Dyskeratosis congenita (DC) is a rare multisystemic disorder associated with defective telomere maintenance. Frequent clinical manifestations of DC include reticular skin pigmentation, dystrophic nails, oral leukoplakia, and bone marrow failure. Hepatic disturbances are reported to occur in 7% of DC patients. This study aimed to evaluate the histopathologic spectrum of hepatic involvement in this disorder. DC patients with liver tissue in the pathology database at Boston Children’s Hospital from 1995 to 2022 were identified. Clinical and pathologic information was documented. Thirteen specimens from 11 DC patients were included (M:F = 7:4; median age at the time of liver tissue evaluation: 18 y). DC-associated gene mutations were identified in 9 patients; TERF1-interacting nuclear factor 2 ( TINF2) was the most frequently represented gene mutation, seen in 4 patients. All patients had bone marrow failure, whereas dystrophic nails, cutaneous abnormal pigmentation, and oral leukoplakia were noted in 73%, 64%, and 55% of patients, respectively. Seven patients underwent bone marrow transplants before biopsy/autopsy (median interval of 45 mo). Histologically, 3 of 4 patients who presented with portal hypertension showed noncirrhotic changes (nodular regenerative hyperplasia and/or obliterative portal venopathy), whereas prominent central and sinusoidal fibrosis was noted in patients with intrahepatic shunting and those showing features of chronic passive congestion. All cases showed hepatocyte anisonucleosis. One patient developed hepatic angiosarcoma, and another 1 had colorectal adenocarcinoma metastatic to the liver. DC patients show heterogeneous histologic findings in their liver. The findings of noncirrhotic portal hypertension, intrahepatic shunting, and angiosarcoma suggest vascular functional/structural pathology as a possible unifying etiology of hepatic manifestations of DC.

Juan Putra

Suneet Agarwal

Alyaa Al-Ibraheemi

Ahmad I. Alomari

Antonio R. Perez-Atayde

The American Journal of Surgical Pathology

《美国外科病理学杂志》因其对人类外科病理学最新进展的出色报道而获得了全世界的认可。在每个月刊中，专家都会展示原创文章、评论文章、详细的病例报告和专题，并辅以精美的插图。覆盖范围包括技术方法、诊断辅助和冰冻切片诊断，以及对广泛疾病实体的详细病理学研究。 ARTHUR PURDY STOUT 外科病理学家协会和胃肠病理学协会的官方杂志。

The American Journal of Surgical Pathology is globally recognized for its outstanding reporting on the latest advancements in human surgical pathology. Each monthly issue features original research articles, review articles, detailed case reports, and special topics, complemented by high-quality illustrations. The scope includes technical methods, diagnostic aids, frozen section diagnosis, and in-depth pathological studies of a wide range of disease entities. It is the official journal of the ARTHUR PURDY STOUT Society of Surgical Pathologists and the Society for Gastrointestinal Pathology.

《美国外科病理学杂志》因其对人类外科病理学最新进展的卓越报道而获得全球认可。每期杂志中，专家们展示原创研究文章、评论、详细病例报告和专题，辅以精美插图。内容涵盖技术方法、诊断辅助、冰冻切片诊断，以及对多种疾病的详细病理学研究。该杂志是ARTHUR PURDY STOUT外科病理学家协会和胃肠病理学协会的官方出版物。

American Journal of Surgical Pathology

Spectrum of Liver Pathology in Dyskeratosis Congenita

The findings of noncirrhotic portal hypertension, intrahepatic shunting, and angiosarcoma suggest vascular functional/structural pathology as a possible unifying etiology of hepatic manifestations of DC.

Category	Quartile
医学	1
医学, 病理学	1
医学, 外科	1

Spectrum of Liver Pathology in Dyskeratosis Congenita

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