RESUMEN
BACKGROUND: Anaplastic lymphoma kinase-positive (ALK+) large B-cell lymphoma (LBCL) is a rare type of lymphoma with high invasiveness and rapid progression. It occurs in all age groups, but is extremely rare in children. The lesions mainly involve the lymph nodes and may present with extra-nodal involvement. Response to conventional chemotherapies and local radiotherapy is poor, with a 5-year overall survival of less than 40%. Recently, the use of ALK inhibitors for the treatment of this disease has been reported. CASE SUMMARY: We present a case of a 12-year-old boy diagnosed with ALK+LBCL. The patient had a 2-mo medical history of a calvarial mass, extensive systemic involvement, and positive bone marrow clathrin heavy chain (CLTC)-ALK fusion gene. Complete remission 1 (CR1) was achieved using the modified LMB89 Group C regimen followed by autologous stem cell transplantation. The patient relapsed 3 mo later. He then achieved CR2 with three short courses of chemotherapy (COP, reduced-dose ICE, low-dose Ara-c+VP16) and continuous alectinib targeted therapy. Afterward, allogeneic hematopoietic stem cell transplantation (allo-HSCT) was performed. At 16 mo after the allo-HSCT, the patient was still in CR2. CONCLUSION: The modified LMB89 Group C regimen and ALK inhibitors are effective. Allo-HSCT should be performed after remission.
RESUMEN
BACKGROUND: The aberrant expression of the anaplastic lymphoma kinase (ALK) gene in ALK-positive (ALK+) anaplastic large cell lymphoma (ALCL) is usually due to t(2;5)/NPM-ALK. However, rarely, aberrant ALK expression can also result from a rearrangement of the ALK gene with various partner genes. Central nervous system (CNS) metastasis is very rare in ALK+ALCL. Patients with CNS involvement show an inferior prognosis. CASE SUMMARY: Here, we present the case of an 8-year-old girl diagnosed with ALK+ALCL. She presented with fever, skin nodules, leg swelling, and abdominal pain over the preceding 6 mo. She had extensive involvement and showed an extraordinary rare translocation, t(2;17)/CLTC-ALK, as demonstrated by RNA-seq. She underwent chemotherapy as per ALCL99, followed by vinblastine (VBL) maintenance treatment, and achieved complete remission. However, she developed CNS relapse during VBL monotherapy. The patient achieved a durable second remission with high-dose chemotherapy (including methotrexate 8 g/m2) and continuous treatment with alectinib and VBL. CONCLUSION: Alectinib showed significant and durable CNS effects in this patient. However, more cases are needed to prove the efficacy and safety of alectinib for pediatric ALK+ALCL patients.
RESUMEN
ALK+ large B cell lymphoma (LBCL) is a very rare aggressive neoplasm. It accounts for less than 1% of diffuse large B cell lymphoma (DLBCL). This is a case report of ALK+ DLBCL in a 34-year-old woman with an ileocaecal mesenteric mass. Microscopically, the neoplastic cells were of high grade along with a spindle cell component. Immunohistochemistry revealed ALK+, MUM-1+, LCA+, Vimentin+, EMA+ and negative for CK 20, CK 7, neuroendocrine, melanocytic, muscle specific, and GIST panel markers. This case report, hence, presents the rarity of this tumor.
Asunto(s)
Quinasa de Linfoma Anaplásico/genética , Linfoma de Células B Grandes Difuso/diagnóstico , Linfoma de Células B Grandes Difuso/genética , Adulto , Antineoplásicos/uso terapéutico , Biomarcadores de Tumor/genética , Resultado Fatal , Femenino , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Mesenterio/patologíaRESUMEN
Anaplastic lymphoma kinase-positive large B-cell lymphoma (ALK(+) LBCL) represents a distinct subtype of mature B-cell neoplasms in the most recent WHO classification of hematolymphoid neoplasms. It has a characteristic immunoblastic/plasmablastic morphology, a distinct immunophenotypic profile and recurrent cytogenetic/molecular genetic abnormalities, and has been reported in both the adult and pediatric populations. With the advent of new ALK inhibitors for possible targeted therapy clinical trials, it is important to recognize this new entity, particularly in the pediatric population because the prognosis is worse than the more common ALK+ anaplastic large cell lymphoma. Though rare, awareness of its existence will avoid potential misdiagnosis and facilitate appropriate management.