Publications by authors named "Kathleen E Richkind"
Pilomatricoma, also known as 'calcifying epithelioma of Malherbe', is a common skin adnexal tumor that mimics hair growth. Its proliferating cells seem distinctly programmed to undergo terminal differentiation and death. We report the first cytogenetic investigations of pilomatricoma.
View Article and Find Full Text PDFLipoblastoma: appreciation of an expanded spectrum of disease through cytogenetic analysis.
Arch Pathol Lab Med
September 2008
Lipoblastomas are rare soft tissue tumors that predominantly affect the pediatric population. We describe a lipoblastoma of the right hand in a 16-month-old boy. Radiographically the tumor appeared large but fairly well circumscribed and composed primarily of fat.
View Article and Find Full Text PDFLipofibromatosis is a relatively rare pediatric neoplasm, which usually manifests as an ill-defined soft tissue mass involving the upper and lower distal extremities, the trunk, and, less frequently, the head. To date, no cytogenetic abnormalities have been reported in this uncommon neoplasm. We present a case of lipofibromatosis featuring a three-way t(4;9;6) translocation in a 5-year-old boy.
View Article and Find Full Text PDFSolid variant of aneurysmal bone cyst with a novel (X;9) translocation.
Cancer Genet Cytogenet
October 2007
Aneurysmal bone cysts (ABC) are locally destructive bone lesions occurring predominantly in young adults. There has been debate as to the neoplastic nature of these lesions. In recent years, however, compelling evidence of clonal chromosomal abnormalities has indicated a likely neoplastic origin.
View Article and Find Full Text PDFOnly two karyotypes of perineurioma have previously been reported, 46XX,del(10)(q22q24),der(10),del(22)(q11-12q?)/47, idem,+der(10) (in a sclerosing perineurioma of the finger) and 45,XX,add(14)(p13),-22,add(22)(q11.2) (in an intraneural perineurioma). We investigated the clinicopathologic and cytogenetic findings in four consecutive perineuriomas in children, including two small (< or =1 cm) digital sclerosing perineuriomas, a 2-cm intraneural perineurioma, and a 16-cm abdominal soft tissue perineurioma.
View Article and Find Full Text PDFCore binding factor (CBF) participates in specification of the hematopoietic stem cell and functions as a critical regulator of hematopoiesis. Translocation or point mutation of acute myeloid leukemia 1 (AML1)/RUNX1, which encodes the DNA-binding subunit of CBF, plays a central role in the pathogenesis of acute myeloid leukemia and myelodysplasia. We characterized the t(X;21)(p22.
View Article and Find Full Text PDFBackground: Proliferative lesions of the bone surface, such as subungual (Dupuytren) exostosis and bizarre parosteal osteochondromatous proliferation (BPOP, Nora lesion) are currently classified as reactive, proliferative processes that mimic primary neoplasms of bone.
Methods: Cytogenetic analysis was performed on 3 subungual exostoses of the great toe and 2 BPOP lesions of the radius and ulna.
Results: A balanced translocation t(X;6) was identified in all cases of subungual exostoses.
Translocation (16;20)(p11.2;q13). sole cytogenetic abnormality in a unicameral bone cyst.
Cancer Genet Cytogenet
September 2002
We report the results of cytogenetic analysis of a case of unicameral bone cyst with a t(16;20(p11.2;q13) present as the sole abnormality. To our knowledge, this is only the second report of a cytogenetically characterized tumor of this type.
View Article and Find Full Text PDFA t(4;11)(q21;p15) in a case of T-cell lymphoma and a case of acute myelogenous leukemia.
Cancer Genet Cytogenet
January 2002
The translocation (4;11)(q21;p15) has been observed in acute lymphoblastic as well as acute myeloid leukemias (ALL and AML, respectively). We report the first case of T-cell lymphoma with t(4;11)(q21;p15) and a case of AML. The clinical history of and cytogenetics in the latter is suggestive of a secondary leukemia; his karyotype revealed emergence of a t(3;11)(q21;q13) in addition to the t(4;11).
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