Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome:  An association not previously described

Hipolito, Lucia Núñez; Mendoza-Cembranos, María Dolores; Villaescusa, María Teresa López; Jo‐Velasco, Margarita; Requena, Luis; Alegría-Landa, Victoria

doi:10.1111/cup.13483

Cited by 3 publications

(2 citation statements)

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“…We found only 1 case of cow's milk intolerance among 15 living patients (7%), although it is reported to affect 27%–47% of TAR patients (Greenhalgh et al, 2002; Klopocki et al, 2007). Other anomalies which have been reported previously were observed in our series, including retrognathism (Houeijeh et al, 2011), scoliosis (Greenhalgh et al, 2002), facial angioma (Greenhalgh et al, 2002), hands and feet edema (Hall, 1987), and Langherans cell histiocytosis (Giordano et al, 2011; Hipólito et al, 2019). We observed clinical features which have not been associated with TAR syndrome, including syringomyelia, segmentation abnormalities of thoracic vertebrae and eye coloboma (Table S1).…”

Section: Clinical Features Nb Cases (%)supporting

confidence: 75%

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

et al. 2020

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Thrombocytopenia‐absent radius (TAR) syndrome is characterized by radial defect and neonatal thrombocytopenia. It is caused by biallelic variants of RBM8A gene (1q21.1) with the association of a null allele and a hypomorphic noncoding variant. RBM8A encodes Y14, a core protein of the exon junction complex involved in messenger RNA maturation. To date, only two hypomorphic variants have been identified. We report on a cohort of 26 patients affected with TAR syndrome and carrying biallelic variants in RBM8A. Half patients carried a 1q21.1 deletion and one of the two known hypomorphic variants. Four novel noncoding variants of RBM8A were identified in the remaining patients. We developed experimental models enabling their functional characterization in vitro. Two variants, located respectively in the 5′‐untranslated region (5′‐UTR) and 3′‐UTR regions, are responsible for a diminished expression whereas two intronic variants alter splicing. Our results bring new insights into the molecular knowledge of TAR syndrome and enabled us to propose genetic counseling for patients' families.

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Section: Clinical Features Nb Cases (%)supporting

confidence: 75%

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

et al. 2020

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“…There are many documented hematologic manifestations associated with TAR syndrome; most commonly transient leukemoid reaction with white blood cell count >35 000/µL and often associated with hepatosplenomegaly ( 1 ). Other rare reports include T-cell acute lymphoblastic leukemia (ALL), B-cell ALL, acute myeloid leukemia, and Langerhans cell histiosyctosis ( 5 , 6 ). While there are no reports of autoimmune disease or AIH in patients with TAR syndrome, TAR is very rare and it is possible that cases exist that have not been reported or that this is rather just a casual association rather than TAR leading to increased susceptibility to AIH.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Acute Liver Failure Secondary to Autoimmune Hepatitis in an Infant With Thrombocytopenia-Absent Radius (TAR) Syndrome: A Case Report

Mercedes¹,

Patel²,

Shiau³

et al. 2023

JPGN Reports

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Thrombocytopenia absent radius (TAR) syndrome is a rare genetic disorder that has been associated with food protein–induced allergic proctocolitis and transient leukemoid reactions, among other manifestations. There has been no prior reports of its association with autoimmune disease, more specifically, autoimmune hepatitis (AIH) or the development of pediatric acute liver failure (PALF). We present a case of an 8-month-old infant with TAR syndrome who presented with PALF, secondary to AIH with elevated liver-kidney microsomal antibody (>1:2560). She received a liver transplant and had a very complicated postoperative course including severe T-cell–mediated rejection, infection, biliary stricture, persistently elevated liver-kidney microsomal antibodies, and antibody-mediated rejection. Ultimately, these complications led to graft failure, severe sepsis, and death. This case highlights a new association of TAR syndrome with AIH and PALF and a potentially aggressive nature of AIH both pre- and post-transplant.

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Synchronous Pulmonary Langerhans Cell Histiocytosis and Multiple Cutaneous Reticulohistiocytomas With a Common BRAF-V600E/D Mutation Driver

Parra,

Georgantzoglou,

Green

et al. 2024

The American Journal of Dermatopathology

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Histiocytoses constitute a group of heterogeneous disorders characterized by involvement of variable organs by neoplastic macrophage or dendritic cells. They may affect both adults and children with a predilection to the skin, bone, lungs, lymph nodes, and CNS. The coexistence of different types of histiocytoses in the same patient is an extremely rare phenomenon. We describe a very rare case of co-occurring pulmonary Langerhans cell histiocytosis with multiple cutaneous reticulohistiocytomas with a common BRAF-V600E mutation as the driver genetic event in both the lung and skin lesions. The presence of a common BRAF-V600E mutation provides evidence of their clonal relation and contributes to our understanding in the pathogenesis of multiple, co-occurring histiocytic proliferations.

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Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described

Cited by 3 publications

References 10 publications

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Pediatric Acute Liver Failure Secondary to Autoimmune Hepatitis in an Infant With Thrombocytopenia-Absent Radius (TAR) Syndrome: A Case Report

Synchronous Pulmonary Langerhans Cell Histiocytosis and Multiple Cutaneous Reticulohistiocytomas With a Common BRAF-V600E/D Mutation Driver

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