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Du Y, Yang K, Ling Y, Zhang Y, Gong Y. A case report of acute promyelocytic leukemia with myeloid sarcoma of the lumbar spine and literature review. Front Med (Lausanne) 2025; 11:1507716. [PMID: 39911670 PMCID: PMC11794277 DOI: 10.3389/fmed.2024.1507716] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/08/2024] [Accepted: 12/24/2024] [Indexed: 02/07/2025] Open
Abstract
Acute promyelocytic leukemia (APL) presenting solely as myeloid sarcoma (MS) is extremely rare. This report describes a 53-year-old male who presented with low back pain and a movement disorder in his lower limbs. MRI and PET/CT scans of the lumbar spine revealed an intraspinal mass. Pathological analysis of the surgically resected mass identified it as myeloid in origin. Routine blood tests were unremarkable, and bone marrow smears and immunophenotyping showed no evidence of abnormal myeloblasts or promyelocytes. However, bone marrow aspirates testing for acute leukemia fusion genes by qPCR revealed the presence of the PML::RARA fusion. Further investigation via FISH confirmed the fusion in both the bone marrow and the extramedullary mass. The patient was ultimately diagnosed with isolated promyelocytic extramedullary sarcoma (MS/APL). Treatment with all-trans retinoic acid and arsenic trioxide alleviated the back pain and restored the patient's mobility. After 1 year of consolidation therapy, bone marrow smears confirmed sustained remission, and the PML::RARA fusion gene was undetectable. In addition to this case, we review 41 other APL patients with extramedullary sarcoma as their first symptom (MS/APL) at the time of diagnosis and provide an analysis of these cases.
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Affiliation(s)
| | | | | | | | - Yuping Gong
- West China Hospital, Sichuan University, Chengdu, China
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Wang L, Cai DL, Lin N. Myeloid sarcoma of the colon as initial presentation in acute promyelocytic leukemia: A case report and review of the literature. World J Clin Cases 2021; 9:6017-6025. [PMID: 34368322 PMCID: PMC8316963 DOI: 10.12998/wjcc.v9.i21.6017] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/31/2021] [Revised: 05/07/2021] [Accepted: 05/26/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Myeloid sarcoma (MS) rarely occurs in acute promyelocytic leukemia (APL) at onset, but it can develop in relapse cases, especially after APL treated with all-trans retinoic acid (ATRA). Therefore little is known about the clinical features and suitable treatment for APL related MS due to the rarity of the disease, although this may be different from the treatment and prognosis of MS in the relapse stage. To our best knowledge, this is the second case report of APL initial presentation as colon MS.
CASE SUMMARY A 77-year-old woman complained of intermittent right lower abdominal pain, black stool, and difficult defecation for 2 mo. Physical examination showed diffuse tenderness during deep palpation and an anemic appearance. Laboratory findings showed positivity for fecal occult blood testing; white blood cell count: 3.84 × 109/L; hemoglobin: 105 g/L; platelet count: 174 × 109/L; and negativity for tumor markers. Abdominal enhanced computed tomography showed a space occupying lesion in the colon (1.9 cm). Fibrocolonoscopy revealed a polypoid and ulcerated mass measuring 2.5 cm. The tumor was removed. To our surprise, MS was confirmed by immunohistochemistry. PML/RARα fusion gene was detected in colon specimens by fluorescent in situ hybridization and real-time reverse transcription polymerase chain reaction, which was consistent with the bone marrow. She was diagnosed as having APL related MS. A smooth and unobstructed intestinal wall was found by fibrocolonoscopy, and continuous molecular remission was confirmed in both the bone marrow and colon after four courses of ATRA + arsenic trioxide (ATO). ATRA + ATO showed a favorable therapeutic response for both APL and MS.
CONCLUSION Early use of ATRA can benefit APL patients, regardless of whether MS is the first or recurrent manifestation.
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Affiliation(s)
- Lei Wang
- Department of Hematology, The First Affiliated Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
| | - Da-Li Cai
- Department of Hematology, The First Affiliated Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
| | - Na Lin
- Department of Hematology, The First Affiliated Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
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Yamashita T, Nishijima A, Noguchi Y, Narukawa K, Oshikawa G, Takano H. Acute promyelocytic leukemia presenting as recurrent spinal myeloid sarcomas 3 years before developing leukemia: A case report with review of literature. Clin Case Rep 2019; 7:316-321. [PMID: 30847197 PMCID: PMC6389481 DOI: 10.1002/ccr3.1991] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/20/2018] [Revised: 11/04/2018] [Accepted: 12/09/2018] [Indexed: 12/17/2022] Open
Abstract
The de novo myeloid sarcoma (MS) type of acute promyelocytic leukemia (APL) is rare, and clinical features may differ from extramedullary diseases in advanced APL. Many cases occur as a spinal tumor, and some occur in the absence of bone-marrow diseases or coagulation abnormalities. Fluorescence in situ hybridization analysis of MS tissue is useful for accurate diagnosis, even in preserved tissue.
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Affiliation(s)
- Tomoko Yamashita
- Department of Internal MedicineToshiba General HospitalTokyoJapan
| | - Akihiko Nishijima
- Department of HematologyJapan Red Cross Musashino HospitalTokyoJapan
| | - Yuma Noguchi
- Department of HematologyJapan Red Cross Musashino HospitalTokyoJapan
| | - Kensuke Narukawa
- Department of HematologyJapan Red Cross Musashino HospitalTokyoJapan
| | - Gaku Oshikawa
- Department of HematologyJapan Red Cross Musashino HospitalTokyoJapan
| | - Hina Takano
- Division of Blood TransfusionJapan Red Cross Musashino HospitalTokyoJapan
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Bittencourt H, Teixeira Junior AL, Glória ABF, Ribeiro AFLT, Fagundes EM. Acute promyelocytic leukemia presenting as an extradural mass. Rev Bras Hematol Hemoter 2013; 33:478-80. [PMID: 23049367 PMCID: PMC3459371 DOI: 10.5581/1516-8484.20110126] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/24/2011] [Accepted: 10/04/2011] [Indexed: 11/27/2022] Open
Abstract
Acute promyelocytic leukemia is potentially a highly curable type of leukemia that usually presents with pancytopenia, coagulopathies and bleeding. We describe a case of an unusual presentation of acute promyelocytic leukemia. A 53 year-old male was admitted complaining of pain and weakness in his legs. He presented at examination a spastic paraparesis with a sensitive level at the eighth thoracic medullar (T8) segment. Magnetic resonance imaging showed a posterolateral extradural mass from T6 through T8 segments with medullar compression. A complete blood count showed anemia, thrombocytopenia and the presence of promyelocytes and blasts. Marrow examination was compatible with the diagnosis of acute promyelocytic leukemia by cytogenetics and polymerase chain reaction for the PML-RARα gene. He was treated with all-trans-retinoic acid therapy plus daunorubicin and presented an all-trans-retinoic acid syndrome. Despite hematological remission, the patient presented neurologic deterioration and had to be treated with radiotherapy (total dose 3000 cGy) of the extradural lesion. The patient evolved with severe sepsis and died without any recovery from his neurologic deficit. Extramedullary infiltration is a very rare complication in acute promyelocytic leukemia. Most cases are related to relapse after initial treatment with all-trans-retinoic acid. The skin and the central nervous system are the most frequently involved sites. This is possibly the first case reported of this condition in which the patient had a symptomatic extradural mass.
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Affiliation(s)
- Henrique Bittencourt
- Hematology and Oncology Service, Centro Hospitalar Universitário Sainte-Justine, Universidade de Montreal, Montreal, AC, Canada
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5
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Different outcome of myeloid sarcoma with spinal cord compression preceding acute myeloid leukemia: Report of two cases and review of literatures. Chin J Cancer Res 2010. [DOI: 10.1007/s11670-010-0156-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/19/2022] Open
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Inoue T, Takahashi T, Shimizu H, Kanamori M, Kumabe T, Watanabe M, Tominaga T. Spinal granulocytic sarcoma manifesting as radiculopathy in a nonleukemic patient. Neurol Med Chir (Tokyo) 2008; 48:131-6. [PMID: 18362461 DOI: 10.2176/nmc.48.131] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022] Open
Abstract
A 26-year-old nonleukemic woman presented with lumbosacral granulocytic sarcoma manifesting as progressive low back pain and numbness of her left lower leg persisting for 3 months. Physical examination revealed hypesthesia within the left S1 area of the sensory dermatome, decreased Achilles tendon reflex in the left lower extremity, and walking impairment due to severe pain in her left hip and leg. Magnetic resonance imaging confirmed an extradural mass in the spinal canal at the L5-S2 levels with invasion to the pelvis from the left sacral foramen. Positron emission tomography with [18F]fluorodeoxyglucose (FDG-PET) showed hyperaccumulation indicating malignant tumor. Baseline laboratory data were normal. Decompressive laminectomy and tumor removal were performed. Histological examination identified granulocytic sarcoma. Bone marrow involvement was absent. She underwent adjuvant chemotherapy and radiotherapy, resulting in reduced residual lesion and neurological improvement. Immediate diagnosis and adequate systematic treatment are recommended for spinal granulocytic sarcoma in nonleukemic patients to prevent or delay progression to leukemia. The importance of immunohistochemical staining in the differential diagnosis from other types of spinal tumor, and the efficacy of FDG-PET for evaluation of the treatment are also emphasized.
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Affiliation(s)
- Tomoo Inoue
- Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
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Shiozawa Y, Kiyokawa N, Saito M, Fujimoto J, Hata JI, Yamashiro Y. Granulocytic sarcoma of the spine in a child without bone marrow involvement: a case report and literature review. Eur J Pediatr 2005; 164:616-20. [PMID: 16012854 DOI: 10.1007/s00431-005-1728-6] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/08/2005] [Accepted: 05/18/2005] [Indexed: 10/25/2022]
Abstract
UNLABELLED We report a 2-year-old Japanese boy without bone marrow involvement who developed a primary granulocytic sarcoma in his spinal canal. Tumour cells were positive for myeloperoxidase, MIC2, CD56 and, CD68 on formalin-fixed, paraffin-embedded tissue sections and CD13, CD33, CD45, and CD64 on acetone-fixed fresh frozen sections. Nine months after the initiation of treatment, the tumour had significantly regressed and the patient was able to walk with help. CONCLUSION Our patient is the youngest case of granulocytic sarcoma of the spine without bone marrow involvement. Immunohistochemical methods are very helpful in establishing a diagnosis of granulocytic sarcoma.
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Affiliation(s)
- Yusuke Shiozawa
- Department of Paediatrics, Juntendo University School of Medicine, Tokyo, Japan.
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Fiegl M, Rieger C, Braess J, Haferlach T, Schnittger S, Schoch C, Hiddemann W, Ostermann H. Isolated epidural chloroma with translocation t(15; 17) successfully treated with chemotherapy and all-trans-retinoic acid. Br J Haematol 2003; 122:688-9. [PMID: 12899728 DOI: 10.1046/j.1365-2141.2003.04490.x] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]
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Liso V, Specchia G, Pogliani EM, Palumbo G, Mininni D, Rossi V, Teruzzi E, Mestice A, Coppi MR, Biondi A. Extramedullary involvement in patients with acute promyelocytic leukemia. Cancer 1998. [DOI: 10.1002/(sici)1097-0142(19981015)83:8<1522::aid-cncr6>3.0.co;2-4] [Citation(s) in RCA: 55] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/10/2022]
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Abstract
BACKGROUND Extramedullary acute promyelocytic leukemia (APL) is rare, and said to be more common after treatment with all-trans retinoic acid (ATRA) than after any other treatment. METHODS The case of a child with extramedullary relapse of APL after initial treatment with ATRA and that of an adult whose initial treatment was chemotherapy are presented, and the literature on extramedullary relapse of APL is reviewed. RESULTS Twenty-six patients were identified, including the 2 current patients. Ethnicity could be determined in 23 patients, 17 of whom were of other than Northern European extraction. The most common sites of extramedullary disease were the skin (15 patients), central nervous system (5 patients), mediastinum (3 patients), and, curiously, gingiva (3 patients). Extramedullary leukemia developed in 19 patients: after treatment with ATRA (6 patients), cytotoxic chemotherapy (12 patients), or both (1 patient), and developed in 7 others before any treatment for leukemia was given. CONCLUSIONS These data suggest but do not prove that extramedullary APL may occur more frequently after ATRA than other therapy, since ATRA has been available for a relatively short period of time. However, it is clear from the literature that extramedullary APL may occur after chemotherapy or before any treatment.
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Affiliation(s)
- P H Wiernik
- Albert Einstein Cancer Center, Bronx, New York 10467, USA
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Benekli M, Savaş MC, Haznedaroğlu IC, Dündar SV. Granulocytic sarcoma in acute promyelocytic leukemia. Leuk Lymphoma 1996; 22:183-6. [PMID: 8724548 DOI: 10.3109/10428199609051748] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/01/2023]
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Weiss MA, Warrell RP. Two cases of extramedullary acute promyelocytic leukemia. Cytogenetics, molecular biology, and phenotypic and clinical studies. Cancer 1994; 74:1882-6. [PMID: 8082094 DOI: 10.1002/1097-0142(19941001)74:7<1882::aid-cncr2820740709>3.0.co;2-w] [Citation(s) in RCA: 43] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/28/2023]
Abstract
BACKGROUND The extramedullary collection of leukemic cells is an infrequent complication of myeloid leukemias, and extremely uncommon in acute promyelocytic leukemia (APL). METHODS The case reports of two patients with APL who relapsed with extramedullary disease and a review of the literature are presented. RESULTS Two patients with cytogenetically and molecularly confirmed APL developed extramedullary relapse in skin and lymph nodes after prior treatment with all-trans retinoic acid. A review of the literature revealed only nine cases of APL complicated by extramedullary disease. However, only one of these previously reported patients was shown to have the cytogenetic abnormality characteristic of APL. CONCLUSIONS To the authors' knowledge, These two patients represent the first cases of cytogenetically confirmed APL treated with all-trans retinoic acid who developed extramedullary relapse. These events, which were reported infrequently in patients treated only with cytotoxic therapy, may be more common in patients receiving all-trans retinoic acid. In view of the differentiating activity of all-trans retinoic acid, which may increase the migratory capacity of these malignant cells, it is hypothesized that this agent may predispose some patients to unusual forms of relapse.
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MESH Headings
- Adult
- Antigens, CD/analysis
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 17
- Ear Canal/pathology
- Humans
- Leukemia, Promyelocytic, Acute/drug therapy
- Leukemia, Promyelocytic, Acute/genetics
- Leukemia, Promyelocytic, Acute/immunology
- Leukemia, Promyelocytic, Acute/pathology
- Leukemic Infiltration/drug therapy
- Leukemic Infiltration/genetics
- Leukemic Infiltration/immunology
- Leukemic Infiltration/pathology
- Male
- Recurrence
- Skin/pathology
- Translocation, Genetic
- Tretinoin/therapeutic use
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Affiliation(s)
- M A Weiss
- Leukemia Service Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021
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