4;11 translocation in acute lymphoblastic leukemia: A specific syndrome

Three patients with acute lymphoblastic leukemia (ALL) having t(4;11) (q21;q23) are described. Their clinical characteristics are compared with ten other published cases all involving similar histories and poor prognoses.     

5q- syndrome in a patient with chronic exposure to ionizing radiation

A report is presented on an interstitial deletion of the long arm of chromosome #5(5q-), associated with refractory anemia in a patient who had been exposed to chronic ionizing radiation. Six years of follow-up did not disclose any evolution toward leukemia.     

An unusual translocation, t(3;8), and deletion of chromosome 21 in acute myeloid leukemia

This report describes a case of acute myeloid leukemia (AML) in which there was an unusual karyotypic abnormality involving chromosomes #3, #8, and #21. The clinical and hematologic features are described and cytogenetic findings are discussed in relation to previously reported variants of the translocation t(8;21) in AML. The breakpoint at 8q22 is a consistent feature in these cases.     

A variant 15;17 translocation in a patient with acute promyelocytic leukemia

We report a 36-year-old male with typical features of acute promyelocytic leukemia (APL) in whom a new variant 15;17 translocation, t(8p+;17q-), was found. Using G- and Q- banding techniques, the chromosome breaks were found to be near the junction of 8p12 and 8p21 and band 17q12, respectively. The breakpoint on 17q in our case was similar to that in previously described cases with a standard translocation (15;17). Consequently, this chromosome break or rearrangement at band 17q12, rather than the recipient site of translocation of the deleted material, appears to be of crucial importance in the genesis of APL.     

Major karyotype aberrations, including t(3;12), in a patient with myelodysplastic syndrome

Cytogenetic analysis of bone marrow cells was performed twice on a patient with myelodysplastic syndrome, specifically, refractory anemia with excess blasts. The patient had a progressive course, with transformation toward acute leukemia and death within 3 months. Chromosome analysis showed major karyotype abnormalities, including dir dup (1p), t(3;12), and a unique breakage of a #15 resulting in t(15;18) and dic(15;21). Involvement of #3 and #12 in a translocation has been recently reported, and a comparison with these cases is made with a discussion of the significance.     

A complex translocation in acute promyelocytic leukemia

The breakpoints of a complex three-way translocation involving chromosomes X, #15, and #17 were resolved in a case of acute promyelocytic leukemia (APL). It is now apparent that similar cases of variant chromosome translocations are found in both chronic granulocytic leukemia (CGL) and APL. The morphological and clinical findings in this case emphasize the variability found in some cases of APL.     

Immunoblastic lymphoma following Hodgkin's disease: a case report with translocation t(8;14) in tumoral cells and sporadic t(7;14) in peripheral lymphocytes

A non-Hodgkin's lymphoma was observed in a patient who had been treated for Hodgkin's disease (HD). The initial treatment consisted of radiotherapy alone, but following three subsequent relapses, both chemotherapy and radiotherapy were administered several times. Twenty years later, the biopsy of an isolated cervical lymph node revealed a non-Hodgkin's lymphoma. The histologic subtype was immunoblastic. Cytogenetic studies of the tumoral cells revealed a t(8;14)(q24;q32) translocation. At the same time, multiple chromosomal rearrangements were observed in peripheral blood lymphocytes, especially t(7;14)(q35;q12), which was noted in 6 of 53 mitoses. This anomaly, frequently observed in patients with ataxia telangiectasia or severe immunodeficiency, has not previously been described in such circumstances.     

Ph1-positive acute leukemia with a 17q;21q translocation

Chromosome studies on the neoplastic cells of an adult patient with poorly differentiated acute leukemia revealed two Ph¹-positive subpopulations, with and without a 17q;21q (q22;q22) translocation. The breakpoints appeared to be the same as in the 8;21 and 15;17 translocations of acute mytelogenous leukemia (AML) and acute promyelocytic leukemia (APL), emphasizing the significance of rearrangements involving these sites in the pathogenesis of acute leukemia. Terminally, there was clonal evolution, with the new predominant subline having an additional translocation, 1q;19q, resulting in trisomy for most of 1q and, apparently, additional selective advantage.     

Chronic myelogenous leukemia with a complex translocation

A case of Philadelphia chromosome (Ph¹)-positive chronic myelogenous leukemia (CML) with a complex translocation involving chromosomes #3, #9, and #22 is described. All cells in the bone marrow showed this rearrangement and Q-banding analysis showed the karyotype to be 46, XX, t(3;9;22) (p21;q34;q11). This is the third reported case of a 3/9/22 rearrangement in the Ph¹-positive CML in which the break points and direction of transposition of chromosome segments are identical.     

North American Burkitt-type ALL with a variant translocation t(8;22)

A variant translocation, t(8;22) (q24;q12), was found in bone marrow (BM) and long-term cultured peripheral blood (PB) cells obtained from an American boy with Burkitt-type acute lymphoblastic leukemia (ALL-L3, French-American-British classification). Surface marker studies revealed a monoclonal immunoglobulin A (sIgA) with a lambda chain (74%) on the PB cells in a sample containing 74% blast cells. A table summarizing the cases with variant translocations in Burkitt diseases [Burkitt lymphoma (BL) and ALL-L3] is presented, and review of the published data indicates that, generally, the survival of patients with t(8;22)-type BL and ALL-L3 is short and comparable to that of patients with the more common translocation, t(8;14). There appears to be no relationship between t(2;8) or t(8;22) and a specific heavychain sIg. The karyotypes of the BM cells and those of the long-term cultured PB cells, though retaining t(8;22), differed from each other. Chromosomal analyses using cells from long-term culture may reveal karyotypic changes in addition to those seen on direct analysis. The key karyotypic anomaly in Burkitt-type diseases appears to be the breakage of chromosome #8 at band q24.     

A possible specific chromosome marker for monocytic leukemia: three more patients with t(9;11)(p22;q24) and another with t(11;17)(q24;q21), each with acute monoblastic leukemia

An apparently balanced 9;11 reciprocal translocation with break points most likely at 9p22 and 11q24 was found in 3 patients with acute monocytic leukemia [M5 in the French-American-British (FAB) classification schema]. This translocation was not observed in 6 other patients with M5 acute nonlymphocytic leukemia (ANLL) or in chromosome studies on 143 patients with other types of ANLL. This study supports the previously published suggestion that such 9;11 translocations may be associated with some patients with M5 ANLL. In this report, we have also included a patient with M5 ANLL who had an 11;17 translocation with break points apparently at 11q24 and 17q21. Perhaps this is a variant translocation of chromosome No. 11, which may also be associated with monocytic leukemia.     

Chromosomal abnormalities of a mediastinal embryonal cell carcinoma in a patient with 47,XXY Klinefelter syndrome: evidence for the premeiotic origin of a germ cell tumor

Trypsin-Giemsa banding studies were performed on 30 tumor cells from an embryonal cell carcinoma originating in the mediastinum of an 18-year-old male with the Klinefelter syndrome (47,XXY). All tumor cells revealed an XXY chromosomal pattern with the addition of extra chromosomes. Electrophoretic patterns of the patient's red blood cells and tumor cells were identical. These data suggest that this germ cell tumor originated from a primordial germ cell in which oncogenesis had occurred prior to meiotic division.     

Congenital acute lymphoblastic leukemia with chromosomal abnormalities including a translocation (1;4;22)

Cytogenetic studies in a patient with inborn ALL demonstrated identical and complex abnormalities in all the cells, indicating a monoclonal origin. These abnormalities included, among others, a translocation (1;4;22).     

Translocation (9;11)(p21;q23) in a case of acute myeloblastic leukemia (AML-M2)

A patient with acute myeloblastic leukemia (AML-M2) and a balanced translocation, t(9;11)(p21;q23), is described. The translocation appears to be the same as that previously reported in some patients with acute monoblastic leukemia (AMoL-M5). This suggests that, although t(9;11)(p21;q23) frequently may be associated with AMoL, the translocation may not be specific for that disorder.     

Renal involvement by histiocytic medullary reticulosis

The case of a young man who died seven months after the diagnosis of histiocytic medullary reticulosis is reported. Autopsy and laboratory findings were consistent with a diagnosis of uremia. Liver, lymph nodes, spleen, and bone marrow were involved by neoplastic cells. In addition, the kidneys were massively involved by tumor. Previously published autopsy studies of this rare condition failed to demonstrate massive renal involvement.     

Unusual translocations t(2;6) and t(?;22) in a child with acute myelocytic leukemia

A 13-month-old female with middle and upper lobe pneumonia showed a high WBC count with 99% blasts. From hematologic studies the condition was diagnosed as acute myelocytic leukemia (AML). In spite of aggressive chemotherapy, the patient died. Unstimulated peripheral blood culture and bone marrow cells revealed a translocation between a chromosome #2 and #6. An interstitial segment of 2q had been translocated to 6p. A chromosome #22 was also abnormal, having acquired a dark band around the long arm.     

Multiple myeloma terminating in acute eosinophilic leukemia

A 71-year-old woman with multiple myeloma was successfully managed for 8 years with melphalan (total dose 2056 mg). She developed a refractory anemia (myelodysplastic state), which terminated in acute eosinophilic leukemia. This form of acute leukemia, induced by chemotherapy, appears to be very rare. The cytogenetic changes, including 5q- and monosomy 7, were similar to those observed in other patients with acute nonlymphocytic leukemia as a secondary malignancy following treatments of other primary tumors.     

A direct bone marrow chromosome technique for acute lymphoblastic leukemia

We describe a direct bone marrow chromosome technique that was developed especially for use in studies of acute lymphoblastic leukemia (ALL). The features responsible for technical improvements include: the use of RPMI 1640 medium, supplemented with 30% fetal calf serum, to support cellular activity during both specimen transport and Colcemid treatment; the processing of only 0.1 ml of sedimented cells or less per centrifuge tube; the exposure of cells to Colcemid for a maximum of 25 min; control of the total time of exposure to hypotonic solution; the use of a steel wire as a stirring rod (fashioned to fit the centrifuge tube) for mixing cells; slide preparation by a specific edging-flaming technique; the natural aging of the slides to achieve optimal drying; and the use of a modified G-banding procedure that employs Wright's stain. This technique has been used in more than 350 cases of ALL and has consistently provided analyzable banded chromosomes, even in hyperdiploid cases with up to 91 chromosomes. It makes the previously recognized morphological difference between metaphases of residual normal cells and those from the leukemic clone less apparent. The edging-flaming technique of slide preparation is the most important component and is especially appropriate for spreading large numbers of chromosomes in ALL.     

Chronic myelogenous leukemia with a complex Ph1 translocation in an XYY male

We encountered a 38-year-old Japanese male patient with chronic myelogenous leukemia (CML), whose bone marrow and peripheral blood cells during the chronic and blastic phases contained a complex Ph¹ translocation and an extra Y chromosome [i.e., 47,XYY,t(9;22;13)(q34;q11;q14)]. A karyotypic analysis of PHA-stimulated lymphocytes showed the constitutional karyotype to be 47,XYY. Thus, it was considered that CML with a complex Ph¹ translocation developed in an XYY male; such a case has not been reported, so far. A B-lymphocyte cell line with the complex Ph¹ translocation was established by the procedure of Epstein-Barr virus transformation. The presence of the complex Ph¹ translocation in the B-lymphocyte cell line suggests that some of the B lymphocytes in this patient originated from the CML clone.     

Squamous cell carcinoma of the breast: a clinicopathologic analysis of eight cases and review of the literature

Malignant neoplasms of the female breast composed of squamous cells are rare and constitute a particularly poorly understood facet of breast disease. Two pure squamous cell carcinomas ( SCCs ) of the breast and six tumors that displayed various combinations of malignant squamous elements and ductal breast adenocarcinoma were identified. Electron microscopy confirmed the diagnosis of SCC in two cases by the demonstration of regularly spaced desmosomes, tonofilament bundles, and keratohyaline granules. A review of the literature indicated that breast cancers with components of SCC are histologically variable. Approximately 30 cases of pure SCC and 80 cases of mixed adenocarcinoma and SCC (adeno-SCC) have been reported. Some of these squamous epithelium-containing tumors have displayed areas of cyst formation, spindle cell metaplasia, and pseudosarcomatous desmoplastic response, or origins in preexisting breast lesions, such as cystosarcoma phyllodes or dermoid cysts. Although this variability indicates a heterogeneous group of neoplasms, the overall prognosis for carcinomas of the breast with malignant squamous elements appears to be quite similar to that for ordinary breast adenocarcinomas of similar size and stage.