A case of lymphoblastoid natural killer (NK)‐cell lymphoma: association with the NK‐cell receptor complex CD94/NKG2 
and TP53 intragenic deletion

• Published in: British journal of dermatology (1951) Vol. 146; no. 1; pp. 148 - 153
• Main Authors: Knudsen, H., Grønbæk, K., Thor Straten, P., Gisselø, C., Johansen, P., Timshel, S., Bergmann, O.J., Hansen, N.E., Ralfkiær, E.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science, Ltd 01-01-2002; Blackwell
• Subjects: Adult; Antigens, CD - genetics; Antineoplastic Combined Chemotherapy Protocols - therapeutic use; Asparaginase - administration & dosage; Biological and medical sciences; Bone Marrow Transplantation; CD94; Cyclophosphamide - administration & dosage; Doxorubicin - administration & dosage; Female; Gene Deletion; Hematologic and hematopoietic diseases; Humans; Killer Cells, Natural; Lectins, C-Type; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; lymphoblastoid natural killer‐cell lymphoma; Medical sciences; Membrane Glycoproteins - genetics; NK Cell Lectin-Like Receptor Subfamily D; NKG2; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics; Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology; Precursor Cell Lymphoblastic Leukemia-Lymphoma - therapy; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Skin Neoplasms - therapy; TP53; Treatment Outcome; Vincristine - administration & dosage; Natural killer cell; Case study; Human; Skin disease; Cutaneous hematologic disease; TP53 Gene; Lymphoproliferative syndrome; Deletion; Malignant hemopathy; Skin; Lymphoma
• ISSN: 0007-0963; 1365-2133
• DOI: 10.1046/j.0007-0963.2001.04571.x

Summary  The clinical, histological, phenotypic and genotypic features of a lymphoblastoid natural killer (NK)‐cell lymphoma presenting in the skin in a young caucasian woman are described. The disease behaved aggressively, but long‐lasting remission was obtained by combination chemotherapy followed by autologous bone marrow transplantation. The blastoid cells were positive for terminal deoxynucleotidyl transferase, CD34, CD56 and CD4. Furthermore, the NK‐cell receptor complex CD94/NKG2 was strongly expressed, as shown by examination with reverse transcription–polymerase chain reaction. The T‐cell receptor (TCR)‐γ genes were in germline, and with the exception of CD4 all T‐cell antigens were negative, including CD3, TCR‐β, TCR‐δ, TIA‐1, granzyme B and perforin. Epstein–Barr virus was negative, and no expression was seen of myeloid cell‐associated markers. Molecular analysis showed no abnormalities of the CDKN2A (p16), CDKN2B (p15) or TNFRSF6 (Fas) genes. By contrast, a 34‐bp deletion in exon 7 of the TP53 (p53) gene was detected. It is suggested that lymphoblastoid NK‐cell lymphoma, which is a rare but distinctive disease, originates from NK cell precursors and may be associated with and possibly caused by alterations in the TP53 gene. Experience is too limited to warrant therapeutic suggestions. However, stem cell transplantation may be a useful option in younger patients.