-

-

-

N/A

57 yrs

F

-

-

Scattered, mildly enlarged nodes (axilla, mediastinum, retroperitoneum and pelvis).

-

34.1; Absolute lymphocyte count = 28,244 x 10⁹/L. The lymphocytes were small and mature in appearance. Rare (less than 1%) prolymphocytes were present.

13.2

187

0

Variably cellular, areas of aplasia alternating with areas of residual hematopoiesis with 40% cellularity. The cellular areas show an interstitial lymphoid infiltrate comprised of small mature appearing lymphocytes with rare prolymphocytes. No clusters of large lymphocytes are present. No evidence of large cell or prolymphocytic transformation.

Chronic lymphocytic leukemia/Small lymphocytic lymphoma.

Bone marrow 05/09/07: CD5+, CD19+, CD20+(dim), CD22+(very dim), CD23+, CD38+, HLA-DR+, surface lambda+(dim), ZAP-70+, CD10-. Matutes score =4 of 5.

See bone marrow above.

Not performed.

Chronic lymphocytic leukemia/Small lymphocytic lymphoma.

06-2005; Original diagnosis made by flow cytometric analysis of peripheral blood on 06/2005. First bone marrow with cytogenetic analysis performed on 05/2007.

None to date

N/A

-

N/A

A

04-2007

Bone marrow

24, 48 and 72 hours

GTW (G-banding by Trypsin treatment followed by Wright stain).

46,XX,t(8;10)(p21;q22)c[16]/46,idem,t(1;14;6)(q21;q32;p21),-6,-12,+1-2mar [4]

N/A

Fluorescence In Situ Hybridization (FISH) using Vysis LSI IGH break apart (Cat # 32-191019) on the mataphases, CLL I probe set (LSI ATM/p53) and CLL II probe sets (CEP 12/CEP13q14.3/CEP13q34 probes) (Cat # 32-191025) on interphase nuclei.

2. FISH analysis (Fig. 4) of IGH break-apart probe on G-banded metaphases (Fig. 1) showed the complex translocation, t(1;14;6)(q21;q32;p21). The LSI IgH 3 flanking region (250 kb) is labeled with Spectrum Orange and LSI IgH V 5 region (900 kb) is labeled with Spectrum Green. A normal fusion signal is seen on chromosome 14. A translocation between 14q32 and 6p21 led to the IgH signal being split with der(14) retaining the IgH 3 flanking region (red) and translocation of 5 IgH V region (green) to der (6). Subsequent complex translocations involving chromosomes 1, 14 and 6 are evident by der(14) and der (1) harboring the 1q and 6p regions, respectively.

FISH studies on metaphases using LSI IGH break apart probes.

FISH analysis confirmed the t(1;14;6)(q21;q32;p21).

N/A

CLL is primarily a B-cell disease represented with the following anomalies; +12, del(11q) and del(17p). Cases of CLL with 14q32 (IGH) rearrangements have been reported. We present here a unique case of CLL showing a variant CCND3:IGH rearrangement in the form of t(1;14;6)(q21;q32;p21). The loss of 6q (indicated by -6) has been reported in CLL. Exact significance of monosomy 12 is not known. Interphase FISH showed del(13)(q34) in 10% cells, the significance of which is not known (Fig 3). Metaphase FISH performed with the LSI IGH break apart probe confirmed the t(1;14;6) (Fig 4).This case does not show the common deletions ( 6q, 13q14.3, 11q22-23 or 17p13) or amplification (trisomy 12).

Siddharth G Adhvaryu, Ph.D., FACMG, Clinical and Molecular Cytogenetics Laboratory, Department of Pathology, University of Texas Health Science Center at San Antonio, San Antonio, Texas-78229, USA; Corresponding Author: Dr Siddharth G Adhvaryu; E mail: ADHVARYU@UTHSCSA.EDU .