Mammary-Type Myofibroblastoma: A Report of Two Cases

Mammary-type myofibroblastoma (MFB) is a rare, benign spindle cell neoplasm occurring along the milkline, with extension from the mid-axilla to the medial groin. It is histologically and immunohistochemically identical to MFB of the breast and is part of a spectrum of lesions that includes spindle cell lipoma and cellular angiofibroma. Recently, we experienced two cases of mammary-type MFB involving male patients aged 30 and 58 years, respectively. The tumors were located in the right scrotal sac and in the right axilla. Wide excisions were performed. Microscopically, the masses were composed of haphazardly arranged, variably sized fascicles of bland spindle cells and were admixed with mature fat tissue. The spindle cells in both cases showed immunopositivity for desmin and CD34 and negativity for smooth muscle actin. Loss of retinoblastoma (RB)/13q14 loci is a characteristic genetic alteration of mammary-type MFB, and we identified loss of RB protein expression by immunohistochemical staining. We emphasize the importance of awareness of this rare neoplasm when a spindle cell neoplasm is accompanied by desmin immunopositivity. The second patient was alive without recurrence for 20 months, and the first patient had not been followed.

MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report

Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.

Utility of fluorescence in situ hybridization in the deletion of chromosome 13 in multiple myeloma and its clinical significance / 白血病·淋巴瘤

Objective To explore the deletion of chromosome 13 in multiple myeloma (MM), clinical significance of FISH-defined partial deletion chromosome 13 in MM patients were investigate. Methods Fluorescence in situ hybridization (FISH ) was performed on bone marrow from 38 patients with MM to study the deletion of Rb-1 gene and locus 13q14 on chromosome 13. Fisher exact propability was used to study the relations between partial deletion of chromosome 13 and clinical features. Results 20 out of the 38 cases were found with deletion of chromosome 13; deletion of Rb-1 gene in 4 cases; deletion of locus 13q14 in 2 out of 38 cases; and 14 cases with both of deletions. Fisher exact propability showed that deletion of chromosome 13 was associated with hypso-serum lactic dehydrogenase, stage of ISS. Conclusion Deletion of Rb-1 gene and locus 13q14 were both common cytogenetic changes in MM patients with effect on the biological behavior of the disease, but the value of del (13q14) in MM needs further investigation. FISH was a rapid, accurate and sensitive technique in the analysis of del (13q14) in MM.

Rhabdomyosarcoma Presenting as Acute Leukemia Identified by Cytogenetic and FISH Analysis of Bone Marrow / 대한혈액학회지

Rhabdomyosarcoma is the most common malignant soft tissue tumor in children. In adults, however, it is extremely rare, with only a few cases observed. We describe a case of an adolescent who presented with hematologic findings compatible with acute leukemia. A 35-year-old woman was transferred to the Dong-A University Hospital for further evaluation of thrombocytopenia, anemia, and ovarian mass lesions. The peripheral blood film showed a leukoerythroblastic picture with circulating blasts. The bone marrow was markedly hypercellular and 85.6 % of all nucleated cells were atypical tumor cells. Immunophenotyping with both myeloid and lymphoid markers was all negative. With cytogenetic analysis of bone marrow 8 of 11 metaphases were characterized by a translocation t(2;13)(q35;q14), strongly indicated a diagnosis of alveolar rhabdomyosarcoma. Fluorescence in situ hybridization (FISH) using whole chromosome paints for chromosomes 2 and 13 confirmed the cytogenetic diagnosis.

The 13q14 Deletion in Retinoblastoma

Retinoblastoma is the most common intraocular malignant tumor in children. Retinoblastoma is divided two groups, hereditary and non-hereditary. Hereditary retinoblastoma is relakd to chormosomal abnormalities. By banding technique of somatic chromosome in retinoblastoma, deletion of chromosome 13q14 is found, but it has not been reported domestically. We experienced two cases of retinoblastoma with chromosome 13q14 deletion.