Value of Interphase FISH for the Diagnosis of t(11;14)(q13;q32) on Skin Lesions of Mantle Cell Lymphoma

Pierre Dubus, MD, PhD, Paul Young, MD, Marie Beylot-Barry, MD, PhD, Marc A. Belaud-Rotureau, PhD, Philippe Courville, MD, Béatrice Vergier, MD, PhD, Marie Parrens, MD, Bernard Lenormand, MD, PhD, Pascal Joly, MD, PhD, Jean P. Merlio, MD, PhD

Disclosures

Am J Clin Pathol. 2002;118(6) 

In This Article

Case Reports

A 56-year-old man had a 2-year history of recurrent pruriginous and erythematous papules of the back. He was referred to the dermatology department for recurrence of skin lesions and general lymphadenopathy, but there were no B symptoms. Erythematous papules involved the sternal region, the left submammary region, and the right shoulder (Figure 1A). Laboratory tests showed normal lactate dehydrogenase (LDH) levels and the blood cell count was normal. MCL was diagnosed in skin and lymph node specimens. A bone marrow biopsy showed partial infiltration with 10% of atypical lymphocytes on smears. Staging did not show visceral involvement. He was treated by 6 courses of CHOP (cyclophosphamide, doxorubicin [hydroxydaunomycin], vincristine [Oncovin], and prednisone) leading to partial regression of skin lesions and adenopathies but with persistent bone marrow infiltration. Then, he received the DEXA-BEAM regimen (dexamethasone, carmustine [BCNU], etoposide, cytarabine [Ara-C], and melphalan) and a graft of allogeneic bone marrow stem cells. He was in complete remission for 1 year but died suddenly of meningeal hemorrhage.

(A), Clinical and histopathologic features of skin involvement by mantle cell lymphoma. (Case 1), Infiltrated erythematous papules on front of thorax.

(B), Clinical and histopathologic features of skin involvement by mantle cell lymphoma. (Case 2), Diffuse eruption of the trunk composed of small purpuric macules and papules.

(C), Clinical and histopathologic features of skin involvement by mantle cell lymphoma. (Case 1), Perivascular and appendageal involvement by monotonous small lymphoid cells (H&E, x200).

(D), Clinical and histopathologic features of skin involvement by mantle cell lymphoma. (Case 1), Voluminous nodule in the deep dermis with atrophic germinal center outlined by dendritic cells immunostaining for CD23 (immunoperoxidase, x200).

(E), Clinical and histopathologic features of skin involvement by mantle cell lymphoma. (Case 2), Moderate perivascular infiltration of the upper dermis (H&E, x200). Inset, Blastoid morphologic features, pleomorphic type, of lymphoid cells with irregular nuclei and immature chromatin (H&E, x1,000).

(F), Clinical and histopathologic features of skin involvement by mantle cell lymphoma. (Case 3), Diffuse infiltration of the deep dermis by monotonous small lymphoid cells showing centrocytic morphologic features (H&E, x400).

(G), Clinical and histopathologic features of skin involvement by mantle cell lymphoma. Clinical and histopathologic features of skin involvement by mantle cell lymphoma. (Case 1), Expression of CD5 by lymphoid cells of the deep dermis nodule (immunoperoxidase, x400).

(H), Clinical and histopathologic features of skin involvement by mantle cell lymphoma. (Case 3), Nuclear immunostaining for cyclin D1 of centrocytic cells with cleaved nuclei (immunoperoxidase, x1,000).

(I), Clinical and histopathologic features of skin involvement by mantle cell lymphoma, Interphase fluorescence in situ hybridization (FISH) pattern of normal nuclei with 2 red and 2 green signals (LSI IGH/CCND1 Dual Color, Dual Fusion Trans-location Probe [Adgenix, Voisins le Bretonneux, France], x1,000).

(J), Clinical and histopathologic features of skin involvement by mantle cell lymphoma, Interphase FISH pattern of nuclei with t(11;14) exhibiting 2 fusion signals in addition to 1 green and 1 red signal (LSI IGH/CCND1 Dual Color, Dual Fusion Translocation Probe, x1,000).

An 89-year-old man sought care because of infiltrated purpuric papules of the breast, back, and abdomen associated with a rapid alteration of his general condition and anorexia (Figure 1B). The physical examination revealed an adenopathy in the right axillary area. Laboratory tests showed a high LDH level at 446 U/L (reference range, <320 U/L), anemia (hemoglobin, 9 g/dL [90 g/L]), and the presence of 1,800/µL (1.8 x 109/L) atypical lymphocytes in the blood. We observed 23% of blasts with pleomorphic morphologic features on bone marrow smears. A cutaneous biopsy was performed on purpuric and infiltrated lesions of the abdomen, leading to the diagnosis of MCL. The patient died of cerebral and cardiovascular failure 5 days later.

A 72-year-old man had MCL involving lymph nodes, bone marrow, and tonsils. After 8 courses of CHOP, a complete response was obtained for 2 years. Then, the patient experienced a relapse with generalized lymphadenopathy and cutaneous deep infiltration of the face and the breast. Two subcutaneous nodules were detected, one on the left arm and the other in the right axillary area. Biopsies of the skin infiltration and of 1 subcutaneous nodule led to the diagnosis of MCL, as in lymph node and bone marrow specimens. Laboratory tests showed normal LDH levels. No blood involvement was detected by blood cell count or immunophenotyping by flow cytometry. The patient received the IVAD regimen (ifosfamide, etoposide [VePesid], doxorubicin [Adriamycin], and dexamethasone) followed by autologous peripheral stem cells graft. No recurrence had been observed by 1 year.

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