Case Report

Mature T-Cell Lymphoma/Leukemia with a Novel Skap1: Jak2 Fusion

by Serrano del Castillo2, Carlos Soto2, Rebeca Manso1, Raúl Córdoba2, Juan Torre Castro3, Nerea Carvajal García1, Luis Requena Caballero3, Rocío Nieves Salgado2, Socorro María Rodríguez Pinilla1

1Pathology Department, University Hospital Fundación Jiménez Díaz, Madrid, Spain.

2Hematology Department, University Hospital Fundación Jiménez Díaz, Madrid, Spain.

3Dermatology Department, University Hospital Fundación Jiménez Díaz, Madrid, Spain

*Corresponding author: Francisco Javier Díaz De La Pinta, Pathology Department, University Hospital Fundación Jiménez Díaz, Madrid, Spain

Received Date: 12 January 2024

Accepted Date: 17 January 2024

Published Date: 19 January 2024

Citation: Pinta FJD de la, Castillo CS del, Soto C, Manso R, Córdoba R, et al. (2024) Mature T-Cell Lymphoma/Leukemia with a Novel Skap1: Jak2 Fusion. Ann Case Report 09: 1598. https://doi.org/10.29011/2574-7754.101598.

Keywords: T-Prolymphocytic Leukemia/Lymphoma; Mature T-Cell Lymphoma/Leukemia; JAK2; SKAP1; Cutaneous T-Cell Lymphoma

Introduction

The recent WHO/ICC-classifications recognize six subgroups of primary leukemic mature T-cell neoplasms, namely aggressive-mature-NK-cell-leukemia, Sezary-Syndrome (SS), T-Cell-Prolymphocytic Leukemia (T-PLL), Adult-T-Cell Lymphoma/leukemia (ATLL), T-Large Granular-Lymphocytic Leukemia (LGLL) and chronic lymphoproliferative disorder of NK-cells [1,2]. In most instances the diagnosis of these rare disorders is straightforward since they are distinct from one another [1,2].

We present a leukemic mature T-cell neoplasm with cutaneous involvement undergoing Complete Remission (CR) after Alemtuzumab treatment, with peculiar clinical and molecular features not fitting into any of the currently defined subgroups [1,2].

Case Report

A 55-year-old man complained of an erythematous, butterflypattern, non-pruritic rash on his face present for one year and subsequently spreading to his neck and back (Figure 1, A-B-C).

Figure 1A-1C: Clinical appearance of skin erythematous rash at onset. C. Resolution of skin lesions after treatment with alemtuzumab.

A skin biopsy showed a dense band-like infiltrate of atypical small to intermediate-sized lymphocytes without epidermotropism (Figure 2A-2I). The neoplastic cells were CD3/CD4/CD2/CD5/PD1/TCRBF1/CD25/FOXP3 positive (Figure 2D-E) and TdT/CD34/ CD117/MNDA/CD7/TCL1/CD30/TIA1/granzymeB/perforin/CD56/CD57/CD20/TCRG/ICOS negative. Epstein - Barr Virus Encoded Small RNA (EBER) by in-situ-hybridization was negative.