Philadelphia chromosome-positive lymphoblastic lymphoma-Is it rare or underdiagnosed?

Abstract

Lymphoblastic lymphomas (LBLs) are neoplasms of precursor B and T cells; they are considered in the same spectrum as precursor B and T cell acute lymphoblastic leukemia (ALL). The World Health Organization classification classifies both LBL and ALL as one disease entity. While chromosome abnormalities are well defined with all of their therapeutic and prognostic implications in ALL, these are not well studied in LBL. Here, we describe a case of Philadelphia chromosome-positive LBL and review the available literature regarding this entity.

Philadelphia-positive lymphoblastic lymphoma: a case report and review of the literature

“…Philadelphia positive LBL is a rare entity which represents a real challenge for hematologists: there's the chance that this entity is often underdiagnosed especially in departments where qualitative PCR for BCR/ABL rearrangement is not routinely done; once doctors are able to catch the diagnosis the role of usual ALL negative risk factors such as hypodiploidy and/or other abnormal karyotype are not well defined (1) and that can lead to a real dilemma about induction therapy and consolidation.…”

<i>BCR/ABL1</i>-positive B-lymphoblastic Lymphoma Successfully Treated with Dasatinib-combined Chemotherapy

“…In previous reports, the patients who underwent standard chemotherapy without TKI were found to have developed relapse (10). In contrast, all patients who were administered TKI, with or without standard chemotherapy, following the treatment strategy for BCR-ABL1 positive B-ALL, achieved CR, and many of them sustained CR (7,(11)(12)(13)(14). In our case, the patient was first administered reduced-intensity induction therapy consisting of dasatinib and steroid and achieved CR two weeks after the initiation of treatment.…”

“…Therefore, BCR/ABL1-positive LBL is considered to be rare. Indeed, six reports on B-LBL with BCR-ABL1 fusion gene transcript have been published, all of which are summarized in Table (7,(10)(11)(12)(13)(14). BCR-ABL1 was detected in biopsied specimens using either a FISH or RT-PCR analysis in all cases.…”

“…Osteolytic bone lesions and skin lesions are the most common infiltration sites, while mediastinal sites, bone marrow, isolated lymph nodes, visceral sites, or central nervous system involvement are rare (5,6). The pancreas and duodenum are particularly rare sites of involvement and have only been described in case reports (7,8).…”

“…This fusion gene is the most frequent genetic abnormality in ALL and is associated with a poor prognosis (2). However, BCR-ABL1 in patients with B-LBL has been documented only in case reports (7,(10)(11)(12)(13)(14).…”