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JingChen Y, WenZhou X, Zeng ZM, YuZhou P, YuZhang X, Wang L. Generalised primary cutaneous anaplastic large cell lymphoma: A diagnostic challenge. Indian J Dermatol Venereol Leprol 2025; 0:1-3. [PMID: 40357965 DOI: 10.25259/ijdvl_1676_2024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2024] [Accepted: 01/20/2025] [Indexed: 05/15/2025]
Affiliation(s)
- Yan JingChen
- Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, China
| | - Xing WenZhou
- Department of Dermatology and Venereology, The Second People's Hospital of Liangshan Yi Autonomous Prefecture, Xichang, Sichuan, China
| | - Zhuo MaDang Zeng
- Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, China
| | - Pei YuZhou
- Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, China
| | - Xue YuZhang
- Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, China
| | - Lin Wang
- Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, China
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2
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Etesami I, Ansari MS, Pourgholi E, Heidari S, Rafati A, Bahramian S, Danaei B, Demokri S, Fazeli P, Memari H, Mirzaee Godarzee H, Sadeghi B, Vahabi SM. Drug- and Vaccine-Induced Cutaneous T-Cell Lymphoma: A Systematic Review of the Literature. J Skin Cancer 2025; 2025:3103865. [PMID: 40226161 PMCID: PMC11986929 DOI: 10.1155/jskc/3103865] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/05/2024] [Accepted: 02/13/2025] [Indexed: 04/15/2025] Open
Abstract
Cutaneous T-cell lymphomas (CTCLs) are a type of non-Hodgkin lymphoma that usually involves the skin. It has different subtypes including mycosis fungoides (MFs), Sézary syndrome (SS), primary cutaneous anaplastic large lymphoma (PC-ALCL), lymphomatoid papulosis (LyP), and subcutaneous panniculitis-like T-cell lymphoma (SPTCL). There are several reports of incidence, relapse, or progression of CTCLs by using specific drugs. We aim to identify drug- and vaccine-induced CTCL characteristics. A systematic search was conducted using MeSH terms/keywords: CTCL and drug-induced or drug-associated or vaccine-associated or vaccine induced through PubMed/Medline, Scopus, Web of Science, and Embase until May 10, 2024. Out of 14,031 papers, 60 articles were included, involving 71 patients with a mean age of 53.5 ± 17 years. Among them, 52.1% were male. Medications were categorized into four groups: conventional, biologics, small molecules, and vaccines. The most frequently reported medications in the first group were fingolimod (n = 8) and methotrexate (n = 7). Infliximab (n = 6) and etanercept (n = 5) were the most commonly reported biologics. Pfizer-BioNTech (n = 11) vaccine and JAK inhibitors (n = 3) were the most reported vaccine and small molecules. LyP (n = 17) was the most frequently reported type of CTCL, followed by PC-ALCL (n = 13), MF (n = 11), SS (n = 8), and SPTCL (n = 8). The most common underlying conditions were rheumatoid arthritis (n = 15) and multiple sclerosis (n = 10). Twenty patients (28%) experienced disease regression after discontinuing the drug, with a mean ± SD of 8.6 ± 8.8 weeks. In 14 patients (20%), chemotherapy and/or radiotherapy were initiated. Six patients passed away after being diagnosed with CTCL: two because of CTCL recurrence and four because of other complications. It is important recognizing CTCL as a possible, although rare, adverse effect of certain drugs and vaccines, and taking a history of vaccinations, especially COVID-19 vaccines, and immunosuppressive drugs such as fingolimod, TNF-a inhibitors, and methotrexate.
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Affiliation(s)
- Ifa Etesami
- Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
- Department of Dermatology, Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran
| | - Mahshid Sadat Ansari
- Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
| | - Elnaz Pourgholi
- Department of Dermatology, Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
| | - Sama Heidari
- Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
| | - Arezou Rafati
- Department of Medicine, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran
| | - Saeed Bahramian
- Department of Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
| | - Bardia Danaei
- Department of Medicine, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
| | - Sardar Demokri
- Department of Medicine, School of Medicine, Urmia University of Medical Sciences, Urmia, Iran
| | - Patrick Fazeli
- Division of Biology & Medicine, Brown University, Providence, Rhode Island, USA
| | - Huria Memari
- Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
| | - Hadis Mirzaee Godarzee
- Department of Medicine, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
| | - Bahar Sadeghi
- Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
| | - Seyed Mohammad Vahabi
- Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
- Department of Dermatology, Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran
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3
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Legala AR, Shoji MK, Kikkawa DO. Progressive Eyelid Lesions in a Woman With Essential Thrombocythemia. JAMA Ophthalmol 2025; 143:176-177. [PMID: 39666325 DOI: 10.1001/jamaophthalmol.2024.5304] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2024]
Abstract
A 75-year-old woman with a history of essential thrombocythemia presented with 3 months of progressively enlarging right upper eyelid lesions. Examination revealed a thickened eyelid margin, madarosis, and erythema with some tenderness to palpation but an otherwise normal ocular examination. What would you do next?
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Affiliation(s)
| | - Marissa K Shoji
- Shiley Eye Institute, Division of Oculofacial Plastic and Reconstructive Surgery, University of California San Diego, La Jolla
| | - Don O Kikkawa
- Shiley Eye Institute, Division of Oculofacial Plastic and Reconstructive Surgery, University of California San Diego, La Jolla
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4
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Turkowski Y, Konnikov N, Mahalingam M. p63 in primary cutaneous anaplastic large cell lymphoma. Int J Dermatol 2025; 64:411-412. [PMID: 38997815 DOI: 10.1111/ijd.17369] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/05/2024] [Revised: 06/17/2024] [Accepted: 06/27/2024] [Indexed: 07/14/2024]
Affiliation(s)
- Yana Turkowski
- Dermatology Section, Department of Medicine, VA Boston Healthcare System, Boston, MA, USA
| | - Nellie Konnikov
- Dermatology Section, Department of Medicine, VA Boston Healthcare System, Boston, MA, USA
- Department of Dermatology, Tufts University School of Medicine, Boston, MA, USA
| | - Meera Mahalingam
- Department of Dermatology, Tufts University School of Medicine, Boston, MA, USA
- Dermatopathology Section, Department of Pathology and Laboratory Medicine, VA-Integrated-Service-Network-1, West Roxbury, MA, USA
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5
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Cheng J, Wistinghausen B, Kirkorian AY. Pediatric Cutaneous T-Cell Neoplasms: Clinical and Pathological Features, Updated Classifications, and Critical Differential Diagnoses. Pediatr Dermatol 2025; 42:11-21. [PMID: 39491478 DOI: 10.1111/pde.15789] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/30/2024] [Revised: 08/28/2024] [Accepted: 10/01/2024] [Indexed: 11/05/2024]
Abstract
Cutaneous T-cell lymphoid neoplasms in childhood are exceedingly rare, presenting with a wide spectrum of clinical presentation and outcomes. Due to numerous clinical and pathological mimics, an integrated evaluation of clinical, histopathological, immunohistochemical, and molecular findings is critical for a diagnosis. Here, we review the clinical and pathological features, updated classifications, and critical differential diagnoses of cutaneous T-cell lymphoid neoplasms in children.
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Affiliation(s)
- Jinjun Cheng
- Department of Pathology and Laboratory Medicine, Children's National Hospital, Washington, DC, USA
- Centers for Cancer & Blood Disorders and Cancer & Immunology Research, Children's National Hospital, Washington, DC, USA
- The George Washington University School of Medicine and Health Sciences, Washington, DC, USA
| | - Birte Wistinghausen
- Centers for Cancer & Blood Disorders and Cancer & Immunology Research, Children's National Hospital, Washington, DC, USA
- The George Washington University School of Medicine and Health Sciences, Washington, DC, USA
| | - A Yasmine Kirkorian
- The George Washington University School of Medicine and Health Sciences, Washington, DC, USA
- Division of Dermatology, Children's National Health System, Washington, DC, USA
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6
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Cheng J, Qiu Y, Song L, Wu J, Kang L. Systemic progression of primary cutaneous anaplastic large cell lymphoma in 18F-FDG PET/CT: a case report. AMERICAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING 2024; 14:357-364. [PMID: 39840375 PMCID: PMC11744360 DOI: 10.62347/qfcf2923] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/09/2024] [Accepted: 11/26/2024] [Indexed: 01/23/2025]
Abstract
Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a type of skin T-cell lymphoma with a favorable prognosis. Some patients may experience recurrence, but systemic involvement is rare. Some studies suggest that systemic progression is associated with poor prognosis. The value of 18F-FDG PET/CT in diagnosing lymphoma has been recognized, but there is often controversy over the application value of 18F-FDG PET/CT in pcALCL. We present a rare case of pcALCL involving multiple systemic lesions, monitored and evaluated using 18F-FDG PET/CT to assist in clinical treatment decisions. Through this case, we consider that 18F-FDG PET/CT has significant value in diagnosing pcALCL. However, more clinical cases are needed to confirm whether high FDG uptake is associated with the invasiveness of pcALCL and the impact of high FDG uptake and Ki-67 expression on the progression and prognosis of pcALCL.
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Affiliation(s)
- Jia Cheng
- Department of Nuclear Medicine, Zhengzhou Central Hospital Affiliated to Zhengzhou UniversityZhengzhou 450000, Henan, China
- Department of Nuclear Medicine, Peking University First HospitalBeijing 100034, China
| | - Yongkang Qiu
- Department of Nuclear Medicine, Peking University First HospitalBeijing 100034, China
| | - Lele Song
- Department of Nuclear Medicine, Peking University First HospitalBeijing 100034, China
| | - Jing Wu
- Department of Nuclear Medicine, Zhengzhou Central Hospital Affiliated to Zhengzhou UniversityZhengzhou 450000, Henan, China
| | - Lei Kang
- Department of Nuclear Medicine, Peking University First HospitalBeijing 100034, China
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7
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Depew I, Snider WT, Cook S. Anaplastic Large B-Cell Lymphoma: Cutaneous Presentations. Cureus 2024; 16:e71430. [PMID: 39539916 PMCID: PMC11558962 DOI: 10.7759/cureus.71430] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/14/2024] [Indexed: 11/16/2024] Open
Abstract
Anaplastic large cell lymphoma (ALCL) is a rare T-cell lymphoma characterized by CD30 expression. This report describes the case of a 10-year-old female who presented with non-resolving cutaneous lesions initially treated as a bacterial infection. A biopsy confirmed the diagnosis of anaplastic lymphoma kinase-negative (ALK-negative) ALCL with cutaneous and nodal involvement. Further imaging revealed neoplastic uptake in the right lung, and the patient was diagnosed with Murphy stage II ALCL. She began chemotherapy according to established pediatric oncology protocols. ALCL presents diagnostic challenges due to its non-specific symptoms, which can mimic benign conditions. This case underscores the importance of early biopsy and molecular testing when standard treatments fail. Early recognition and routine examinations, including lymph node assessments and skin biopsies, are critical for improving patient outcomes, as timely diagnosis leads to more effective treatment options and potential remission.
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Affiliation(s)
- Ian Depew
- Department of Dermatology, Marshall University Joan C. Edwards School of Medicine, Huntington, USA
| | - William T Snider
- Department of Dermatology, Marshall University Joan C. Edwards School of Medicine, Huntington, USA
| | - Shane Cook
- Department of Dermatology, Marshall University Joan C. Edwards School of Medicine, Huntington, USA
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8
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Yan X, Ren W, Li S, Zhu Z, Gao L, Zhi K. Primary cutaneous anaplastic large-cell lymphoma resembling infratemporal space infection: a case report. BMC Oral Health 2024; 24:470. [PMID: 38637781 PMCID: PMC11027397 DOI: 10.1186/s12903-024-04178-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2024] [Accepted: 03/25/2024] [Indexed: 04/20/2024] Open
Abstract
BACKGROUND Primary cutaneous anaplastic large-cell lymphoma (PC-ALCL) is a rare T-cell lymphoma belonging to the CD30 + T-cell lymphoproliferative disorders. The case of PC-ALCL in the temporal region is exceedingly rare. Herein, we report a case of PC-ALCL involving the temporal region mimicking infratemporal space infection. CASE PRESENTATION A 78-year-old woman presented to maxillofacial surgery service with a 6-month history of swelling and pain in the left side of her face. Laboratory investigations found an elevated C-reactive protein (CRP). Imaging findings showed enlarged lymph nodes and extensive thickening of subcutaneous tissue of the left temples. Based on these findings, the infratemporal space infection was suspected initially. The patient underwent incision and drainage, and we unexpectedly found no pus in the lesion area. Incisional biopsy showed necrosis and extensive involvement of the left temples by a diffuse infiltrate containing large, atypical cells. The tumor cells were positive for CD30, CD3, Ki67. They were negative for ALK (SP8), CD5, CD8, CD20 and PAX5. After considering these findings, a diagnosis of PC-ALCL was rendered. The patient was admitted to the lymphoma department for systemic chemotherapy and no relapse occurred during a follow-up period of six months. CONCLUSIONS This report suggests that if there are suspicious intraoperative manifestations, carrying out a biopsy simultaneously, using Hematoxylin and eosin (HE) staining, and a comprehensive Immunohistochemistry (IHC) panel are essential to diagnosing PC-ALCL to prevent misdiagnosis.
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Affiliation(s)
- Xiaohan Yan
- Department of Oral and Maxillofacial Reconstruction, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China
- School of Stomatology, Qingdao University, Qingdao, 266003, China
- Department of Oral and Maxillofacial Surgery, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China
| | - Wenhao Ren
- Department of Oral and Maxillofacial Reconstruction, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China
- Department of Oral and Maxillofacial Surgery, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China
| | - Shaoming Li
- Department of Oral and Maxillofacial Reconstruction, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China
- School of Stomatology, Qingdao University, Qingdao, 266003, China
- Department of Oral and Maxillofacial Surgery, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China
| | - Zhuang Zhu
- Department of Oral and Maxillofacial Reconstruction, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China
- School of Stomatology, Qingdao University, Qingdao, 266003, China
- Department of Oral and Maxillofacial Surgery, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China
| | - Ling Gao
- Department of Oral and Maxillofacial Reconstruction, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China.
- School of Stomatology, Qingdao University, Qingdao, 266003, China.
- Key Lab of Oral Clinical Medicine, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China.
- Department of Oral and Maxillofacial Surgery, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China.
| | - Keqian Zhi
- Department of Oral and Maxillofacial Reconstruction, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China.
- School of Stomatology, Qingdao University, Qingdao, 266003, China.
- Key Lab of Oral Clinical Medicine, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China.
- Department of Oral and Maxillofacial Surgery, the Affiliated Hospital of Qingdao University, Qingdao, 266555, China.
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Avallone G, Leo F, Astrua C, Mastorino L, Parente R, Grassi M, Fabrizio R, Ferraris A, Quaglino P, Ribero S. Dramatic progression of multifocal primary cutaneous anaplastic large-cell lymphoma. Ital J Dermatol Venerol 2024; 159:215-216. [PMID: 38436616 DOI: 10.23736/s2784-8671.24.07852-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/05/2024]
Affiliation(s)
- Gianluca Avallone
- Section of Dermatology, Department of Medical Sciences, Dermatology Clinic, University of Turin, Turin, Italy -
| | - Francesco Leo
- Section of Dermatology, Department of Medical Sciences, Dermatology Clinic, University of Turin, Turin, Italy
| | - Chiara Astrua
- Section of Dermatology, Department of Medical Sciences, Dermatology Clinic, University of Turin, Turin, Italy
| | - Luca Mastorino
- Section of Dermatology, Department of Medical Sciences, Dermatology Clinic, University of Turin, Turin, Italy
| | - Renato Parente
- Unit of Pathology, Humanitas Gradenigo Hospital, Turin, Italy
| | - Marcella Grassi
- Unit of Dermatology, Humanitas Gradenigo Hospital, Turin, Italy
| | - Renato Fabrizio
- Postgraduation School in Radiodiagnostics, University of Milan, Milan, Italy
| | | | - Pietro Quaglino
- Section of Dermatology, Department of Medical Sciences, Dermatology Clinic, University of Turin, Turin, Italy
| | - Simone Ribero
- Section of Dermatology, Department of Medical Sciences, Dermatology Clinic, University of Turin, Turin, Italy
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10
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Joshi TP, Kunta N, Gupta R. Risk of subsequent malignancies in primary cutaneous anaplastic large cell lymphoma: a national database study. Arch Dermatol Res 2023; 316:57. [PMID: 38141099 DOI: 10.1007/s00403-023-02801-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/01/2023] [Revised: 12/01/2023] [Accepted: 12/14/2023] [Indexed: 12/24/2023]
Affiliation(s)
- Tejas P Joshi
- School of Medicine, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA.
| | - Niharika Kunta
- School of Medicine, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA
| | - Rohit Gupta
- Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX, USA
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11
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Mu HX, Tang XQ. Primary cutaneous anaplastic large cell lymphoma with over-expressed Ki-67 transitioning into systemic anaplastic large cell lymphoma: A case report. World J Clin Cases 2023; 11:6889-6894. [PMID: 37901027 PMCID: PMC10600844 DOI: 10.12998/wjcc.v11.i28.6889] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/19/2023] [Revised: 08/30/2023] [Accepted: 09/06/2023] [Indexed: 09/25/2023] Open
Abstract
BACKGROUND Primary cutaneous anaplastic large cell lymphoma (PC-ALCL) differs from systemic anaplastic large cell lymphoma (sALCL) in cell biological behavior, clinical features, treatment, and outcome. PC-ALCL has been reported to rarely transition into sALCL, but the underlying mechanism is not clear. Here we report such a case with certain characteristics that shed light on this. CASE SUMMARY Herein, we report a 43-year-old male with symptoms of a skin nodule and histologically confirmed PC-ALCL with high expression of Ki-67. After three months of observation, two skin nodules re-appeared with muscle layer involvement and was histologically confirmed as sALCL. Seventeen months after receiving six cycles of CHOP regimen, the patient had pain in the chest and back, cough, shortness of breath, and night sweats. This was confirmed as relapse of sALCL by immunohistochemistry and several organs, such as the lung were involved as shown by positron emission tomography/computed tomography. After four cycles of DICE plus chidamide regimens followed by auto-hematopoietic stem cell transplantation (ASCT), complete remission (CR) duration was achieved for twelve months while the patient was on maintenance with chidamide (20 mg) pills. CONCLUSION This case had significantly high expression of Ki-67 when diagnosed as PC-ALCL initially and then transitioned into sALCL, which is rare. Auto-ASCT combined with demethylation drugs effectively maintained CR and prolonged progression free survival.
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Affiliation(s)
- Hai-Xi Mu
- Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing 400010, China
| | - Xiao-Qiong Tang
- Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing 400010, China
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12
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Gaillard JB, Chapiro E, Daudignon A, Nadal N, Penther D, Chauzeix J, Nguyen-Khac F, Veronese L, Lefebvre C. Cytogenetics in the management of mature T-cell and NK-cell neoplasms: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH). Curr Res Transl Med 2023; 71:103428. [PMID: 38016421 DOI: 10.1016/j.retram.2023.103428] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2023] [Revised: 10/24/2023] [Accepted: 10/25/2023] [Indexed: 11/30/2023]
Abstract
Mature T-cell and natural killer (NK)-cell neoplasms (MTNKNs) are a highly heterogeneous group of lymphomas that represent 10-15 % of lymphoid neoplasms and have usually an aggressive behavior. Diagnosis can be challenging due to their overlapping clinical, histological and immunophenotypic features. Genetic data are not a routine component of the diagnostic algorithm for most MTNKNs. Indeed, unlike B-cell lymphomas, the genomic landscape of MTNKNs is not fully understood. Only few characteristic rearrangements can be easily identified with conventional cytogenetic methods and are an integral part of the diagnostic criteria, for instance the t(14;14)/inv(14) or t(X;14) abnormality harbored by 95 % of patients with T-cell prolymphocytic leukemia, or the ALK gene translocation observed in some forms of anaplastic large cell lymphoma. However, advances in molecular and cytogenetic techniques have brought new insights into MTNKN pathogenesis. Several recurrent genetic alterations have been identified, such as chromosomal losses involving tumor suppressor genes (SETD2, CDKN2A, TP53) and gains involving oncogenes (MYC), activating mutations in signaling pathways (JAK-STAT, RAS), and epigenetic dysregulation, that have improved our understanding of these pathologies. This work provides an overview of the cytogenetics knowledge in MTNKNs in the context of the new World Health Organization classification and the International Consensus Classification of hematolymphoid tumors. It describes key genetic alterations and their clinical implications. It also proposes recommendations on cytogenetic methods for MTNKN diagnosis.
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Affiliation(s)
- Jean-Baptiste Gaillard
- Unité de Génétique Chromosomique, Service de Génétique moléculaire et cytogénomique, CHU Montpellier, Montpellier, France.
| | - Elise Chapiro
- Centre de Recherche des Cordeliers, Sorbonne Université, Université Paris Cité, Inserm UMRS_1138, Drug Resistance in Hematological Malignancies Team, F-75006 Paris, France; Sorbonne Université, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Service d'Hématologie Biologique, F-75013 Paris, France
| | - Agnès Daudignon
- Institut de Génétique Médicale - Hôpital Jeanne de Flandre - CHRU de Lille, France
| | - Nathalie Nadal
- Service de génétique chromosomique et moléculaire, CHU Dijon, Dijon, France
| | - Dominique Penther
- Laboratoire de Génétique Oncologique, Centre Henri Becquerel, Rouen, France
| | - Jasmine Chauzeix
- Service d'Hématologie biologique CHU de Limoges - CRIBL, UMR CNRS 7276/INSERM 1262, Limoges, France
| | - Florence Nguyen-Khac
- Centre de Recherche des Cordeliers, Sorbonne Université, Université Paris Cité, Inserm UMRS_1138, Drug Resistance in Hematological Malignancies Team, F-75006 Paris, France; Sorbonne Université, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Service d'Hématologie Biologique, F-75013 Paris, France
| | - Lauren Veronese
- Service de Cytogénétique Médicale, CHU Estaing, 1 place Lucie et Raymond Aubrac, 63003 Clermont-Ferrand; EA7453 CHELTER, Université Clermont Auvergne, France
| | - Christine Lefebvre
- Unité de Génétique des Hémopathies, Service d'Hématologie Biologique, CHU Grenoble Alpes, Grenoble, France
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