Intravascular large B-cell lymphoma with hemophagocytic syndrome (Asian variant) in a Caucasian patient.

Intravascular lymphoma is an aggressive and extremely rare extranodal lymphoma with neoplastic lymphoid cells confined exclusively within intravascular spaces. The histopathologic findings are subtle due to the rarity of the neoplastic cells in blood vessels. Clinical presentations are non-specific and focal space-occupying lesions or lymphoadenopathy are always lacking. It is a diagnostic challenge. Secondary hemophagocytic syndrome is uncommon and is typically associated with infection, malignancy, and suppressed immune states. Intravascular lymphoma has a strong association with hemophagocytic syndrome in Asian patients, the so-called "Asian variant", but not in Western patients. We report a case of intravascular B-cell lymphoma in a Caucasian patient associated with secondary hemophagocytic syndrome. The patient was diagnosed by core liver biopsy and successfully treated. This case demonstrates the importance of high index of suspicion and astute histopathologic examination in recognition of this unusual clinical and pathologic combination.

Successful management of gelatinous transformation of the bone marrow in anorexia nervosa with hematopoietic growth factors.

Serous atrophy or gelatinous transformation of the bone marrow (GMT), often seen with severe nutritional deprivation in Anorexia Nervosa (AN), is characterized by hypocellularity and patchy or diffuse replacement of the bone marrow with hyaluronic acid-like mucopolysaccharide material. Treatment with nutritional support alone is often temporary due to the relapsing nature of AN. We present the case of a patient with pancytopenia due to GMT who had multiple prior hospitalizations for infections and blood transfusions. Nutritional support was inadequate in restoring her bone marrow function. She was successfully treated with hematopoietic growth factors and achieved a sustained hematopoietic recovery. In addition, use of growth factors resulted in a 91% reduction in the cost of health care delivered to this patient.

A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0).

No chromosomal rearrangements have been identified as specifically associated with minimally differentiated acute myeloid leukemia (AML-M0). Several research groups studied the cytogenetic features of AML-M0 and found that as much as 81% of patients with AML-M0 had chromosomal rearrangements; primarily -5/5q- and/or -7/7q- deletions or translocations involving 12p. A patient, who was diagnosed with AML-M0 eighteen months ago, was referred for cytogenetic evaluation for possible AML relapse. A subtle, cryptic t(5;9)(q35.3;q34.3), plus a deletion of the RB1 gene were detected in 18 out of 20 cells analyzed by FISH utilizing the TelVysion assay kit. To rule out the possibility that these chromosomal changes were related to the relapse of AML in this case, we repeated the same FISH test on the specimen at initial diagnosis before any treatment. The same abnormalities were found. To our knowledge, this is the first case reported with subtelomeric t(5;9)(q35.3;q34.3) and the deletion of the RB1 gene in a patient with AML-M0. Whether the t(5;9) combined with the deletion of the RB1 gene plays an important role in the development of AML-M0 warrants further investigation.

A variant t(8;10;21) in a patient with pathological features mimicking atypical chronic myeloid leukemia.

We report the case of an 11-year-old girl who was initially diagnosed with a chronic myeloproliferative disorder, possibly chronic myelogenous leukemia (CML), based on laboratory and blood and marrow morphological findings. The patient's high leukocyte count did not respond to hydroxyurea, a standard initial therapy for CML. Chromosomal analysis revealed that the patient did not have t(9;22), but a complex t(8;10;21)(q22;q24;q22), a variant of t(8;21). The treatment regime was switched to an acute myeloid leukemia (AML) protocol; the patient responded well and is now in remission. This case demonstrates again that routine clinical cytogenetic analysis plays an important role in the clinical diagnosis, guidance of treatment, and prognostication in hematological disorders.

Identification of t(15;17) and a segmental duplication of chromosome 11q23 in a patient with acute myeloblastic leukemia M2.

A 32-year-old man was newly diagnosed with acute myelocytic leukemia, classified as acute myeloblastic leukemia with maturation (AML-M2) according to the French-American-British classification system. Conventional chromosome analysis before chemotherapy treatment revealed an abnormal karyotype: a possible segmental duplication of 11q23, plus a translocation between chromosomes 15 and 17 [t(15;17) (q22;q21.1)] in the majority of cells analyzed. Fluorescence in situ hybridization analysis using commercially available probes confirmed the cytogenetic findings. To our knowledge, this is the first report of a combination of t(15;17) and a segmental duplication of 11q23 in a patient with AML-M2.

Duplication 15q as the sole anomaly in an acute promyelocytic leukemia patient without t(15;17).

We present a unique chromosomal abnormality found in a patient with acute myeloblastic leukemia of French-American-British subtype M3. The patient was referred for an evaluation of a chromosomal anomaly exclusively associated with FAB M3 or acute promyelocytic leukemia: a translocation between chromosomes 15 and 17, t(15;17)(q22;q21.1). Neither t(15;17) nor rearrangement of RARalpha was detected by routine G-banded chromosome as well as fluorescence in situ hybridization analysis using the commercial dual-color PML/RARalpha translocation probe and the RARalpha probe, a break apart rearrangement dual-color probe. Instead of the typical rearrangement between chromosomes 15 and 17, all cells analyzed had a duplication of the segment of chromosome 15 between bands 15q15 and 15q26.