Identification of rare atypical BCR-ABL1 transcript: A case report

CML is characterized by the presence of a BCR-ABL1 fusion transcript. Several guidelines have been published for its detection and molecular monitoring. Here, a case is described of chronic myeloid leukemia presenting in the blast phase with a rare variant transcript, with a discussion on possible red flags in its detection and genetic testing and description of the patient's clinical characteristics. This case highlights the pitfalls of using real-time quantitative reverse-transcription polymerase chain reaction (RQ-PCR) for diagnosis of CML, especially when the clinical picture and the test results are discordant.

Cyst-like Combined Dermatofibroma: Aneurysmal and Atypical Variants / 대한피부과학회지

Dermatofibroma is a common benign fibrohistiocytic tumor that mainly presents as a brown papule or nodule. However, it can sometimes present with diverse clinical forms such as a cyst. Combined dermatofibroma is defined as a tumor that comprises two or more variants of dermatofibroma in a single lesion. We herein report on a case of combined dermatofibroma in a 40-year-old woman who presented with a cyst form on her lateral neck. The histological findings included the combined features of the aneurysmal and atypical variants of dermatofibroma such as cleft-like spaces with hemorrhage, some pleomorphic cells and multinucleated giant cells, as well as a feature of typical dermatofibroma.

A Case of Dermatofibroma: Aneurysmal and Atypical Variants / 대한피부과학회지

Dermatofibroma is a common benign fibrohistiocytic tumor which may present with a variety of pathological variants. Combined dermatofibromas are defined as dermatofibromas which show two or more histological variants in a single lesion. We herein report an unusual case of dermatofibroma in a 39-year-old man who presented with a solitary asymptomatic black-colored nodule on his right thigh, which showed histological features of aneurysmal and atypical variants simultaneously. Histologically, it showed cleft-like vascular spaces with hemorrhaging and focal cellular atypia in the background of typical dermatofibroma.

A Case of Dermatofibroma, Aneurysmal and Atypical Variants / 대한피부과학회지

Dermatofibroma is a common benign fibrohistiocytic lesion which may present with a variety of pathological variants. We report an unusual case of dermatofibroma which has histological features of aneurysmal variant and atypical variant in a single lesion. The lesion was an asymptomatic, bean-sized, brownish, hard nodule occurring on the leg in a 24-year-old female. Histologically, it has features of typical dermatofibroma as well as hemorrhagic cleft-like vascular spaces at the center of the tumor, numerous monster cells, and multinucleated giant cells.