Ectopic liver in the umbilicus is very rare, and a few cases have been reported in the world. It is thought that an increased intraabdominal pressure resulting in entrapment of liver cell nests causes the presence of liver in the umbilicus. It relates to neonatal problem such as infection. We report a case of ectopic umbilical liver in a stillborn male of 28 gestational weeks. His mother discovered loss of fetal movement 2 days before admission, and intrauterine fetal death was diagnosed by ultrasonography. Grossly, the umbilical cord was markedly swollen. On cut section, a well circumscribed, oval round, tan-colored soft mass was noted within the cord. Histologically, it consisted of hepatic cords without bile ducts. The umbilical vessels were distorted by the ectopic liver, and contained thrombi. These findings suggest that ectopic umbilical liver results in the intrauterine fetal death
Male ; Infant, Newborn ; Humans

Hereditary sensory and autonomic neuropathies (HSAN) are disorders of hereditary neuropathy mainly affecting sensation and also accompanying autonomic nervous system dysfunction. They are divided into five subtypes based on inheritance pattern and clinical manifestation. Among HSAN, type II is characterized by autosomal recessive inheritance, presentation at later stage of life, slow progression and mainly sensation abnormalities. The main pathology of the peripheral nerve is the absence of myelinated nerve fibers. Type IV is very rare disorder and only a few cases have been reported. It is characterized by autosomal recessive inheritance, presentation at birth as failure to thrive, retarded motor development, unexplained pyrexia and rapidly progressive and severe clinical course. The main pathology of the peripheral nerve is a loss of unmyelinated and small myelinated nerve fibers. We report two cases of type IV and one case of type II especially focusing on ultrastructural findings, which are characteristic of and diagnostic for HSAN.
Autonomic Nervous System ; Failure to Thrive ; Fever ; Hereditary Sensory and Autonomic Neuropathies* ; Inheritance Patterns ; Nerve Fibers, Myelinated ; Parturition ; Pathology ; Peripheral Nerves ; Sensation ; Wills

The choroid plexus papilloma is a rare tumor. Its incidence is 0.4-0.6% of all intracranial tumors. Most cases of this tumor are found in the young subject, especially infant and childhood but its congenital form is very rare. The clinical and pathologic findings of congenital choroid plexus papilloma are similar to that of any age. But the cilia on the cell surface are common in the former and very rare in the latter. We present a case of congenital choroid plexus papilloma of the lateral ventricle in a 2 month-old male baby. He had suffered from a sudden onset of convulsions and a drowsy mental state for 2 days. The CT scan revealed a large intraventricular tumor in the left lateral ventricle with hydrocephalus. After ventriculo-peritoneal shunt(V-P shunt), his symptoms were improved. But the hydrocephalus was aggravated due to malfunction of V-P shunt, and he recieved the operation after 4 months. The gross examination revealed a large ovoid papillary tumor(4x3x3cm). On light microscopic examination, the tumor showed papillary structure lined by columnar eosinophilic cells. Some cells had cilia. The electron microscopic finding showed intercellular junction, microvilli and cilia. The tumor cells were positive for cytokeratin, vimentin and S-100 protein.
Infant ; Child ; Male ; Female ; Humans ; Incidence

We report a case of aggressive angiomyxoma in ischiorectal fossa of a 39-year-old women. The tumor is characterized by relatively large size(13 x 11 cm), grossly gelatinous appearance and locally infiltrative nature. Microscopically, it consists of many variable sized blood vessels and spindle or stellate cells widely separated in myxoid or collagenous stroma. Immunohistochemical stains reveal that the tumor cells are strongly positive for actin and desmin. Electron microscopic findings are that of a few cells dispersed in abundant intercellular substance and collagen bundles. These cells form irregular cytoplasmic process without basal lamina and contain endoplasmic reticulum having cistern.
Female ; Humans

BACKGROUND: Smad proteins mediate the cellular signaling from members of transforming growth factor-beta family (TGF-beta s). Smads 2 and 3 transmit signals from TGF-beta and activin, and Smads 1, 5, and 8 transmit signals from the bone morphogenetic protein. Smad4 is known to be a common mediator of both pathways, yet little is known about the expression pattern of Smad proteins in normal lymphoid tissue and malignant lymphoma. METHODS: Immunohistochemistry was performed for Smad3 and Smad4 on the paraffin-embedded tissue sections from 32 cases of diffuse large B-cell lymphomas. RESULTS: In reactive lymphoid tissue, nearly all cells of the germinal centers were positive for Smad3 and more than 50% of paracortical cells were positive for Smad3. For Smad4 immunostaining, nearly all cells of the germinal centers showed diffuse cytoplasmic staining, and most of them revealed nuclear positivity as well. Most of the cells in the paracortex regions were positive for Smad4. For the malignant lymphomas, all the cases were positive for Smad3, but 26 cases were positive for Smad4 and 6 cases (19%) were negative for Smad4. CONCLUSIONS: These results suggest that TGF-beta-specific Smads may be actively involved for signal transduction in lymphoid organs, and the TGF-beta signaling pathway through Smads is operative in malignant lymphoma. The loss of Smad4 expression might be associated with development of some diffuse large B-cell lymphomas.
Activins ; B-Lymphocytes* ; Bone Morphogenetic Proteins ; Cytoplasm ; Germinal Center ; Humans ; Immunohistochemistry ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell* ; Signal Transduction ; Smad Proteins* ; Transforming Growth Factor beta

Nasal angiomyolipomas are exceedingly rare and usually present as small tumors in middle-aged or old men. Their histology is similar to that of the renal counterpart, but they differ in the absence of epithelioid cells, the lack of HMB-45 immunoexpression and no association with tuberous sclerosis. A case of angiomyolipoma occurring in the right nasal cavity was presented in a 44-year-old male patient. The mass was removed by an endoscopic approach. A well-circumscribed, 1.3 cm-sized, ovoid mass was composed of yellowish gray, solid, soft tissue. Histologically, it consisted of bundles of smooth muscles, mature fat cells and thick-walled blood vessels. Nests of seromucous glands were admixed within the mass. Neither epithelioid nor pleomorphic cells were found, and HMB-45-positive cells were not detected. No recurrence has been detected for 2 months after the operation.
Adipocytes ; Adult ; Angiomyolipoma* ; Blood Vessels ; Epithelioid Cells ; Hamartoma ; Humans ; Male ; Muscle, Smooth ; Nasal Cavity* ; Recurrence ; Tuberous Sclerosis

Renal involvement by leukemic cells is rare in chronic myelogenous leukemia (CML). Herein, this study reports a case of CML associated with renal involvement of leukemic cells, which occurred 1 and 1/2 years after the initial diagnosis. Abdomino-pelvic computed tomography revealed a 4.4 x4.2 cm-sized, low-density solid mass having a thick wall from the mid to lower pole of the left kidney. A peripheral blood analysis revealed blastic transformation of CML. The biopsied renal parenchyme was diffusely infiltrated by sheets of immature myeloid cells, polymorphonuclear leukocytes, and occasional eosinophils. Most of the infiltrating cells were positive for anti-neutrophil elastase, but negative for lymphoid markers. Therefore, differential diagnosis of a kidney tumor during the course of CML, especially in the time of blastic transformation, should be performed.
Aged ; Female ; Humans ; Kidney Neoplasms/*pathology ; Leukemia, Myeloid, Chronic/*pathology

Papillary tumor of the temporal bone or middle ear has been recognized as an aggressive neoplasm because of its invasive growth pattern. The site of origin is controversial so that most cases have been reported under various diagnostic terms. Recently, Heffner(1989) suggested that the endolymphatic sac is a possible site of origin, because the tumor resembles the endolymphatic sac in several aspects. We report two such cases. One patient was a 34-year-old female presenting with tinnitus and hearing difficulty for 1 year. Temporal bone CT revealed extensive bone destruction by the tumor which was located in the posterolateral aspect of temporal bone. The other patient was a 56-year-old female who complained of tinnitus, dizziness and otalgia for 2 years. Cranial MR imaging showed an irregularly marginated mass in the left jugular fossa with extension to the petrous bone. Histologically, both cases showed a papillary pattern and locally destructive growth that are typical of papillary tumor of the endolymphatic sac. The papillae were lined by a single layer of bland-looking cuboidal to low columnar cells. Immunohistochemically the lining cells expressed cytokeratin, epithelial membrane antigen, neuron specific antigen and in one case, S-100 protein, supporting the thesis that these neoplasms might be of endolymphatic sac origin.
Female ; Humans

Perineurial cells, which normally surround the nerve fascicles within a nerve, can be distinguished from Schwann cells by their immunoreactivity for epithelial membrane antigen (EMA) and lack of reactivity for S-100 protein. Perineurioma is a form of benign peripheral nerve sheath tumor (PNST) almost exclusively composed of perineurial cells. It is often difficult to differentiate this tumor from the other benign PNSTs or ectopic meningioma by histology alone. Immunohistochemical and electron microscopic studies are helpful for differential diagnosis. We recently experienced a case of soft tissue perineurioma in a 14-year-old girl. This tumor was presented as a 5.6 cm sized subcutaneous movable mass in the elbow. The well encapsulated soft tissue tumor consisted of spindle cells which have whorling and storiform patterns within the collagenous stroma. The spindle cells were stained positive for EMA but negative for S-100 protein, chromogranin, neuron-specific enolase or Leu-7. Ultrastructurally, they possessed long cytoplasmic processes with incomplete basal lamina, primitive intercellular junction and occasional pinocytotic vesicles.
Adolescent ; Basement Membrane ; Collagen ; Cytoplasm ; Diagnosis, Differential ; Elbow ; Female ; Humans ; Immunohistochemistry ; Intercellular Junctions ; Meningioma ; Microscopy, Electron ; Mucin-1 ; Nerve Sheath Neoplasms* ; Peripheral Nerves ; Phosphopyruvate Hydratase ; S100 Proteins ; Schwann Cells

BACKGROUND: Follicular lymphomas present with various immunohistologic patterns. The immunohistochemical markers used in the diagnosis of follicular lymphoma show variable degrees of sensitivity and specificity, and thus, additional germinal center markers are required. Smad1 has been reported to be overexpressed in follicular lymphoma, but little is known regarding the expression patterns of Smad proteins in human lymphoid tissue. METHODS: In the present study, we performed immunohistochemistry for traditional germinal center markers and for Smad1 in human reactive lymphoid and follicular lymphoma tissues to investigate Smad1's usefulness in the diagnosis of follicular lymphoma. RESULTS: In the reactive germinal centers, most cells were positive for Smad1. Among the 27 follicular lymphoma cases, 17 of 21 (80%) were Smad1 positive, 17 of 27 (63%) were positive for CD10, and 23 of 27 (85%) were positive for Bcl6. Notably, three cases expressed CD10 only, and one only expressed Bcl6. All these cases were grade 3 tumors and showed follicular and diffuse growth patterns. CONCLUSIONS: These results indicate that Smad1 is a candidate as a germinal center marker. Furthermore, they suggest that the Smad signaling pathway might be involved in follicular lymphoma.
Diagnosis ; Germinal Center ; Humans ; Immunohistochemistry ; Lymphoid Tissue ; Lymphoma ; Lymphoma, Follicular* ; Sensitivity and Specificity ; Smad Proteins