Journal of Pathology and Translational Medicine

Case Study

Primary Myxoid Leiomyoma of the Liver: Hee Seung Choi, Chang Won Jung, Soo Youn Cho, Sang Bum Kim, Sunhoo Park; Korean J Pathol. 2014;48(1):54-57. Published online February 25, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.1.54

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Herein, we report a case of primary myxoid leiomyoma of the liver. A 60-year-old woman complained of upper abdominal fullness. Computed tomography showed a solid tumor (8 cm) in the liver. The patient underwent right hepatectomy and histological findings from the resected specimen revealed scattered bland spindle cells in a background of exuberant myxoid material. The tumor cells were immunoreactive for smooth muscle actin and desmin. No other lesions were found elsewhere in the body. Thus, the tumor was diagnosed as a primary myxoid leiomyoma of the liver.

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Hepatic Myxoid Leiomyoma: A Very Rare Tumor
João Fraga, Rui Caetano Oliveira, Luigi Terracciano, Mário Rui Silva, Maria Augusta Cipriano
GE - Portuguese Journal of Gastroenterology.2020; 27(5): 352. CrossRef
A Firm Hepatic Mass Cannot Be Penetrated by US-Guided Needle Biopsy
Suk Hyun Jang, Sun Moon Kim, Jang Sihn Sohn, Ki Hyun Ryu, Hyung Bin Yuk
Clinical Ultrasound.2016; 1(2): 126. CrossRef

Case Report

Novel Mutation in PRKAR1A in Carney Complex: Ko Un Park, Hyun-Sook Kim, Seung Kwan Lee, Woon-Won Jung, Yong-Koo Park; Korean J Pathol. 2012;46(6):595-600. Published online December 26, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.6.595

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Abstract PDF

A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase type 11A (PDE11A) gene. This is the first case wherein extensive genetic studies were performed in a patient with Carney complex in Korea.

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Structures of the PKA RIα Holoenzyme with the FLHCC Driver J-PKAcα or Wild-Type PKAcα
Baohua Cao, Tsan-Wen Lu, Juliana A. Martinez Fiesco, Michael Tomasini, Lixin Fan, Sanford M. Simon, Susan S. Taylor, Ping Zhang
Structure.2019; 27(5): 816. CrossRef
Carney Complex with Multiple Cardiac Myxomas, Pigmented Nodular Adrenocortical Hyperplasia, Epithelioid Blue Nevus, and Multiple Calcified Lesions of the Testis: A Case Report
Hyunchul Kim, Hyun-Yee Cho, Jeong Nam Lee, Kook-Yang Park
Journal of Pathology and Translational Medicine.2016; 50(4): 312. CrossRef

Original Article

The Expression of Transforming Growth Factor-beta1 and alpha-Smooth Muscle Actin is Increased in the Human Myxomatous Valve.: Jeong Hwan Park, Ho Joong Youn, Jung Sook Yoon, Chul Soo Park, Soo Sung Oh, Woo Baek Chung, Jong Won Chung, Yun Seok Choi, Dong Hyun Lee, Yong Seog Oh, Wook Sung Chung, Soon Jo Hong, Youn Soo Lee, Sung Bo Sim, Sun Hee Lee; Korean J Pathol. 2009;43(2):152-156.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.2.152

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Abstract PDF

BACKGROUND
In vitro experimental studies have reported that transforming growth factor-beta1 (TGF-beta1) stimulates the production of alpha-smooth muscle actin (alpha-SMA) in porcine valves. However, the relation between TGF-beta1 and alpha-SMA in myxomatous valves has not been elucidated.
METHODS
We classified 27 subjects into two groups: 1) myxomatous group (M:F=11:12, mean age=55+/-15 years) and 2) rheumatic group (M:F=3:1, mean age=41+/-17 years) according to preoperative echocardiographic and postoperative histologic findings. Twenty-seven valve specimens from the patients who underwent valve replacement were obtained. Tissue samples were analyzed by immunohistochemistry for TGF-beta1 and alpha-SMA. The positively stained areas were measured using an image analysis program (Image Pro-Plus 4.5), and then the TGF-beta1 volume fraction (TGF-VF) and alpha-SMA volume fraction (alpha-SMA-VF) were calculated.
RESULTS
TGF-VF in myxomatous valves was higher than in rheumatic valves (2,759+/-2,294 vs 864+/-276, p=0.04). alpha-SMA-VF in myxomatous valves was higher than in rheumatic valves (4,122+/-2,275 vs 2,421+/-844, p=0.002). There was a significant correlation between TGF-beta1 and alpha-SMA in myxomatous valves (r=0.38, p=0.04). There was no significant correlation between TGF-beta1 and alpha-SMA in rheumatic valves (r=-0.50, p=0.67).
CONCLUSIONS
TGF-beta1 and alpha-SMA may be related to the pathogenesis of myxomatous valves. The activation of TGF-beta1 might increase the expression of alpha-SMA in human myxomatous valves.

Citations

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Apoptosis and abundance of Bcl-2 family and transforming growth factor β1 signaling proteins in canine myxomatous mitral valves
Sirilak Surachetpong, Treenate Jiranantasak, Anudep Rungsipipat, E. Christopher Orton
Journal of Veterinary Cardiology.2013; 15(3): 171. CrossRef
Pathology, protein expression and signaling in myxomatous mitral valve degeneration: Comparison of dogs and humans
Heike Aupperle, Sirilak Disatian
Journal of Veterinary Cardiology.2012; 14(1): 59. CrossRef

Case Report

Angiomyofibroblastoma of Vulva: A case report.: Hye Kyung Lee, Myung Jin Joo, Kwang Min Lee, Dong Kyu Chung; Korean J Pathol. 1995;29(4):530-532.

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Abstract PDF: Angiomyofibroblastoma of the vulva is a rare mesenchymal tumor. It has been diagnostically confused with aggressive angiomyxoma which has a somewhat different clinical course and therapy. Herein we report a case of angiomyofibroblastoma of the vulva in a 46-year-old female. Microscopically, there were alternating hypercellular and hypocelluar edematous zones in which abundant capillary blood vessels were irregularly distributed. Spindle, plump spindle, and oval stromal cells were concentrated around the blood vessels, or loosely dispersed in the hypocellular area. Immunohistochemically, the stromal cells were positive for desmin, vimentin, muscle-specific actin and weakly positive for S-100 protein. Ultrastructural studies showed well developed rough endoplasmic reticulum, abundant intermediate filaments, and pinocytic vesicles in the stromal cells.

Original Article

Immunohistochemical Study of IL-4, IL-6, and TNF Expression in Cardiac Myxoma: Emphasis on Constitutional Symptoms of the Myxoma Patients.: Min Sun Cho, Soo Yeon Cho, Mi Jung Kim, Sung Sook Kim, Jeong Wook Seo, Woon Sup Han; Korean J Pathol. 1995;29(5):563-571.

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Abstract: It is well documented that cardiac myxomas are associated with immunologic features that can simulate systemic autoimmune diseases. Recently, it was reported that cardiac myxomas produce IL-6 constitutively, which could partly explain the immunologic features observed in these patients. However, only a few investigators have studied cytokines in regards to symptoms they may cause in patients with cardiac myxoma. Also there is very little information in the literature on the immunohistochmical localization of IL-6. We performed immunobistochemical stains for IL-4, TNF, and IL-6 on paraffm embbeded tissue of cardiac myxoma tissue. A bioassay of IL-6 activity in patient's serum and in cultured cells from fresh myxoma tissue was performed to ascertain the role of these cytokines in myxomas. In this study, we demonstrated inununohistochemically that there was a local overproduction of IL-4, TNF, and IL-6 in cytoplasm of the tumor cells in about half cases. Bioassays of the serum and cultured tumor cells revealed elevated IL-6 activities. Also these findings correlate to production of patient's constitutional symptoms with statistical significance (P<0.05). In conclusion, these results are of considerable importance in understanding the role of IL-4, TNF, and IL-6 in cardiac myxoma patient with constitutional symptoms, and have an impact on strategies for diagnosis and therapy of cardiac myxoma.

Case Report

Angiomyofibroblastoma of the Vulva: A case report.: Mee Sook Roh, Hea Kyoung Hur, Sook Hee Hong, Sang Kap Kim, Young Cheol Baek, Hwa Sook Moon; Korean J Pathol. 1996;30(4):344-346.

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Abstract PDF: Angiomyofibroblastoma is a distinctive, hitherto uncharacterized, benign soft tissue tumor of the vulva with histology similar to an aggressive pelvic angiomyxoma. It can be distinguished from an aggressive angiomyxoma by its circumscribed borders, higher cellularity, more numerous blood vessels, the frequent presence of plump stromal cells, minimal stromal mucin, and rarity of erythrocyte extravasation. We experienced a case of angiomyofibroblastoma of the vulva occurring in a 45-year-old woman. The lesion was a well-defined but not encapsulated mass, 4.5x4.2 cm. Histologically the mass was characterized by alternating hypercellular and hypocellular edematous zones in which abundant blood vessels were irregularly distributed. Immunohistochemically, the spindled, plump spindled, and oval stromal cells were reactive for vimentin and desmin, but not for cytokeratin, or S-100 protein.

Original Article

Mucinous Tumors of the Appendix Associated with Mucinous Tumors of the Ovary and Pseudomyxoma Peritonei: A Clinicopathologic Analysis of 5 Cases Supporting an Appendiceal Origin.: Eung Seok Lee, Han Kyeom Kim, In Sun Kim; Korean J Pathol. 1998;32(2):131-137.

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Abstract PDF: Pseudomyxoma peritonei often have synchronous appendiceal and ovarian mucinous tumors. There has been considerable debate as to whether the ovarian tumors are secondary to the appendiceal tumor or they are independent primary ovarian tumors. It is important to reveal the primary site for treatment and prognosis of a patient. Five cases of synchronous mucinous tumors of the ovary and appendix were studied. Four cases had pseudomyxoma peritonei and pseudomyxoma ovarii. The ovarian tumors were bilateral in two cases, right in two, and left in one. The ovarian tumors were four mucinous cystadenoma of borderine malignancy and one mucinous cystadenocarcinoma, and the appendiceal tumors consisted of four mucinous tumors of borderline malignancy and one mucinous adenocarcinoma. The histology of the ovarian and appendiceal tumors was similar. Rupture of the tumor was seen in all appendiceal tumors and two ovarian tumors. It has been reported that cytokeratin 7 is a useful marker for distinguishing primary ovarian neoplasms from metastases of intestinal origin. All ovarian and appendiceal tumors showed positive reaction for broad-spectrum cytokeratin, but negative for cytokeratin 7. Based on the clinicopathologic and immunohistochemical features, it should be considered that the appendiceal tumors are primary and ovarian tumors are secondary in the synchronous presentation of the ovarian and appendiceal mucinous tumors.

Case Reports

Aggressive Angiomyxoma of the Scrotum: A case report.: Jong Eun Joo, Eun Kyoung Kim, Hong Sun Uh; Korean J Pathol. 1999;33(1):59-61.

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Abstract PDF: Aggressive angiomyxoma is a rare, locally aggressive tumor and occurs exclusively in the pelvic and perineal regions of women. But this tumor can occur in men, and the ratio of man to woman is about 1:6. We report a case of aggressive angiomyxoma of the scrotum in a 75-year-old man. The resected mass measured 23 21 10 cm and weighed 1,150 g, and was covered with thick but intact scrotal skin. The cut surface of the mass showed pale yellow to grayish white loose and edematous fibrous tissue with focal cystic degeneration. Microscopically, the mass was composed of loosely arranged bland-looking spindle or stellate cells and variable sized blood vessels with thickened and hyalinized wall. The spindle cells were strong positive for vimentin, focal, weak positive for desmin and smooth muscle actin but negative for S-100 protein. The spindle cells were also positive for estrogen and progesterone receptors.

Combined Mucinous Tumor and Carcinoid of Appendix Associated with Mucinous Tumor of Ovary and Pseudomyxoma Peritonei: A case report .: Hye Jeong Choi, Mi Jin Kim; Korean J Pathol. 1999;33(11):1094-1096.

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Abstract PDF: We report a case of mucinous cystadenoma of uncertain malignant potential and carcinoid of appendix associated with bilateral mucinous cystadenoma of ovary and pseudomyxoma peritonei. The patient was a 46-year-old female. She suffered from dyspnea and lower abdominal palpable masses for several months. Ultrasonogram showed multilocular huge ovarian cysts. Appendectomy, transabdominal hysterectomy, bilateral salphingo-oophorectomy and biopsy of omentum were performed. The bilateral ovaries measured 16 11 cm and 7X5 cm in size, respectively. The both ovaries showed multilocular cysts filled with thick mucus material. The ovarian cysts were covered by a single layer of columnar epithelium with focal proliferation. Mucus materials dissected through the ovarian stroma (pseudomyxoma ovarii). The tip of appendix was dilated and covered by mucus material. The cut surface showed a cyst and a yellowish solid mass proximal to the cyst. Microscopically, the appendiceal cyst was lined by stratified columnar epithelium with moderate cytologic atypia. Mucus material dissected through the wall. In the proximal portion of the appendix, a classic carcinoid with focal tubular form was present in submucosa and muscle layer. The omentum was covered by thick mucus material. Microscopically, the omentum showed mucinous epithelium and mucus material (pseudomyxoma peritonei).

Myxoma of the Breast: A case report.: Jung Yeon Kim, Hye Jae Cho, Se Hwan Han; Korean J Pathol. 2000;34(6):471-474.

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Abstract PDF: A case of myxoma of the breast was reported. A 25-year-old woman showed a lump in the left breast which was suddenly enlarged after the delivery of a baby. A tumor measuring 73.53cm was located in the upper outer quadrant of the breast. Fine needle aspiration cytology revealed scattered benign spindle shaped mesenchymal cells with abundant myxoid material. On excision, the tumor was partly solid, partly cystic and multilocular. Each nodule consisted of an abundant mucoid material with a few spindle or stellate mesenchymal cells. Pleomorphism and mitosis were absent. The mesenchymal cells showed immunoreactivities for S-100 protein, smooth muscle actin, and CD34. The myxoid stroma was positively stained with alcian blue and mucicarmine. These findings suggest that constituent cells derive from totipotential primitive mesenchymal cells.

Myxoma of the Larynx Presenting As a Nodule.: Young Soo Song, Si Hyong Jang, Kyueng Whan Min, Woong Na, Se Min Jang, Young Jin Jun, Seung Sam Paik; Korean J Pathol. 2008;42(5):306-307.

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Abstract PDF: We describe herein a rare case of a laryngeal myxoma presenting as a nodule. Laryngeal myxomas involving the neck region, especially the laryngeal area, are quite rare. A 36-year-old male patient presented with a 2 month history of hoarseness. On laryngoscopic examination, there was a myxoid homogeneous transparent mass on the right vocal cord. On microscopic examination, the lesion was hypocellular and myxoid. The lesion showed stellate or spindle cells which were evenly dispersed in the poorly vascularized myxoid stroma. Although the incidence is extremely rare, a laryngeal myxoma should be considered in the differential diagnosis of laryngeal masses.

Myxoma of the Ovary with Uncertain Malignant Potential: A Case Report.: Min A Kim, Ji Hoon Kim, Jae Y Ro, Geunghwan Ahn, In Ae Park; Korean J Pathol. 2004;38(6):434-437.

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Abstract PDF: Primary ovarian myxoid tumor such as myxoma, myxoid liposarcoma and myxoid leiomyosarcoma is extremely rare neoplasm. We experienced a case of unusual myxoid tumor of the ovary in a 25 year-old woman. She was admitted for an incidentally found ovarian mass during antenatal check. Radiologic studies revealed a 5.5x5 cm-sized solid mass in left ovary and she was undertaken left oophorectomy. Grossly, the round ovarian mass was measuring 8x6x5 cm, and the cut surface was predominantly solid with myxoid appearance. Microscopically, the tumor was surrounded by thick collagenous capsule and had moderate cellularity and rich vascularity. The tumor cells were stellate-shaped with abundant extracellular myxoid material without atypia. We initially thought this lesion as myxoma, but the cellularity was too high as an ordinary myxoma. Myxoid liposarcoma could also be considered as the differential diagnosis, however there was no convincing lipoblast. So, we diagnosed that tumor as myxoma with uncertain malignant potential.

Angiomyxoma of Umbilical Cord: A case report.: Young Dae Kim, Yeun Soo Lee, Kyu Pum Lee; Korean J Pathol. 1994;28(5):550-552.

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Abstract PDF: Tumors of umbilical cord, especially angiomyxoma, are extremely rare lesions. To our knowledge, five cases of angiomyxoma have been reported previously in the umbilical cord. Sonography two weeks after the finding of an elevated serum alpha-fetoprotein, detected a mass of the umbilical cord in a 27-year-old multiparous woman at 18(+3) weeks gestation. Previous sonogram was normal (11 weeks gestational age). At 26 weeks, a premature female infant was delivered by induction and a mass was located in the region of placental insertion of the cord. Section through the mass revealed rubbery myxoid appearance. Microcopically, numerous small vascular channels with thin walls were embedded in loose myxoid matrix. A case of angiomyxoma of umbilical cord with elevation of serum alpha-fetoprotein is presented together with a review of the literature. We hope that this case will help define the natural history of primary angiomyxoma of umbilical cord.

Superficial Angiomyxoma: A case report.: Ji Hwa Kim, Joo Ryung Huh, Je Geun Chi; Korean J Pathol. 1994;28(5):544-546.

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Abstract PDF: Superficial angiomyxoma is a comparatively rare dermal and subcutaneous tumor. We report a case of superficial angiomyxoma of the thumb in view of its rarity and typical light and electronmicroscopic features. The patient was a 46-year-old male. who presented with an asymptomatic, slowly enlarging mass that developed in the left thumb over the 5 years. He had a history of trauma and electric burn in the same area 20~30 years ago. Simple X-ray and magnetic resonance imaging revealed 35x30mm, mass with destruction of distal phalangeal bone. On operation, the lesion was moderately well circumscribed and soft with lobulated nodules that elevated the overlying skin and destroyed the underlying bone. The cut surface of the mass was glistening and slimy. The mass was whitish gray and lobulated. Bony involvement was not present. Microscopically, the tumor was composed of stellated and spindle shaped stromal cells which were scattered throughout myxoid ground substance. Neither nuclear hyperchromasia nor plemorphisam was present. Small to medium sized thin walled blood vessels were scattered. There was a scanty infiltrate of inflammatory cells. The S-100 protein immunostaining was negative in tumor cells. On electron microscopy, the cytoplasm of the stromal cells contained well developed rough ednoplasmic reticulums and other features that indicated differentiation toward fibroblasts.

Aggressive AngiOmYxoma Occuring in Ischiorectal Fossa: A case report.: Jai Hyang Go, Sun Hee Sung, In Joon Choi; Korean J Pathol. 1994;28(1):99-101.

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Abstract PDF: 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.

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