Spontaneous Remission of Monosomy 7 Six Years After Diagnosis

Abstract

Monosomy 7 may be a poor prognostic indicator in pediatric myelodysplastic syndrome. There are case reports of children with monosomy 7 who undergo spontaneous remission 2 to 24 months after diagnosis. We report a case of a child with bone marrow failure and monosomy 7 who underwent spontaneous remission 75 months after diagnosis. The patient had no exposure to chemotherapeutic or immunosuppressive agents. The patient did not receive chemotherapy or other treatment during the 75 months. Despite remaining positive for monosomy 7, he never developed myelodysplasia or acute myeloid leukemia. Spontaneous remission of monosomy 7 may occur years after diagnosis in some patients.

Case Details

Disease Location

Bone marrow

Personal Characteristics

6-month-old african american male infant, born at 27 weeks of gestation

Clinical Characteristics

Presented with 1-week history of upper respiratory symptoms. Complete blood count showed pancytopenia. The patient received platelet and red blood cell transfusions. Bone marrow biopsy and aspirate revealed a variably cellular marrow (50% to 70%). Conventional cytogenetic analysis showed 45,xy,-7 in 12 of 20 cells. Bone marrow cytogenetic analyses for the next 5 years continued to show 80% to 100% of metaphases positive for monosomy 7.

Remission Characteristics

A bone marrow cytogenetic analysis performed 63 months after diagnosis abruptly changed to having 45,xy,-7 in only 2 of 20 cells. One year later (75 mo after initial diagnosis), the patient’s bone marrow biopsy normalized to 46,xy and fish for monosomy 7 was negative.

Treatment & Mechanisms

Proposed Remission Mechanisms

None reported

Clinical Treatment

Platelet and red blood cell transfusion. Bone marrow biopsy

Non-Clinical Treatment

None reported