Mesenchymal hamartoma of the liver with inversion of chromosome 19.

ABSTRACT A mesenchymal hamartoma of the liver (MHL) from a 20-month-old girl was studied cytogenetically. The karyotype was 46,XX,inv(19)(p13q13.4)[38], and fluorescence in situ hybridization using bacterial artificial chromosome probes refined the breakpoints to 19p13.11 and the subtelomeric region of 19q. This is the first report of inversion (19) in MHL, and the q-arm breakpoint is different from that reported previously in other rearrangements.

Influence of cytogenetics in patients with relapsed or refractory multiple myeloma treated with lenalidomide plus dexamethasone: adverse effect of deletion 17p13.

Although the combination of lenalidomide and dexamethasone is effective therapy for patients with relapsed/refractory multiple myeloma, the influence of high-risk cytogenetic abnormalities on outcomes is unknown. This subanalysis of a large, open-label study investigated the effects of the most common unfavorable cytogenetic abnormalities detected by fluorescence in situ hybridization, del(13q), t(4;14), and del(17p13), in 130 evaluable patients treated with this regimen. Whereas patients with either del(13q) or t(4;14) experienced a median time to progression and overall survival comparable with those without these cytogenetic abnormalities, patients with del(17p13) had a significantly worse outcome, with a median time to progression of 2.22 months (hazard ratio, 2.82; P < .001) and median overall survival of 4.67 months (hazard ratio, 3.23; P < .001). Improved therapeutic strategies are required for this subgroup of patients. This study was registered at www.ClinicalTrials.gov as #NCT00179647.

Multiple lymphomatous diverticulosis and comorbid chronic lymphocytic leukemia: novel manifestations of ileocolic mantle cell lymphoma.

Mantle cell lymphoma (MCL) has tropism for the gastrointestinal tract (GIT) identifiable as multiple polyps and mass lesions throughout the GIT. We describe 2 novel manifestations of MCL. A 60-year-old woman with known chronic lymphocytic leukemia (CLL) had an exophytic mass of the appendiceal orifice. Multiple polypoid masses of the distal ileum were identified in the right hemicolectomy specimen (multiple lymphomatous polyposis). Ancillary studies confirmed the coexistence of the 2 independent lymphoproliferative disorders. A 69-year-old man had recurrent urinary tract infections and pneumatouria caused by a colovesicular fistula complicating diverticulosis coli. Segmental resections of the sigmoid and ileocecum confirmed diverticulosis of the left and right colon. Histology identified infiltrates of MCL confined to the penetrating aspects of colonic diverticula. MCL has not been documented to coexist with CLL. An invaginating morphology of lymphoma, multiple lymphomatous diverticulosis is also a novel presentation. These 2 scenarios expand MCL's known manifestations within the GIT.

Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma.

Hepatosplenic T-cell lymphoma is rare, and most cases that have been reported with cytogenetic abnormalities have an isochromosome 7q with or without trisomy 8. A 7-year-old boy who had hepatomegaly and splenomegaly was diagnosed with hepatosplenic T-cell lymphoma on the basis of a bone marrow biopsy. The karyotype of the lymphoma cells at diagnosis included a ring chromosome 7 and trisomy 8. Fluorescence in situ hybridization analysis with chromosome 7 probes demonstrated amplification of a 7q31 sequence in the ring chromosome. While isochromosome 7q is a common abnormality in hepatosplenic T-cell lymphoma, and other structurally abnormal chromosomes 7 have been reported in a small number of cases, this is the first reported case of ring chromosome in hepatosplenic T-cell lymphoma.

A case of Down syndrome with acute lymphoblastic leukemia and isochromosome Xp.

A 3-year, 9-month-old girl with trisomy 21 was diagnosed with acute lymphoblastic leukemia (ALL). The karyotype of her leukemic cells at diagnosis-48,XX,+i(X)(p10),+21c-included an extra, structurally abnormal X chromosome as the sole acquired abnormality. While an extra X chromosome is a common abnormality in childhood ALL, it is seldom the only acquired aberration. Furthermore, an additional X chromosome that is structurally abnormal is rare, and has not been reported previously as a solitary abnormality. Here we report a novel karyotype in childhood ALL and review the eight previously described cases of ALL with an extra X isochromosome as the only acquired abnormality.

Transient myelodysplastic syndrome associated with isochromosome 7q abnormality.

Myelodysplastic syndrome (MDS) in childhood is a rare hematological condition that is often associated with cytogenetic abnormalities, the most common being monosomy 7/del(7q). The clinical course of MDS can vary from stable disease to rapid progression into acute leukemia. Rarely, spontaneous remission of MDS has been observed. The authors report the first case of a transient MDS associated with a clonal marrow cytogenetic abnormality consisting of isochromosome 7q in a previously well child. Without intervention, the bone marrow cytogenetics reverted to normal and there was complete hematologic recovery. This case illustrates the importance of close follow-up in a child presenting with MDS, to detect spontaneous recovery or evolution of the disease.