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• W2004573866 abstract "Extramedullary manifestations of acute myeloid leukemia include chloroma, leukemia cutis, meningeal leukemia, or gum infiltration. Translocation t(8;21) is the major cytogenetic risk factor (1Byrd J.C. Weiss R.B. Arthur D.C. et al.Extramedullary leukemia adversely affects hematologic complete remission rate and overall survival in patients with t(8;21)(q22;q22) results from Cancer and Leukemia Group B 8461.J Clin Oncol. 1997; 15: 466-475PubMed Google Scholar), and the neural cell adhesion molecule CD56 is frequently expressed in acute myeloid leukemia with t(8;21). CD56, which has a homophilic binding property, is expressed in a variety of tissues, and may partly account for the high incidence of extramedullary leukemia in acute myeloid leukemia with t(8;21) (1Byrd J.C. Weiss R.B. Arthur D.C. et al.Extramedullary leukemia adversely affects hematologic complete remission rate and overall survival in patients with t(8;21)(q22;q22) results from Cancer and Leukemia Group B 8461.J Clin Oncol. 1997; 15: 466-475PubMed Google Scholar). In acute lymphoblastic leukemia, however, most extramedullary relapses occur in sequestered sites (eg, the testis and the central nervous system).A 23-year-old man with a T-lineage acute lymphoblastic leukemia (initial leukocyte count, 260 × 109/L; bone marrow, 92% blast cells with normal karyotype) attained complete remission after standard treatment (2Hoelzer D. Thiel E. Loffler H. et al.Prognostic factors in a multi-center study for treatment of acute lymphoblastic leukemia in adults.Blood. 1988; 71: 123-131PubMed Google Scholar). Eighteen months later, while on maintenance therapy, he developed a progressive, painless right breast lump (Figure 1) without discharge. Physical examination revealed a nontender breast mass measuring 2 cm in diameter, normal testes, normal secondary sexual characteristics, and no peripheral lymphadenopathy. Serum levels of testosterone, estrogen, β-human chorionic gonadotropin, prolactin, creatinine, albumin, and aminotransferases were normal. A biopsy specimen of the breast lump showed heavy infiltration by diffuse sheets of small-to-medium sized lymphoid cells, with frequent mitosis and apoptosis (Figure 2). The abnormal lymphoid cells were immunoreactive for CD3 terminal deoxynucleotidyl transferase, but negative for CD20, CD56, myeloperoxidase, and cytokeratin. Bone marrow aspirate and biopsy specimens showed normal bone marrow with only 1% blast cells. He was diagnosed with isolated extramedullary relapse of leukemia in the breast.Figure 2Extensive infiltration of the breast tissue by sheets of blastic lymphoid cells (hematoxylin and eosin × 275).View Large Image Figure ViewerDownload (PPT)He achieved a second complete remission after treatment with high-dose cytarabine and local irradiation (36 Gy). Six months later, he developed multiple cranial nerve palsies with ophthalmoplegia and ptosis. Lumbar puncture confirmed central nervous system relapse. He received both systemic and intrathecal chemotherapy, but died of progressive disease 7 months after the relapse of leukemia in the breast.In a survey of malignant hematopoietic breast tumors spanning 43 years in a single institution, 45 patients were identified (3Lin Y. Govindan R. Hess J.L. Malignant hematopoietic breast tumors.Am J Clin Pathol. 1996; 107: 177-186Google Scholar). Most patients (n = 42) had non-Hodgkin’s lymphoma, and only 3 women had granulocytic sarcoma. Breast tumors due to extramedullary acute lymphocytic leukemia are rare, and isolated breast relapse masquerading as gynecomastia in a man is, to the best of our knowledge, unreported.Differential diagnoses of bilateral gynecomastia include drugs, testicular or adrenal tumors that secrete estrogens or human chorionic gonadotropin, or a paraneoplastic syndrome in patients with carcinoma of the lung, liver, or kidney (4Braunstein G.D. Gynecomastia.NEJM. 1993; 328: 490-498Crossref PubMed Scopus (408) Google Scholar). Unilateral gynecomastia should be differentiated from other tumors of the breast, including carcinoma, neurofibroma, lymphangioma, dermoid cyst, and lipoma (4Braunstein G.D. Gynecomastia.NEJM. 1993; 328: 490-498Crossref PubMed Scopus (408) Google Scholar). Our patient was diagnosed with an isolated extramedullary relapse of acute lymphoblastic leukemia by biopsy of a breast mass while the bone marrow remained in morphological remission. Extramedullary manifestations of acute myeloid leukemia include chloroma, leukemia cutis, meningeal leukemia, or gum infiltration. Translocation t(8;21) is the major cytogenetic risk factor (1Byrd J.C. Weiss R.B. Arthur D.C. et al.Extramedullary leukemia adversely affects hematologic complete remission rate and overall survival in patients with t(8;21)(q22;q22) results from Cancer and Leukemia Group B 8461.J Clin Oncol. 1997; 15: 466-475PubMed Google Scholar), and the neural cell adhesion molecule CD56 is frequently expressed in acute myeloid leukemia with t(8;21). CD56, which has a homophilic binding property, is expressed in a variety of tissues, and may partly account for the high incidence of extramedullary leukemia in acute myeloid leukemia with t(8;21) (1Byrd J.C. Weiss R.B. Arthur D.C. et al.Extramedullary leukemia adversely affects hematologic complete remission rate and overall survival in patients with t(8;21)(q22;q22) results from Cancer and Leukemia Group B 8461.J Clin Oncol. 1997; 15: 466-475PubMed Google Scholar). In acute lymphoblastic leukemia, however, most extramedullary relapses occur in sequestered sites (eg, the testis and the central nervous system). A 23-year-old man with a T-lineage acute lymphoblastic leukemia (initial leukocyte count, 260 × 109/L; bone marrow, 92% blast cells with normal karyotype) attained complete remission after standard treatment (2Hoelzer D. Thiel E. Loffler H. et al.Prognostic factors in a multi-center study for treatment of acute lymphoblastic leukemia in adults.Blood. 1988; 71: 123-131PubMed Google Scholar). Eighteen months later, while on maintenance therapy, he developed a progressive, painless right breast lump (Figure 1) without discharge. Physical examination revealed a nontender breast mass measuring 2 cm in diameter, normal testes, normal secondary sexual characteristics, and no peripheral lymphadenopathy. Serum levels of testosterone, estrogen, β-human chorionic gonadotropin, prolactin, creatinine, albumin, and aminotransferases were normal. A biopsy specimen of the breast lump showed heavy infiltration by diffuse sheets of small-to-medium sized lymphoid cells, with frequent mitosis and apoptosis (Figure 2). The abnormal lymphoid cells were immunoreactive for CD3 terminal deoxynucleotidyl transferase, but negative for CD20, CD56, myeloperoxidase, and cytokeratin. Bone marrow aspirate and biopsy specimens showed normal bone marrow with only 1% blast cells. He was diagnosed with isolated extramedullary relapse of leukemia in the breast. He achieved a second complete remission after treatment with high-dose cytarabine and local irradiation (36 Gy). Six months later, he developed multiple cranial nerve palsies with ophthalmoplegia and ptosis. Lumbar puncture confirmed central nervous system relapse. He received both systemic and intrathecal chemotherapy, but died of progressive disease 7 months after the relapse of leukemia in the breast. In a survey of malignant hematopoietic breast tumors spanning 43 years in a single institution, 45 patients were identified (3Lin Y. Govindan R. Hess J.L. Malignant hematopoietic breast tumors.Am J Clin Pathol. 1996; 107: 177-186Google Scholar). Most patients (n = 42) had non-Hodgkin’s lymphoma, and only 3 women had granulocytic sarcoma. Breast tumors due to extramedullary acute lymphocytic leukemia are rare, and isolated breast relapse masquerading as gynecomastia in a man is, to the best of our knowledge, unreported. Differential diagnoses of bilateral gynecomastia include drugs, testicular or adrenal tumors that secrete estrogens or human chorionic gonadotropin, or a paraneoplastic syndrome in patients with carcinoma of the lung, liver, or kidney (4Braunstein G.D. Gynecomastia.NEJM. 1993; 328: 490-498Crossref PubMed Scopus (408) Google Scholar). Unilateral gynecomastia should be differentiated from other tumors of the breast, including carcinoma, neurofibroma, lymphangioma, dermoid cyst, and lipoma (4Braunstein G.D. Gynecomastia.NEJM. 1993; 328: 490-498Crossref PubMed Scopus (408) Google Scholar). Our patient was diagnosed with an isolated extramedullary relapse of acute lymphoblastic leukemia by biopsy of a breast mass while the bone marrow remained in morphological remission." @default.
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• W2004573866 title "Isolated relapse of acute lymphoblastic leukemia in the breast masquerading as gynecomastia" @default.
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