Subcutaneous panniculitis‐like T‐cell lymphoma in a 14‐year‐old female homozygous for <i>HAVCR2</i> mutation

Frederiks, Aaron J; Spagnolo, Dominic V.; Ramachandran, Shanti; Brand, Roland

doi:10.1111/ajd.13684

Cited by 4 publications

(4 citation statements)

References 10 publications

(42 reference statements)

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“…It accounts for less than 1% of all non-Hodgkin lymphomas ( 4 ), and is rare in Caucasians ( 5 , 6 ) but more common in Asians ( 7 , 8 ). Regarding incidence, there are no significant sex differences and it can occur at any age, with an average age of onset of 36 years ( 4 , 9 ). The primary clinical manifestation is non-specific subcutaneous nodules, which are easily misdiagnosed.…”

Section: Discussionmentioning

confidence: 99%

“…The primary clinical manifestation is non-specific subcutaneous nodules, which are easily misdiagnosed. The cutaneous lesions are usually on the trunk and extremities, and can sometimes be observed on the face, neck, axilla, groin, and hip ( 4 , 9 - 12 ). SPTCL predominantly presents as melasma to reddish subcutaneous plaques and nodules without tenderness, which can vary in size (diameter, 0.5–0.9 cm) ( 4 , 10 , 13 - 16 ).…”

Section: Discussionmentioning

confidence: 99%

“…Clinically, partial relapse-refractory SPTCL has gradually emerged, and the treatment mode of combination therapy is currently the first choice for patients with relapsed refractory SPTCL ( 4 , 16 , 33 ). Immunosuppressants are more effective for SPTCL patients with TIM-3 deficiency ( 9 , 34 ). Some studies have suggested that allogeneic hematopoietic stem cell transplantation is justified for the treatment of refractory SPTCL ( 35 , 36 ).…”

Section: Discussionmentioning

confidence: 99%

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A case report and literature review: subcutaneous panniculitis-like T-cell lymphoma with liver failure as the main manifestation

He¹,

Wang²,

Feng³

et al. 2022

Ann Transl Med

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Background: Subcutaneous lipofuscinosis-like T-cell lymphoma (SPTCL) is a rare cutaneous lymphoma that often presents as recurrent subcutaneous nodules and may progress to hemophagocytic syndrome with fever and hepatic impairment in some patients. However, no cases of progression to hepatic failure have been reported. Here, we present a case of an adult diagnosed with fever and liver failure as the main manifestation, which was eventually confirmed as SPTCL by skin biopsy, but the patient eventually died due to disease progression.Case Description: This study retrospectively reports a rare case of SPTCL in a 34-year-old female patient who was admitted with scleral jaundice for 1 month and fever for 20 days. Examination revealed multiple small subcutaneous nodules on the skin of the chest and tibial surface and an enlarged liver and spleen. Laboratory tests revealed hepatic impairment, and common causes of liver failure (viral infection, fatty liver, immune liver damage, etc.) were excluded. We continued to refine the positron emission tomography-computed tomography (PET-CT) examination, which revealed multiple flocculent and nodular hyperdense shadows with increased metabolism in the subcutaneous fat interstices. And then, we performed a skin biopsy and the final pathological diagnosis was SPTCL, but the patient died 1 month after diagnosis due to poor treatment outcome because the disease progressed too rapidly. With this case report, we hope to improve clinicians' understanding of liver injury caused by SPTCL. A review of the literature revealed that this is the first case report in the literature of SPTCL leading to severe liver failure.Conclusions: For patients presenting with fever and liver injury, primary liver disease cannot simply be assumed, as this presentation may be a manifestation of some extra-hepatic diseases, including SPTCL. For this condition, early detection and early diagnosis may improve the prognosis of patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A case report and literature review: subcutaneous panniculitis-like T-cell lymphoma with liver failure as the main manifestation

He¹,

Wang²,

Feng³

et al. 2022

Ann Transl Med

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“…Thirteen studies (6 cohorts and 7 case reports) were eli- gible for the systematic review (Table 3). [1][2][3][9][10][11][12][13][14][15][16][17] The PRISMA flow diagram for study screening and the selection process is illustrated in the Online Supplementary Figure S5.…”

Section: Systematic Review and Conventional Meta-analysismentioning

confidence: 99%

Germline <i>HAVCR2</i> mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis

et al. 2023

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Germline HAVCR2 mutations are frequently detected in subcutaneous panniculitis-like T-cell lymphoma (SPTCL) patients with/without hemophagocytic lymphohistiocytosis (HLH) but factors associated with variable manifestations remain undetermined. To evaluate clinical variations and associated factors in SPTCL and/or HLH with/without HAVCR2 mutations, we performed direct sequencing of HAVCR2 exon 2 using DNA from patients with SPTCL or idiopathic HLH/HLH-like systemic illnesses, defined by HLH alone without secondary causes. The systematic review and individual patient data (IPD) level meta-analysis which included the present and previously published studies reporting HAVCR2 mutations in SPTCL with/without HLH populations was subsequently conducted using random-effects meta-analysis and multivariate logistic regression. Among 34 patients enrolled, 10 of 28 SPTCL patients developed HLH/HLH-like systemic illnesses. Six cases with HAVCR2Y82C mutation manifested with HLH without panniculitis. Male gender (p=0.03) and age

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Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Bauman

Dorjbal

Pittaluga

et al. 2023

Clinical Immunology

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Subcutaneous panniculitis‐like T‐cell lymphoma in a 14‐year‐old female homozygous for HAVCR2 mutation

Cited by 4 publications

References 10 publications

A case report and literature review: subcutaneous panniculitis-like T-cell lymphoma with liver failure as the main manifestation

A case report and literature review: subcutaneous panniculitis-like T-cell lymphoma with liver failure as the main manifestation

Germline <i>HAVCR2</i> mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

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