A Unique Case of Extramedullary Relapse in Acute Lymphoblastic Leukemia: Testicular to Ocular, Cardiac, and Colonic Involvement and the Role of Sperm Phenotyping in Diagnosis-Case Report and Literature Review

Abstract

Acute lymphoblastic leukemia (ALL) is a malignant condition of lymphoid progenitor cells that primarily affects the pediatric population, but also adults. The 5-year survival rate is 90% in children and approximately 40% in adults, with survival increasing through the use of peripheral stem cell allotransplantation (SCT). The relapse rate after stem cell transplantation (SCT) in adult acute lymphoblastic leukemia (ALL) patients ranges from 35% to 45%, making relapse a major cause of death in this population. Background: We present an atypical case of late testicular involvement in ALL in a 50-year-old man diagnosed with ALL pro-T in remission post-chemotherapy (GMALL 2003 protocol) and allogeneic stem cell transplantation (alloSCT) from a related donor. Methods: This case describes a 50-year-old male with ALL pro-T who experienced three rare extramedullary relapses post-chemotherapy and alloSCT. Five years after remission, he had a unilateral testicular relapse confirmed by immunophenotyping of spermatic fluid. Results: Despite no bone marrow involvement, he was treated with chemotherapy, intrathecal therapy, and bilateral testicular radiotherapy. He later relapsed in the orbit, controlled by radiotherapy, followed by a third relapse in the heart and colon. Conclusions: This case highlights the unusual sites and consecutive nature of extramedullary relapses in adult ALL.

Keywords: acute lymphoblastic leukemia T; cardiac; orbital; spermatic fluid immunophenotyping; testicular relapse.

Figure 1

Axial ultrasound section of the left testicle: increased size, inhomogeneous echostructure, and alternating hypoechoic areas.

Figure 2

Vascular signal present in Doppler.

Figure 3

Vascular signal present in B-Flow.

Figure 4

Abdomino-pelvic CT with contrast substance, coronal plane sections: Left testicle.

Figure 5

Abdomino-pelvic CT with contrast substance, coronal plane sections: Adenopathies along the path of the left testicular vein.

Figure 6

Spermiogram and cytospin. (A) Spermiogram—simple smear technique by spreading; (B) Cytospin—concentration technique—mononuclear, presence of microbial flora; (C) Spermiogram—mononuclear cells with blast-like morphology.

Figure 7

Immunophenotyping of the seminal fluid using a panel including CD45, CDCD3s, CD3ic, CD4, CD5, CD8, and CD99.

Figure 7

Immunophenotyping of the seminal fluid using a panel including CD45, CDCD3s, CD3ic, CD4, CD5, CD8, and CD99.

Figure 8

Comparative abdomino-pelvic CT examination—dimensionally reduced left testicle.

Figure 9

Cerebral CT—tumoral mass right and left eye.

Figure 10

Cerebral MRI—tumoral mass LE.

Figure 11

Left eye tumor, eyelid ptosis, exophthalmos.

Figure 12

Ocular fundus.

Figure 13

Cerebral computed tomography—same characteristics as the previous one.

Figure 14

Cerebral CT, May 2023. The bilateral intraorbital tissue masses are no longer evident compared to previous examinations, and there are no areas of ischemia or meningoencephalic infiltration.

Figure 15

Complete atrioventricular block.

Figure 16

Echocardiographic evaluation.

Figure 17

Cardiac computed tomography.