ABSTRACT
Thymic carcinoma is a rare epithelial neoplasm of the thymus. The presence of a specific chromosomal abnormality may augment diagnosis and therapeutic stratification. We report a 15-year-old boy diagnosed with thymic carcinoma who presented with a large anterior mediastinal mass, pleural effusion, and bone metastasis. The pleural fluid, cytology, bony lesions, and bone marrow were examined and chromosomal studies were performed. Histologic and immunohistochemical studies confirmed a poorly differentiated squamous cell type of thymic carcinoma. The karyotype of the pleural fluid at the time of diagnosis revealed a complex three-way translocation t(11;15;19)(p15;q12;p13.3). The constitutional karyotype was 46,XY. Five months after diagnosis, a bone marrow aspirate demonstrated tetraploidy with all translocation chromosomes in duplicate, as well as an unbalanced rearrangement involving chromosome 1: 92,XXYY,t(11;15;19)(p15;q12;p13.3)x2[15]/92,XXYY,idem,add(1)(qter)[5]. Despite aggressive multiagent chemotherapy, the patient's condition progressed with bone marrow disease and he died 6 months after diagnosis. Several case reports of a similar chromosomal abnormality have been reported for thymic carcinoma in young patients with poor outcome. This karyotypic abnormality appears to mark a cohort of patients with thymic carcinoma who have a poor prognosis despite aggressive chemotherapy.
Subject(s)
Bone Neoplasms/secondary , Carcinoma, Squamous Cell/genetics , Carcinoma, Squamous Cell/secondary , Thymus Neoplasms/genetics , Thymus Neoplasms/pathology , Translocation, Genetic , Adolescent , Bone Neoplasms/genetics , Bone Neoplasms/pathology , Carcinoma, Squamous Cell/pathology , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 15 , Chromosomes, Human, Pair 19 , Cytogenetic Analysis , Fatal Outcome , Humans , Immunohistochemistry , Karyotyping , MaleABSTRACT
The authors report a unique translocation in a patient with M7 acute myeloid leukemia and review the literature. A 22-month-old girl without Down syndrome was diagnosed with acute myeloid leukemia, subtype M7 (AML-M7), and died with relapsed disease following bone marrow transplantation. Tumor cells were evaluated using cytogenetics (including spectral karyotyping), immunohistochemistry, and flow cytometry. The patient was found to have a previously unreported complex translocation as follows: 50,XX,der(1)t(1;5)(p36?.1;p15?.1),del(5)(p15?.1), +6,+der(6;7)(?;?),der(7)t(6;7)(?;p22)[2],der(9)t(6;9) (?;p21)t(9;14)(q34;q11.2-q13),+10,t(12;16)(p13;q24),-14[2], del(14)(q13)[2],+der(19)t(1;19)(?;p13.3),+22[cp 4]. AML-M7 in non-Down syndrome patients is a rare disease that requires improved prognostic markers.
Subject(s)
Leukemia, Megakaryoblastic, Acute/genetics , Translocation, Genetic/genetics , Bone Marrow Transplantation , Chromosome Banding , Chromosomes, Human, Pair 12/genetics , Chromosomes, Human, Pair 14/genetics , Chromosomes, Human, Pair 16/genetics , Chromosomes, Human, Pair 19/genetics , Chromosomes, Human, Pair 9/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Leukemia, Megakaryoblastic, Acute/diagnosis , Spectral KaryotypingABSTRACT
We report on 3 children undergoing treatment for acute lymphoblastic leukemia (ALL), who developed systemic nontuberculous mycobacterial (NTM) infections. All 3 patients were treated successfully with 5 months or less of antimicrobial therapy and completed their chemotherapy with no further recurrence of their NTM infection. NTM infections in some children with ALL may be successfully treated with antimicrobial agents without necessarily compromising the ALL treatment. The optimal duration of therapy for NTM remains unclear, but may be shorter than previously reported.
