Journal of Pathology and Translational Medicine

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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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

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.

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.

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.

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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