Moderately Differentiated Adenocarcinoma of the Transverse Colon in a Child with Klippel – Trenaunay Syndrome: Case Report
Arina M. Gabueva,
Nina V. Efimova,
Karolina M. Khudarova,
Elena A. Kosnicheva,
Dmitriy V. Gorokhov,
Elena O. Bezdolnova,
Lyubov E. Larina,
Ella V. Kumirova https://doi.org/10.15690/pf.v23i3.3076
Abstract
Background. Klippel – Trenone syndrome (KTS) is a rare genetic disease that occurs with a frequency of 1 per 100,000 people and is characterized by a typical triad of symptoms: malformation of the capillary network (like a “wine stain”), hypertrophy of soft tissues and bones, and venous malformations of the extremities. Adenocarcinoma is a malignant formation of the glandular epithelium. This disease is extremely rare in children (about 1 case per 1 million people under the age of 20 years annually) due to its large regenerative potential and the absence of comorbid conditions that accumulate with age. In the article, we presented a case demonstrating a combination of these rare and severe diseases in a child.
Case Report. We present a case report of the manifestation of adenocarcinoma of the transverse colon with the development of an acute intestinal obstruction clinic in a child with KTS.
Conclusion. This case report demonstrates the combination of KTS and moderately malignant transverse colon adenocarcinoma in a child. This case is unique and valuable for clinical practice, emphasizing the need for thorough examination of patients with KTS due to the risk of cancer due to mutations in the PIK3CA oncogene. The combination of KTS with aggressive carcinoma leads to the development of complex comorbid pathology. The mutual aggravation of these diseases critically limits the possibilities of therapeutic correction and, as a result, dramatically reduces the expected survival rate of such patients.
Supporting agencies: The authors express their gratitude to the staff of the Morozovskaya Children’s City Clinical Hospital for providing a clinical case and assistance in its detailed study, which made it possible to assess the high level of medical care provided. Special and sincere gratitude is expressed to our scientific supervisor, Lyubov E. Larina, head of the student scientific circle of the Pirogov Russian National Research Medical University. Her mentoring, constant support, and constructive comments during the preparation phase were key factors that provided an opportunity for our in-depth analysis. We are also sincerely grateful to the attending physician, pediatric oncologist Elena O. Bezdolnova. The authors note with appreciation her high professional qualities and friendly assistance in patient care, which was of great importance for our work. We would like to thank Dmitriy V. Gorokhov, head of the Intensive Care Unit for surgical patients at Morozovskaya Children’s City Clinical Hospital, for his invaluable contribution to patient management. We would like to express our special gratitude to Ella V. Kumirova, Doctor of Medical Sciences, Deputy Chief Physician for Oncology at the Morozovskaya Children’s City Clinical Hospital, for her professional opinion, editing of the text and approval of the final version of the manuscript for publication.
About the Authors
Arina M. Gabueva
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Student.
Moscow
Disclosure of interest:
Not declared
Nina V. Efimova
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Student.
Moscow
Disclosure of interest:
Not declared
Karolina M. Khudarova
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Student.
Moscow
Disclosure of interest:
Not declared
Elena A. Kosnicheva
Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Student.
Moscow
Disclosure of interest:
Not declared
Dmitriy V. Gorokhov
Morozovskaya Children’s City Clinical Hospital
Russian Federation
Disclosure of interest:
Russian Federation
MD.
Moscow
Disclosure of interest:
Not declared
Elena O. Bezdolnova
Morozovskaya Children’s City Clinical Hospital
Russian Federation
Disclosure of interest:
Russian Federation
MD.
Moscow
Disclosure of interest:
Not declared
Lyubov E. Larina
Pirogov Russian National Research Medical University; Morozovskaya Children’s City Clinical Hospital
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD, Associate Professor.
1, Ostrovityanova Str., building 7, Moscow, 117997, +7 916-513-00-67
Disclosure of interest:
Not declared
Ella V. Kumirova
Pirogov Russian National Research Medical University; Morozovskaya Children’s City Clinical Hospital; N.N. Blokhin National Medical Research Center of Oncology
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD.
Moscow
Disclosure of interest:
Not declared
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For citations:
Gabueva A.M., Efimova N.V., Khudarova K.M., Kosnicheva E.A., Gorokhov D.V., Bezdolnova E.O., Larina L.E., Kumirova E.V. Moderately Differentiated Adenocarcinoma of the Transverse Colon in a Child with Klippel – Trenaunay Syndrome: Case Report. Pediatric pharmacology. 2026;23(3):341-350. (In Russ.) https://doi.org/10.15690/pf.v23i3.3076
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