T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy, typically presenting with systemic symptoms and mediastinal involvement. Leukemia cutis (LC) and renal infiltration are rare, especially at disease onset. A 27-year-old man presented with a solitary scalp lesion without systemic symptoms or hematologic abnormalities. Histopathology revealed a blastoid lymphoid infiltrate with a T-ALL immunophenotype. Two weeks later, laboratory tests showed leukocytosis, lymphocytosis, and renal dysfunction. Imaging revealed a large mediastinal mass, scalp soft tissue involvement, and bilateral renal infiltration. Bone marrow biopsy confirmed T-ALL with a mature phenotype. FISH identified TRAD:NKX2 rearrangement and CDKN2AB deletion. The patient received three cycles of pediatric-inspired chemotherapy, achieving complete molecular remission and resolution of extramedullary disease. He subsequently underwent allogeneic hematopoietic stem cell transplantation (HSCT) from an HLA-matched sibling. Post-transplant complications included febrile neutropenia and mucositis. On day +100, he remained in minimal residual disease (MRD)-negative remission. This case illustrates a rare presentation of T-ALL with isolated skin involvement and renal infiltration at diagnosis, highlighting the importance of early biopsy and immunophenotyping of atypical skin lesions. Intensive chemotherapy followed by HSCT represents a viable strategy for young adults with high-risk T-ALL and extramedullary disease.

Leukemia cutis, a tricky diagnosis: a case report and literature review / De Santis, V., Mariani, S., Pileggi, G., Lubrano Lobianco, F., Conte, E., Maiorana, G., Togni, C., Piedimonte, M., Di Napoli, A., Persechino, S., Rogges, E., Tafuri, A.. - In: HEMATO. - ISSN 2673-6357. - 6:4(2025). [10.3390/hemato6040038]

Leukemia cutis, a tricky diagnosis: a case report and literature review

De Santis, Valentina
;
Mariani, Sabrina
;
Pileggi, Giulia;Lubrano Lobianco, Federica;Conte, Esmeralda;Maiorana, Gianluca;Togni, Chiara;Piedimonte, Monica;Di Napoli, Arianna;Persechino, Severino;Rogges, Evelina;Tafuri, Agostino
2025

Abstract

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy, typically presenting with systemic symptoms and mediastinal involvement. Leukemia cutis (LC) and renal infiltration are rare, especially at disease onset. A 27-year-old man presented with a solitary scalp lesion without systemic symptoms or hematologic abnormalities. Histopathology revealed a blastoid lymphoid infiltrate with a T-ALL immunophenotype. Two weeks later, laboratory tests showed leukocytosis, lymphocytosis, and renal dysfunction. Imaging revealed a large mediastinal mass, scalp soft tissue involvement, and bilateral renal infiltration. Bone marrow biopsy confirmed T-ALL with a mature phenotype. FISH identified TRAD:NKX2 rearrangement and CDKN2AB deletion. The patient received three cycles of pediatric-inspired chemotherapy, achieving complete molecular remission and resolution of extramedullary disease. He subsequently underwent allogeneic hematopoietic stem cell transplantation (HSCT) from an HLA-matched sibling. Post-transplant complications included febrile neutropenia and mucositis. On day +100, he remained in minimal residual disease (MRD)-negative remission. This case illustrates a rare presentation of T-ALL with isolated skin involvement and renal infiltration at diagnosis, highlighting the importance of early biopsy and immunophenotyping of atypical skin lesions. Intensive chemotherapy followed by HSCT represents a viable strategy for young adults with high-risk T-ALL and extramedullary disease.
2025
t-cell acute lymphoblastic leukemia (t-all); leukemia cutis (lc); extramedullary localization; skin involvement; nkx2 rearrangement
01 Pubblicazione su rivista::01i Case report
Leukemia cutis, a tricky diagnosis: a case report and literature review / De Santis, V., Mariani, S., Pileggi, G., Lubrano Lobianco, F., Conte, E., Maiorana, G., Togni, C., Piedimonte, M., Di Napoli, A., Persechino, S., Rogges, E., Tafuri, A.. - In: HEMATO. - ISSN 2673-6357. - 6:4(2025). [10.3390/hemato6040038]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1752033
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