagenous fibrous tissue with sparse spindle cells, mature adipocytes and strands or islands of thymic tissue. The spindle cells in the fibrous tissue had monoallelic deletion of the 13q14 region and corresponding loss of RB1 and FOXO1A protein expression. CONCLUSIONS: This case report may strengthen the hypothesis that thymofibrolipoma is a neoplastic lesion and a variant of thymolipoma and that thymofibrolipoma and lipofibroadenoma are different names for the same lesion. The name "lipofibroadenoma" was given to the lesion because of its histological resemblance to fibroadenoma of the mammary gland. However, this name does not reflect the pathogenesis of this lesion, and the name "thymofibrolipoma" would be preferable. It will be necessary to discuss whether lipofibroadenoma should be listed as an independent entity in the WHO classification.

Inflammatory Thoracic Aortic Aneurysm in a Patient with Advanced Lung Adenocarcinoma Treated with Pembrolizumab.

A 57-year-old man with lung adenocarcinoma was treated with chemotherapy and immune checkpoint blockade. After two cycles of carboplatin, pemetrexed, and pembrolizumab, he developed a persistent fever. Chest computed tomography (CT) suggested inflammation of the aortic wall. We treated the patient with corticosteroids. After four cycles of carboplatin, pemetrexed, and pembrolizumab, chest CT showed an aneurysm in the ascending aorta. We diagnosed him with inflammatory thoracic aortic aneurysm induced by pembrolizumab and performed surgical replacement of the ascending aorta. Although this might be a very rare case, we should be aware of aortitis as a potential adverse effect of pembrolizumab.

FIP1L1-PDGFRA fusion gene in a patient with asthma and rhinitis.

Eosinophilia in asthma or rhinitis is usually considered to be reactive to the allergic diseases. We report a 33-year-old man with asthma and rhinitis, and progressive hypereosinophilia. Fluorescence in situ hybridization analysis detected interstitial chromosomal deletion at 4q12 in cells of the bone marrow. The patient was diagnosed as myeloproliferative neoplasm with a FIP1L1-PDGFRA fusion gene, and successfully treated with the tyrosine kinase inhibitor, imatinib. Clonal expansion of eosinophils due to the FIP1L1-PDGFRA fusion gene could underlie refractory mechanisms in patients with bronchial asthma or allergic rhinitis.

Successful continuous nivolumab therapy for metastatic non-small cell lung cancer after local treatment of oligometastatic lesions.

The patient in this report was a 57-year-old man with metastatic non-small cell lung cancer (NSCLC). After no response to two lines of systemic chemotherapy, he was treated with nivolumab as third-line therapy, which resulted in a partial response. After 17 months of nivolumab treatment, he developed bone metastasis in his left femur which was treated with radiation therapy. Nivolumab was restarted after radiation therapy. Four months after radiation therapy, he developed another metastatic lesion in the small intestine which was surgically resected. Because there were no recurrent NSCLC lesions after surgical resection, nivolumab was restarted again. At 18 months after surgery, there were no recurrent NSCLC lesions. Immunohistochemical analysis of peritumoral T lymphocytes showed higher expression of T cell immunoglobulin and mucin domain-containing protein 3 (TIM-3) and lymphocyte activation gene 3 (LAG-3) in recurrent lesions of bone and small intestine than in primary lesions. Upregulation of TIM-3 and LAG-3 could be associated with mechanisms of adaptive resistance to nivolumab in this case. Here, we report a successful case of continued nivolumab therapy with remission after local treatments consisting of radiation therapy and surgical resection for oligometastases. Continuation of immune checkpoint inhibitor (ICI) treatment may be worth considering if oligometastases can be controlled. KEY POINTS: Significant findings of the study We report a successful case of continued nivolumab treatment with remission after local treatment (radiation therapy and surgical resection) for oligometastases. What this study adds Upregulation of T cell immunoglobulin and mucin domain-containing protein 3 and lymphocyte-activation gene 3 could be associated with mechanisms of adaptive resistance to nivolumab.

Prognostic significance of CD55 expression in breast cancer.

PURPOSE: Our recent study revealed that CD55-high population in breast cancer cell line was resistant to apoptosis and formed colonies in vitro more efficiently than CD55-low population. The present study was conducted to examine whether CD55-high population in breast cancer cell line possesses higher tumorigenic potential in vivo and presence of CD55-high cells in breast cancer affects clinicopathologic behavior of patients. EXPERIMENTAL DESIGN: CD55-high and CD55-low population was sorted from breast cancer cell line, injected into immunodeficient mice, and the resultant tumor volume was measured. CD55 expression was immunohistochemically examined in clinical samples from 74 cases with breast cancers, and cases with >1% of tumor cells showing high level of CD55 expression were categorized as CD55 high. RESULTS: The xenotransplanted tumor volume derived from CD55-high population was significantly larger than that from CD55-low population. Fifty (67.6%) of 74 cases of breast cancer were CD55-high. A significant correlation was observed between CD55-high character and relapse rate (P < 0.001). Univariate analysis showed that tumor size (P = 0.005) and CD55 expression (P = 0.005) were unfavorable prognostic factors. Multivariate analysis revealed that the tumor size (P = 0.013) and CD55 expression (P = 0.011) were independent prognostic factors. CONCLUSIONS: CD55 play an important role in tumorigenesis of breast cancer, and presence of small population of cells with strong CD55 expression would be sufficient to predict poor prognosis of patients.

Epithelioid Rhabdomyosarcoma; a case report with immunohistochemical and molecular study.

Recently, we encountered a biopsy of epithelioid rabdomyosarcoma with lymph node metastasis. A computed tomography (CT) scan showed number of swollen lymph nodes in the left neck and a huge abdominal mass occupying the right kidney. In the lymph node biopsy, tumor cells showed diffuse sheet-like growth reminiscent of carcinoma and melanoma cells with extensive distribution of coagulation necrosis. Tumor cells had abundant amphophilic cytoplasm and clear large nuclei. Most tumor cells showed severe cytologic atypia manifested in prominent nucleoli and pleomorphic nuclei. Tumor cells were focally positive for desmin. Most tumor cells showed expressons for vimentin, BAF47 (INI-1), and myogenin. On reverse transcriptase polymerase chain reaction (RT-PCR) analysis, tumor cells lacked Myo D1 and PAX3/7-FKHR transcripts and showed myogenin transcripts. On cytogenetic (karyotypic) analysis, tumor cells showed highly complex karyotypes. The patient received various regimens of chemotherapy, but 6 months after the biopsy she died with progression of the tumor. Since consent was not obtained, an autopsy was not performed.

Amylase-Producing Lung Cancer with a Positive Epidermal Growth Factor Receptor Mutation Treated With Gefitinib: A Case Report.

A 60-year-old woman was diagnosed with metastatic pulmonary adenocarcinoma (c-stage IV) with an L858R point mutation in the gene encoding epidermal growth factor receptor (EGFR). Serum amylase levels were elevated (1,531 IU/L) with the salivary-type enzyme dominating. First-line chemotherapy using carboplatin plus paclitaxel reduced serum amylase levels, although second-line gefitinib eventually failed to control tumor growth and hyperamylasemia after 4.5 months of treatment. The cancer cells harbored a positive EGFR mutation and secreted amylase. The number of amylase-producing cancer cells and the immunochemical staining intensity for amylase were significantly reduced after gefitinib treatment. This was a rare case of a lung cancer that expressed amylase and harbored a positive EGFR mutation.

Combination of morphological feature analysis and immunohistochemistry is useful for screening of EML4-ALK-positive lung adenocarcinoma.

BACKGROUND: A subset of lung cancers harbours the fusion gene echinoderm microtubule-associated protein-like-4-anaplastic lymphoma kinase (EML4-ALK). Recently, immunohistochemistry for ALK has shown sensitivity for the detection of EML4-ALK-positive lung adenocarcinoma almost equal to that of the fluorescence in situ hybridisation (FISH) assay. AIMS: To study the clinicopathological features of EML4-ALK-positive lung adenocarcinoma in a large number of surgically resected samples using immunohistochemistry, in order to establish a useful screening method for EML4-ALK-positive lung adenocarcinoma. METHODS: Immunohistochemistry for ALK was used to screen for EML4-ALK-positive lung adenocarcinomas in 254 cases of surgically resected samples. RESULTS: EML4-ALK-positive cases were detected in 3.1% of lung adenocarcinomas (8/254). EML4-ALK-positive lung adenocarcinomas showed significant associations with intra- and/or extra-cytoplasmic mucin (p=0.0001), and cribriform pattern with excessive extracytoplasmic mucin (p<0.0001). Signet-ring cell appearance alone lacked significance (p=0.149). CONCLUSION: EML4-ALK-positive lung adenocarcinoma has a tendency to express a characteristic morphological pattern. The combined use of morphological feature analysis and immunohistochemistry may be a useful and cost effective screening method for EML4-ALK lung adenocarcinoma.