Pentasomy 8 in acute monoblastic leukemia

We report a case of pentasomy of chromosome 8 in 30-year-old man with de novo acute monoblastic leukemia (FAB AML M5a).     

Congenital monoblastic leukemia with 9;11 translocation in monozygotic twins : a case report.

We report an autopsy case of congenital monoblastic leukemia that developed in monozygotic twins. The twin presented with progressive hepatosplenomegaly at 4 weeks after birth. One twin died of massive bleeding and hypovolemic shock before the treatment started. At autopsy, the liver was diffusely enlarged and showed a diffuse whitish discoloration except for the subcapsular and perivenular areas. Microscopic examination disclosed infiltration of histiocyte-like atypical cells along the sinusoids and portal areas of the liver. Spleen, lymph nodes and choroid plexus were also infiltrated by the tumor cells. However, bone marrow involvement of the tumor was minimal although multifocal. On immunohistochemical staining, these atypical cells were reactive for CD68 (PGM-1) and lysozyme, suggesting that the tumor cells might have been derived from mono- histiocyte. Cytogenetic study revealed 9;11 translocation, which is frequently associated with acute monoblastic leukemia. To the best of our knowledge, this is the first report of congenital monoblastic leukemia of monozygotic twins in Korea.     

Male infertility associated with a unique 8;22 translocation.

Proper evaluation of male infertility includes a careful history, physical examination, semen analysis, and karyotyping. Molecular cytogenetic analysis may also be necessary to further delineate the karyotype. Following the above approach, we found an apparently unique 8;22 translocation in a male patient with infertility but few other phenotypic manifestations. Delineating the exact genetic basis of infertility is important in view of the most recent advances in reproductive technology such as in vitro fertilization and intracytoplasmic sperm injection. Patients utilizing these emerging techniques need to be properly counseled as to their risks of transmitting these chromosomal abnormalities to their offspring.     

Translocation (16;21)(p11;q22) in acute monoblastic leukemia with erythrophagocytosis

A patient with acute monoblastic leukemia with erythrophagocytosis and a t(16;21) (p11;q22), poor response to chemotherapy, early relapse, and a short survival of ten months is presented. Hematologically, this patient could be considered as a case of FAB M5b/t(8;16) but without the characteristic chromosomal translocation, i.e., there is no visible alteration on chromosome 8 and the breakpoint on chromosome 16 appears to be very proximal. These findings are briefly discussed in the light of other variants.     

Secondary leukemia with a translocation (8;21)?

The clinical features and cytogenetic changes of acute myeloid leukemia (AML) developing 10 years after radiotherapy and chemotherapy (for osteosarcoma) are described. Features of both de novo AML [FAB M2 morphology, t(8;21), and "secondary leukemia" (additional cytogenetic changes, resistance to chemotherapy) were present. The importance of differentiation between primary and "therapy-linked" disease, and the difficulties in making such a distinction, are discussed.     

X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+)

A family demonstrating short arm deletion of the X chromosome as a consequence of X-16 balanced translocation in the mother is reported. The two Xp- sisters exhibit clinical signs of gonadal dysgenesis, while the balanced carriers are phenotypically normal. To our knowledge this represents the only example of both the balanced carrier state for an X translocation and its genetic consequence occurring in the offspring, as well as the involvement of X-16 interchange. Literature data of 37 additional cases of verified X translocations are discussed.     

Childhood acute lymphoblastic leukemia associated with an unusual 8;14 translocation

An elderly woman had dysmyelopoietic syndrome with a rapidly fatal course. On initial marrow and unstimulated blood cell examination a structural anomaly of the X chromosome was observed with a 46,X,idic(X)(q13) karyotype with the exception of two cells showing a 47,XXX karyotype. Peripheral blood lymphocytes showed a normal 46,XX karyotype. The specificity of these findings is discussed.     

Infant acute lymphoblastic leukemia with t(11;16)(q23;p13.3) and lineage switch into acute monoblastic leukemia

Rearrangements of the mixed-lineage leukemia (MLL) gene have been associated with a poor prognosis in infant acute lymphoblastic leukemia (ALL). Previously, MLL translocations involving the CREP-binding protein (CREBBP) gene at chromosome band 16p13.3 have primarily been reported in treatment-related acute myeloid leukemia, after chemotherapy for other primary malignancies using topoisomerase II inhibitors. We report a case of de novo infant ALL with t(11;16)(q23;p13.3). After chemotherapy, this patient developed an acute monoblastic leukemia (M5b) with retention of the t(11;16)(q23;p13.3), indicating that this is a lineage switch of the original leukemic clone. To our knowledge, these findings have not been previously reported.     

A unique, complex variant philadelphia chromosome translocation in a patient with typical chronic myelogenous leukemia

The Philadelphia (Ph) chromosome [der(22) t(9;22)(q34;q11)] is the characteristic chromosomal abnormality found in chronic myelogenous leukemia (CML). This chromosome has been reported in patients with other chromosomal abnormalities. In this study, we describe a patient with hematologically typical chronic-phase CML with an unusual and complex translocation involving chromosomes 9, 11, and 22. These complex translocations were identified by G-banded conventional cytogenetics and confirmed by fluorescence in situ hybridization (FISH) using whole chromosome painting probes (wcp). To the best of our knowledge, these are unique translocations involving the short and the long arms of chromosome 9 in 4 different translocations with the short arm of chromosome 11 and the long arm of chromosome 22.     

t(8;21)儿童急性髓细胞性白血病临床和生物学特征

目的了解儿童t(8;21)急性髓细胞白血病(acute myeloid leukemia, AML)的临床和生物学特征.方法对41例儿童t(8;21)AML作了回顾性分析,取同期诊治的19例t(8;21)阴性AML作为对照组.分析临床、形态学、染色体、免疫表型和分子生物学等资料.结果本组t(8;21)AML占同期连续的60例儿童急性AML的68.3%,其中典型易位29例、变异易位2例、单纯8q-各2例、t(8;21)为特征的近四倍体2例和隐匿易位6例.37例(80.4%)为M2型AML,大多有下述形态学改变白血病细胞有核凹陷、近核浅染区、胞浆嗜碱性、伴有成熟分化和核浆发育不平衡等;有CD13高表达抗原;绘逆转录-聚合酶链反应检测的23例均检出AML1/ETO融合基因转录本,包括正常核型的6例;t(8;21) AML与对照组相比,完全缓解率差异无显著性(82.4% vs 75%,P>0.05),但复发率的差异有显著性(10.7% vs 41.7%,P<0.05).结论 t(8;21) AML是儿童AML中最常见的类型,主要和M2型有关,具有独特的形态学、免疫学和临床特征.     

Translocation (8;18;16)(p11;q21;p13). A new variant of t(8;16)(p11;p13) in acute monoblastic leukemia: case report and review of the literature

A complex three-way t(8;18;16)(p11;q21;p13) was detected in a 15-month-old patient with acute myeloid leukemia (AML). The patient had typical clinical manifestation and bone marrow features of AML subtype M5b associated with t(8;16)(p11;p13). Therefore, we believe that the t(8;18;16) is a new variant of t(8;16) related to AML M4/M5. We also review other t(8;16)(p11;p13) variants reported in the literature.     

Acute monoblastic leukemia (FAB-M5b) with t(8;14)(p11;q11.1).

A case of acute monocytic leukemia (FAB-M5b) expressing natural killer cell-associated antigens containing a t(8;14)(p11;q11.1) is presented. We interpret this translocation to represent a variant of the t(8;16) previously reported in FAB-M5b. These findings support the contention that the 8p11 breakpoint site is the critical junction in the oncogenesis of acute monoblastic leukemia with differentiation.     

Chondrosarcoma‐like metastasis from a poorly differentiated uterine cervical squamous cell carcinoma. A unique morphology and diagnostic pitfall in cytology

Rare cases of metastatic squamous cell carcinoma with chondroid differentiation from esophageal primary have been reported but none from the uterine cervix. Given the rarity of this phenomenon and potential diagnostic pitfall, we present this unusual case. The patient is a 25‐year‐old woman who presented with shortness of breath. Computerized tomography (CT) showed several lung and pleural‐based nodules. CT‐guided core biopsy with touch preparations were performed on the pleural‐based nodule. The touch preparations showed large, spindle‐to‐oval shaped cells with pleomorphic nuclei embedded in metachromatic chondroid stroma. The core biopsies also showed predominantly round‐to‐spindle shaped cells with hyperchromatic nuclei and prominent nucleoli embedded in a cartilaginous matrix. Her past medical history is significant for a poorly differentiated squamous cell carcinoma of the cervix, which on review showed a typical non‐keratinizing squamous cell carcinoma without sarcomatous differentiation. Immunohistochemical stains performed on the pleural‐based mass showed tumor positivity for AE1/AE3, CK5/6, p16, and S‐100. Similar results were seen when the cervical tumor was stained retrospectively. Human papilloma virus (HPV) in situ hybridization performed on both the pleural‐based mass and cervical tumor detected the presence of high‐risk HPV subtypes including 16 and 18. These findings supported a lung metastasis from the prior cervical carcinoma. This case emphasizes that cervical carcinoma can develop mesenchymal (chondrosarcomatous) differentiation in metastasis even in tumors presenting with pure epithelial phenotype. Awareness of this occurrence especially on limited cytology material, knowledge of the prior history and use of ancillary tests are extremely helpful in arriving at the correct diagnosis. Diagn. Cytopathol. 2017;45:750–753. © 2017 Wiley Periodicals, Inc.