[A case of sarcomatoid intrahepatic cholangiocarcinoma that was difficult to diagnose].

A 70-year-old man presented to our hospital with fever and abdominal pain. A mass was found in the left lobe of his liver. Three months later, disseminated peritoneal nodules and ascites appeared. Liver biopsy and review laparoscopy did not lead to a diagnosis. Approximately five months later, a pathological autopsy was performed, and a final diagnosis of sarcomatoid intrahepatic cholangiocarcinoma was made. Differentiating sarcomatoid cholangiocarcinoma from sarcomatoid malignant peritoneal mesothelioma was difficult due to the similarity of clinical and pathological findings. Because the two diseases are treated differently, being able to differentiate them is a challenge in the future.

[A case of pustular psoriasis preceded by liver dysfunction].

The patient is a female in her thirties. The patient was diagnosed with pustular psoriasis during the treatment course for pneumonia with the appearance of small pustules of the skin and with an increase of serum total bilirubin level. Pustular psoriasis is a designated intractable disease with extremely low prevalence in which the skin of the whole body is flushed with high fever and many sterile pustules occur. This disease has been reported to be accompanied by liver dysfunction. Liver dysfunction appeared 1-2 weeks after the eruption appears in most cases, but this is the rare case in which the liver disorder precedes.

Rapidly and Slowly Growing Lineages in Chromosomal Instability-Type Gland-Forming Gastric Carcinomas as Revealed by Multisampling Analysis of DNA Copy-Number Profile.

BACKGROUND: To examine whether gastric carcinoma (GC) with chromosomal instability (CIN-type GC), the largest category in the Cancer Genome Atlas classification, consists of a single genetic lineage, we conducted a multisampling analysis of genomic DNA copy-number profile. METHODS: We performed array-based comparative genomic hybridization using formalin-fixed paraffin-embedded tissues from 54 gland-forming GCs containing a total of 106 DNA samples from mucosal, extramucosal invasive, and lymph node lesions. Microarray data were analyzed by unsupervised hierarchical clustering and penetrance plots. Epstein-Barr virus infection status and mismatch repair (MMR) enzyme-silencing/p53/mucin expression were examined by in situ hybridization and immunohistochemistry, respectively. RESULTS: The samples examined were divided into gain-rich cluster A and loss-rich cluster B, which were different in tumor locus and patient age. The T1/T2-4 ratio, the frequency of small cancers (diameter ≤2-4 cm), and intestinal mucin expression were higher in cluster B than in cluster A, but there were no significant differences in the frequencies of MMR silencing, mutant p53 pattern, and lymph node metastasis between the 2 clusters. CONCLUSIONS: We demonstrated that CIN-type GC could be categorized into 2 genetic lineages which are different in terms of rapidity of local extension but similar in terms of nodal metastasis risk.

Immunoglobulin G4-related sclerosing cholangitis diagnosed by liver biopsy: a case report.

Patients with immunoglobulin (Ig) G4-related sclerosing cholangitis typically have a high serum IgG4 level. However, here we describe our experience of a patient with a normal serum IgG4 level for whom the cholangitis was diagnosed by liver biopsy. A 61-year-old male presented with elevated liver enzymes and a normal serum IgG4 level. The hilar, intrahepatic, and upper extrahepatic bile ducts were stenotic, with no evidence of a pancreatic lesion. We therefore performed a liver biopsy to differentiate between cholangiocarcinoma and primary sclerosing cholangitis. Pathological examination revealed lymphoplasmacytic infiltrates around the bile ducts with a storiform fibrosis. IgG4-positive plasma cells were also observed. These results fulfilled the Japanese diagnostic criteria for IgG4-related sclerosing cholangitis. When this condition is suspected, liver biopsy should be performed even when serum IgG4 levels are normal.

Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer.

Adenoid cystic carcinoma of the breast is a rare histological type of triple-negative breast cancer with an indolent clinical behavior, often driven by the MYB-NFIB fusion gene. Here we sought to define the repertoire of somatic genetic alterations in two adenoid cystic carcinomas associated with high-grade triple-negative breast cancer. The different components of each case were subjected to copy number profiling and massively parallel sequencing targeting all exons and selected regulatory and intronic regions of 488 genes. Reverse transcription PCR and fluorescence in situ hybridization were employed to investigate the presence of the MYB-NFIB translocation. The MYB-NFIB fusion gene was detected in both adenoid cystic carcinomas and their associated high-grade triple-negative breast cancer components. Although the distinct components of both cases displayed similar patterns of gene copy number alterations, massively parallel sequencing analysis revealed intratumor genetic heterogeneity. In case 1, progression from the trabecular adenoid cystic carcinoma to the high-grade triple-negative breast cancer was found to involve clonal shifts with enrichment of mutations affecting EP300, NOTCH1, ERBB2 and FGFR1 in the high-grade triple-negative breast cancer. In case 2, a clonal KMT2C mutation was present in the cribriform adenoid cystic carcinoma, solid adenoid cystic carcinoma and high-grade triple-negative breast cancer components, whereas a mutation affecting MYB was present only in the solid and high-grade triple-negative breast cancer areas and additional three mutations targeting STAG2, KDM6A and CDK12 were restricted to the high-grade triple-negative breast cancer. In conclusion, adenoid cystic carcinomas of the breast with high-grade transformation are underpinned by the MYB-NFIB fusion gene and, akin to other forms of cancer, may be constituted by a mosaic of cancer cell clones at diagnosis. The progression from adenoid cystic carcinoma to high-grade triple-negative breast cancer of no special type may involve the selection of neoplastic clones and/or the acquisition of additional genetic alterations.

Laparoscopic Partial Splenectomy May Be Valuable for the Diagnosis of Malignant Lymphoma: A Case Report.

Background/Aim: Diagnosing primary splenic malignant lymphoma (PSML) is challenging due to the non-specific nature of splenomegaly, necessitating splenic biopsy for confirmation. However, performing partial splenic resection for diagnostic purposes is an elective procedure due to the risk of major hemorrhage. Despite the longstanding practice of splenectomy over the past few decades, it remains invasive and may result in severe early or late complications. Hence, we present laparoscopic partial splenectomy (LPS) in a patient suspicious of PSML for diagnostic purposes in this study. Case Report: An 81-year-old woman presented to our hospital with a one-month history of fever and dry cough. Atypical cells had been detected in her peripheral blood nine months ago. However, at that time, a bone marrow examination did not reveal any atypical cells. The laboratory tests revealed a soluble interleukin receptor-2 levels of 4,667 U/dl and atypical cells were also found in peripheral blood. Abdominal computed tomography showed splenomegaly without any other relevant findings. These findings are suspicious of PSML and LPS without vessel ligation was performed and a small fraction of the spleen from the inferior pole measuring 1.8×1.0 cm was resected. The operation lasted for 63 min with minimal estimated blood loss. Histopathological findings were compatible with the diagnosis of diffuse B-cell lymphoma. The postoperative clinical course was uneventful, and splenomegaly demonstrated improvement six months after the operation. Conclusion: LPS without vessel ligation for biopsy may be valuable for the diagnosis of malignant lymphoma, particularly when there are no swollen lymph nodes, as it offers a less invasive approach.

An unusual presentation of usual-type endocervical adenocarcinoma with lobular endocervical glandular hyperplasia: A case report.

Uterine cervical hematoma is rare. A 51-year-old woman underwent pelvic magnetic resonance imaging (MRI) for uterine tumor survey. A large hematoma with cystic and solid lesions was observed in the uterine cervix. Follow-up MRI after 5 days revealed that the hematoma had decreased in volume. Pathological examination after surgery suggested there was usual-type endocervical adenocarcinoma (UEA) in the lower cervix and lobular endocervical glandular hyperplasia (LEGH) in the upper cervix, along with the cervical hematoma. The findings of this case suggest that the uterine cervical hematoma was secondary to either UEA or LEGH.

Granulocyte and Monocyte Adsorptive Apheresis for Ulcerative Colitis in a Patient with Low Bone Mineral Density Due to Fanconi-Bickel Syndrome.

Systemic steroid is required for the exacerbation of ulcerative colitis (UC), although its administration should be avoided in patients with a low bone mineral density (BMD) exacerbated by side effects of steroids. We herein report the successful induction of remission in an UC case with a low BMD due to Fanconi-Bickel syndrome-or glycogen storage disease type XI-using granulocyte and monocyte adsorptive apheresis (GMA). For a 43-year-old woman with a BMD of 50% the young adult mean, GMA was performed 2 times a week for a total of 10 times. GMA might be a steroid-free treatment option for UC patients with a low BMD.

The therapeutic strategy for advanced gastric cancer with pyloric stenosis and liver metastasis; successfully treated by gastro-jejunal bypass and chemotherapy first, followed by curative R0 resection.

BACKGROUND: The indication of surgical resection for liver metastasis from gastric cancer (GC) is still limited and controversial because of its more aggressive oncological characteristics than liver metastasis from colorectal cancer. Pyloric stenosis causes an inadequate oral intake and malnutrition in GC patients. We herein report a case of GC with these two factors that was successfully treated by the combination of gastro-jejunal bypass and chemotherapy, followed by curative R0 resection. CASE PRESENTATION: A 60-year-old man was diagnosed with type 2 GC with liver metastasis and pyloric stenosis, which was confirmed as the HER2-positive type. He underwent gastrojejunostomy and received capecitabine and cisplatin (XP) + trastuzumab chemotherapy. After three courses of the XP + trastuzumab regimen, shrinkage of the primary lesion and liver metastasis was confirmed and his nutritional parameters markedly improved with a stable oral intake after bypass surgery. He underwent curative R0 resection by distal gastrectomy with D2 lymphadenectomy and partial hepatectomy. Histologically, viable tumor cells were observed in less than one-third of the primary lesion, and only scar tissue without viable cancer cells was noted in the resected liver specimen. His postoperative course was uneventful, and recurrence has not been detected in the 30 months after surgery without adjuvant chemotherapy. CONCLUSION: The present case report describes a successful strategy for advanced GC with pyloric stenosis and liver metastasis.

Cytologic diagnosis of central neurocytoma in intraoperative squash preparations: a report of 2 cases.

BACKGROUND: Central neurocytoma is a rare central nervous system tumor typically found in the lateral ventricles and at the spectrum pellucidum. Two patients with central neurocytoma underwent intraoperative frozen section diagnoses, and the cytologic evaluations are described. CASES: Case 1 was a 21-year-old female who complained about reduced visual acuity. Magnetic resonance imaging (MRI) showed enhancement of a ventricular tumor. Over 80% of the tumor was removed, but after 14 months' follow-up, the disease progressed and regrowth occurred. The patient had a second tumor resection with gamma knife surgery. Case 2 was a 30-year-old female who presented with headaches. An MRI showed an enhancement of a ventricular tumor, and complete tumor removal was achieved. Cellular samples of both cases typically revealed ill-defined cytoplarm, oval nuclei with finely granular chromatin and micronucleoli. A fibrillose matrix in the background was noted. A typical appearance of perinuclear halo was also recognized. In both cases histopathologic examination was consistent with a central neurocytoma. Immunohistochemistry of both tumors was synaptophysin(+), NSE (+), NeuN(+), GFAP(-), but MIB-1 labeling index was 3.4% in case 1 and 1.1% in case 2. CONCLUSION: These are 2 illustrative cases in which the authors report cytologic evaluation of central neurocytomna in intraoperative preparations. These tumors possess distinct cellular features that help with the intraoperative distinction from other intraventricular tumors. Moreover, it should be emphasized that immunostains for neural markers are essential for distinguishing them from other clear cell tumors of the brain, especially oligodendroglioma and clear cell ependymomal neoplasm. A combination of imaging, cytomorphology and immunohistochemical features of central neurocytoma can help to differentiate this condition from other intraventricular tumors. It is thought that careful scrutiny of intraoperative preparations allows one to make a distinction.

Unusual Clinical Sequelae of Kawasaki Disease-Symptomatic Extracranial Internal Carotid Stenosis in Young Adult.

BACKGROUND: Kawasaki disease (KD) is an acute systemic vasculitis that primarily affects the coronary artery, but it does not commonly affect the carotid artery. Cerebral infarction (CI) with internal carotid artery stenosis (ICS) in patients with KD has not been reported until now. We report a patient with CI as a remote-phase complication of KD. CASE PRESENTATION: A 32-year-old man presented with impaired consciousness. Magnetic resonance imaging and digital subtraction angiography confirmed CI and ICS. He successfully underwent carotid endarterectomy. The resected plaque had pathologic findings of KD, which suggested that the internal carotid artery suffered from chronic inflammation. CONCLUSION: KD in childhood may cause symptomatic ICS as a sequela of a remote phase.

Myoepithelial cells in solid variant of intraductal papillary carcinoma of the breast: a potential diagnostic pitfall and a proposal of an immunohistochemical panel in the differential diagnosis with intraductal papilloma with usual ductal hyperplasia.

We examined myoepithelial status in intraductal papillary carcinoma (IPC) along with the expression of high-molecular weight cytokeratin (HMWK) and neuroendocrine markers, with special reference to the differential diagnosis of solid intraductal papillary carcinoma(SIPC) and intraductal papilloma with usual ductal hyperplasia (IP-UDH). Twenty-six (93%) of the twenty-eight intraductal papillomas (IP) had myoepithelial cells in >70% of the epithelial-stromal interface of the intraluminal proliferating component. Six (29%) of twenty-one SIPC had almost complete myoepithelial layer like IP-UDH at the epithelial-stromal interface. HMWK (34 beta E-12) was diffusely positive in 14 (93%) of 15 IP-UDH, but 16 (76%) of 21 SIPC were completely negative for HMWK. Neuroendocrine markers were positive in 14 (67%) of SIPC, but all 28 IPs were completely negative. If only the presence of myoepithelial cells is emphasized as a benign hallmark, about 30% of SIPCs may be underdiagnosed as IP-UDH. However, by using a combination of myoepithelial markers, HMWK, and neuroendocrine markers, all of the 36 solid intraductal papillary lesions were properly classified as benign and malignant. Solid intraductal papillary lesions meeting at least two of the following criteria are highly likely to be malignant: (1) absence of myoepithelial cells(<10% of epithelial-stromal interface of intraluminal proliferating component), (2) negative HMWK(<10%), (3) positive neuroendocrine markers (>10%).

Langerhans cell histiocytosis of the skull on cytologic squash preparations.

We present a case in which a primary cytodiagnosis of Langerhans cell histiocytosis (LCH) of the skull was made using squash preparations. The patient, a 25-year-old male, presented with raised intracranial pressure and decreased visual acuity. Magnetic resonance imaging revealed a large skull lesion with osteolytic features in the left frontal bone. The patient underwent surgical resection by the extended basal frontal epidural approach. The squash preparation smears were cellular and demonstrated a mixed population of small, mature lymphocytes, eosinophils, and a high histiocytes content. The histiocytes occurred as isolated or loosely cohesive and clustered. They possessed abundant cytoplasm with rounded cell shape and had characteristic nuclear features, composed of fine chromatin and delicate nuclear membranes. The cytologic features of these histiocytes were consistent with Langerhans cells (LCs). A final impression of LCH of the skull was rendered. Subsequent histopathology confirmed the diagnosis. LCs reacted with both S-100 protein and CD1a immunohistochemically. The demonstration of Birbeck granules on electron microscopic study was also noted. Whenever squash preparation yields a mixed population of mature lymphocytes, eosinophils, and histiocytes, the cytologists should be aware of and consider LCH as a diagnostic possibility.

Cytologic diagnosis of brain metastasis from hepatocellular carcinoma by squash preparation.

Hepatocellular carcinoma (HCC) metastasizes to the brain is rare instances. In published series and case reports of metastatic HCC, diagnosis of central nervous system metastases has been determined by histologic methods. We present a case of metastatic HCC of brain diagnosed by squash cytologic preparation. A 69-year-old male, HCV positive, suffering from post-hepatitic cirrhosis, initially diagnosed at age 68 with HCC presented with headaches of increasing frequency and severity. A computed tomography scan confirmed a 3-cm nodule in the right parietal lobe of the brain. Squash cytology was performed intraoperatively and preparations of a small tissue fragment resected from the mass showed medium-to-large-sized, well-cohesive clusters or sheets of uniform tumor cells. The tumor cells are highly cellular and contain solitary tumor cells in loose groupings as well as many fragments. They also appear somewhat bizarre and contain large, round, or ovoid nuclei with prominent nucleoli. Cytologic diagnosis of metastatic HCC was rendered reported and confirmed by a subsequent frozen section examination. To the best of our knowledge, this is the first reported case in which HCC was reported as brain metastasis, by using squash cytology. We suggest that intraoperative squash cytologic examination be viewed as a useful initial approach in the diagnosis of metastatic brain tumor.

MALT lymphoma at the base of the tongue developing without any background of immunodeficiency or autoimmune disease.

We report a very rare case of a mucosa-associated lymphoid tissue (MALT) lymphoma of the base of the tongue. A 61-year-old woman was admitted to our hospital for further examination of a 12 mm x 15 mm x 5 mm tongue tumor. Histological examination of the tumor revealed a marked lymphoepithelial lesion. Lymphoma cells expressed CD5(-), CD10(-), CD19(+), CD20(+) on the surface of the cells by fluorescence activated cell sorter, and the genotypic analysis of the tumor cells revealed the presence of immunoglobulin heavy chain rearrangement and the absence of BCL-2 gene rearrangement by southern blot hybridization. Furthermore, neither the t(11;18) (q21;q21) translocation nor trisomy 3 was detected in lymphoma cells by fluorescence in situ hybridization method. The tongue tumor was completely resected and no recurrence has been noted in the 13 months to date.

Hepatic angiomyolipoma associated with splenic hamartoma.

A 52-year-old woman was admitted to our hospital with thrombophlebitis of the internal jugular vein. Abdominal ultrasonography demonstrated a high echogenic mass measuring 4.5 cm in diameter in the liver, and abdominal CT revealed another liver tumor and an isodensity mass in the spleen. Abdominal MRI and angiography were performed and we presumed the tumors to be two hepatic angiomyolipoma and a splenic hamartoma. As an abdominal CT 21 months later revealed that all tumors were growing, these tomors were surgically resected. The histological diagnoses were hepatic angiomyolipoma and splenic hamartoma.

Cytologic diagnosis of endosalpingiosis with pregnant women presenting in peritoneal fluid: a case report.

The cytologic appearance of endosalpingiosis in peritoneal fluid cytology smears has not been extensively described. We report a case of endosalpingiosis in a 29-year-old pregnant female who presented with peritoneal fluid. Dense papillary epithelial clusters with indistinct ciliated cells were found in the Papanicolaou-stained smears. However, long and delicate cilia were obvious in papillary cluster with scanning electron microscopy. Cell nuclei were oval, with finely dispersed chromatin and uniform nuclear membrane. Peritoneal fluid cytology with these findings may be helpful to suggest the probable preoperative diagnosis of endosalpingiosis or benign glandular inclusions involving the pelvic peritoneum.

Cytologic features of the endometrial adenocarcinoma: comparison of ThinPrep and BD SurePath preparations.

We compared the cytoarchitectural features used for the cytologic diagnosis of endometrial adenocarcinoma (EC) using ThinPrep® (TPS = ThinPrep Sample) and BD SurePath™ (SPS = SurePath Sample) preparations. In 20 patients, a direct endometrial sample using the Uterobrush was obtained. Nineteen cases of EA and one case of carcinosarcoma were studied. TPS and SPS were performed according to the manufacturer's recommendations. Moreover, after the TPS preparation, the residual material was also used to prepare an SPS sample (TP-SPS = ThinPrep-Surepath sample). The following points were investigated in both preparations: (1) number of cell clumps; SPS had a significantly higher (20.9) than TPS (1.7) and TP-SPS (10.3); (2) long axis of clumps; SPS had a significantly higher (215.4) than TPS (146.0); (3) rate of cell clumps with longer axes than 200 µm; SPS had a significantly higher (36.7) than TPS (15.2) and TP-SPS (24.2). TP-SPS showed higher values than TPS; (4) nuclear area; TPS had a significant higher (61.2) than SPS (40.8) and TP-SPS (38.6); (5) degree of overlapping nuclei; SPS (3.4) had a significantly higher number of overlapping nuclei than TPS (0.7) and TP-SPS (2.1); (6) nuclear chromatin pattern; no significant differences for the nuclear chromatin pattern were found in the three different methods. The poor performance of TPS versus SPS and TP-SPS was explained with the heavy blood contamination of the samples, and the absence of adhesive coating in the slides is used for TPS. Further investigation of technical differences in liquid-based cytology methodologies is needed.